Mitochondrial Dna Depletion Syndrome 4a (alpers Type); Mtdps4a

Description

Mitochondrial DNA depletion syndrome-4A, also known as Alpers syndrome, is an autosomal recessive disorder characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children. Pathologic findings include neuronal loss in the cerebral gray matter with reactive astrocytosis and liver cirrhosis. The disorder is progressive and often leads to death from hepatic failure or status epilepticus before age 3 years (review by Milone and Massie, 2010).Some affected individuals may show mild intermittent 3-methylglutaconic aciduria and defects in mitochondrial oxidative phosphorylation (Wortmann et al., 2009).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).Neuropathologic changes characteristic of Alpers syndrome, namely laminar cortical necrosis, may also be seen in some patients with combined oxidative phosphorylation deficiency-14 (COXPD14 ), caused by mutation in the FARS2 gene (OMIM ), and COXPD24 (OMIM ), caused by mutation in the NARS2 gene (OMIM ).

Genes related to Mitochondrial Dna Depletion Syndrome 4a (alpers Type); Mtdps4a

POLG

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Dna Depletion Syndrome 4a (alpers Type); Mtdps4a

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia
Pica
Hearing impairment
Microcephaly
Ataxia
Growth delay

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Incidence and onset information

— Based on the latest data available Mitochondrial Dna Depletion Syndrome 4a (alpers Type); Mtdps4a have a estimated prevalence of 0.07 per 100k worldwide.

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Mitochondrial Dna Depletion Syndrome 4a (alpers Type); Mtdps4a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis. By Baylor Miraca Genetics Laboratories in United States. GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...) View the complete list with 617 more genes Panel GTR000508280 complete gene list GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2, PRPF8, AGPS, PRPF31, PUS1, D2HGDH, CA4, PITPNM3, ALG3, STRA6, MYO7A, RNASEL, PPARGC1B, UCP3, UCP1, GJA3, PHOX2A, SQSTM1, GUCA1A, ETHE1, MPI, EYS, TYMP, ALG6, GAD1, SLC35A1, RIMS1, SCO2, LCA5, TAP1, CISD2, C1QTNF5, DMGDH, AMT, GLDC, GCSH, PINK1, HMGCS2, PCCA, PCCB, PARK7, GLUD1, B4GALT1, ALG12, SPG7, COQ2, UCP2, NDUFA13, GRN, ALG2, FSCN2, ALG8, UNG, AP3B1, MEF2A, CERKL, RGS9, ALG1, ATIC, ALG9, COG7, PDP1, DPM1, HADHB, FLVCR1, GFM1, MPDU1, PLOD2, IQCB1, SLC25A22, TK2, SECISBP2, TOPORS, ACADSB, CTSD, POLG2, DNAJC19, REEP1, ALDH2, SEMA4A, HTRA2, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, MRPS16, TSFM, PRCD, RD3, TUFM, CRTAP, PNPLA2, HAX1, SLC25A3, P3H1, TUSC3, DARS2, COG8, COG1, ACAD8, RARS2, GYS1, TUBA1A, MRPS22, CYCS, RFT1, COQ8A, SUCLA2, STXBP1, SLC9A3R1, SLC39A13, SDHB, PLOD3, RPL35A, AK1, SOD2, RDH12, COX4I2, SPR, GATM, GAMT, ADAM9, ENO3, LDHA, PGM1, DPM3, KLHL7, SLC25A12, TMEM126A, TLR3, PHKG2, GFER, PDE6C, ABAT, TRPM1, TSPAN12, CAVIN1, LRAT, GRK1, PCARE, GCKR, GPI, IMPG2, CNGA1, CYP24A1, G6PC, PYGL, NUBPL, NDUFA10, TAT, FAM161A, FYCO1, XPNPEP3, MTPAP, MSRB3, GNAT2, TTC19, HSD3B2, CCDC28B, HMGCL, NDUFAF1, PCK2, FAH, PHKA2, RS1, NFU1, CNGB1, RGR, CCDC39, PDE6A, GUCA1B, SLC24A1, SARS2, SP7, DHDDS, MERTK, SERPINF1, PRPF6, HAGH, TMEM70, ACAT2, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HP, CAT, ALDH6A1, PDHB, LDHB, DIABLO, GPX1, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, GOT1, ALDH18A1, AGK, COX14, NDUFA9, GPD1, NDUFB3, LIAS, C8orf37, HARS, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, PPP2R1B, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, CNGA3, SLC3A1, COX6B1, FASTKD2, LRPPRC, GLYCTK, FXN, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CYBA, HK1, CBS, L2HGDH, NAGS, SLC25A15, TNFRSF11B, ALDH4A1, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, MANBA, DBT, HIBCH, CYB5A, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, NME1, MPV17, GRM6, OAT, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, AGXT, GIF, CUBN, PAH, QDPR, PTS, PGAM2, PHKB, ACOX1, CYP27B1, CTSK, ALDH7A1, NT5C3A, SLC35C1, PHYH, AK2, LPIN1, HEXB, SARDH, ALDH3A2, ALDH5A1, SUOX, GM2A, HEXA, TCN2, ABHD5, LMBRD1, MMADHC, XDH, ABCD1, BCOR, SLC9A6, AMER1, ACSL4, PHKA1, MAOA, AIFM1, DDOST, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, CDH23, MTO1, WHRN, SLC26A4, FBN1, CYP11B2, MECP2, SMPD1, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, VCP, FH, OPA3, RAF1, HADHA, PANK2, SDHC, CRYAB, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, CYP11B1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, DSP, PRPH2, ME2, SHH, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, NHS, HPRT1, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, FOXC1, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, PSAP, COMT, WFS1, DTNBP1, CLCN7, PYCR1, CASP8, TRMU, ABCB6, KRT5, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, ABCA12, INPP5E, TNFRSF11A, GPR143, OPTN, RP1, EYA4, PDZD7, SLC37A4, ELN, TYR, MC1R, RET, MTR, HNF1B, LEMD3, SDHAF2, TUBB3, PITX3, TGFBI, RILP, PSEN1, RB1, CHM, TLR4, ELAC2, ZEB1, TGFB1, PAX6, WT1, SLC45A2, AMN, SOST, APP, SLC34A1, VSX1, OCA2, PRKCG, STAT1, STAR, KRT3, KRT12, GPD2, EFEMP1, SNCB, COL5A2, COL5A1, MEN1, WWOX, FZD4, KIF21A, RDH5, TIMP3, MYOC, OGG1, STAT3, RPS14, LMX1B, SEPT9, TMEM127, PPOX, ZFHX3, FECH, RP9, SLC22A4, HESX1, ANKRD26, NCOA4, CYP17A1, OGDH, ALMS1, CLN3, TPP1, GLRX5, SLC25A38, SOX2, ASL, APTX, BBS2, PDE6G, RP1L1, SPTLC2, KARS, IDH2, CDHR1, SCP2, CYP11A1, NRL, COL3A1, COL1A2, COL1A1, COL2A1, LRP5, PPARG, EYA1, FBLN5, TYRP1, RAX, MMACHC, SPATA7, NEUROD1, OPN1LW, HBB, HNF1A, OPN1MW, INVS, FOXL2, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, B4GALT7, AUH, ATPAF2, ATP8B1, ATP7B, BTD, ATP7A, FKBP10, ATP5F1E, TYROBP, HLCS, UQCRB, ANKH, ARG1, UQCRQ, USH1C, GYS2, PC, FBP1, USH1G, ALDOB, ALDOA, YARS2, AIPL1, ZNF513, ACAT1, ACADVL, AGL, ACADS, ACADM, ACAD9, ACACA, ABHD12, ABCB4, ABCB11, AARS2, MCCC2, MCCC1, TP53, MUTYH, VHL, UBE3A, MTHFR, BRCA1 Specificity 1 % Genes 100 %
POLG Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. POLG Specificity 100 % Genes 100 %
POLG Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. POLG Specificity 100 % Genes 100 %
POLG Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. POLG Specificity 100 % Genes 100 %
POLG Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. POLG Specificity 100 % Genes 100 %
mtDNA Depletion/Integrity Panel (MitomeNGS). By Baylor Miraca Genetics Laboratories in United States. SUCLG2, MGME1, SUCLG1, MPV17, TYMP, TK2, POLG2, SUCLA2, DGUOK, OPA3, RRM2B, SLC25A4, POLG, OPA1, TWNK Specificity 7 % Genes 100 %
PEO Panel (MitomeNGS). By Baylor Miraca Genetics Laboratories in United States. MGME1, POLG2, OPA3, RRM2B, SLC25A4, POLG, OPA1, TWNK Specificity 13 % Genes 100 %
GeneAware Complete Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories in United States. TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, BTK, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1 , (...) View the complete list with 139 more genes Panel GTR000553929 complete gene list TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, BTK, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1, PEX1, MPL, MCOLN1, MLC1, LAMA3, GRHPR, TH, UGT1A1, SLC35A3, SLC26A2, SACS, SLC7A7, SERPINA1, SGCB, SGCA, PEX7, PPT1, DCLRE1C, NPHS1, PROP1, NPHS2, PEX2, CYBB, CTNS, NEB, HBA2, G6PD, MTTP, FKTN, LAMB3, HBA1, DOK7, COL4A3, CLN8, CLN6, CHRNE, ADAMTS2, NBN, ATM, SMN1, RMRP, NPC1, IDUA, GJB6, GJB2, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, IL2RG, AGA, ADA, CLN3, TPP1, ASL, BBS2, BBS1, BBS10, PMM2, SLC22A5, CYP27A1, ASS1, LRPPRC, GALT, GCDH, CBS, SLC25A15, IVD, GALC, MAN2B1, DBT, SGSH, CHAT, CPT1A, AGXT, PAH, PTS, CTSK, HEXB, ALDH3A2, HEXA, ABCD1, OTC, MYO7A, ETHE1, MPI, AMT, GLDC, PCCA, PCCB, G6PC, HMGCL, FAH, DHDDS, HPS3, CDH23, SLC26A4, MECP2, SMPD1, FH, HADHA, SLC25A13, POLG, DLD, PCDH15, USH2A, CLRN1, NPHP1, CYP1B1, OCRL, GNE, GLB1, GNPTAB, CPT2, HSD17B4, SLC37A4, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, BTD, ALPL, USH1C, PC, ALDOB, ACADVL, AGL, ACADM, UBE3A, FMR1 Specificity 1 % Genes 100 %
GeneAware Complete Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories in United States. TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1 , (...) View the complete list with 129 more genes Panel GTR000553930 complete gene list TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1, PEX1, MPL, MCOLN1, MLC1, LAMA3, GRHPR, TH, UGT1A1, SLC35A3, SLC26A2, SACS, SLC7A7, SERPINA1, SGCB, SGCA, PEX7, PPT1, DCLRE1C, NPHS1, PROP1, NPHS2, PEX2, CTNS, NEB, HBA2, MTTP, FKTN, HBA1, DOK7, COL4A3, CLN8, CLN6, CHRNE, ADAMTS2, NBN, ATM, SMN1, RMRP, NPC1, IDUA, GJB6, GJB2, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AGA, ADA, CLN3, TPP1, ASL, BBS2, BBS1, BBS10, PMM2, SLC22A5, CYP27A1, ASS1, LRPPRC, GALT, GCDH, CBS, SLC25A15, IVD, GALC, MAN2B1, DBT, SGSH, CHAT, CPT1A, AGXT, PAH, PTS, CTSK, HEXB, ALDH3A2, HEXA, MYO7A, ETHE1, MPI, AMT, GLDC, PCCA, PCCB, G6PC, HMGCL, FAH, DHDDS, HPS3, CDH23, SLC26A4, SMPD1, FH, HADHA, SLC25A13, POLG, DLD, PCDH15, USH2A, CLRN1, NPHP1, CYP1B1, GNE, GLB1, GNPTAB, CPT2, HSD17B4, SLC37A4, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, LAMB3, BTD, ALPL, USH1C, PC, ALDOB, ACADVL, AGL, ACADM, UBE3A Specificity 1 % Genes 100 %
Progressive External Ophthalmoplegia Evaluation (POLG, TWINKLE, ANT1, OPA1, MELAS). By Athena Diagnostics Inc in United States. MT-TL1, SLC25A4, POLG, OPA1, TWNK Specificity 20 % Genes 100 %
Mitochondrial Hepatoencephalopathic Evaluation (POLG, DGUOK, MPV17, TWINKLE). By Athena Diagnostics Inc in United States. MPV17, DGUOK, POLG, TWNK Specificity 25 % Genes 100 %
POLG DNA Sequencing Test. By Athena Diagnostics Inc in United States. POLG Specificity 100 % Genes 100 %
Common Mitochondrial Disorders Evaluation (POLG, MELAS, MERRF, NARP). By Athena Diagnostics Inc in United States. MT-ATP6, MT-TK, MT-TL1, POLG Specificity 25 % Genes 100 %
POLG DNA Sequencing Test (Alpers' Syndrome). By Athena Diagnostics Inc in United States. POLG Specificity 100 % Genes 100 %
Miochondrial Encephalomyopathic Evaluation (TK2, RRM2B, POLG). By Athena Diagnostics Inc in United States. TK2, RRM2B, POLG Specificity 34 % Genes 100 %
MIRAS-Specific POLG1 DNA Test. By Athena Diagnostics Inc in United States. POLG Specificity 100 % Genes 100 %
Ataxia, Supplemental Recessive Evaluation. By Athena Diagnostics Inc in United States. GRM1, SIL1, TDP1, ANO10, SYT14, SYNE1, SETX, TTPA, SACS, MRE11, ATM, APTX, FLVCR1, COQ8A, MTPAP, AFG3L2, POLG Specificity 6 % Genes 100 %
Ataxia, Complete Recessive Evaluation. By Athena Diagnostics Inc in United States. GRM1, SIL1, TDP1, ANO10, SYT14, SYNE1, SETX, TTPA, SACS, MRE11, ATM, APTX, FXN, FLVCR1, COQ8A, MTPAP, AFG3L2, POLG Specificity 6 % Genes 100 %
Ataxia, Comprehensive Evaluation. By Athena Diagnostics Inc in United States. SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, SYNE1, SETX , (...) View the complete list with 22 more genes Panel GTR000552523 complete gene list SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, SYNE1, SETX, ATN1, ATXN8OS, TBP, CACNA1A, ATXN7, ATXN10, ATXN3, ATXN2, PPP2R2B, TTPA, SACS, MRE11, ATM, ATXN1, APTX, FXN, FLVCR1, COQ8A, MTPAP, AFG3L2, POLG, PRKCG Specificity 3 % Genes 100 %
Epilepsy Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc in United States. IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...) View the complete list with 214 more genes Panel GTR000559466 complete gene list IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, HNRNPU, MAGI2, CACNA2D2, RBFOX1, CACNA2D1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, LARGE1, LAMA2, CACNB4, KCNA1, POMT1, POMT2, DYNC1H1, CASR, KCNJ11, CACNA1A, FKRP, NOTCH3, SCN1A, CSTB, DPYD, PLA2G6, PHGDH, CLN5, POMGNT1, PEX7, PPT1, FKTN, CLN8, CLN6, GPC3, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, TSC2, WDR62, SLC2A1, RAI1, PLP1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, FGFR3, SLC6A8, WWOX, CLN3, TPP1, CYP27A1, L2HGDH, NDUFA1, ALDH7A1, SLC9A6, AMT, GLDC, GRN, ALG9, SLC25A22, CTSD, TUBA1A, SUCLA2, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, PANK2, SLC25A19, POLG, SHH, ADGRV1, HPRT1, HSD17B10, ATP6V0A2, CPT2, PAX6, ADSL, ALPL, UBE3A Specificity 1 % Genes 100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine. By Athena Diagnostics Inc in United States. PRRT2, ATP1A2, CACNA1A, NOTCH3, SCN1A, SLC2A1, POLG Specificity 15 % Genes 100 %
NGS Epilepsy/Seizure Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR , (...) View the complete list with 125 more genes Panel GTR000525129 complete gene list ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR, NEDD4L, CLCN2, CCL2, NECAP1, ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, KANSL1, ST3GAL3, SZT2, DOCK7, SLC13A5, SNAP25, HNRNPU, MAGI2, CACNA2D1, MFSD8, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, SIX3, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, PRRT2, DEPDC5, TBC1D24, SCN5A, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, GABRD, FOLR1, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, KCNA1, CASR, KCNJ11, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, PTCH1, TSC1, SYNGAP1, TSC2, WDR62, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, NDUFA1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, SLC25A19, POLG, SHH, ADSL, UBE3A, MTHFR Specificity 1 % Genes 100 %
POLG1-related disorders. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. POLG Specificity 100 % Genes 100 %
Optic Atrophy and Early Glaucoma Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. SH3PXD2B, SLC4A4, LTBP2, ASB10, FOXE3, MAF, TBK1, ACVR1, CANT1, NR2F1, COL4A1, SBF2, MYOC, LMX1B, NDUFS1, CISD2, SPG7, TMEM126A, MTPAP, ACO2 , (...) View the complete list with 14 more genes Panel GTR000558970 complete gene list SH3PXD2B, SLC4A4, LTBP2, ASB10, FOXE3, MAF, TBK1, ACVR1, CANT1, NR2F1, COL4A1, SBF2, MYOC, LMX1B, NDUFS1, CISD2, SPG7, TMEM126A, MTPAP, ACO2, OPA3, POLG, CYP1B1, MFRP, PITX2, FOXC1, WFS1, OPA1, OPTN, PITX3, PAX6, C12orf65, BEST1, AUH Specificity 3 % Genes 100 %
Mitochondrial Depletion Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. DNA2, FBXL4, TFAM, MGME1, APTX, SUCLG1, MPV17, TYMP, SPG7, TK2, POLG2, SUCLA2, GFER, ABAT, DGUOK, AGK, OPA3, MFN2, RRM2B, SLC25A4 , (...) View the complete list with 3 more genes Panel GTR000556361 complete gene list DNA2, FBXL4, TFAM, MGME1, APTX, SUCLG1, MPV17, TYMP, SPG7, TK2, POLG2, SUCLA2, GFER, ABAT, DGUOK, AGK, OPA3, MFN2, RRM2B, SLC25A4, POLG, OPA1, TWNK Specificity 5 % Genes 100 %
Neuromuscular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. GMPPB, LMOD3, SPEG, STAC3, POMK, TOR1AIP1, SLC5A7, HNRNPDL, MTMR14, TNNI2, TNPO3, MYF6, LIMS2, KLHL41, GLE1, COL12A1, AMPD1, FBXL4, GAN, HINT1 , (...) View the complete list with 124 more genes Panel GTR000556370 complete gene list GMPPB, LMOD3, SPEG, STAC3, POMK, TOR1AIP1, SLC5A7, HNRNPDL, MTMR14, TNNI2, TNPO3, MYF6, LIMS2, KLHL41, GLE1, COL12A1, AMPD1, FBXL4, GAN, HINT1, PLEKHG5, LAS1L, LAMP2, CHRNG, DNMT1, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, SYNE2, TMEM43, SYNE1, IGHMBP2, VRK1, DYNC1H1, BICD2, BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40, DCTN1, SETX, RYR1, CACNA1S, SELENON, FHL1, BAG3, BSCL2, ATP2A1, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, SGCE, SCN4A, DYSF, UBA1, CAV3, FKRP, PABPN1, CLCN1, LMNA, DNM2, HSPB1, HSPB8, TRPV4, FIG4, RAPSN, CAPN3, SGCG, POMGNT1, SGCB, SGCA, NEB, FKTN, DOK7, CHRNE, DMD, MGME1, PMM2, PYGM, SUCLG1, CHAT, PHKA1, TYMP, DPM1, TK2, POLG2, REEP1, PNPLA2, SUCLA2, DPM3, CAVIN1, AGK, VCP, CRYAB, RRM2B, GARS, SLC25A4, POLG, TRIM32, GNE, GAA, TWNK, ATP7A Specificity 1 % Genes 100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. PGK1, CTDP1, MT-CYB, CASQ1, FDX2, AMPD1, TSEN54, SIL1, RYR1, ATP2A1, ANO5, SCN4A, DYSF, CAV3, FKRP, FKTN, DMD, SLC25A20, ETFDH, ETFA , (...) View the complete list with 27 more genes Panel GTR000552467 complete gene list PGK1, CTDP1, MT-CYB, CASQ1, FDX2, AMPD1, TSEN54, SIL1, RYR1, ATP2A1, ANO5, SCN4A, DYSF, CAV3, FKRP, FKTN, DMD, SLC25A20, ETFDH, ETFA, ETFB, PYGM, PFKM, ISCU, PGAM2, PHKB, LPIN1, PHKA1, HADHB, TK2, TSFM, SUCLA2, ENO3, LDHA, PGM1, DGUOK, HADHA, RRM2B, POLG, CPT2, SLC16A1, GAA, TWNK, ALDOA, ACADVL, AGL, ACADM Specificity 3 % Genes 100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. PGK1, CTDP1, MT-CYB, CASQ1, FDX2, AMPD1, TSEN54, SIL1, RYR1, ATP2A1, ANO5, SCN4A, DYSF, CAV3, FKRP, FKTN, DMD, SLC25A20, ETFDH, ETFA , (...) View the complete list with 27 more genes Panel GTR000552468 complete gene list PGK1, CTDP1, MT-CYB, CASQ1, FDX2, AMPD1, TSEN54, SIL1, RYR1, ATP2A1, ANO5, SCN4A, DYSF, CAV3, FKRP, FKTN, DMD, SLC25A20, ETFDH, ETFA, ETFB, PYGM, PFKM, ISCU, PGAM2, PHKB, LPIN1, PHKA1, HADHB, TK2, TSFM, SUCLA2, ENO3, LDHA, PGM1, DGUOK, HADHA, RRM2B, POLG, CPT2, SLC16A1, GAA, TWNK, ALDOA, ACADVL, AGL, ACADM Specificity 3 % Genes 100 %
POLG-Related Disorders - Sequencing. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States. POLG Specificity 100 % Genes 100 %
POLG-Related Disorders - Del/Dup Analysis. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States. POLG Specificity 100 % Genes 100 %
Childhood Epilepsy. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. ZEB2, SYN1, CNTNAP2, PNKP, NRXN1, WDR45, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B, PRICKLE1 , (...) View the complete list with 27 more genes Panel GTR000552155 complete gene list ZEB2, SYN1, CNTNAP2, PNKP, NRXN1, WDR45, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNB4, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, SLC2A1, MEF2C, FOXG1, CDKL5, CLN3, TPP1, SLC9A6, CTSD, GATM, GAMT, MECP2, POLG, ADSL, UBE3A Specificity 3 % Genes 100 %
Comprehensive Mitochondrial Metabolic Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. MT-TA, MT-TW, MT-TY, MT-TV, MT-TL2, MT-TM, MT-TF, MT-TR, MT-TD, MT-TC, MT-TQ, MT-TH, MT-TE, MT-ND4L, MT-TN, MT-TI, MT-TG, MT-TP, SCO1, COX10 , (...) View the complete list with 176 more genes Panel GTR000552176 complete gene list MT-TA, MT-TW, MT-TY, MT-TV, MT-TL2, MT-TM, MT-TF, MT-TR, MT-TD, MT-TC, MT-TQ, MT-TH, MT-TE, MT-ND4L, MT-TN, MT-TI, MT-TG, MT-TP, SCO1, COX10, NDUFB6, NDUFV3, NDUFA7, NDUFA8, COX4I1, COX7A1, MARS2, NDUFS5, MRRF, TFB1M, ACACB, MT-TT, MT-ATP8, MT-ND3, MT-CO3, MT-RNR2, MT-CO1, MT-ND5, MT-CO2, MT-ND2, MT-CYB, TFAM, MT-RNR1, NARS2, LARS2, MT-TS2, MT-TS1, MT-ND4, MT-ND6, MT-ND1, MT-ATP6, MT-TK, MT-TL1, SDHD, CPT1B, PDHX, MTFMT, FARS2, TACO1, PMM2, SLC25A20, SLC22A5, COX6B1, FASTKD2, LRPPRC, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, NAGS, SLC25A15, IVD, DLAT, SUCLG1, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFS6, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, CPT1A, ISCU, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, PGAM2, PHKB, LPIN1, TCN2, LMBRD1, MMADHC, PHKA1, TAZ, TIMM8A, PDHA1, OTC, PUS1, ETHE1, MPI, TYMP, SCO2, PCCA, PCCB, COQ2, NDUFA13, PDP1, HADHB, GFM1, TK2, POLG2, MRPS16, TSFM, TUFM, SLC25A3, DARS2, RARS2, GYS1, MRPS22, COQ8A, SUCLA2, SDHB, COX4I2, PGM1, PHKG2, KARS, G6PC, PYGL, NUBPL, NDUFA10, TTC19, NDUFAF1, PHKA2, SARS2, TMEM70, PDHB, DGUOK, PDSS1, PDSS2, COQ9, OPA3, HADHA, SDHC, SLC25A13, NDUFAF2, RRM2B, FOXRED1, SLC25A4, SLC25A19, POLG, DLD, TRMU, OPA1, CPT2, CPS1, MTRR, SLC37A4, SDHAF2, MMACHC, GAA, C12orf65, TWNK, BCS1L, AUH, ATPAF2, BTD, ATP5F1E, HLCS, UQCRB, ARG1, UQCRQ, GYS2, PC, YARS2, ACAT1, ACADVL, AGL, ACADM, ACADL, ACAD9, ACACA, AARS2, MCCC2, MCCC1 Specificity 1 % Genes 100 %
Epilepsy/Seizure. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. PSPH, PCBD1, ZEB2, CASK, OPHN1, SYN1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, DNAJC5, ADGRG1, PAFAH1B1 , (...) View the complete list with 78 more genes Panel GTR000552213 complete gene list PSPH, PCBD1, ZEB2, CASK, OPHN1, SYN1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, DNAJC5, ADGRG1, PAFAH1B1, TSEN54, FLNA, DCX, PRRT2, TBC1D24, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, CASR, GCH1, CACNA1A, SCN1A, CSTB, PHGDH, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, WDR62, SLC2A1, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, CLN3, TPP1, QDPR, PTS, ALDH7A1, ALDH5A1, SLC9A6, AMT, GLDC, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, POLG, ADGRV1, MMACHC, ADSL, BTD, UBE3A, MTHFR Specificity 2 % Genes 100 %
Infantile Epilepsy. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. PCBD1, ZEB2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, PNPO, KCNQ3, KCNQ2 , (...) View the complete list with 40 more genes Panel GTR000552301 complete gene list PCBD1, ZEB2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, PNPO, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, KCTD7, GCH1, SCN1A, PHGDH, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, SLC2A1, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, CLN3, TPP1, QDPR, PTS, ALDH7A1, ALDH5A1, SLC9A6, AMT, GLDC, SLC25A22, CTSD, STXBP1, GAMT, LIAS, MECP2, POLG, MMACHC, ADSL, BTD, UBE3A, MTHFR Specificity 2 % Genes 100 %
Migraine and Strokes Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. HTRA1, COL4A1, ATP1A2, CACNA1A, NOTCH3, SCN1A, SLC2A1, POLG Specificity 13 % Genes 100 %
Movement Disorders Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. VPS35, SLC6A3, DRD2, MR1, DDC, EARS2, FBXO7, MAT1A, SLC20A2, TPK1, SLC46A1, DRD5, TREM2, CSF1R, DCAF17, CP, FTL, ADAR, C19orf12, ERCC6 , (...) View the complete list with 72 more genes Panel GTR000552328 complete gene list VPS35, SLC6A3, DRD2, MR1, DDC, EARS2, FBXO7, MAT1A, SLC20A2, TPK1, SLC46A1, DRD5, TREM2, CSF1R, DCAF17, CP, FTL, ADAR, C19orf12, ERCC6, TAF1, AP1S2, FUCA1, VPS13A, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, WDR45, ATP13A2, PRRT2, KCNQ2, SLC19A3, ATP1A3, ATP1A2, CHMP2B, DCTN1, FA2H, KIF1A, SNCA, SGCE, LRRK2, GCH1, THAP1, TOR1A, CACNA1A, MAPT, PLA2G6, MCOLN1, TH, ATM, SLC2A1, PLP1, NPC2, FOXG1, GBA, ARX, ARSA, PDHX, PNKD, APTX, PRKN, CYP27A1, FASTKD2, GCDH, L2HGDH, DLAT, SDHAF1, MPV17, QDPR, PTS, SUOX, MMADHC, TIMM8A, SQSTM1, PINK1, PARK7, SUCLA2, SPR, GAMT, SCP2, PANK2, FOXRED1, AFG3L2, POLG, TRIM32, HPRT1, PSEN1, AUH, ATP7B, PTEN Specificity 2 % Genes 100 %
Parkinson's Disease. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. VPS35, SLC6A3, FBXO7, CSF1R, TAF1, ATP13A2, ATP1A3, DCTN1, SNCA, LRRK2, GCH1, MAPT, PLA2G6, TH, GBA, PRKN, PINK1, PARK7, POLG Specificity 6 % Genes 100 %
Progressive External Opthalmoplegia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. POLG2, RRM2B, SLC25A4, POLG, OPA1, TWNK Specificity 17 % Genes 100 %
POLG1 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. POLG Specificity 100 % Genes 100 %
POLG1 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. POLG Specificity 100 % Genes 100 %
Early Infantile Epileptic Encephalopathy Panel. By Genetic Services Laboratory University of Chicago in United States. KCNH5, NECAP1, CLCN4, CASK, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, ST3GAL3, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, DNM1, KCNA2, EEF1A2, CACNA2D2, ARFGEF2 , (...) View the complete list with 25 more genes Panel GTR000500153 complete gene list KCNH5, NECAP1, CLCN4, CASK, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, ST3GAL3, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, DNM1, KCNA2, EEF1A2, CACNA2D2, ARFGEF2, BRAT1, TBC1D24, ALG13, GRIN2A, GABRA1, CHD2, KCNQ2, KCNT1, HCN1, GRIN2B, SCN2A, ST3GAL5, GABRB3, EFHC1, SCN1A, SYNGAP1, SLC2A1, PCDH19, CDKL5, ARX, WWOX, ETHE1, SLC25A22, STXBP1, POLG Specificity 3 % Genes 100 %
Dystonia Exome Panel. By Genetic Services Laboratory University of Chicago in United States. NUP62, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, ECHS1, LIPT1, KCTD17, HPCA, XPR1, ANO3, HIVEP2, GNB1, DNAJC6, SLC39A14, VAC14, UBA5, TBCD, MECR , (...) View the complete list with 150 more genes Panel GTR000553219 complete gene list NUP62, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, ECHS1, LIPT1, KCTD17, HPCA, XPR1, ANO3, HIVEP2, GNB1, DNAJC6, SLC39A14, VAC14, UBA5, TBCD, MECR, KMT2B, MDH2, CLPB, SERAC1, PDGFB, PDGFRB, COX20, HEPACAM, MICU1, DNAJC12, PRKRA, TPI1, XK, VPS35, SLC6A3, DDC, EARS2, FBXO7, SLC20A2, TPK1, CSF1R, COX10, DCAF17, COASY, CP, FTL, ADAR, TUBB4A, C19orf12, IFIH1, HACE1, TOR1AIP1, NKX2-1, AARS, SLC16A2, TAF1, FUCA1, VPS13A, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, PNKP, SCN8A, WDR45, GNAO1, ATP13A2, MFSD8, DNAJC5, CTSF, COL4A1, PRRT2, TBC1D24, SYNJ1, SLC19A3, ATP1A3, ATP1A2, ALS2, FA2H, BSCL2, SGCE, GCH1, THAP1, TOR1A, PLA2G6, CLN5, MLC1, TH, PPT1, CLN8, CLN6, ATM, SLC2A1, PLP1, NPC2, NPC1, FOXG1, ARX, ARSA, SDHA, PDHX, SLC6A8, TACO1, PNKD, CLN3, TPP1, APTX, PRKN, CYP27A1, LRPPRC, GCDH, CBS, L2HGDH, DLAT, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFV1, NDUFS1, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, QDPR, PTS, SUOX, GM2A, HEXA, MMADHC, TIMM8A, PDHA1, SQSTM1, PINK1, PARK7, GRN, CTSD, HTRA2, COQ8A, SUCLA2, STXBP1, SPR, GAMT, SCP2, NDUFA10, TTC19, NDUFA9, NDUFA12, MECP2, PANK2, NDUFAF2, FOXRED1, AFG3L2, NDUFS4, POLG, HPRT1, GLB1, PSEN1, BCS1L, AUH, ATP7B, UQCRQ, AARS2 Specificity 1 % Genes 100 %
Ataxia Exome Panel. By Genetic Services Laboratory University of Chicago in United States. PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...) View the complete list with 460 more genes Panel GTR000553853 complete gene list PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1, UROC1, PMPCA, RUBCN, COQ4, SLC52A3, SLC9A1, MAPK10, YME1L1, LMNB1, ITM2B, FGF12, DGAT2, ARV1, STUB1, PUM1, OTUD4, NAT8L, ZIC4, VARS, TDP2, TRPC3, TELO2, SLC6A19, RNF168, ERCC5, SCYL1, RNF216, RNASEH1, RTN4IP1, ELOVL5, PTRH2, DMXL2, PCNA, PIK3R5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, COL18A1, DOCK3, ATCAY, BEAN1, CAMTA1, CACNA1G, CTBP1, ATP2B3, ATP8A2, RARS, NAXE, AAAS, NUP62, UBA5, MECR, COX20, TBCE, SEPSECS, XRCC4, ZIC1, CA8, CCDC88C, ARL6IP1, IBA57, TUBB, LRP4, DNAJC3, HEPACAM, HERC1, CSPP1, PDE6D, TMEM107, CEP120, CEP104, KIAA0556, SAMD9L, TCTN3, PGM3, SLC25A46, ADA2, SLC39A4, GSS, GCLC, LIG4, ERCC8, APOB, SLC20A2, TPK1, SLC46A1, PRNP, COG4, MT-TP, SCO1, COX10, MARS2, VLDLR, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, ERCC4, CP, FTL, GJA1, CTC1, RNASET2, HNRNPH2, PGK1, CTDP1, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, CPT1C, MAG, HACE1, CAPN1, KIDINS220, ERLIN1, ERCC6, CHMP1A, PIEZO2, GMPPB, FBXL4, NKX2-1, CAV1, IFT140, GAN, LRSAM1, MME, NALCN, TSEN2, TSEN34, EXOSC3, CLCN2, SLC16A2, DKC1, NEU1, MVK, PEX10, PEX26, PEX16, KIAA0586, AP1S2, PRPS1, SLC19A2, SOX10, DNMT1, POLR1C, ERCC3, CLPP, HTRA1, GFAP, CUL4B, CASK, OPHN1, OFD1, TCF4, KCNJ10, PNKP, SPTAN1, SCN8A, ROGDI, SLC13A5, SNAP25, KCNA2, ATP13A2, MFSD8, DNAJC5, CTSF, ADGRG1, TSEN54, RELN, DCX, BRAT1, PRRT2, TBC1D24, SCARB2, MBD5, LMNB2, EPM2A, KCNC1, KCNQ2, HCN1, FOLR1, SLC6A1, SCN2A, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, ATP1A3, ATP1A2, LARGE1, POMGNT2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, ISPD, POMT1, POMT2, TRAPPC11, SYNE1, VRK1, DYNC1H1, SETX, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, GCH1, CACNA1A, FKRP, AHI1, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, ATL1, GJB1, DNM2, EGR2, PMP22, MPZ, SH3TC2, PRX, TMEM216, PLA2G6, EIF2B5, CLN5, TTPA, SUMF1, SLC17A5, POMGNT1, PEX1, MLC1, TH, SACS, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, PRF1, SDHD, NF2, MRE11, ATM, WDR62, TINF2, SLC2A1, PLP1, PCDH19, NPC2, NPC1, GJC2, FOXG1, EIF2B1, CDKL5, ARSA, PNP, SDHA, MTFMT, FARS2, TACO1, SOD1, PNKD, WWOX, TPP1, ASL, APTX, MKS1, PMM2, CYP27A1, ASS1, COX6B1, FASTKD2, LRPPRC, FXN, GBE1, L2HGDH, GALC, DLAT, SUCLG1, DBT, HIBCH, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, MPV17, PTS, PHYH, HEXB, ALDH5A1, SUOX, HEXA, TCN2, MMADHC, ABCD1, SLC9A6, ABCB7, PDHA1, OTC, SQSTM1, ETHE1, TYMP, ALG6, SPG7, COQ2, GRN, DPM1, FLVCR1, MPDU1, CTSD, DNAJC19, REEP1, TSFM, DARS2, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, SPR, GAMT, GPI, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, TMEM70, PDHB, ALDH18A1, COX14, NDUFA9, NDUFB3, HARS, NDUFA12, ACO2, COQ6, PDSS1, PDSS2, COQ9, MECP2, OPA3, PANK2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, HSPD1, NDUFS4, POLG, DLD, CEP290, NPHP1, TMEM67, ELOVL4, CC2D2A, GLB1, PSAP, WFS1, OPA1, CPS1, HSD17B4, AMACR, INPP5E, PSEN1, PAX6, PRKCG, ADSL, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, BTD, HLCS, UQCRB, UQCRQ, PC, ABHD12, AARS2, UBE3A, TTR, FMR1 Specificity 1 % Genes 100 %
Epilepsy Panel - Comprehensive. By Molecular Genetics Laboratory London Health Sciences Centre in Canada. PSAT1, CERS1, PSPH, NECAP1, NEU1, ZEB2, CNTNAP2, TCF4, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, DOCK7, DNM1, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5 , (...) View the complete list with 49 more genes Panel GTR000530238 complete gene list PSAT1, CERS1, PSPH, NECAP1, NEU1, ZEB2, CNTNAP2, TCF4, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, DOCK7, DNM1, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5, LMNB2, GRIN2A, EPM2A, CHD2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SCN2A, SCN1B, SCN9A, PRICKLE2, KCTD7, NHLRC1, GOSR2, ATP1A3, ATP1A2, KCNJ2, KCNJ11, SCN1A, CSTB, PHGDH, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, SLC6A8, MOCS1, ALDH7A1, SUOX, SLC9A6, AMT, GLDC, STXBP1, GATM, GAMT, MECP2, POLG, UBE3A Specificity 2 % Genes 100 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication). By ARUP Laboratories, Molecular Genetics and Genomics in United States. PPM1B, PREPL, HADH, MT-TA, MT-TW, MT-TY, MT-TV, MT-TL2, MT-TM, MT-TF, MT-TR, MT-TD, MT-TC, MT-TQ, MT-TH, MT-TE, MT-ND4L, MT-TN, MT-TI, MT-TG , (...) View the complete list with 132 more genes Panel GTR000500880 complete gene list PPM1B, PREPL, HADH, MT-TA, MT-TW, MT-TY, MT-TV, MT-TL2, MT-TM, MT-TF, MT-TR, MT-TD, MT-TC, MT-TQ, MT-TH, MT-TE, MT-ND4L, MT-TN, MT-TI, MT-TG, MT-TP, SCO1, COX10, MT-TT, MT-ATP8, MT-ND3, MT-CO3, MT-RNR2, MT-CO1, MT-CO2, MT-ND2, MT-CYB, LARS2, MT-TS2, MT-TS1, MT-ATP6, MT-TK, MT-TL1, SDHD, PDHX, APTX, SLC25A20, SLC22A5, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, FXN, ETFDH, ETFA, ETFB, SLC25A15, OXCT1, DLAT, SUCLG1, DBT, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, CPT1A, ISCU, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, SUOX, ABCB7, TAZ, TIMM8A, PDHA1, PUS1, ETHE1, TYMP, SCO2, PINK1, HMGCS2, SPG7, COQ2, PDP1, HADHB, GFM1, SLC25A22, TK2, POLG2, DNAJC19, MRPS16, TSFM, TUFM, SLC25A3, DARS2, RARS2, MRPS22, CYCS, COQ8A, SUCLA2, SDHB, COX4I2, GFER, HMGCL, NDUFAF1, PCK2, TMEM70, PDHB, DGUOK, DNM1L, PDSS1, PDSS2, COQ9, FH, HADHA, SDHC, MFN2, SLC25A13, NDUFAF2, RRM2B, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, WFS1, TRMU, OPA1, CPT2, TWNK, BCS1L, BCKDHB, BCKDHA, ATPAF2, UQCRB, UQCRQ, PC, ACAT1, ACADVL, ACADS, ACADM, ACADL, ACAD9, MCCC2 Specificity 1 % Genes 100 %
Comprehensive Epilepsy Panel. By GeneDx in United States. ZEB2, ATP6AP2, SYN1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, DNAJC5, SRPX2, PRRT2, TBC1D24, SCARB2, MBD5, GRIN2A , (...) View the complete list with 50 more genes Panel GTR000520979 complete gene list ZEB2, ATP6AP2, SYN1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, DNAJC5, SRPX2, PRRT2, TBC1D24, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, GRIN2B, FOLR1, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, ATP1A2, CACNB4, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, CLN3, TPP1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, LIAS, MECP2, POLG, ADSL, UBE3A Specificity 2 % Genes 100 %
STAT Epilepsy Panel. By GeneDx in United States. SPTAN1, SCN8A, PNPO, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, SCN1A, SLC2A1, PCDH19, MEF2C, CDKL5, ARX, ALDH7A1, STXBP1, MECP2, POLG Specificity 6 % Genes 100 %
Infantile Epilepsy Panel. By GeneDx in United States. ZEB2, ATP6AP2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, PNPO, KCNQ3 , (...) View the complete list with 33 more genes Panel GTR000520995 complete gene list ZEB2, ATP6AP2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, PNPO, KCNQ3, KCNQ2, GRIN2B, FOLR1, SCN2A, SCN1B, KCTD7, SCN1A, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, CLN3, TPP1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GAMT, LIAS, MECP2, POLG, ADSL, UBE3A Specificity 2 % Genes 100 %
Childhood-Onset Epilepsy Panel. By GeneDx in United States. ZEB2, SYN1, CNTNAP2, TCF4, PNKP, NRXN1, KANSL1, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B , (...) View the complete list with 30 more genes Panel GTR000520996 complete gene list ZEB2, SYN1, CNTNAP2, TCF4, PNKP, NRXN1, KANSL1, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNB4, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, CLN3, TPP1, SLC9A6, CTSD, GATM, GAMT, MECP2, POLG, ADSL, UBE3A Specificity 2 % Genes 100 %
CustomNext: Neuro. By Ambry Genetics in United States. KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...) View the complete list with 176 more genes Panel GTR000560527 complete gene list KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3, FTSJ1, GDI1, ZC4H2, UPF3B, UBE2A, DLG3, LAMP2, HUWE1, PHF8, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, PQBP1, DCX, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, KIF1A, L1CAM, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, GPC3, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, SLC2A1, RAI1, PTPN11, PORCN, PLP1, PCDH19, MEF2C, IDS, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, ARX, SLC6A8, CLN3, TPP1, NDUFA1, ALDH7A1, ABCD1, SLC9A6, ACSL4, MAOA, TIMM8A, PDHA1, OTC, GRN, SLC25A22, CTSD, TUSC3, STXBP1, GATM, GAMT, MECP2, POLG, NHS, HPRT1, NDP, OCRL, ATP7A, PTEN, UBE3A, FMR1 Specificity 1 % Genes 100 %
Neurodevelopment-Expanded. By Ambry Genetics in United States. KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...) View the complete list with 176 more genes Panel GTR000560603 complete gene list KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3, FTSJ1, GDI1, ZC4H2, UPF3B, UBE2A, DLG3, LAMP2, HUWE1, PHF8, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, PQBP1, DCX, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, KIF1A, L1CAM, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, GPC3, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, SLC2A1, RAI1, PTPN11, PORCN, PLP1, PCDH19, MEF2C, IDS, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, ARX, SLC6A8, CLN3, TPP1, NDUFA1, ALDH7A1, ABCD1, SLC9A6, ACSL4, MAOA, TIMM8A, PDHA1, OTC, GRN, SLC25A22, CTSD, TUSC3, STXBP1, GATM, GAMT, MECP2, POLG, NHS, HPRT1, NDP, OCRL, ATP7A, PTEN, UBE3A, FMR1 Specificity 1 % Genes 100 %
EpilepsyNext. By Ambry Genetics in United States. ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...) View the complete list with 80 more genes Panel GTR000560538 complete gene list ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, DCX, PRRT2, DEPDC5, TBC1D24, SCARB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, ALDH7A1, SLC9A6, GRN, SLC25A22, CTSD, STXBP1, GATM, GAMT, MECP2, POLG, UBE3A Specificity 1 % Genes 100 %
EpiRapid. By Ambry Genetics in United States. SCN8A, PRRT2, PNPO, KCNQ3, KCNQ2, KCNT1, FOLR1, SCN1A, TSC1, TSC2, SLC2A1, PCDH19, ALDH7A1, STXBP1, MECP2, POLG Specificity 7 % Genes 100 %
EpiRapid reflex EpilepsyNext. By Ambry Genetics in United States. ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...) View the complete list with 80 more genes Panel GTR000560540 complete gene list ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, DCX, PRRT2, DEPDC5, TBC1D24, SCARB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, ALDH7A1, SLC9A6, GRN, SLC25A22, CTSD, STXBP1, GATM, GAMT, MECP2, POLG, UBE3A Specificity 1 % Genes 100 %
POLG. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. POLG Specificity 100 % Genes 100 %
POLG. Detection of the mutations p.Thr251Ile, p.Ala467Thr, p. Pro587Leu, p.Trp748Ser and p.Gly848Ser by sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. POLG Specificity 100 % Genes 100 %
MECP2, SCN1B, GABRG2, LGI1, POLG, POLG2, SLC25A22, SPTAN1, SRPX2. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SPTAN1, SRPX2, GABRG2, SCN1B, LGI1, SLC25A22, POLG2, MECP2, POLG Specificity 12 % Genes 100 %
Rapid Epilepsy Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SCN8A, KCNB1, GRIN2A, EPM2A, PNPO, KCNQ2, GRIN2B, SCN2A, NHLRC1, SCN1A, CSTB, SLC2A1, SLC6A8, ALDH7A1, GATM, GAMT, POLG Specificity 6 % Genes 100 %
Rapid Epilepsy Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SCN8A, KCNB1, GRIN2A, EPM2A, PNPO, KCNQ2, GRIN2B, SCN2A, NHLRC1, SCN1A, CSTB, SLC2A1, SLC6A8, ALDH7A1, GATM, GAMT, POLG Specificity 6 % Genes 100 %
CHOP Epilepsy Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. PIGT, SLC12A5, HDAC4, CNKSR2, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, KCNJ10, PNKP, SPTAN1, PLCB1, GRIN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...) View the complete list with 69 more genes Panel GTR000553482 complete gene list PIGT, SLC12A5, HDAC4, CNKSR2, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, KCNJ10, PNKP, SPTAN1, PLCB1, GRIN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, SLC13A5, KCNB1, PURA, DNM1, KCNA2, EEF1A2, HNRNPU, MFSD8, RELN, QARS, PIGO, PRRT2, DEPDC5, TBC1D24, ASAH1, ALG13, SCARB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, PNPO, KCNQ3, KCNQ2, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GABRB3, LGI1, KCNA1, DYNC1H1, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, SLC6A8, WWOX, CLN3, TPP1, ALDH7A1, SLC25A22, CTSD, STXBP1, GATM, GAMT, MECP2, POLG, UBE3A Specificity 2 % Genes 100 %
Rapid Epilepsy Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SCN8A, KCNB1, GRIN2A, EPM2A, PNPO, KCNQ2, GRIN2B, SCN2A, NHLRC1, SCN1A, CSTB, SLC2A1, SLC6A8, ALDH7A1, GATM, GAMT, POLG Specificity 6 % Genes 100 %
Mitochondrial DNA depletion syndrome 4A-Alpers/4B-MNGIE (sequence analysis of POLG gene). By CGC Genetics in Portugal. POLG Specificity 100 % Genes 100 %
Autosomal Recessive Progressive External Ophthalmoplegia (sequence analysis of POLG gene). By CGC Genetics in Portugal. POLG Specificity 100 % Genes 100 %
Progressive external ophthalmoplegia (sequence analysis of POLG gene). By CGC Genetics in Portugal. POLG Specificity 100 % Genes 100 %
Childhood Myocerebrohepatopathy Spectrum Disorders (sequence analysis of POLG gene). By CGC Genetics in Portugal. POLG Specificity 100 % Genes 100 %
Mitochondrial DNA depletion syndrome 4A/4B (mutations A467T, W748S and G848S on POLG gene). By CGC Genetics in Portugal. POLG Specificity 100 % Genes 100 %
Myoclonic Epilepsy Myopathy Sensory Ataxia (sequence analysis of POLG gene). By CGC Genetics in Portugal. POLG Specificity 100 % Genes 100 %
POLG-Related Ataxia Neuropathy Spectrum Disorders (sequence analysis of POLG gene). By CGC Genetics in Portugal. POLG Specificity 100 % Genes 100 %
Spinocerebellar ataxia with epilepsy (sequence analysis of POLG gene). By CGC Genetics in Portugal. POLG Specificity 100 % Genes 100 %
Hereditary ataxias (NGS panel for 44 genes). By CGC Genetics in Portugal. PLEKHG4, TMEM240, ZNF592, ELOVL5, PIK3R5, CCDC88C, VLDLR, DNMT1, PNKP, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, SIL1 , (...) View the complete list with 24 more genes Panel GTR000523795 complete gene list PLEKHG4, TMEM240, ZNF592, ELOVL5, PIK3R5, CCDC88C, VLDLR, DNMT1, PNKP, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, SYNE1, SETX, CACNA1A, TTPA, SACS, MTTP, MRE11, ATM, APTX, FXN, ABCB7, COQ8A, MTPAP, AFG3L2, POLG, ELOVL4, PRKCG, ABHD12 Specificity 3 % Genes 100 %
Parkinson disease (NGS panel for 33 genes). By CGC Genetics in Portugal. SNCAIP, PDXK, GIGYF2, ADH1C, EIF4G1, DNAJC6, PRKRA, VPS35, SLC6A3, FBXO7, CSF1R, FTL, UCHL1, TAF1, ATP6AP2, ATP13A2, SYNJ1, ATP1A3, DCTN1, SNCA , (...) View the complete list with 12 more genes Panel GTR000523999 complete gene list SNCAIP, PDXK, GIGYF2, ADH1C, EIF4G1, DNAJC6, PRKRA, VPS35, SLC6A3, FBXO7, CSF1R, FTL, UCHL1, TAF1, ATP6AP2, ATP13A2, SYNJ1, ATP1A3, DCTN1, SNCA, LRRK2, GCH1, MAPT, PLA2G6, TH, GBA, SNCB, PRKN, PINK1, PARK7, HTRA2, POLG Specificity 4 % Genes 100 %
Sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO, sequence analysis of POLG gene). By CGC Genetics in Portugal. POLG Specificity 100 % Genes 100 %
Mitochondrial DNA depletion syndrome 4A-Alpers/4B-MNGIE (deletion/duplication analysis of POLG gene). By CGC Genetics in Portugal. POLG Specificity 100 % Genes 100 %
Progressive external ophthalmoplegia (NGS panel of 12 genes). By CGC Genetics in Portugal. RNASEH1, DNA2, MGME1, TYMP, TK2, POLG2, DGUOK, RRM2B, SLC25A4, POLG, OPA1, TWNK Specificity 9 % Genes 100 %
Mitochondrial DNA depletion syndrome 4A-Alpers/4B-MNGIE (deletion/duplication analysis of POLG gene). By CGC Genetics in Portugal. POLG Specificity 100 % Genes 100 %
Progressive external ophthalmoplegia (NGS panel of 12 genes). By CGC Genetics in Portugal. RNASEH1, DNA2, MGME1, TYMP, TK2, POLG2, DGUOK, RRM2B, SLC25A4, POLG, OPA1, TWNK Specificity 9 % Genes 100 %
POLG Sequence Analysis. By Translational Metabolic Laboratory Radboud University Medical Centre in Netherlands. POLG Specificity 100 % Genes 100 %
POLG-Related Disorders. By Laboratory of Genetics HUSLAB in Finland. POLG Specificity 100 % Genes 100 %
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TNK2, NPRL2, ACY1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2, SLC13A5, KCNB1, KCNA2, MFSD8, CTSF , (...) View the complete list with 62 more genes Panel GTR000522337 complete gene list TNK2, NPRL2, ACY1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2, SLC13A5, KCNB1, KCNA2, MFSD8, CTSF, RELN, ARFGEF2, BCKDK, PIGO, PRRT2, DEPDC5, TBC1D24, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, FOLR1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CHRNB2, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, FARS2, WWOX, CLN3, TPP1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GAMT, MECP2, POLG, ADSL Specificity 2 % Genes 100 %
POLG-Related Mitochondrial Disorders via the POLG Gene. By PreventionGenetics PreventionGenetics in United States. POLG Specificity 100 % Genes 100 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CARS2, KCNH1, SLC1A2, PLPBP, SON, RORB, HCN2, GRIN2D, FRRS1L, CAD, NACC1, TNK2, NPRL2, NPRL3, SCN10A, PIGG, ACY1, GNB1, TUBG1, IER3IP1 , (...) View the complete list with 133 more genes Panel GTR000558846 complete gene list CARS2, KCNH1, SLC1A2, PLPBP, SON, RORB, HCN2, GRIN2D, FRRS1L, CAD, NACC1, TNK2, NPRL2, NPRL3, SCN10A, PIGG, ACY1, GNB1, TUBG1, IER3IP1, SMARCA2, AARS, TUBB2A, MTOR, NEDD4L, CLCN2, NECAP1, GFAP, ZEB2, CASK, ATP6AP2, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, PIGV, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, DNM1, KCNA2, EEF1A2, SPATA5, HNRNPU, MFSD8, CTSF, TUBB2B, SRPX2, TUBA8, RELN, QARS, DCX, ARFGEF2, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, CACNB4, CACNA1A, SCN1A, CSTB, CLN5, SLC17A5, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, FARS2, WWOX, CLN3, TPP1, ALDH7A1, SLC9A6, SLC25A22, CTSD, TUBA1A, STXBP1, GAMT, MECP2, POLG, TUBB3, ADSL, UBE3A Specificity 1 % Genes 100 %
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PRDM12, CLTCL1, ATL3, SCN11A, NGF, RETREG1, DST, CCT5, DNMT1, SCN9A, KIF1A, ATL1, SPTLC1, WNK1, NTRK1, RAB7A, ELP1, FLVCR1, SPTLC2, POLG Specificity 5 % Genes 100 %
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DNA2, FBXL4, SUCLG2, MGME1, APTX, SUCLG1, MPV17, TYMP, SPG7, TK2, POLG2, SLC25A3, SUCLA2, DGUOK, AGK, OPA3, MFN2, RRM2B, SLC25A4, POLG , (...) View the complete list with 2 more genes Panel GTR000515550 complete gene list DNA2, FBXL4, SUCLG2, MGME1, APTX, SUCLG1, MPV17, TYMP, SPG7, TK2, POLG2, SLC25A3, SUCLA2, DGUOK, AGK, OPA3, MFN2, RRM2B, SLC25A4, POLG, OPA1, TWNK Specificity 5 % Genes 100 %
Optic Atrophy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. NR2F1, NDUFS1, TIMM8A, CISD2, SPG7, TMEM126A, MTPAP, SLC24A1, ACO2, OPA3, MFN2, POLG, WFS1, OPA1, C12orf65, AUH Specificity 7 % Genes 100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ISCA2, JAM3, LYRM7, DARS, AIMP1, PEX11B, COL4A2, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, SLC25A1, IBA57, HEPACAM, OCLN, ERCC8, EARS2 , (...) View the complete list with 134 more genes Panel GTR000560807 complete gene list ISCA2, JAM3, LYRM7, DARS, AIMP1, PEX11B, COL4A2, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, SLC25A1, IBA57, HEPACAM, OCLN, ERCC8, EARS2, TREM2, CSF1R, COX10, MARS2, DCAF17, GJA1, CTC1, RNASET2, ADAR, CYP2U1, TUBB4A, ERCC6, GAN, CLCN2, SLC16A2, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, SOX10, POLR1C, CLPP, HTRA1, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, ADGRG1, COL4A1, FOLR1, SLC19A3, DAG1, SPART, FA2H, CYP7B1, NOTCH3, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, GJB1, EIF2B5, SUMF1, SLC17A5, PEX1, MCOLN1, MLC1, PPT1, PEX2, PLP1, NPC2, NPC1, IKBKG, IDS, GLA, GJC2, EIF2B1, ASPA, ARSA, AGA, MTFMT, FARS2, CYP27A1, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, L2HGDH, GALC, NDUFS2, NDUFV1, NDUFS1, SDHAF1, MOCS1, NDUFS8, SURF1, COX15, TCIRG1, PAH, ACOX1, ALDH3A2, ALDH5A1, HEXA, ABCD1, OTC, D2HGDH, TYMP, SPG7, COQ2, GFM1, TUFM, DARS2, MRPS22, SUCLA2, SDHB, SLC25A12, IDH2, SCP2, NUBPL, HMGCL, NFU1, BOLA3, DGUOK, DNM1L, COQ9, FH, RRM2B, SLC25A4, HSPD1, NDUFS4, POLG, OCRL, GLB1, PSAP, CPS1, HSD17B4, ADSL, TWNK, ATP7B, ATP7A, TYROBP, PC Specificity 1 % Genes 100 %
Mitochondrial Complex I Deficiency Sequencing Panel with CNV Detection (Nuclear Genes). By PreventionGenetics PreventionGenetics in United States. NDUFB9, MTFMT, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, NDUFA2, NDUFA13, NUBPL, NDUFA10 , (...) View the complete list with 9 more genes Panel GTR000552881 complete gene list NDUFB9, MTFMT, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, NDUFA2, NDUFA13, NUBPL, NDUFA10, NDUFAF1, NDUFA9, NDUFB3, NDUFA12, NDUFAF2, FOXRED1, NDUFS4, POLG, ACAD9 Specificity 4 % Genes 100 %
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel. By PreventionGenetics PreventionGenetics in United States. FLAD1, GYG1, RBCK1, HADH, PGK1, FDX2, AMPD1, LAMP2, SIL1, RYR1, ANO5, DYSF, FKRP, FKTN, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1 , (...) View the complete list with 39 more genes Panel GTR000553713 complete gene list FLAD1, GYG1, RBCK1, HADH, PGK1, FDX2, AMPD1, LAMP2, SIL1, RYR1, ANO5, DYSF, FKRP, FKTN, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CPT1A, ISCU, PGAM2, LPIN1, ABHD5, PHKA1, TAZ, TYMP, COQ2, HADHB, TK2, POLG2, PNPLA2, GYS1, COQ8A, SUCLA2, ENO3, LDHA, PGM1, PDSS1, PDSS2, COQ9, OPA3, HADHA, RRM2B, POLG, OPA1, CPT2, AMACR, GAA, TWNK, ALDOA, ACADVL, AGL, ACADS, ACADM, ACAD9 Specificity 2 % Genes 100 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3 , (...) View the complete list with 202 more genes Panel GTR000561534 complete gene list DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3, PIGP, PPP2R1A, PIGQ, GABRB1, GABBR2, GAL, CLTC, CARS2, KCNH1, PLPBP, RORB, HCN2, GRIN2D, FRRS1L, CAD, NPRL2, NPRL3, NGLY1, GPHN, SLC12A5, GLRA1, DDX3X, CERS1, PIGG, PRDM8, COQ4, FGF12, ARV1, HIVEP2, UBA5, MDH2, KCNH5, C12orf57, NTRK2, PACS1, RANBP2, TPK1, IER3IP1, SATB2, DNMT3A, NAGA, MTOR, NEDD4L, NECAP1, CLCN4, ZDHHC9, ARID1B, EHMT1, DIAPH1, ZEB2, CASK, ATP6AP2, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, HNRNPU, CACNA2D2, RBFOX1, MFSD8, DNAJC5, SRPX2, FLNA, RELN, QARS, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, CACNB4, KCNA1, CASR, SGCE, NF1, CACNA1A, SCN1A, CSTB, CLN5, SLC35A3, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, CBL, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, FARS2, PNKD, WWOX, CLN3, TPP1, ALDH7A1, ALDH5A1, SLC9A6, AMT, GLDC, GCSH, SLC25A22, CTSD, STXBP1, GATM, GAMT, SLC25A12, ABAT, DHDDS, LIAS, MECP2, POLG, ADSL, PTEN, UBE3A Specificity 1 % Genes 100 %
Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection. By PreventionGenetics PreventionGenetics in United States. IARS2, GFM2, GTPBP3, COX8A, NDUFA4, PET100, ECHS1, LIPT1, SERAC1, EARS2, TPK1, COX10, FBXL4, NARS2, PNPT1, SLC19A3, PDHX, MTFMT, FARS2, TACO1 , (...) View the complete list with 43 more genes Panel GTR000561678 complete gene list IARS2, GFM2, GTPBP3, COX8A, NDUFA4, PET100, ECHS1, LIPT1, SERAC1, EARS2, TPK1, COX10, FBXL4, NARS2, PNPT1, SLC19A3, PDHX, MTFMT, FARS2, TACO1, LRPPRC, DLAT, SUCLG1, HIBCH, NDUFAF5, NDUFS2, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA1, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, AIFM1, PDHA1, ETHE1, SCO2, GFM1, TSFM, SUCLA2, NUBPL, NDUFA10, TTC19, PDHB, NDUFA9, LIAS, NDUFA12, PDSS2, COQ9, NDUFAF2, FOXRED1, NDUFS4, POLG, DLD, C12orf65, BCS1L, UQCRQ Specificity 2 % Genes 100 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection. By PreventionGenetics PreventionGenetics in United States. COA7, TRIT1, SFXN4, NSUN3, COQ5, TMEM126B, TRMT10C, RMND1, VARS2, TARS2, LYRM4, MRPL12, TRMT5, PARS2, MRPS7, MRPS23, MRPL44, COX7B, NDUFB11, COQ7 , (...) View the complete list with 154 more genes Panel GTR000561691 complete gene list COA7, TRIT1, SFXN4, NSUN3, COQ5, TMEM126B, TRMT10C, RMND1, VARS2, TARS2, LYRM4, MRPL12, TRMT5, PARS2, MRPS7, MRPS23, MRPL44, COX7B, NDUFB11, COQ7, IARS2, GFM2, GTPBP3, COX8A, NDUFA4, COA3, COA6, CYC1, LYRM7, UQCC2, UQCC3, NDUFB9, CARS2, ATP5F1A, UQCRC2, APOPT1, PET100, COA5, COQ4, RNASEH1, ECHS1, LIPT1, SERAC1, COX20, SLC25A1, IBA57, COQ8B, EARS2, TPK1, SCO1, COX10, NDUFV3, MARS2, DNA2, FBXL4, COX6A1, NARS2, LARS2, PNPT1, SLC19A3, SDHD, MGME1, PDHX, MTFMT, HARS2, FARS2, TACO1, APTX, COX6B1, FASTKD2, LRPPRC, ETFDH, ETFA, ETFB, DLAT, SUCLG1, HIBCH, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, AIFM1, TAZ, PDHA1, PUS1, ETHE1, TYMP, SCO2, SPG7, COQ2, NDUFA13, PDP1, HADHB, GFM1, TK2, POLG2, MRPS16, TSFM, TUFM, SLC25A3, DARS2, RARS2, MRPS22, COQ8A, SUCLA2, SDHB, GFER, KARS, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, NFU1, SARS2, TMEM70, PDHB, BOLA3, DGUOK, AGK, COX14, NDUFA9, NDUFB3, LIAS, NDUFA12, MRPL3, COQ6, PDSS1, PDSS2, COQ9, MTO1, OPA3, HADHA, FLAD1, ISCA2, MFN2, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, NDUFS4, POLG, DLD, TRMU, OPA1, ELAC2, C12orf65, TWNK, BCS1L, ATPAF2, ATP5F1E, UQCRB, UQCRQ, YARS2, ACAD9, AARS2 Specificity 1 % Genes 100 %
Neuropathy. By MGZ Medical Genetics Center in Germany. KLHL13, MICAL1, SH3BP4, LARS, CLP1, DCAF8, ATL3, SCN11A, IFRD1, FAM126A, ARHGEF10, NGF, RETREG1, SCN10A, CHCHD10, SLC52A3, SLC52A2, AAAS, ABCA1, COX10 , (...) View the complete list with 102 more genes Panel GTR000521130 complete gene list KLHL13, MICAL1, SH3BP4, LARS, CLP1, DCAF8, ATL3, SCN11A, IFRD1, FAM126A, ARHGEF10, NGF, RETREG1, SCN10A, CHCHD10, SLC52A3, SLC52A2, AAAS, ABCA1, COX10, CTDP1, SLC5A7, TNNT2, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, PDK3, PLEKHG5, MARS, SMAD3, LAS1L, PEX12, MYH14, PRPS1, DNMT1, SCN9A, TDP1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, UBQLN2, VAPB, ANG, TARDBP, DCTN1, SETX, FUS, ALS2, KIF1A, BSCL2, NIPA1, KIF5A, SPAST, MATR3, INF2, SPG11, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, SACS, PLP1, ELP1, SOD1, SEPT9, CYP27A1, FXN, GBE1, HK1, NDUFAF5, SURF1, HEXA, AIFM1, PDHA1, SQSTM1, TYMP, HADHB, REEP1, SPTLC2, KARS, HARS, VCP, HADHA, MFN2, GARS, POLG, AMACR, OPTN, FBLN5, GAA, C12orf65, ATP7A, ABHD12, TTR Specificity 1 % Genes 100 %
POLG-Related Disorders. By MGZ Medical Genetics Center in Germany. POLG Specificity 100 % Genes 100 %
Kearns Sayre syndrome. By MGZ Medical Genetics Center in Germany. MGME1, TK2, POLG2, RRM2B, SLC25A4, POLG, C12orf65 Specificity 15 % Genes 100 %
Mitochondrial Depletion. By MGZ Medical Genetics Center in Germany. MGME1, SUCLG1, MPV17, AIFM1, TYMP, TK2, SUCLA2, GFER, DGUOK, RRM2B, POLG, TWNK Specificity 9 % Genes 100 %
Mitochondrial Ataxia. By MGZ Medical Genetics Center in Germany. MARS2, TACO1, APTX, ABCB7, SPG7, COQ8A, MTPAP, AFG3L2, POLG, C12orf65 Specificity 10 % Genes 100 %
Combined Respiratory Chain Defects. By MGZ Medical Genetics Center in Germany. RMND1, EARS2, MARS2, MTFMT, HARS2, FARS2, TACO1, LRPPRC, SUCLG1, MPV17, PUS1, TYMP, GFM1, TK2, MRPS16, TSFM, TUFM, DARS2, RARS2, MRPS22 , (...) View the complete list with 12 more genes Panel GTR000514837 complete gene list RMND1, EARS2, MARS2, MTFMT, HARS2, FARS2, TACO1, LRPPRC, SUCLG1, MPV17, PUS1, TYMP, GFM1, TK2, MRPS16, TSFM, TUFM, DARS2, RARS2, MRPS22, SUCLA2, GFER, MTPAP, SARS2, DGUOK, MTO1, RRM2B, POLG, TRMU, C12orf65, YARS2, AARS2 Specificity 4 % Genes 100 %
Vascular and connective tissue diseases - panels. By MGZ Medical Genetics Center in Germany. JAM3, AIMP1, CST3, COL4A2, ADAMTSL4, ADA2, MAT2A, MFAP5, PRKG1, ADAR, ADCY6, TGFB3, BMPR2, EFEMP2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1, ZNF469 , (...) View the complete list with 47 more genes Panel GTR000552434 complete gene list JAM3, AIMP1, CST3, COL4A2, ADAMTSL4, ADA2, MAT2A, MFAP5, PRKG1, ADAR, ADCY6, TGFB3, BMPR2, EFEMP2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, AFF2, AGTR2, CACNA1C, HTRA1, TREX1, FLNA, COL4A1, AGRN, NOTCH3, ADAMTS2, ENG, PLOD1, GLA, COL5A2, COL5A1, CBS, AIFM1, OTC, COQ8A, SLC39A13, AGK, FBN1, AFG3L2, POLG, AMACR, COL3A1, COL1A2, COL1A1, ADSL, B4GALT7, AGL, TTR Specificity 2 % Genes 100 %
Hepatic and pancreatic diseases - panels. By MGZ Medical Genetics Center in Germany. UTP4, SLC27A5, ALAD, MYO5B, NR1H4, HMBS, UROD, PEX11B, SLCO1B3, SLCO1B1, HSD3B7, NOTCH2, EPHX1, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, UROS , (...) View the complete list with 49 more genes Panel GTR000552436 complete gene list UTP4, SLC27A5, ALAD, MYO5B, NR1H4, HMBS, UROD, PEX11B, SLCO1B3, SLCO1B1, HSD3B7, NOTCH2, EPHX1, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, UROS, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX14, TJP2, PEX6, CYP7B1, TMEM216, PKHD1, PEX1, SERPINA1, PEX7, PEX2, NPC2, NPC1, LIPA, DHCR7, CFTR, CPOX, PPOX, FECH, MKS1, CYP27A1, ASS1, GALT, MPV17, FAH, DGUOK, SMPD1, SLC25A13, ALAS2, POLG, NPHP4, NPHP1, NPHP3, JAG1, CC2D2A, TRMU, HNF1B, INVS, ATP8B1, ATP7B, ABCB4, ABCB11, HFE Specificity 2 % Genes 100 %
Neurogenetic Disorders - panels. By MGZ Medical Genetics Center in Germany. PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2 , (...) View the complete list with 577 more genes Panel GTR000552437 complete gene list PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2, TRMT5, PARS2, MRPS7, MRPL44, NDUFB11, COQ7, IARS2, GTPBP3, COX8A, ARHGEF15, FLAD1, ISCA2, LYRM7, ARSI, USP8, WDR48, ZFR, NDUFB9, ATP2B4, CARS2, CAD, LARS, ATP5F1A, NPRL3, CACNA1B, EXOSC8, CLP1, AIMP1, UQCRC2, TALDO1, GPHN, PDE8B, SLC52A3, LMNB1, DGAT2, STUB1, SLC6A19, RNF216, RNASEH1, PTRH2, PIK3R5, NOL3, GRID2, SLC52A2, CACNA1G, ATP8A2, RARS, AAAS, ACY1, SLC30A10, ADCY5, GNAL, ECHS1, KCTD17, HPCA, ANO3, UBA5, CLPB, SERAC1, PDGFB, SLC1A4, PYCR2, SEPSECS, AMPD2, XRCC4, KCNH5, GRIK2, ARL6IP1, IBA57, ALG14, LRP4, PREPL, DNAJC3, HEPACAM, MICU1, SLC25A46, EPG5, PRKRA, RANBP2, XK, COQ8B, VPS35, EIF2AK3, ABCA1, APOB, HADH, SLC6A3, MR1, EARS2, FBXO7, TPK1, PRNP, CSF1R, SCO1, COX10, MARS2, DCAF17, COASY, CP, FTL, NBAS, GJA1, CCT5, RNASET2, ACTG2, FDX2, STAMBP, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, CPT1C, MAG, REEP2, ERLIN1, MYBPC1, GMPPB, TOR1AIP1, HNRNPDL, DNA2, FBXL4, NKX2-1, TBK1, LYST, GAN, TFG, MARS, TUBB2A, EXOSC3, CLCN2, CLCN4, SLC16A2, TAF1, LAMP2, HCFC1, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, CHD8, CACNA1C, FUCA1, NARS2, PEX6, LARS2, SLC19A2, SOX10, DNMT1, NLRP3, PNPT1, POLR1C, CLPP, VPS13A, GFAP, TREX1, KDM5C, ARHGEF9, RNASEH2B, RNASEH2C, RNASEH2A, KCNJ10, SAMHD1, PNKP, TSEN54, RELN, QARS, COL4A1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, STX1B, SYNJ1, SCN2A, SCN1B, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A3, ATP1A2, COL6A3, CHKB, DPM2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, ANO10, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SYNE1, BICD2, MTM1, UBQLN2, TARDBP, CHMP2B, SETX, RYR1, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, WASHC5, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, CASR, SNCA, SGCE, LRRK2, GCH1, THAP1, TOR1A, CACNA1A, PPP2R2B, NOTCH3, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, ATL1, DNM2, GDAP1, RAPSN, PLA2G6, PHGDH, CIZ1, SLC6A5, GLRA1, GLRB, NOP56, COL4A2, FAM126A, RETREG1, PSAT1, SNX14, APOPT1, CHCHD10, PRDM8, POLR3B, POLR3A, TRNT1, PMPCA, RUBCN, COQ4, EIF2B5, CLN5, TTPA, SUMF1, SLC17A5, PEX1, MCOLN1, MLC1, TH, SACS, PEX7, PPT1, PEX2, MTTP, DOK7, CLN8, CLN6, CHRNE, SDHD, MRE11, ATM, SYNGAP1, SLC2A1, PLP1, PCDH19, NPC2, NPC1, MEF2C, GJC2, FOXG1, EIF2B1, CDKL5, GBA, ARX, ASPA, ARSA, MGME1, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PNKD, WWOX, KIF21A, CLN3, TPP1, SLC25A38, ASL, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, ASS1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, GBE1, L2HGDH, SLC25A15, IVD, GALC, DLAT, SUCLG1, DBT, HIBCH, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, ACOX1, ALDH7A1, PHYH, HEXB, ALDH3A2, HEXA, ABHD5, ABCD1, AIFM1, ABCB7, TAZ, TIMM8A, PDHA1, OTC, PUS1, SQSTM1, ETHE1, TYMP, GAD1, SCO2, GLDC, PINK1, PCCA, PCCB, PARK7, SPG7, COQ2, NDUFA13, GRN, ALG2, PDP1, GFM1, SLC25A22, TK2, POLG2, DNAJC19, REEP1, MRPS16, TSFM, TUFM, PNPLA2, SLC25A3, DARS2, RARS2, MRPS22, COQ8A, SUCLA2, STXBP1, SDHB, COX4I2, SPR, SPTAN1, PLCB1, DYRK1A, SCN8A, WDR45, DOCK7, SLC13A5, SNAP25, SIK1, EEF1A2, SPATA5, HNRNPU, ATP13A2, GAMT, SLC25A12, TMEM126A, GFER, KARS, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, NFU1, SARS2, TMEM70, PDHB, BOLA3, DGUOK, ALDH18A1, AGK, COX14, NDUFA9, NDUFB3, NDUFA12, COQ6, PDSS1, PDSS2, COQ9, MTO1, MECP2, VCP, OPA3, PANK2, SDHC, MFN2, ALAS2, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, ELOVL4, PSAP, WFS1, TRMU, OPA1, CPT2, CPS1, HSD17B4, AMACR, SDHAF2, TUBB3, PSEN1, APP, PRKCG, MMACHC, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, ATP5F1E, UQCRB, ARG1, UQCRQ, PC, YARS2, ACADVL, AGL, ACADS, ACADM, ACAD9, ABHD12, AARS2, UBE3A, TTR, MTHFR Specificity 1 % Genes 100 %
Epileptic Encephalopathy. By MGZ Medical Genetics Center in Germany. PPT2, ARHGEF15, CLP1, GPHN, KCNH5, IBA57, HADH, DCAF17, CP, FTL, C19orf12, HNRNPDL, TUBB2A, CLCN4, NEU1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1 , (...) View the complete list with 69 more genes Panel GTR000521030 complete gene list PPT2, ARHGEF15, CLP1, GPHN, KCNH5, IBA57, HADH, DCAF17, CP, FTL, C19orf12, HNRNPDL, TUBB2A, CLCN4, NEU1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, WDR45, DOCK7, EEF1A2, HNRNPU, ATP13A2, QARS, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, STX1B, SYNJ1, SCN2A, SCN1B, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, EFHC1, DPM2, SYNE1, FA2H, SGCE, SCN1A, CSTB, PLA2G6, PHGDH, CLN5, PPT1, CLN6, SYNGAP1, SLC2A1, PCDH19, NPC2, NPC1, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, ALDH7A1, HEXB, HEXA, GLDC, SLC25A22, STXBP1, GAMT, MECP2, PANK2, POLG, AMACR, UBE3A Specificity 2 % Genes 100 %
Epileptic Encephalopathy – Basic Diagnostics. By MGZ Medical Genetics Center in Germany. GABRA1, PNPO, KCNC1, KCNQ2, KCNT1, HCN1, FOLR1, SCN2A, SCN1A, PHGDH, PPT1, SYNGAP1, SLC2A1, PCDH19, FOXG1, CDKL5, ARX, ALDH7A1, STXBP1, GAMT , (...) View the complete list with 2 more genes Panel GTR000521041 complete gene list GABRA1, PNPO, KCNC1, KCNQ2, KCNT1, HCN1, FOLR1, SCN2A, SCN1A, PHGDH, PPT1, SYNGAP1, SLC2A1, PCDH19, FOXG1, CDKL5, ARX, ALDH7A1, STXBP1, GAMT, MECP2, POLG Specificity 5 % Genes 100 %
Progressive Myoclonic Epilepsy. By MGZ Medical Genetics Center in Germany. NOL3, MYBPC1, NEU1, ASAH1, SCARB2, GABRA1, EPM2A, KCNC1, GABRD, FOLR1, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, EFHC1, CACNB4, CASR, SGCE, CSTB , (...) View the complete list with 11 more genes Panel GTR000521042 complete gene list NOL3, MYBPC1, NEU1, ASAH1, SCARB2, GABRA1, EPM2A, KCNC1, GABRD, FOLR1, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, EFHC1, CACNB4, CASR, SGCE, CSTB, CLN5, PPT1, CLN6, NPC2, NPC1, CLN3, TPP1, HEXB, HEXA, GLDC, POLG Specificity 4 % Genes 100 %
Ataxia. By MGZ Medical Genetics Center in Germany. KCNA4, SLC52A3, SLC6A19, SLC52A2, SLC2A10, CACNA1C, PRRT2, SLC1A3, CACNB4, KCNA1, SETX, CACNA1A, SACS, ATM, SLC2A1, TACO1, ASL, APTX, ASS1, SLC25A15 , (...) View the complete list with 14 more genes Panel GTR000521053 complete gene list KCNA4, SLC52A3, SLC6A19, SLC52A2, SLC2A10, CACNA1C, PRRT2, SLC1A3, CACNB4, KCNA1, SETX, CACNA1A, SACS, ATM, SLC2A1, TACO1, ASL, APTX, ASS1, SLC25A15, IVD, DBT, ABCB7, PDHA1, OTC, DARS2, COQ8A, TTC19, POLG, CPS1, C12orf65, BCKDHB, BCKDHA, ARG1 Specificity 3 % Genes 100 %
Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic. By MGZ Medical Genetics Center in Germany. TRIT1, RMND1, EARS2, SCO1, COX10, FBXL4, SLC19A3, MTFMT, SUCLG1, NDUFS2, SURF1, MPV17, PDHA1, ETHE1, SCO2, COQ2, TK2, COQ8A, SUCLA2, TMEM70 , (...) View the complete list with 13 more genes Panel GTR000521056 complete gene list TRIT1, RMND1, EARS2, SCO1, COX10, FBXL4, SLC19A3, MTFMT, SUCLG1, NDUFS2, SURF1, MPV17, PDHA1, ETHE1, SCO2, COQ2, TK2, COQ8A, SUCLA2, TMEM70, DGUOK, COQ6, PDSS1, PDSS2, COQ9, MTO1, RRM2B, NDUFS4, POLG, TRMU, TWNK, ACAD9, AARS2 Specificity 4 % Genes 100 %
Epilepsy and Mitochondrial Encephalopathy. By MGZ Medical Genetics Center in Germany. PTCD1, PPT2, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, SERAC1, KCNH5, IBA57, MICU1, EIF2AK3, HADH, EARS2, TPK1 , (...) View the complete list with 166 more genes Panel GTR000521058 complete gene list PTCD1, PPT2, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, SERAC1, KCNH5, IBA57, MICU1, EIF2AK3, HADH, EARS2, TPK1, SCO1, MARS2, DCAF17, CP, C19orf12, HNRNPDL, FBXL4, TUBB2A, CLCN4, NEU1, SLC19A2, PNPT1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, WDR45, DOCK7, EEF1A2, HNRNPU, QARS, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, SYNJ1, SCN2A, SCN1B, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, EFHC1, DPM2, SYNE1, FA2H, SLC33A1, SGCE, SCN1A, CSTB, PHGDH, CLN5, PPT1, CLN6, SDHD, SYNGAP1, SLC2A1, PCDH19, NPC2, NPC1, MEF2C, FOXG1, CDKL5, ARX, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, FARS2, TACO1, CLN3, TPP1, SLC25A20, FASTKD2, LRPPRC, ETFDH, ETFA, ETFB, SUCLG1, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, NDUFA2, MPV17, ALDH7A1, HEXB, HEXA, TAZ, TIMM8A, PDHA1, PUS1, ETHE1, TYMP, TRIT1, SCO2, GLDC, SPG7, PDP1, GFM1, SLC25A22, TK2, MRPS16, TSFM, TUFM, SLC25A3, RARS2, MRPS22, SUCLA2, STXBP1, SDHB, GAMT, SLC25A12, GFER, NUBPL, MTPAP, TTC19, NFU1, SARS2, TMEM70, PDHB, NDUFA9, NDUFB3, NDUFA12, PDSS1, PDSS2, MTO1, MECP2, PANK2, SDHC, NDUFAF2, RRM2B, FOXRED1, SLC25A4, SLC25A19, NDUFS4, POLG, WFS1, TRMU, OPA1, SDHAF2, UQCRB, UQCRQ, PC, YARS2, UBE3A Specificity 1 % Genes 100 %
Mitochondrial Diseases. By MGZ Medical Genetics Center in Germany. PTCD1, TRIT1, RMND1, VARS2, TARS2, FLAD1, LYRM7, NDUFB9, ATP5F1A, UQCRC2, SERAC1, IBA57, MICU1, EIF2AK3, EARS2, TPK1, SCO1, COX10, MARS2, ACTG2 , (...) View the complete list with 148 more genes Panel GTR000521060 complete gene list PTCD1, TRIT1, RMND1, VARS2, TARS2, FLAD1, LYRM7, NDUFB9, ATP5F1A, UQCRC2, SERAC1, IBA57, MICU1, EIF2AK3, EARS2, TPK1, SCO1, COX10, MARS2, ACTG2, FDX2, DNA2, FBXL4, LAMP2, LARS2, SLC19A2, PNPT1, CLPP, GFAP, SLC19A3, CHKB, ANO10, SLC33A1, KIF5A, GDAP1, SDHD, MGME1, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, SLC25A38, APTX, SLC25A20, SLC22A5, COX6B1, FASTKD2, LRPPRC, ETFDH, ETFA, ETFB, GBE1, DLAT, SUCLG1, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, ABHD5, AIFM1, ABCB7, TAZ, TIMM8A, PDHA1, PUS1, ETHE1, TYMP, SCO2, SPG7, COQ2, PDP1, GFM1, TK2, POLG2, DNAJC19, MRPS16, TSFM, TUFM, PNPLA2, SLC25A3, DARS2, RARS2, MRPS22, COQ8A, SUCLA2, SDHB, COX4I2, SLC25A12, TMEM126A, GFER, KARS, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, NFU1, SARS2, TMEM70, PDHB, BOLA3, DGUOK, AGK, COX14, NDUFA9, NDUFB3, NDUFA12, COQ6, PDSS1, PDSS2, COQ9, MTO1, OPA3, PANK2, SDHC, MFN2, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, NDUFS4, POLG, DLD, WFS1, TRMU, OPA1, CPT2, SDHAF2, C12orf65, TWNK, BCS1L, AUH, ATPAF2, ATP5F1E, UQCRB, UQCRQ, PC, YARS2, ACADVL, AGL, ACADS, ACADM, ACAD9, AARS2 Specificity 1 % Genes 100 %
Mitochondrial Myopathy. By MGZ Medical Genetics Center in Germany. FDX2, LAMP2, CHKB, SLC22A5, ETFDH, ETFA, ETFB, ISCU, PUS1, TK2, RRM2B, POLG, CPT2, TWNK, ACADVL Specificity 7 % Genes 100 %
Mitochondriopathy – Chronic Progressive External Ophthalmoplegia (CPEO). By MGZ Medical Genetics Center in Germany. MGME1, TYMP, SPG7, TK2, POLG2, RRM2B, SLC25A4, POLG, TWNK Specificity 12 % Genes 100 %
Muscle Disease with Ptosis / External Ophthalmoplegia. By MGZ Medical Genetics Center in Germany. ALG14, LRP4, PREPL, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, MTM1, RYR1, DNM2, RAPSN, DOK7, CHRNE, DPAGT1, KIF21A, CHAT, ALG2 , (...) View the complete list with 6 more genes Panel GTR000521074 complete gene list ALG14, LRP4, PREPL, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, MTM1, RYR1, DNM2, RAPSN, DOK7, CHRNE, DPAGT1, KIF21A, CHAT, ALG2, POLG2, RRM2B, SLC25A4, POLG, TUBB3, TWNK Specificity 4 % Genes 100 %
Mitochondrial Hepato(encephalo)pathy and Phenocopies. By MGZ Medical Genetics Center in Germany. SCO1, GBE1, SUCLG1, CPT1A, MPV17, ABHD5, GFM1, TSFM, PNPLA2, DGUOK, POLG, TRMU, TWNK, BCS1L, AGL Specificity 7 % Genes 100 %
Mitochondrial Encephalopathy. By MGZ Medical Genetics Center in Germany. PTCD1, TRIT1, RMND1, VARS2, TARS2, FLAD1, LYRM7, NDUFB9, ATP5F1A, UQCRC2, SERAC1, IBA57, MICU1, EIF2AK3, EARS2, TPK1, SCO1, COX10, MARS2, FBXL4 , (...) View the complete list with 111 more genes Panel GTR000521091 complete gene list PTCD1, TRIT1, RMND1, VARS2, TARS2, FLAD1, LYRM7, NDUFB9, ATP5F1A, UQCRC2, SERAC1, IBA57, MICU1, EIF2AK3, EARS2, TPK1, SCO1, COX10, MARS2, FBXL4, SLC19A2, PNPT1, GFAP, SLC19A3, SLC33A1, SDHD, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, FARS2, TACO1, SLC25A20, COX6B1, FASTKD2, LRPPRC, ETFDH, ETFA, ETFB, DLAT, SUCLG1, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, AIFM1, TAZ, TIMM8A, PDHA1, PUS1, ETHE1, TYMP, SCO2, SPG7, COQ2, PDP1, GFM1, TK2, DNAJC19, MRPS16, TSFM, TUFM, SLC25A3, DARS2, RARS2, MRPS22, COQ8A, SUCLA2, SDHB, COX4I2, SLC25A12, GFER, NUBPL, MTPAP, TTC19, NFU1, SARS2, TMEM70, PDHB, BOLA3, DGUOK, AGK, COX14, NDUFA9, NDUFB3, NDUFA12, COQ6, PDSS1, PDSS2, COQ9, MTO1, PANK2, SDHC, NDUFAF2, RRM2B, FOXRED1, SLC25A4, SLC25A19, NDUFS4, POLG, DLD, WFS1, TRMU, OPA1, SDHAF2, TWNK, BCS1L, AUH, ATPAF2, ATP5F1E, UQCRB, UQCRQ, PC, YARS2, ACAD9, AARS2 Specificity 1 % Genes 100 %
Muscle Weakness (Myopathy, Muscular Dystrophy). By MGZ Medical Genetics Center in Germany. SLC6A5, GLRA1, GLRB, SLC52A3, ALG14, LRP4, PREPL, MICU1, ORAI1, STIM1, HADH, PGK1, FDX2, MYBPC1, PIEZO2, GMPPB, STAC3, POMK, TOR1AIP1, MTMR14 , (...) View the complete list with 159 more genes Panel GTR000521098 complete gene list SLC6A5, GLRA1, GLRB, SLC52A3, ALG14, LRP4, PREPL, MICU1, ORAI1, STIM1, HADH, PGK1, FDX2, MYBPC1, PIEZO2, GMPPB, STAC3, POMK, TOR1AIP1, MTMR14, TNPO3, MYF6, LIMS2, COL12A1, AMPD1, AARS, HINT1, TNXB, FKBP14, LAS1L, LAMP2, MYH14, CUL4B, SNAP25, HNRNPU, GOSR2, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DNAJB6, TRAPPC11, EMD, SYNE2, TMEM43, SYNE1, IGHMBP2, DYNC1H1, BICD2, BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40, RYR1, CACNA1S, SELENON, FHL1, BAG3, HSPG2, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCN4A, DYSF, UBA1, CAV3, FKRP, CLCN1, LMNA, DNM2, EGR2, NEFL, MPZ, TRPV4, GDAP1, RAPSN, CAPN3, SGCG, POMGNT1, SGCB, SGCA, NEB, FKTN, DOK7, CHRNE, PHOX2B, DMD, DPAGT1, SDHA, KIF21A, SEPT9, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CHAT, CPT1A, ISCU, COX15, LPIN1, ABHD5, TAZ, PUS1, SCO2, ALG2, HADHB, GFM1, TK2, POLG2, PNPLA2, SLC25A3, PGM1, CAVIN1, TMEM70, AGK, MTO1, VCP, HADHA, CRYAB, MFN2, RRM2B, GARS, SLC25A4, POLG, TRIM32, GNE, CPT2, AMACR, TUBB3, GAA, TWNK, ACADVL, AGL, ACADS, ACADM, ACAD9, TTR Specificity 1 % Genes 100 %
Epilepsy. By MGZ Medical Genetics Center in Germany. PTCD1, PPT2, TRIT1, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, FAM126A, POLR3B, POLR3A, NOL3, SERAC1, KCNH5, IBA57 , (...) View the complete list with 192 more genes Panel GTR000521111 complete gene list PTCD1, PPT2, TRIT1, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, FAM126A, POLR3B, POLR3A, NOL3, SERAC1, KCNH5, IBA57, MICU1, EIF2AK3, HADH, EARS2, TPK1, SCO1, MARS2, DCAF17, CP, FTL, TUBB4A, C19orf12, MYBPC1, GMPPB, HNRNPDL, FBXL4, TUBB2A, CLCN4, NEU1, CHD8, SLC19A2, PNPT1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1, DYRK1A, SCN8A, WDR45, DOCK7, EEF1A2, HNRNPU, ATP13A2, QARS, PRRT2, DEPDC5, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, STX1B, SYNJ1, SCN2A, SCN1B, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A2, DPM2, CACNB4, SYNE1, FA2H, SLC33A1, CASR, SGCE, CACNA1A, SCN1A, CSTB, EIF2B3, PLA2G6, PHGDH, CLN5, PPT1, CLN6, SDHD, SYNGAP1, SLC2A1, PLP1, PCDH19, NPC2, NPC1, MEF2C, FOXG1, CDKL5, ARX, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, FARS2, TACO1, CLN3, TPP1, SLC25A20, FASTKD2, LRPPRC, ETFDH, ETFA, ETFB, SUCLG1, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, NDUFA2, MPV17, ALDH7A1, HEXB, HEXA, TAZ, TIMM8A, PDHA1, PUS1, ETHE1, TYMP, SCO2, GLDC, SPG7, PDP1, GFM1, SLC25A22, TK2, MRPS16, TSFM, TUFM, SLC25A3, RARS2, MRPS22, SUCLA2, STXBP1, SDHB, GAMT, SLC25A12, GFER, NUBPL, MTPAP, TTC19, NFU1, SARS2, TMEM70, PDHB, NDUFA9, NDUFB3, NDUFA12, PDSS1, PDSS2, MTO1, MECP2, PANK2, SDHC, NDUFAF2, RRM2B, FOXRED1, SLC25A4, SLC25A19, NDUFS4, POLG, WFS1, TRMU, OPA1, AMACR, SDHAF2, UQCRB, UQCRQ, PC, YARS2, UBE3A Specificity 1 % Genes 100 %
Teenager Stroke / Stroke-Like Episodes. By MGZ Medical Genetics Center in Germany. COL4A2, ADA2, ABCC6, SLC2A10, TGFBR2, TGFBR1, TGFB2, CACNA1C, HTRA1, TREX1, FLNA, COL4A1, NOTCH3, GLA, CBS, OTC, FBN1, POLG, AMACR, COL3A1 , (...) View the complete list with 1 more genes Panel GTR000521118 complete gene list COL4A2, ADA2, ABCC6, SLC2A10, TGFBR2, TGFBR1, TGFB2, CACNA1C, HTRA1, TREX1, FLNA, COL4A1, NOTCH3, GLA, CBS, OTC, FBN1, POLG, AMACR, COL3A1, TTR Specificity 5 % Genes 100 %
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR). By MGZ Medical Genetics Center in Germany. STIM1, HADH, GMPPB, TOR1AIP1, TNPO3, LIMS2, HINT1, LAMP2, HNRNPU, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, CHRNB1, CHRND, CHRNA1, GFPT1, COLQ, SGCD , (...) View the complete list with 70 more genes Panel GTR000521121 complete gene list STIM1, HADH, GMPPB, TOR1AIP1, TNPO3, LIMS2, HINT1, LAMP2, HNRNPU, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, CHRNB1, CHRND, CHRNA1, GFPT1, COLQ, SGCD, TCAP, POMT1, POMT2, PLEC, DNAJB6, TRAPPC11, EMD, TMEM43, MYH2, ACTA1, RYR1, SELENON, FHL1, BAG3, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCN4A, DYSF, CAV3, FKRP, CLCN1, LMNA, DNM2, TRPV4, RAPSN, CAPN3, SGCG, POMGNT1, SGCB, SGCA, NEB, FKTN, DOK7, CHRNE, DMD, SLC22A5, ETFDH, ETFA, ETFB, GBE1, PYGM, ISCU, LPIN1, ABHD5, PUS1, HADHB, TK2, PNPLA2, VCP, HADHA, CRYAB, RRM2B, POLG, TRIM32, GNE, CPT2, DYNC1H1, BICD2, MTM1, GAA, ACADVL, AGL, ACADM Specificity 2 % Genes 100 %
Mitochondrial DNA depletion syndrome 4A (Alpers type). By Centogene AG - the Rare Disease Company in Germany. POLG Specificity 100 % Genes 100 %
Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy. By Centogene AG - the Rare Disease Company in Germany. POLG Specificity 100 % Genes 100 %
Progressive external ophthalmoplegia with mitochondrial deletions autosomal recessive. By Centogene AG - the Rare Disease Company in Germany. POLG Specificity 100 % Genes 100 %
Comprehensive mitochondrial disorders panel. By Centogene AG - the Rare Disease Company in Germany. HSPA9, TIMM44, NDUFB9, MIP, BCL2, CRBN, GSR, HADH, SCO1, COX10, LARS2, PDX1, BRIP1, SDHD, SDHA, PDHX, TMLHE, CPOX, OGG1, PPOX , (...) View the complete list with 160 more genes Panel GTR000527972 complete gene list HSPA9, TIMM44, NDUFB9, MIP, BCL2, CRBN, GSR, HADH, SCO1, COX10, LARS2, PDX1, BRIP1, SDHD, SDHA, PDHX, TMLHE, CPOX, OGG1, PPOX, FECH, SLC25A20, CYP27A1, COX6B1, FXN, GCDH, ETFDH, ETFA, ETFB, HK1, SLC25A15, ALDH4A1, IVD, OXCT1, DLAT, SUCLG1, MLYCD, DBT, MUT, MMAA, MMAB, MCEE, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFA11, NDUFA1, CPT1A, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, OAT, AGXT, CYP27B1, AK2, SARDH, ALDH5A1, SUOX, SLC9A6, ACSL4, MAOA, ABCB7, TIMM8A, GK, PDHA1, OTC, RNASEL, SCO2, DMGDH, AMT, GLDC, GCSH, PINK1, HMGCS2, PCCA, PCCB, PARK7, GLUD1, SPG7, COQ2, UNG, PDP1, HADHB, GFM1, SLC25A22, TK2, ACADSB, POLG2, ALDH2, HTRA2, MRPS16, TSFM, TUFM, HAX1, SLC25A3, ACAD8, MRPS22, CYCS, SUCLA2, SDHB, SOD2, COX4I2, GATM, SLC25A12, ABAT, CAVIN1, IDH2, SCP2, CYP11A1, CYP24A1, NDUFA10, HSD3B2, HMGCL, NDUFAF1, PCK2, SARS2, ALDH6A1, PDHB, DIABLO, DGUOK, ALDH18A1, AGK, NDUFA9, NDUFB3, LIAS, DHODH, IDH3B, ACO2, MRPL3, CYP11B2, FH, OPA3, HADHA, PANK2, SDHC, MFN2, SLC25A13, ALAS2, KIF1B, CYP11B1, AFG3L2, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, PRODH, TRMU, ABCB6, OPA1, CPT2, CPS1, AMACR, MTRR, STAR, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, ATP5F1E, HLCS, UQCRB, PC, ACAT1, ACADVL, ACADS, ACADM, ACAD9, MCCC2, MCCC1 Specificity 1 % Genes 100 %
Mitochondrial dysfunctions panel. By Centogene AG - the Rare Disease Company in Germany. MT-TF, MT-TQ, MT-TH, MT-TP, MT-ND5, MT-TS2, MT-TS1, MT-ND6, MT-ND1, MT-TK, MT-TL1, SUCLG1, MPV17, PUS1, TYMP, TK2, SUCLA2, DGUOK, RRM2B, POLG , (...) View the complete list with 2 more genes Panel GTR000515360 complete gene list MT-TF, MT-TQ, MT-TH, MT-TP, MT-ND5, MT-TS2, MT-TS1, MT-ND6, MT-ND1, MT-TK, MT-TL1, SUCLG1, MPV17, PUS1, TYMP, TK2, SUCLA2, DGUOK, RRM2B, POLG, TWNK, PC Specificity 5 % Genes 100 %
AllNeuro panel. By Centogene AG - the Rare Disease Company in Germany. FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...) View the complete list with 1185 more genes Panel GTR000528053 complete gene list FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1, TNFSF4, RABGGTA, CDK11A, CNTNAP4, CR1, CD207, ACKR1, JRK, CD59, FZD9, DNAH9, VDAC1, NRG1, ELK1, NXF5, FLRT1, ADK, KCNK9, HERC2, WAC, ERBB4, NDUFA4, RBFOX3, STRADA, ARSI, USP8, WDR48, ZFR, ATP2B4, NOG, PRRX1, NECTIN1, UPB1, KANK1, ALAD, CACNA1B, YWHAE, FBXO38, TRPM7, EXOSC8, CHRM3, FTO, ZBTB16, ERCC1, SNCAIP, GIGYF2, TMCO1, MSX1, TUBA4A, WNT3, IRX5, AIMP1, EXOC8, PLEKHG4, HPSE2, PDE8B, LYZ, CIZ1, HDAC4, NOS3, TRPM6, DRD3, SLC6A5, IGF1, GLRA1, CST3, TFAP2B, GLRB, UMPS, NOP56, IFRD1, TRPS1, POGZ, PEX11B, GYG1, COL4A2, FAM126A, HOXD10, ARHGEF10, NGF, RETREG1, GDNF, ASCL1, CERS1, ARHGAP31, IL1RN, EIF4G1, WNT10A, KCNE5, DSC3, AP1S1, SCN10A, CWF19L1, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, RUBCN, MAPK10, LMNB1, ITM2B, STUB1, NAT8L, ERCC5, ELOVL5, PIK3R5, NOL3, GRID2, COL18A1, ATCAY, CAMTA1, ATP2B3, ATP8A2, AAAS, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, HPCA, ANO3, DNAJC6, ORC1, ALX3, CD96, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, ANK3, CACNG2, EPB41L1, CRADD, NDST1, TAF2, TTI2, CEP63, KNL1, CEP135, ZNF335, MED17, LAMB1, MPDZ, CCDC88C, SNAP29, ASNS, PREPL, MAMLD1, ARSE, ICK, WNT7A, ROR2, DHH, ESCO2, GRIP1, DYNC2H1, ZNF423, RIN2, HEPACAM, WNT5A, CSPP1, PDE6D, PIGL, NTRK2, OCLN, NLRP12, TICAM1, TRAF3, UNC93B1, TCTN3, NOTCH2, PRKRA, RANBP2, COL7A1, DST, FADD, LPIN2, XK, NHEJ1, RBM8A, SLC4A1, AKT1, AKT3, PIK3R2, B3GLCT, ALX1, FREM1, VAX1, CD36, VIPAS39, MYO5A, FGA, A2M, GP1BA, VPS35, PTF1A, ABCA1, B9D2, APOA1, PCBD1, SLC6A3, DRD2, EARS2, FBXO7, SLC20A2, TPK1, SORL1, PRNP, TREM2, CSF1R, IL11RA, TMEM165, COG5, COG6, ALG11, COG4, SCO1, COX10, MARS2, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, VEGFA, MASP1, BDNF, DCAF17, COASY, CP, FTL, NOD2, CTC1, GNPAT, CCT5, ASXL1, EFTUD2, RNASET2, EP300, ALX4, CD320, ACE, LHX4, SLC9A9, CSF2RB, DOCK8, ACVRL1, SLC4A4, BLOC1S6, IFT140, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, KDM6A, MAGEL2, TP63, GLI3, RNF135, NFIX, ABCC6, ACTA2, SKI, TGFBR2, TGFBR1, TGFB2, HYAL1, NAGA, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, VANGL1, MTOR, NEDD4L, CLCN2, NSUN2, TWIST1, MSX2, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, CHRNG, NEU1, FOXP3, MVK, CLCNKA, KAT6B, PEX5, TBCE, TG, TSHB, TUBGCP6, ASXL3, SEPSECS, AMPD2, RNU4ATAC, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, ADNP, DIAPH3, TFAP2A, PEX6, MYH9, MYH14, GJB3, CHSY1, PRPS1, SOX10, EDNRB, DNMT1, NLRP3, ERCC2, EDN3, CACNA1D, ACTG1, ACTB, SHANK2, SHANK3, HTRA1, ATP2A2, LBR, TBX1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ASAH1, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, GABRD, FOLR1, SLC6A1, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, COL6A1, LARGE1, COL6A3, COL6A2, POMGNT2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, FGF10, PGK1, CTDP1, KIF11, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, MAG, REEP2, ERLIN1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, ERCC6, CHMP1A, PIEZO2, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, SLC5A7, HNRNPDL, MTMR14, TNPO3, MYF6, LIMS2, COL12A1, AMPD1, PRKAG2, NKX2-1, EMD, SYNE2, SYNE1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, CCDC78, ACTA1, TPM3, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, RYR1, SLC33A1, NIPA1, L1CAM, ATP2A1, KIF5A, SPAST, MATR3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, KCNJ1, CLCNKB, BSND, LAMB2, INF2, INS, CASR, KCNJ11, FGFR1, SNCA, SGCE, LRRK2, NF1, GCH1, THAP1, TOR1A, CACNA1A, ATXN3, SCN4A, DYSF, CNBP, UBA1, CAV3, FKRP, CLCN1, NOTCH3, AHI1, C9orf72, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, SMN2, EIF2B3, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, TMEM216, RAPSN, PLA2G6, EIF2B5, CLN5, CAPN3, ABCC8, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MLC1, TH, SACS, SGCB, SGCA, PEX7, PPT1, PROP1, PEX2, NEB, FKTN, DOK7, CLN8, CLN6, CHRNE, RAD50, GPC3, MET, PHOX2B, MRE11, ATM, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, HDAC8, FGFR2, WDR62, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, SZT2, NEXMIF, SLC13A5, TBL1XR1, SETD2, MAGI2, RBFOX1, KMT2D, PDCD10, CCM2, ATP13A2, MFSD8, DNAJC5, KRIT1, TUBB2B, SRPX2, STIL, ADGRG1, CACNA1S, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, SELENON, FHL1, BAG3, RTN2, WASHC5, BSCL2, SOS1, SMN1, SLC2A1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, EIF2B1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, GBA, ELP1, ARX, ASPA, ARSA, AR, FGFR3, TSHR, HPD, MOGS, DPAGT1, DOLK, ARSB, AHCY, AGA, ABCD4, SDHA, MTFMT, SLC6A8, TMLHE, TACO1, GSN, NEFH, SOD1, PNKD, SNCB, WWOX, KIF21A, HESX1, ALMS1, CLN3, TPP1, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, DBT, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, AGXT, PAH, QDPR, PTS, PGAM2, ACOX1, ALDH7A1, SLC35C1, PHYH, LPIN1, HEXB, ALDH3A2, ALDH5A1, GM2A, HEXA, ABHD5, LMBRD1, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, FRMD7, OTC, PUS1, ALG3, ETHE1, PTCH1, NBN, MPI, TYMP, ALG6, GAD1, SLC35A1, SCO2, CISD2, AMT, GLDC, GCSH, PINK1, HMGCS2, PARK7, B4GALT1, ALG12, SPG7, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, FLVCR1, GFM1, MPDU1, SLC25A22, TK2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, HTRA2, TSFM, PNPLA2, SLC25A3, TUSC3, DARS2, COG8, COG1, RARS2, GYS1, TUBA1A, RFT1, COQ8A, SUCLA2, STXBP1, SPR, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, SLC25A12, TMEM126A, TLR3, GFER, ABAT, SPTLC2, KARS, SCP2, NUBPL, NDUFA10, MTPAP, TTC19, CCDC28B, NDUFAF1, PCK2, NFU1, TMEM70, HPS3, HPS4, HPS5, HPS6, BLOC1S3, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, ALDH18A1, AGK, NDUFA9, NDUFB3, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, SMPD1, VCP, FH, OPA3, RAF1, HADHA, PANK2, CRYAB, MFN2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, PRPH2, SHH, TRIM32, TTC8, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NHS, HPRT1, NDP, ELOVL4, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, CC2D2A, GLB1, PSAP, WFS1, DTNBP1, KRT5, OPA1, CPT2, HSD17B4, AMACR, MTRR, INPP5E, GPR143, GBE1, PYGM, PFKM, HK1, ALDH4A1, GALC, SUCLG1, OPTN, RET, MTR, TUBB3, PSEN1, TGFB1, PAX6, AMN, APP, PRKCG, FBLN5, MMACHC, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, ATPAF2, ATP7B, ATP7A, ATP5F1E, TYROBP, UQCRB, ARG1, UQCRQ, PC, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, ACACA, ABHD12, AARS2, PTEN, VHL, UBE3A, TTR, MTHFR, HFE, HTT, FMR1, F5, F2 Specificity 1 % Genes 100 %
CentoICU platinum plus. By Centogene AG - the Rare Disease Company in Germany. OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN , (...) View the complete list with 494 more genes Panel GTR000530427 complete gene list OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN, IGF1R, MALT1, IL21R, PCK1, IGF1, HGD, UMPS, TRHR, SLC52A1, SERPINC1, PEPD, GP9, ACTN1, ASNS, FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4, PROS1, LRBA, PIK3CD, C15orf41, GSS, EPB42, ANK1, SPTA1, SPTB, PTPRC, LIG4, NHEJ1, RAC2, LAMTOR2, RBM8A, ELANE, SLC4A1, INSR, GNA11, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, AICDA, TNFRSF13B, MASTL, ITGA2B, ITGB3, GFI1B, STIM1, P2RY12, P2RX1, FGG, FGB, FGA, GP1BA, EIF2AK3, PTF1A, GLIS3, AKT2, APOC2, HADH, PSPH, PCBD1, DDC, MAT1A, SLC46A1, MYCN, RBBP8, IER3IP1, RAB18, EVC2, EVC, AKR1D1, BDNF, FANCD2, FANCA, ADAMTS13, F8, F9, GNAS, JAK3, TBX5, SALL4, CD320, LHX3, LHX4, TBX19, SPINK1, F11, RAB3GAP2, DNA2, PRKAG2, SFTPB, SFTPC, ABCA3, DOCK8, SFTPD, KDM6A, AKAP9, CALM1, MITF, GPSM2, CACNB2, ATR, PCNT, CDK5RAP2, CEP152, SPRED1, COMP, NAA10, RPS6KA3, FANCB, MAGT1, CDAN1, NEU1, UROS, PKLR, MVK, KLF1, GATA1, GATA3, SIX1, KCNQ1, KCNE1, PRPS1, SIX5, KCNQ4, PAX3, PNPT1, COL11A1, EDN3, CACNA1D, ATP6V1B1, SALL1, ZEB2, CASK, ATRX, TCF4, KCNJ10, SPTAN1, KMT2D, STIL, RAB3GAP1, CENPJ, BCKDK, EPM2A, PNPO, KCNQ3, KCNQ2, SCN2A, ST3GAL5, KCNH2, NHLRC1, ASPM, MCPH1, LAMA2, POMT1, POMT2, PLEC, PKD2, BSND, POU1F1, HNF4A, PDX1, INS, CASR, KCNJ11, NR0B1, GCH1, SCN1A, CSTB, WNK1, EGR2, PMP22, TGM1, PKHD1, PHGDH, LAMC2, BTK, ABCC8, WAS, SUMF1, LAMA3, UGT1A1, SLC26A2, SLC7A7, SERPINA1, DCLRE1C, PROP1, CTNS, G6PD, FKTN, LAMB3, SBDS, GPC3, PHOX2B, NSD1, NIPBL, TSC1, TSC2, MAP2K2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RPS19, RMRP, NRAS, NPC2, NPC1, MEF2C, MAP2K1, LIPA, KRAS, HRAS, GLA, GJB2, FOXG1, DHCR7, CHD7, CDKL5, BRAF, F13A1, CD79B, IGLL1, CD79A, BLNK, LRRC8A, SLCO1B3, SLCO1B1, PSAT1, LIPN, CYP4F22, PNPLA1, ALOXE3, STS, CERS3, NIPAL4, ALOX12B, SERPING1, F10, PET100, COA5, SERAC1, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, SLC25A1, CACNA1C, FUCA1, TJP2, FANCC, CFTR, ASPA, ARSA, TSHR, PNP, IL2RG, HPD, GNMT, DOLK, SUGCT, ARSB, AHCY, AGA, ADA, ABCD4, PDHX, PAX2, HESX1, ANKRD26, CYP17A1, OGDH, ALMS1, SOX2, ASL, PMM2, SLC25A20, SLC22A5, ASS1, SLC3A1, LRPPRC, GLYCTK, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, CBS, NAGS, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, DBT, HIBCH, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFV2, NDUFA11, SDHAF1, MOCS1, MOCS2, GALNS, GUSB, CPT1A, NDUFAF6, NDUFS7, COX15, NDUFA2, CTSA, OAT, AGXT, ACOX1, ALDH7A1, HEXB, ALDH3A2, ALDH5A1, SUOX, HEXA, TCN2, LMBRD1, MMADHC, SLC9A6, AIFM1, TAZ, GK, PDHA1, OTC, D2HGDH, ETHE1, AMT, GLDC, HMGCS2, PCCA, COQ2, UCP2, UNG, PDP1, HADHB, ACADSB, CTSD, DNAJC19, CRTAP, P3H1, ACAD8, SUCLA2, STXBP1, SPR, GATM, GAMT, ABAT, TAT, HSD3B2, HMGCL, NDUFAF1, FAH, NFU1, ALDH6A1, PDHB, ACSF3, LIAS, PDSS1, PDSS2, COQ9, FBN1, CYP11B2, MECP2, SMPD1, FH, OPA3, RAF1, HADHA, SLC25A13, ALAS2, NDUFAF2, FOXRED1, CYP11B1, GCK, SLC25A19, NDUFS4, POLG, DLD, AASS, CEP290, ADGRV1, MKKS, HPRT1, JAG1, HSD17B10, GNE, PRODH, GLB1, GNPTAB, PSAP, COMT, PTPN11, POMC, PLOD1, PAH, QDPR, PTS, WFS1, TRMU, KRT5, CPT2, CPS1, HSD17B4, MTRR, SLC16A1, ABCA12, EYA4, SLC37A4, RET, MTR, HNF1B, PSEN1, RB1, WT1, STAR, COL1A2, COL1A1, EYA1, MMACHC, HBB, HNF1A, ADSL, GAA, C12orf65, BCS1L, BCKDHB, BCKDHA, AUH, ATP8B1, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, AARS2, MCCC2, MCCC1, UBE3A, MTHFR, F5, F2, BRCA2 Specificity 1 % Genes 100 %
CentoICU platinum. By Centogene AG - the Rare Disease Company in Germany. FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4 , (...) View the complete list with 494 more genes Panel GTR000530428 complete gene list FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4, PROS1, LRBA, PIK3CD, C15orf41, GSS, EPB42, ANK1, SPTA1, SPTB, PTPRC, LIG4, NHEJ1, RAC2, LAMTOR2, RBM8A, ELANE, SLC4A1, INSR, GNA11, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, AICDA, TNFRSF13B, MASTL, ITGA2B, ITGB3, GFI1B, STIM1, P2RY12, P2RX1, FGG, FGB, FGA, GP1BA, EIF2AK3, PTF1A, GLIS3, AKT2, APOC2, HADH, PSPH, PCBD1, DDC, MAT1A, SLC46A1, MYCN, RBBP8, IER3IP1, RAB18, EVC2, EVC, AKR1D1, BDNF, FANCD2, FANCA, ADAMTS13, F8, F9, GNAS, JAK3, TBX5, SALL4, CD320, LHX3, LHX4, TBX19, SPINK1, F11, RAB3GAP2, DNA2, PRKAG2, SFTPB, SFTPC, ABCA3, DOCK8, SFTPD, KDM6A, AKAP9, CALM1, MITF, GPSM2, CACNB2, ATR, PCNT, CDK5RAP2, CEP152, SPRED1, COMP, NAA10, RPS6KA3, FANCB, MAGT1, CDAN1, NEU1, UROS, PKLR, MVK, KLF1, GATA1, CACNA1C, FUCA1, TJP2, GATA3, SIX1, KCNQ1, KCNE1, PRPS1, SIX5, KCNQ4, PAX3, PNPT1, COL11A1, EDN3, CACNA1D, ATP6V1B1, SALL1, ZEB2, CASK, ATRX, TCF4, KCNJ10, SPTAN1, KMT2D, STIL, RAB3GAP1, CENPJ, BCKDK, EPM2A, EGR2, PMP22, TGM1, PKHD1, PHGDH, LAMC2, BTK, ABCC8, WAS, SUMF1, LAMA3, UGT1A1, SLC26A2, SLC7A7, SERPINA1, DCLRE1C, PROP1, CTNS, G6PD, FKTN, LAMB3, SBDS, GPC3, PHOX2B, NSD1, NIPBL, TSC1, TSC2, MAP2K2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RPS19, RMRP, PTPN11, POMC, PLOD1, NRAS, NPC2, NPC1, MEF2C, MAP2K1, LIPA, KRAS, HRAS, GLA, GJB2, FOXG1, DHCR7, CHD7, CDKL5, BRAF, FANCC, CFTR, ASPA, ARSA, TSHR, PNP, IL2RG, HPD, GNMT, DOLK, SUGCT, ARSB, AHCY, AGA, ADA, ABCD4, PDHX, PAX2, OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN, IGF1R, MALT1, IL21R, PCK1, IGF1, HGD, UMPS, TRHR, SLC52A1, SERPINC1, PEPD, F13A1, CD79B, IGLL1, CD79A, BLNK, LRRC8A, SLCO1B3, SLCO1B1, PSAT1, LIPN, CYP4F22, PNPLA1, ALOXE3, STS, CERS3, NIPAL4, ALOX12B, SERPING1, F10, PET100, COA5, SERAC1, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, SLC25A1, GP9, ACTN1, ASNS, HESX1, ANKRD26, CYP17A1, OGDH, ALMS1, SOX2, ASL, PMM2, SLC25A20, SLC22A5, ASS1, SLC3A1, LRPPRC, GLYCTK, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, CBS, NAGS, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, DBT, HIBCH, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFV2, NDUFA11, SDHAF1, MOCS1, MOCS2, GALNS, GUSB, CPT1A, NDUFAF6, NDUFS7, COX15, NDUFA2, CTSA, OAT, AGXT, PAH, QDPR, PTS, ACOX1, ALDH7A1, HEXB, ALDH3A2, ALDH5A1, SUOX, HEXA, TCN2, LMBRD1, MMADHC, SLC9A6, AIFM1, TAZ, GK, PDHA1, OTC, D2HGDH, ETHE1, AMT, GLDC, HMGCS2, PCCA, COQ2, UCP2, UNG, PDP1, HADHB, ACADSB, CTSD, DNAJC19, CRTAP, P3H1, ACAD8, SUCLA2, STXBP1, SPR, GATM, GAMT, ABAT, TAT, HSD3B2, HMGCL, NDUFAF1, FAH, NFU1, ALDH6A1, PDHB, ACSF3, LIAS, PDSS1, PDSS2, COQ9, FBN1, CYP11B2, MECP2, SMPD1, FH, OPA3, RAF1, HADHA, SLC25A13, ALAS2, NDUFAF2, FOXRED1, CYP11B1, GCK, SLC25A19, NDUFS4, POLG, DLD, AASS, CEP290, ADGRV1, MKKS, HPRT1, JAG1, HSD17B10, GNE, PRODH, GLB1, GNPTAB, PSAP, COMT, WFS1, TRMU, KRT5, CPT2, CPS1, HSD17B4, MTRR, SLC16A1, ABCA12, EYA4, SLC37A4, RET, MTR, HNF1B, PSEN1, PNPO, KCNQ3, KCNQ2, SCN2A, ST3GAL5, KCNH2, NHLRC1, ASPM, MCPH1, LAMA2, POMT1, POMT2, PLEC, PKD2, BSND, POU1F1, HNF4A, PDX1, INS, CASR, KCNJ11, NR0B1, GCH1, SCN1A, CSTB, WNK1, RB1, WT1, STAR, COL1A2, COL1A1, EYA1, MMACHC, HBB, HNF1A, ADSL, GAA, C12orf65, BCS1L, BCKDHB, BCKDHA, AUH, ATP8B1, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, AARS2, MCCC2, MCCC1, UBE3A, MTHFR, F5, F2, BRCA2 Specificity 1 % Genes 100 %
Progressive external ophthalmoplegia with mitochondrial deletions, autosomal recessive. By Centogene AG - the Rare Disease Company in Germany. POLG Specificity 100 % Genes 100 %
Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy. By Centogene AG - the Rare Disease Company in Germany. POLG Specificity 100 % Genes 100 %
Progressive external ophthalmoplegia with mitochondrial deletions type 1. By Centogene AG - the Rare Disease Company in Germany. POLG Specificity 100 % Genes 100 %
Sensory ataxic neuropathy dysarthria, and ophthalmoparesis. By Centogene AG - the Rare Disease Company in Germany. POLG Specificity 100 % Genes 100 %
Comprehensive mtDNA Depletion Syndromes NGS Panel. By MNG Laboratories (Medical Neurogenetics, LLC.) in United States. CHCHD10, FBXL4, MGME1, SUCLG1, MPV17, TYMP, TK2, POLG2, SUCLA2, DGUOK, RRM2B, AFG3L2, SLC25A4, POLG, OPA1, TWNK Specificity 7 % Genes 100 %
Migraine Panel. By CeGaT GmbH in Germany. KCNK18, PRRT2, ATP1A3, ATP1A2, SLC1A3, CACNA1A, NOTCH3, SCN1A, SLC2A1, POLG Specificity 10 % Genes 100 %
Parkinson all Panel. By CeGaT GmbH in Germany. TENM4, VPS13C, ASNA1, RAB29, PRKAR1B, CHCHD2, DNAJC13, PODXL, PDE8B, EIF4G1, SLC30A10, DNAJC6, PRKRA, VPS35, SLC6A3, FBXO7, PDE10A, FTL, C19orf12, TAF1 , (...) View the complete list with 28 more genes Panel GTR000522458 complete gene list TENM4, VPS13C, ASNA1, RAB29, PRKAR1B, CHCHD2, DNAJC13, PODXL, PDE8B, EIF4G1, SLC30A10, DNAJC6, PRKRA, VPS35, SLC6A3, FBXO7, PDE10A, FTL, C19orf12, TAF1, RAB39B, ATP6AP2, ATP13A2, SYNJ1, ATP1A3, DCTN1, SNCA, LRRK2, GCH1, ATXN3, ATXN2, MAPT, SPG11, ZFYVE26, PLA2G6, TH, GBA, PRKN, PINK1, PARK7, GRN, HTRA2, SPR, PANK2, POLG, COMT, PTEN, FMR1 Specificity 3 % Genes 100 %
Congenital and Distal Myopathies Panel. By CeGaT GmbH in Germany. HNRNPA1, HNRNPA2B1, MSTN, VMA21, CHCHD10, HACD1, MICU1, ORAI1, STIM1, CASQ1, LMOD3, SPEG, STAC3, MTMR14, MYF6, KLHL41, COL12A1, DNA2, ACVR1, FKBP14 , (...) View the complete list with 53 more genes Panel GTR000522465 complete gene list HNRNPA1, HNRNPA2B1, MSTN, VMA21, CHCHD10, HACD1, MICU1, ORAI1, STIM1, CASQ1, LMOD3, SPEG, STAC3, MTMR14, MYF6, KLHL41, COL12A1, DNA2, ACVR1, FKBP14, LAMP2, MYH14, COL6A1, COL6A3, COL6A2, SIL1, PLEC, BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40, RYR1, SELENON, FHL1, BAG3, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, KLHL9, TTN, DYSF, CAV3, PABPN1, DNM2, NEB, ISCU, PUS1, TK2, POLG2, SUCLA2, VCP, CRYAB, RRM2B, POLG, TRIM32, GNE, OPA1, TWNK, YARS2 Specificity 2 % Genes 100 %
Nuclear encoded Mitochondriopathies Panel. By CeGaT GmbH in Germany. CYC1, NDUFB9, MPC1, ATP5F1A, YWHAE, UQCRC2, DECR1, CHCHD10, PET100, COA5, SERAC1, COX20, SLC25A1, IBA57, HOGA1, COQ8B, IDH1, HADH, EARS2, TPK1 , (...) View the complete list with 263 more genes Panel GTR000522476 complete gene list CYC1, NDUFB9, MPC1, ATP5F1A, YWHAE, UQCRC2, DECR1, CHCHD10, PET100, COA5, SERAC1, COX20, SLC25A1, IBA57, HOGA1, COQ8B, IDH1, HADH, EARS2, TPK1, MT-TL2, SCO1, COX10, MARS2, COASY, MT-ATP8, MT-ND3, MT-CO3, MT-RNR2, MT-CO1, MT-ND5, MT-CO2, MT-ND2, MT-CYB, FDX2, DDHD1, ERCC6, DNA2, PDK3, MT-RNR1, LARS2, MT-TS2, MT-TS1, SLC19A2, PNPT1, CLPP, SAMHD1, SLC19A3, SPART, SLC33A1, KIF5A, SPAST, MT-ND4, MT-ND6, MT-ND1, MT-ATP6, MT-TL1, ATL1, GDAP1, SACS, SDHD, RMRP, MGME1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PNKD, WWOX, PPOX, OGDH, GLRX5, SLC25A38, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, HK1, L2HGDH, NAGS, SLC25A15, ALDH4A1, IVD, OXCT1, DLAT, SUCLG1, MLYCD, DBT, HIBCH, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, OAT, AK2, MMADHC, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, OTC, PUS1, D2HGDH, ETHE1, TYMP, SCO2, CISD2, DMGDH, AMT, GLDC, GCSH, PINK1, HMGCS2, PCCA, PCCB, PARK7, GLUD1, SPG7, COQ2, UNG, PDP1, HADHB, GFM1, SLC25A22, TK2, ACADSB, POLG2, DNAJC19, REEP1, HTRA2, MRPS16, TSFM, TUFM, PNPLA2, SLC25A3, DARS2, ACAD8, RARS2, MRPS22, CYCS, COQ8A, SUCLA2, SDHB, COX4I2, GATM, GAMT, SLC25A12, TMEM126A, GFER, KARS, IDH2, NUBPL, NDUFA10, XPNPEP3, MTPAP, TTC19, HMGCL, NDUFAF1, PCK2, NFU1, SARS2, TMEM70, ALDH6A1, PDHB, DIABLO, BOLA3, DGUOK, DNM1L, AGK, COX14, NDUFA9, NDUFB3, LIAS, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, MTO1, FH, OPA3, HADHA, PANK2, SDHC, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, HSD17B10, WFS1, TRMU, OPA1, CPT2, CPS1, AMACR, SDHAF2, ELAC2, STAR, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, BTD, ATP5F1E, HLCS, UQCRB, CEP89, CRAT, BCAT2, SFXN4, RMND1, LYRM4, MRPL44, COX7B, UQCRQ, PC, FBP1, YARS2, ACAT1, ACADVL, ACADS, ACADM, ACAD9, AARS2, MCCC2, MCCC1 Specificity 1 % Genes 100 %
Ataxia and differential diagnoses Panel. By CeGaT GmbH in Germany. RPIA, POLH, NOP56, XPC, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, XPA, TRNT1, PMPCA, RUBCN, SLC9A1, STUB1 , (...) View the complete list with 184 more genes Panel GTR000522481 complete gene list RPIA, POLH, NOP56, XPC, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, XPA, TRNT1, PMPCA, RUBCN, SLC9A1, STUB1, ERCC5, SCYL1, RNF216, RNASEH1, ELOVL5, PTRH2, DMXL2, PCNA, PIK3R5, GRID2, LAMA1, SLC52A2, ATCAY, BEAN1, CACNA1G, ATP2B3, ATP8A2, RARS, UBA5, COX20, CA8, CCDC88C, DNAJC3, MARS2, VLDLR, ARL13B, RPGRIP1L, ERCC4, CP, WNT1, GBA2, UCHL1, KIF1C, ERCC6, GMPPB, NKX2-1, NALCN, CLCN2, NEU1, PEX10, PRPS1, DNMT1, POLR1C, ERCC3, ERCC2, GFAP, KCNJ10, PNKP, SNAP25, KCNA2, DNAJC5, CTSF, ADGRG1, TSEN54, RELN, PRRT2, LMNB2, EPM2A, KCNC1, HCN1, FOLR1, SLC6A1, SCN2A, SLC19A3, PRICKLE1, NHLRC1, GOSR2, ATP1A3, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, TRAPPC11, SYNE1, VRK1, SETX, PNPLA6, BSCL2, ATN1, TBP, CACNA1A, ATXN7, ATXN10, ATXN3, ATXN2, PPP2R2B, AHI1, CSTB, EIF2B4, EIF2B2, EIF2B3, GJB1, TMEM216, PLA2G6, EIF2B5, CLN5, TTPA, SLC17A5, SACS, PEX7, PEX2, MTTP, CLN6, MRE11, ATM, ATXN1, NPC2, NPC1, EIF2B1, GBA, ARSA, PDHX, WWOX, TPP1, APTX, PMM2, CYP27A1, FASTKD2, FXN, GCDH, L2HGDH, GALC, DLAT, NAGLU, NDUFS7, PHYH, HEXB, ALDH5A1, HEXA, ABCB7, ALG6, SPG7, COQ2, PDP1, FLVCR1, DNAJC19, TSFM, DARS2, COQ8A, SPR, NUBPL, MTPAP, TTC19, ACO2, PDSS1, PDSS2, COQ9, OPA3, AFG3L2, POLG, CEP290, NPHP1, TMEM67, ELOVL4, CC2D2A, GLB1, WFS1, OPA1, AMACR, INPP5E, PAX6, PRKCG, TWNK, AUH, ATP7B, BTD, UQCRQ, ABHD12, AARS2, FMR1 Specificity 1 % Genes 100 %
Atypical Parkinson syndrome Panel. By CeGaT GmbH in Germany. PDE8B, SLC30A10, DNAJC6, FBXO7, FTL, RAB39B, ATP6AP2, ATP13A2, SYNJ1, ATP1A3, DCTN1, GCH1, ATXN3, ATXN2, C9orf72, MAPT, SPG11, ZFYVE26, PLA2G6, TH , (...) View the complete list with 4 more genes Panel GTR000522483 complete gene list PDE8B, SLC30A10, DNAJC6, FBXO7, FTL, RAB39B, ATP6AP2, ATP13A2, SYNJ1, ATP1A3, DCTN1, GCH1, ATXN3, ATXN2, C9orf72, MAPT, SPG11, ZFYVE26, PLA2G6, TH, GRN, POLG, COMT, FMR1 Specificity 5 % Genes 100 %
Basal ganglia calcification Panel. By CeGaT GmbH in Germany. XPR1, PDGFB, PDGFRB, TBCE, ERCC8, SLC20A2, TREM2, CTC1, ADAR, IFIH1, ERCC6, GATA3, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, COL4A1, FOLR1 , (...) View the complete list with 7 more genes Panel GTR000522491 complete gene list XPR1, PDGFB, PDGFRB, TBCE, ERCC8, SLC20A2, TREM2, CTC1, ADAR, IFIH1, ERCC6, GATA3, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, COL4A1, FOLR1, BRAF, AIRE, GALC, CA2, PANK2, POLG, TYROBP Specificity 4 % Genes 100 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel. By CeGaT GmbH in Germany. TBCK, NADK2, PLEKHG2, VPS11, ISCA2, DARS, AIMP1, PEX11B, COL4A2, FAM126A, PSAT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, SLC25A1, IBA57, HEPACAM , (...) View the complete list with 155 more genes Panel GTR000522492 complete gene list TBCK, NADK2, PLEKHG2, VPS11, ISCA2, DARS, AIMP1, PEX11B, COL4A2, FAM126A, PSAT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, SLC25A1, IBA57, HEPACAM, OCLN, STXBP2, STX11, UNC13D, ERCC8, EARS2, TREM2, CSF1R, COX10, CTC1, RNASET2, AP4E1, ADAR, DDHD2, TUBB4A, IFIH1, ERCC6, GMPPB, GAN, AARS, CLCN2, SLC16A2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, SOX10, POLR1C, ERCC3, ERCC2, HTRA1, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, COL4A1, KCNT1, FOLR1, LARGE1, LAMA2, POMT1, POMT2, SPG21, SPART, FA2H, CYP7B1, FKRP, NOTCH3, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, PLA2G6, PHGDH, EIF2B5, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PEX2, FKTN, PRF1, PLP1, NPC2, NPC1, IDS, GLA, GJC2, EIF2B1, ASPA, ARSA, AGA, SDHA, MTFMT, FARS2, TACO1, CYP27A1, COX6B1, LRPPRC, GCDH, ETFDH, ETFA, ETFB, GBE1, L2HGDH, GALC, NDUFAF5, NDUFS2, NDUFV1, NDUFS1, NDUFA1, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, APOPT1, PET100, NDUFA2, MPV17, ACOX1, PHYH, ALDH3A2, HEXA, ABCD1, D2HGDH, TYMP, SCO2, GFM1, TUFM, DARS2, SUCLA2, SLC25A12, SCP2, NUBPL, TTC19, HMGCL, NDUFAF1, TMEM70, NDUFA9, NDUFA12, NDUFAF2, FOXRED1, HSPD1, NDUFS4, POLG, OCRL, GLB1, PSAP, HSD17B4, MMACHC, C12orf65, BCS1L, AUH, ATP7B, ATP7A, TYROBP, PC, AARS2 Specificity 1 % Genes 100 %
Charcot-Marie-Tooth and Sensory Neuropathies Panel. By CeGaT GmbH in Germany. DCAF8, ATL3, SCN11A, HOXD10, ARHGEF10, NGF, RETREG1, SCN10A, DST, CCT5, CTDP1, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DHTKD1, GNB4, SBF1 , (...) View the complete list with 64 more genes Panel GTR000522516 complete gene list DCAF8, ATL3, SCN11A, HOXD10, ARHGEF10, NGF, RETREG1, SCN10A, DST, CCT5, CTDP1, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, MYH14, PRPS1, SOX10, DNMT1, SCN9A, IGHMBP2, DYNC1H1, KIF1A, BSCL2, KIF5A, INF2, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, ELP1, SEPT9, HK1, SURF1, AIFM1, TYMP, HADHB, REEP1, SPTLC2, KARS, HARS, HADHA, MFN2, KIF1B, GARS, POLG, OPA1, FBLN5, C12orf65, TWNK, ABHD12, TTR Specificity 2 % Genes 100 %
Single gene testing POLG. By CeGaT GmbH in Germany. POLG Specificity 100 % Genes 100 %
POLG-Related Disorders. By Centre for Inherited Metabolic Diseases Karolinska University Hospital in Sweden. POLG Specificity 100 % Genes 100 %
Mitochondrial Diseases (mtDNA and 133 nuclear genes). By Asper Biogene Asper Biogene LLC in Estonia. NDUFB9, COA5, HADH, SCO1, COX10, SLC19A3, SETX, PDX1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, TACO1, SOD1, APTX, SLC25A20, COX6B1, FASTKD2, LRPPRC , (...) View the complete list with 112 more genes Panel GTR000520058 complete gene list NDUFB9, COA5, HADH, SCO1, COX10, SLC19A3, SETX, PDX1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, TACO1, SOD1, APTX, SLC25A20, COX6B1, FASTKD2, LRPPRC, ETFDH, ETFA, ETFB, DLAT, SUCLG1, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, CPT1A, ISCU, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, AIFM1, ABCB7, TAZ, TIMM8A, PDHA1, PUS1, ETHE1, TYMP, SCO2, CISD2, SPG7, COQ2, PDP1, GFM1, TK2, POLG2, DNAJC19, REEP1, MRPS16, TSFM, TUFM, DARS2, RARS2, MRPS22, COQ8A, SUCLA2, GATM, GAMT, TMEM126A, GFER, G6PC, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, NFU1, SARS2, TMEM70, PDHB, BOLA3, DGUOK, DNM1L, NDUFB3, NDUFA12, COQ6, PDSS1, PDSS2, COQ9, FH, OPA3, HADHA, MFN2, ALAS2, NDUFAF2, RRM2B, FOXRED1, AFG3L2, SLC25A4, HSPD1, NDUFS4, POLG, DLD, WFS1, TRMU, OPA1, CPT2, SLC37A4, C12orf65, TWNK, BCS1L, AUH, ATPAF2, ATP5F1E, HLCS, UQCRB, UQCRQ, GYS2, PC, FBP1, YARS2, ACADVL, ACADS, ACADM, ACADL, ACAD9, AARS2 Specificity 1 % Genes 100 %
Charcot-Marie-Tooth Disease. By Asper Biogene Asper Biogene LLC in Estonia. ARHGEF10, NGF, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, TRIM2, PLEKHG5, COX6A1, MARS, MORC2, PRPS1, SCN9A , (...) View the complete list with 47 more genes Panel GTR000520409 complete gene list ARHGEF10, NGF, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, TRIM2, PLEKHG5, COX6A1, MARS, MORC2, PRPS1, SCN9A, IGHMBP2, HSPB3, DYNC1H1, DCTN1, SETX, KIF1A, BSCL2, KIF5A, INF2, SPTLC1, WNK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, ARSA, HK1, NAGLU, SURF1, AIFM1, TYMP, REEP1, SPTLC2, KARS, HARS, VCP, MFN2, KIF1B, GARS, POLG, C12orf65 Specificity 2 % Genes 100 %
Epilepsy. By Asper Biogene Asper Biogene LLC in Estonia. SNIP1, ITPA, GPHN, PIGT, SLC12A5, CERS1, FGF12, KIF5C, ADAR, SMARCA2, AARS, MTOR, NECAP1, ZDHHC9, HUWE1, CACNA1D, CASK, ATP6AP2, SYN1, ARHGEF9 , (...) View the complete list with 104 more genes Panel GTR000551668 complete gene list SNIP1, ITPA, GPHN, PIGT, SLC12A5, CERS1, FGF12, KIF5C, ADAR, SMARCA2, AARS, MTOR, NECAP1, ZDHHC9, HUWE1, CACNA1D, CASK, ATP6AP2, SYN1, ARHGEF9, SYP, IQSEC2, ATRX, SERPINI1, TCF4, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, DOCK7, SLC13A5, KCNB1, PURA, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, SRPX2, FLNA, RELN, DCX, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, KCNA1, DYNC1H1, KIF1A, CACNA1A, SCN1A, CSTB, SLC35A3, TSC1, SYNGAP1, TSC2, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, WWOX, MOCS1, MOCS2, ALDH7A1, SLC9A6, ALG3, SLC25A22, STXBP1, GAMT, MECP2, POLG, TUBB3, ADSL, GATM, MCCC1, UBE3A Specificity 1 % Genes 100 %
Metabolic Myopathy and Rhabdomyolysis. By Asper Biogene Asper Biogene LLC in Estonia. GYG1, PGK1, AMPD1, PRKAG2, RYR1, CAV3, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, ISCU, PGAM2, LPIN1, ABHD5, PHKA1, TAZ , (...) View the complete list with 23 more genes Panel GTR000558540 complete gene list GYG1, PGK1, AMPD1, PRKAG2, RYR1, CAV3, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, ISCU, PGAM2, LPIN1, ABHD5, PHKA1, TAZ, TYMP, HADHB, TK2, POLG2, PNPLA2, GYS1, SUCLA2, ENO3, LDHA, PGM1, OPA3, HADHA, RRM2B, POLG, OPA1, CPT2, GAA, TWNK, ALDOA, ACADVL, AGL, ACADM, ACAD9 Specificity 3 % Genes 100 %
POLG-Related Disorders. By Clinical Genomics Maastricht University Medical Centre in Netherlands. POLG Specificity 100 % Genes 100 %
Alpers-Huttenlocher syndrome. By Praxis fuer Humangenetik Wien in Austria. POLG Specificity 100 % Genes 100 %
Mitochondrial DNA depletion syndrome 4A (Alpers type). By Praxis fuer Humangenetik Wien in Austria. POLG Specificity 100 % Genes 100 %
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE). By Praxis fuer Humangenetik Wien in Austria. POLG Specificity 100 % Genes 100 %
Mitochondrial DNA depletion syndrome 4B (MNGIE type). By Praxis fuer Humangenetik Wien in Austria. POLG Specificity 100 % Genes 100 %
Ophthalmoplegia, progressive external 1. By Praxis fuer Humangenetik Wien in Austria. POLG Specificity 100 % Genes 100 %
Ophthalmoplegia, progressive external 1. By Praxis fuer Humangenetik Wien in Austria. POLG Specificity 100 % Genes 100 %
Alpers-Huttenlocher syndrome. By MedGene in Slovakia. POLG Specificity 100 % Genes 100 %
Mitochondrial DNA depletion syndrome 4A (Alpers type). By MedGene in Slovakia. POLG Specificity 100 % Genes 100 %
Mitochondrial DNA depletion syndrome 4B (MNGIE type). By MedGene in Slovakia. POLG Specificity 100 % Genes 100 %
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE). By MedGene in Slovakia. POLG Specificity 100 % Genes 100 %
Ophthalmoplegia, progressive external 1. By MedGene in Slovakia. POLG Specificity 100 % Genes 100 %
Ophthalmoplegia, progressive external 1. By MedGene in Slovakia. POLG Specificity 100 % Genes 100 %
Invitae Organic Acidemias Panel. By Invitae in United States. OPLAH, PPM1K, FTCD, SERAC1, SLC25A1, GSS, ASPA, GCDH, ETFDH, ETFA, ETFB, L2HGDH, IVD, OXCT1, SUCLG1, MLYCD, DBT, HIBCH, MUT, MMAA , (...) View the complete list with 29 more genes Panel GTR000551691 complete gene list OPLAH, PPM1K, FTCD, SERAC1, SLC25A1, GSS, ASPA, GCDH, ETFDH, ETFA, ETFB, L2HGDH, IVD, OXCT1, SUCLG1, MLYCD, DBT, HIBCH, MUT, MMAA, MMAB, MCEE, MMADHC, TAZ, D2HGDH, ETHE1, PCCA, PCCB, ACADSB, DNAJC19, ACAD8, SUCLA2, IDH2, HMGCL, TMEM70, ACSF3, OPA3, POLG, HSD17B10, MMACHC, BCKDHB, BCKDHA, AUH, BTD, HLCS, FBP1, ACAT1, MCCC2, MCCC1 Specificity 3 % Genes 100 %
Invitae Epilepsy Panel. By Invitae in United States. ITPA, SNX27, FRRS1L, NGLY1, GLRA1, C12orf57, PACS1, IER3IP1, SATB2, ZDHHC9, EHMT1, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4 , (...) View the complete list with 105 more genes Panel GTR000551760 complete gene list ITPA, SNX27, FRRS1L, NGLY1, GLRA1, C12orf57, PACS1, IER3IP1, SATB2, ZDHHC9, EHMT1, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, GNAO1, SZT2, NEXMIF, SLC13A5, KCNB1, PURA, DNM1, KCNA2, EEF1A2, SPATA5, HNRNPU, CACNA2D2, MFSD8, DNAJC5, QARS, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, SLC19A3, SCN9A, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CHRNB2, ATP1A3, ATP1A2, SGCE, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, PNKD, WWOX, CLN3, TPP1, ALDH7A1, ALDH5A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, LIAS, MECP2, POLG, ADSL, UBE3A Specificity 1 % Genes 100 %
Alpers-Huttenlocher syndrome: POLG gene screening. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. POLG Specificity 100 % Genes 100 %
Alpers-Huttenlocher syndrome: POLG gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. POLG Specificity 100 % Genes 100 %
MIGRAINE. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. ATP1A2, CACNA1A, NOTCH3, SCN1A, SLC2A1, POLG Specificity 17 % Genes 100 %
Spinocerebellar ataxia. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. ATXN8, NOP56, IFRD1, VLDLR, DNMT1, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, SLC1A3, SYNE1, SETX, ATN1, TBP, CACNA1A, ATXN7 , (...) View the complete list with 17 more genes Panel GTR000531487 complete gene list ATXN8, NOP56, IFRD1, VLDLR, DNMT1, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, SLC1A3, SYNE1, SETX, ATN1, TBP, CACNA1A, ATXN7, ATXN10, ATXN3, ATXN2, PPP2R2B, TTPA, SACS, ATXN1, APTX, FXN, COQ2, COQ8A, PDSS1, PDSS2, COQ9, AFG3L2, POLG, PRKCG Specificity 3 % Genes 100 %
Ataxia. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. IFRD1, ZNF592, PIK3R5, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, SYNE1, SETX, CACNA1A , (...) View the complete list with 12 more genes Panel GTR000531634 complete gene list IFRD1, ZNF592, PIK3R5, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, SYNE1, SETX, CACNA1A, TTPA, SACS, MTTP, MRE11, ATM, APTX, FXN, COQ8A, MTPAP, AFG3L2, POLG, PRKCG Specificity 4 % Genes 100 %
Optic atrophy. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. NDUFS1, TIMM8A, CISD2, SPG7, TMEM126A, OPA3, MFN2, POLG, WFS1, OPA1, C12orf65, AUH Specificity 9 % Genes 100 %
NGS panel - Parkinson. By Genome Diagnostics VU University Medical Center in Netherlands. SLC18A2, RAB29, PRKAR1B, DNAJC13, GIGYF2, EIF4G1, SLC30A10, DNAJC6, PRKRA, VPS35, SLC6A3, FBXO7, FTL, UCHL1, TAF1, ATP6AP2, ATP13A2, SYNJ1, ATP1A3, DCTN1 , (...) View the complete list with 16 more genes Panel GTR000529392 complete gene list SLC18A2, RAB29, PRKAR1B, DNAJC13, GIGYF2, EIF4G1, SLC30A10, DNAJC6, PRKRA, VPS35, SLC6A3, FBXO7, FTL, UCHL1, TAF1, ATP6AP2, ATP13A2, SYNJ1, ATP1A3, DCTN1, SNCA, LRRK2, GCH1, ATXN3, ATXN2, MAPT, PLA2G6, TH, GBA, PRKN, PINK1, PARK7, HTRA2, SPR, POLG, COMT Specificity 3 % Genes 100 %
Epilepsy and Seizure Disorders: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...) View the complete list with 90 more genes Panel GTR000512416 complete gene list ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, SIX3, NDE1, EMX2, DCX, CENPJ, BCKDK, PRRT2, TBC1D24, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, FOLR1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, KCNA1, CASR, KCNJ11, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, WDR62, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, CYP27A1, NDUFA1, ALDH7A1, ALDH5A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, SLC25A19, POLG, SHH, ADGRV1, ADSL, UBE3A, MTHFR Specificity 1 % Genes 100 %
Hereditary Neuropathies: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1 , (...) View the complete list with 70 more genes Panel GTR000512603 complete gene list HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1, TDP1, SLC1A3, CACNB4, KCNA1, IGHMBP2, DYNC1H1, DCTN1, SPG21, SPART, KIF1A, PNPLA6, WASHC5, BSCL2, NIPA1, L1CAM, KIF5A, SPAST, SPG11, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, TTPA, SLC12A6, SACS, PEX7, MTTP, MRE11, ATM, PLP1, GLA, ELP1, APTX, FXN, PHYH, ALDH3A2, SPG7, REEP1, COQ8A, SPTLC2, MFN2, KIF1B, GARS, POLG, PRKCG, TWNK, ATP7A, TTR Specificity 2 % Genes 100 %
Neurology: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7 , (...) View the complete list with 144 more genes Panel GTR000512608 complete gene list MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, ATR, PCNT, CDK5RAP2, GLI2, FOXH1, NODAL, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, EHMT1, LAMC3, ACTG1, ACTB, ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, ATRX, KIF1BP, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, DCX, CENPJ, ARFGEF2, BCKDK, PRRT2, TBC1D24, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, FOLR1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, LARGE1, CACNB4, POMT1, POMT2, VRK1, FGF8, FKRP, AHI1, SCN1A, CSTB, TMEM216, CLN5, POMGNT1, PPT1, FKTN, CLN8, CLN6, PTCH1, TSC1, TSC2, WDR62, SLC2A1, PCDH19, MEF2C, FOXG1, DHCR7, CDKL5, ARX, CLN3, TPP1, MKS1, ALDH7A1, SLC9A6, SLC25A22, CTSD, RARS2, TUBA1A, STXBP1, GATM, GAMT, LIAS, MECP2, SLC25A19, POLG, SHH, CEP290, ADGRV1, NPHP1, TMEM67, CC2D2A, TUBB3, ADSL, UBE3A Specificity 1 % Genes 100 %
Inherited Metabolic Disorders: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SERAC1, CD320, HYAL1, NAGA, NEU1, MFSD8, CLN5, SUMF1, SLC17A5, MCOLN1, SLC7A7, PPT1, CLN8, CLN6, NPC2, NPC1, LIPA, IDUA, IDS, GLA , (...) View the complete list with 81 more genes Panel GTR000512638 complete gene list SERAC1, CD320, HYAL1, NAGA, NEU1, MFSD8, CLN5, SUMF1, SLC17A5, MCOLN1, SLC7A7, PPT1, CLN8, CLN6, NPC2, NPC1, LIPA, IDUA, IDS, GLA, GBA, ARSA, ARSB, AGA, CLN3, TPP1, ASL, SLC25A20, SLC22A5, ASS1, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, NAGS, SLC25A15, IVD, GALC, SUCLG1, MLYCD, MAN2B1, MANBA, DBT, MUT, MMAA, MMAB, MCEE, SGSH, NAGLU, HGSNAT, GALNS, CPT1A, LPIN1, GM2A, LMBRD1, MMADHC, TAZ, OTC, HMGCS2, PCCA, PCCB, HADHB, GYS1, ENO3, G6PC, PYGL, HMGCL, TMEM70, ACSF3, SMPD1, OPA3, HADHA, SLC25A13, POLG, DLD, GLB1, GNPTAB, CPT2, CPS1, MTRR, SLC37A4, MTR, MMACHC, GAA, BCKDHB, BCKDHA, AUH, ATPAF2, HLCS, GYS2, PC, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, MCCC2, MCCC1 Specificity 1 % Genes 100 %
Neonatal and Adult Cholestasis: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SLC27A5, NR1H4, CYP7A1, PEX11B, HSD3B7, NOTCH2, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, ABCG8, ABCG5, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3 , (...) View the complete list with 37 more genes Panel GTR000512639 complete gene list SLC27A5, NR1H4, CYP7A1, PEX11B, HSD3B7, NOTCH2, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, ABCG8, ABCG5, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, TJP2, PEX6, CYP7B1, TMEM216, PKHD1, PEX1, UGT1A1, SERPINA1, PEX7, PEX2, NPC2, NPC1, LIPA, DHCR7, CFTR, MKS1, CYP27A1, MPV17, FAH, DGUOK, SMPD1, SLC25A13, POLG, NPHP4, NPHP1, NPHP3, JAG1, CC2D2A, TRMU, HNF1B, INVS, ATP8B1, ABCB4, ABCB11 Specificity 2 % Genes 100 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...) View the complete list with 87 more genes Panel GTR000558825 complete gene list ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, SIX3, NDE1, EMX2, DCX, CENPJ, BCKDK, TBC1D24, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, KCNA1, CASR, KCNJ11, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, WDR62, SLC2A1, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, FOLR1, SCN2A, SCN1B, ST3GAL5, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, NDUFA1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, SLC25A19, POLG, SHH, ADGRV1, ADSL, UBE3A, MTHFR Specificity 1 % Genes 100 %
Hereditary Neuropathies: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1 , (...) View the complete list with 70 more genes Panel GTR000560748 complete gene list HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1, TDP1, SLC1A3, CACNB4, KCNA1, IGHMBP2, DYNC1H1, DCTN1, SPG21, SPART, KIF1A, PNPLA6, WASHC5, BSCL2, NIPA1, L1CAM, KIF5A, SPAST, SPG11, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, TTPA, SLC12A6, SACS, PEX7, MTTP, MRE11, ATM, PLP1, GLA, ELP1, APTX, FXN, PHYH, ALDH3A2, SPG7, REEP1, COQ8A, SPTLC2, MFN2, KIF1B, GARS, POLG, PRKCG, TWNK, ATP7A, TTR Specificity 2 % Genes 100 %
Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...) View the complete list with 323 more genes Panel GTR000509399 complete gene list EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, VANGL1, CLCN2, CCL2, SPRED1, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, FUCA1, PEX6, GRIA3, SYP, PHF6, FGD1, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, GRIN1, NRXN1, SCN8A, MAGI2, KMT2D, MFSD8, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PRRT2, TBC1D24, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, HCN1, GRIN2B, GABRD, FOLR1, SCN2A, SCN1B, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, LAMA2, CACNB4, KCNA1, POMT1, POMT2, VRK1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, GPC3, PTCH1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, TACO1, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, ABAT, TMEM70, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, PSAP, CPT2, PAX6, ADSL, C12orf65, BCS1L, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR Specificity 1 % Genes 100 %
Lactic Acidosis-Pyruvate NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. COX10, PDHX, APTX, COX6B1, LRPPRC, ETFDH, ETFA, ETFB, DLAT, SUCLG1, NDUFAF5, NDUFS2, NDUFS6, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFAF3, ISCU, NDUFAF6 , (...) View the complete list with 49 more genes Panel GTR000509432 complete gene list COX10, PDHX, APTX, COX6B1, LRPPRC, ETFDH, ETFA, ETFB, DLAT, SUCLG1, NDUFAF5, NDUFS2, NDUFS6, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFAF3, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, TAZ, PDHA1, PUS1, ETHE1, TYMP, SCO2, COQ2, PDP1, GFM1, TK2, MRPS16, TSFM, TUFM, SLC25A3, DARS2, MRPS22, COQ8A, SUCLA2, G6PC, NDUFAF1, TMEM70, PDHB, DGUOK, DNM1L, PDSS1, PDSS2, COQ9, FH, RRM2B, FOXRED1, SLC25A4, NDUFS4, POLG, DLD, TRMU, BCS1L, ATPAF2, ATP5F1E, UQCRB, GYS2, PC, FBP1, YARS2, ACAD9 Specificity 2 % Genes 100 %
Migraine NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. PNPO, KCNQ2, FOLR1, ATP1A2, CACNA1A, SCN1A, PHGDH, PPT1, SLC2A1, PCDH19, FOXG1, CDKL5, ARX, ALDH7A1, STXBP1, GAMT, MECP2, POLG Specificity 6 % Genes 100 %
Myopathy-Rhabdomyolysis NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CPT1B, PFKM, PGAM2, PHKA1, TYMP, HADHB, TK2, POLG2, GYS1, SUCLA2, PGM1, OPA3, HADHA, RRM2B, POLG, OPA1, CPT2, GAA, TWNK, ACADVL , (...) View the complete list with 4 more genes Panel GTR000509444 complete gene list CPT1B, PFKM, PGAM2, PHKA1, TYMP, HADHB, TK2, POLG2, GYS1, SUCLA2, PGM1, OPA3, HADHA, RRM2B, POLG, OPA1, CPT2, GAA, TWNK, ACADVL, AGL, ACADM, ACADL, ACAD9 Specificity 5 % Genes 100 %
Mitochondrial DNA Depletion Syndromes NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. SUCLG1, MPV17, TYMP, TK2, POLG2, SUCLA2, DGUOK, RRM2B, SLC25A4, POLG, TWNK Specificity 10 % Genes 100 %
Parkinson-Alzheimer-Dementia NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MPO, EIF4G1, AAAS, PRKRA, A2M, VPS35, SLC6A3, FBXO7, PRNP, TREM2, CSF1R, ACE, UCHL1, TAF1, DNMT1, ATP13A2, ATP1A3, DCTN1, SNCA, LRRK2 , (...) View the complete list with 17 more genes Panel GTR000509456 complete gene list MPO, EIF4G1, AAAS, PRKRA, A2M, VPS35, SLC6A3, FBXO7, PRNP, TREM2, CSF1R, ACE, UCHL1, TAF1, DNMT1, ATP13A2, ATP1A3, DCTN1, SNCA, LRRK2, GCH1, MAPT, PSEN2, PLA2G6, TH, GBA, SNCB, PRKN, PINK1, PARK7, GRN, HTRA2, APOE, POLG, PSEN1, APP, TYROBP Specificity 3 % Genes 100 %
Nuclear-Mito NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1 , (...) View the complete list with 484 more genes Panel GTR000510915 complete gene list CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1, ECSIT, GLS, NDUFA6, HSD3B1, HSPB7, HIGD2A, GLO1, GAD2, H6PD, SHMT1, FPGS, MTHFD1L, MTHFS, MDH1, TPH2, TOMM40, ACHE, ARMS2, BCAT1, BCAT2, HSPA9, TIMM44, MTHFD1, TXN2, PARP1, COQ5, NDUFA4, FASN, CDC42BPB, DISC1, MOCOS, NDUFB9, GPX4, ABCD3, DECR1, PCK1, BCL2, NOS3, GLRA1, NTHL1, PEX11B, FTH1, SLC27A4, COA5, PMPCA, COQ4, AAAS, CLCN5, MED23, PREPL, HOGA1, TPI1, AKT1, INSR, IDH1, AKT2, HADH, DDC, EARS2, SCO1, COX10, NDUFB6, NDUFV3, NDUFA7, NDUFA8, COX4I1, MARS2, NDUFS5, MRRF, TFB1M, ACACB, IMMP2L, TXNRD2, GNAS, GNPAT, PGK1, TFAM, RSPH9, KCNE2, RYR2, ANK2, ABCC9, CLCN2, UROS, PKLR, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NARS2, PEX6, KCNQ1, KCNE1, LARS2, SLC19A2, NRXN1, CACNA2D1, MFSD8, DNAJC5, SCN5A, CHRNA4, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, KCNH2, CHRNB2, TDP1, KCNA1, KCNJ2, RYR1, CACNA1S, SPART, SPAST, CLCNKB, PDX1, KCNJ11, LRRK2, CACNA1A, ATXN7, SCN4A, CLCN1, SCN1A, GDAP1, CLN5, ABCC8, PEX1, SACS, PEX7, PPT1, PEX2, CYBB, G6PD, CLN8, CLN6, SDHD, SLC2A1, DMPK, FOXG1, CDKL5, CFTR, CPT1B, MOGS, SUGCT, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PHB, AKAP10, PNKD, CPOX, GPD2, MEN1, WWOX, OGG1, PPOX, FECH, SLC22A4, ANKRD26, CLN3, TPP1, GLRX5, SLC25A38, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, GLYCTK, FXN, GCDH, ETFDH, ETFA, ETFB, CYBA, HK1, L2HGDH, NAGS, SLC25A15, PNMT, PAK5, PACRG, NLRX1, NDUFC2, ACLY, PARL, KYNU, TSPO, FAAH, GPAM, ENO1, COX7A2, DDAH1, MAOB, BAX, MRPL48, MTCH2, AKR7A2, AGXT2, MGST3, MGLL, NPL, CKM, NIPSNAP1, USP24, TOP1MT, TST, SIRT3, SIRT1, SLC25A39, SIRT5, ALDH4A1, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, DBT, HIBCH, CYB5A, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, NME1, OAT, TCIRG1, AGXT, PAH, QDPR, PTS, PGAM2, CYP27B1, ALDH7A1, PHYH, AK2, SARDH, ALDH3A2, ALDH5A1, SUOX, MMADHC, ABCD1, ACSL4, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, OTC, AGPS, PUS1, D2HGDH, RNASEL, PPARGC1B, UCP3, UCP1, ETHE1, TYMP, GAD1, SCO2, TAP1, CISD2, DMGDH, AMT, GLDC, GCSH, HMGCS2, PCCA, PCCB, GLUD1, SPG7, COQ2, UCP2, NDUFA13, UNG, ATIC, PDP1, HADHB, GFM1, SLC25A22, TK2, SECISBP2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, ALDH2, HTRA2, MRPS16, TSFM, TUFM, SLC25A3, DARS2, ACAD8, RARS2, GYS1, MRPS22, CYCS, SUCLA2, SDHB, RPL35A, COX4I2, SPR, GATM, ENO3, LDHA, SLC25A12, TMEM126A, GFER, ABAT, GPI, SPTLC2, KARS, IDH2, SCP2, CYP11A1, CYP24A1, G6PC, NUBPL, NDUFA10, TAT, XPNPEP3, MTPAP, TTC19, HSD3B2, HMGCL, NDUFAF1, PCK2, NFU1, SARS2, TMEM70, ACAT2, ALDH6A1, PDHB, LDHB, DIABLO, GPX1, ACSF3, BOLA3, DGUOK, DNM1L, ALDH18A1, AGK, COX14, NDUFA9, GPD1, NDUFB3, LIAS, HARS, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, FH, OPA3, HADHA, PANK2, SDHC, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, CYP11B1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, FOXC1, HSD17B10, PRODH, COMT, WFS1, DTNBP1, CLCN7, PYCR1, CASP8, TRMU, ABCB6, KRT5, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, ELN, SDHAF2, ELAC2, STAR, MMACHC, ADSL, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP8B1, ATP7B, ATP5F1E, HLCS, UQCRB, UQCRQ, GYS2, PC, FBP1, YARS2, ACAT1, ACADVL, ACADS, ACADM, ACADL, ACAD9, ACACA, AARS2, MCCC2, MCCC1, TP53, MUTYH, UBE3A, HTT Specificity 1 % Genes 100 %
mtDNA Depletion Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. SUCLG1, MPV17, TYMP, TK2, POLG2, SUCLA2, DGUOK, RRM2B, SLC25A4, POLG, TWNK Specificity 10 % Genes 100 %
Hemiplegia/Stroke NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. COL4A2, COL4A1, ATP1A3, ATP1A2, CACNA1A, NOTCH3, SCN1A, SLC2A1, OTC, POLG Specificity 10 % Genes 100 %
POLG. By Fulgent Genetics Fulgent Genetics in United States. POLG Specificity 100 % Genes 100 %
Essential Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MAPK10, ACY1, TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2 , (...) View the complete list with 50 more genes Panel GTR000531690 complete gene list MAPK10, ACY1, TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2, KCNB1, SIK1, DNM1, KCNA2, PRRT2, DEPDC5, TBC1D24, ALG13, MBD5, GRIN2A, GABRG2, GABRA1, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC35A2, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, GABRB3, LGI1, CHRNB2, SCN1A, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, ALDH7A1, SLC9A6, SLC25A22, STXBP1, GAMT, MECP2, POLG, ADSL, UBE3A Specificity 2 % Genes 100 %
Early-Onset Epileptic Encephalopathy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RBFOX3, KPNA7, ARHGEF15, HCN2, TNK2, SLC12A5, ACY1, KCNH5, MTOR, NEDD4L, CLCN4, ZEB2, ATP6AP2, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP , (...) View the complete list with 113 more genes Panel GTR000531702 complete gene list RBFOX3, KPNA7, ARHGEF15, HCN2, TNK2, SLC12A5, ACY1, KCNH5, MTOR, NEDD4L, CLCN4, ZEB2, ATP6AP2, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, PIGV, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NR2F1, SLC13A5, KCNB1, SIK1, DNM1, EEF1A2, HNRNPU, MAGI2, CACNA2D2, RBFOX1, MFSD8, DNAJC5, CTSF, SRPX2, QARS, ARFGEF2, BCKDK, PIGO, PRRT2, DEPDC5, TBC1D24, ALG13, SCN5A, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, CACNB4, DYNC1H1, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, SLC6A8, FARS2, WWOX, CLN3, TPP1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, SLC25A12, LIAS, MECP2, POLG, ADGRV1, ADSL, AUH, UBE3A Specificity 1 % Genes 100 %
Comprehensive Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...) View the complete list with 427 more genes Panel GTR000531707 complete gene list RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5, HDAC4, SLC6A5, GLRA1, GLRB, DHFR, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, KCNH5, C12orf57, ANK3, MED17, CCDC88C, SNAP29, ASNS, LIG4, NHEJ1, AKT3, SLC46A1, COX10, ARL13B, RPGRIP1L, PGK1, ADAR, SMARCA2, KDM6A, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, VANGL1, MTOR, NEDD4L, CLCN2, CCL2, SPRED1, CLCN4, UBE2A, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, MED12, NTNG1, FUCA1, PEX6, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, DPM2, LAMA2, SLC1A3, CACNB4, KCNA1, POMT1, POMT2, VRK1, DYNC1H1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, HNRNPH1, KCNAB2, GPC3, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, DHCR7, CHRNA7, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, SLC6A8, FARS2, TACO1, WWOX, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, GLUD1, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, SLC25A12, ABAT, TMEM70, BOLA3, LIAS, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, ME2, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, MAGI2, CACNA2D2, RBFOX1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PSAP, CPT2, AMACR, PAX6, ADSL, C12orf65, TWNK, BCS1L, AUH, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR Specificity 1 % Genes 100 %
NCL and Progressive Myoclonic Epilepsy Panel. By Blueprint Genetics in Finland. CERS1, NEU1, SERPINI1, ATP13A2, MFSD8, DNAJC5, CTSF, BRAT1, TBC1D24, ASAH1, SCARB2, EPM2A, KCNC1, GABRB2, FOLR1, PRICKLE1, KCTD7, NHLRC1, GOSR2, CSTB , (...) View the complete list with 11 more genes Panel GTR000552733 complete gene list CERS1, NEU1, SERPINI1, ATP13A2, MFSD8, DNAJC5, CTSF, BRAT1, TBC1D24, ASAH1, SCARB2, EPM2A, KCNC1, GABRB2, FOLR1, PRICKLE1, KCTD7, NHLRC1, GOSR2, CSTB, CLN5, PPT1, CLN8, CLN6, FARS2, CLN3, TPP1, GRN, CTSD, AFG3L2, POLG Specificity 4 % Genes 100 %
Ataxia Panel. By Blueprint Genetics in Finland. CWF19L1, TMEM240, SNX14, WDR81, RUBCN, LMNB1, ITM2B, STUB1, RNF216, ELOVL5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, ATCAY, BEAN1, CAMTA1, ATP8A2, UBA5 , (...) View the complete list with 137 more genes Panel GTR000552801 complete gene list CWF19L1, TMEM240, SNX14, WDR81, RUBCN, LMNB1, ITM2B, STUB1, RNF216, ELOVL5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, ATCAY, BEAN1, CAMTA1, ATP8A2, UBA5, SERAC1, COX20, CA8, CCDC88C, ZNF423, TCTN3, SLC25A46, GSS, SLC20A2, MARS2, VLDLR, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, COASY, CP, CYP2U1, GBA2, TUBB4A, KIF1C, CAPN1, WDPCP, FBXL4, MME, CLCN2, TMEM231, LARS2, DNMT1, CLPP, GFAP, CASK, OPHN1, OFD1, KCNJ10, PNKP, PRRT2, GOSR2, ATP1A3, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, SYNE1, SETX, FA2H, PNPLA6, CACNA1A, PPP2R2B, AHI1, CSTB, ZFYVE26, TMEM216, CLN5, TTPA, SACS, PEX7, MTTP, MRE11, ATM, SLC2A1, MTFMT, HARS2, PNKD, WWOX, TPP1, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP27A1, LRPPRC, FXN, HIBCH, NDUFS2, NDUFV1, NDUFAF6, NDUFS7, NDUFS8, PHYH, ALDH5A1, SLC9A6, ABCB7, SPG7, FLVCR1, DNAJC19, COQ8A, NUBPL, MTPAP, TTC19, ACO2, AFG3L2, NDUFS4, POLG, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6, TMEM67, ELOVL4, CC2D2A, WFS1, OPA1, INPP5E, PAX6, PRKCG, TWNK, ABHD12, FDXR, FMR1 Specificity 1 % Genes 100 %
Comprehensive Muscular Dystrophy / Myopathy Panel. By Blueprint Genetics in Finland. TMEM126B, VMA21, COL4A2, RBCK1, POGLUT1, MICU1, GMPPB, LMOD3, SPEG, TOR1AIP1, TNPO3, LIMS2, KLHL41, COL12A1, MME, VPS13A, COL4A1, ITGA7, B3GALNT2, COL6A1 , (...) View the complete list with 53 more genes Panel GTR000552812 complete gene list TMEM126B, VMA21, COL4A2, RBCK1, POGLUT1, MICU1, GMPPB, LMOD3, SPEG, TOR1AIP1, TNPO3, LIMS2, KLHL41, COL12A1, MME, VPS13A, COL4A1, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, COL6A2, POMGNT2, LAMA2, SMCHD1, ISPD, SGCD, TCAP, POMT1, DNAJB6, TRAPPC11, EMD, TMEM43, SYNE1, MTM1, TNNT1, TPM2, CFL2, KBTBD13, MEGF10, ACTA1, TPM3, KLHL40, SELENON, FHL1, BAG3, ATP2A1, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, DYSF, CAV3, FKRP, PABPN1, LMNA, CAPN3, SGCG, SGCB, SGCA, NEB, FKTN, DMD, SEPT9, PNPLA2, CRYAB, POLG, TRIM32, GAA Specificity 2 % Genes 100 %
Neuro-Ophthalmology Panel. By Blueprint Genetics in Finland. FDXR, SLC38A8, CHN1, ROBO3, ANTXR1, RTN4IP1, SLC25A46, SALL4, PRPS1, NR2F1, SETX, KIF21A, HESX1, SOX2, APTX, NDUFS1, TIMM8A, FRMD7, PHOX2A, TYMP , (...) View the complete list with 18 more genes Panel GTR000552817 complete gene list FDXR, SLC38A8, CHN1, ROBO3, ANTXR1, RTN4IP1, SLC25A46, SALL4, PRPS1, NR2F1, SETX, KIF21A, HESX1, SOX2, APTX, NDUFS1, TIMM8A, FRMD7, PHOX2A, TYMP, CISD2, SPG7, TK2, TMEM126A, ACO2, OPA3, MFN2, RRM2B, SLC25A4, POLG, OTX2, WFS1, OPA1, GPR143, TUBB3, PAX6, C12orf65, TWNK Specificity 3 % Genes 100 %
Charcot-Marie-Tooth Neuropathy Panel. By Blueprint Genetics in Finland. ATAD3A, MCM3AP, PRDM12, DCAF8, ATL3, SCN11A, ARHGEF10, NGF, RETREG1, CHCHD10, SLC25A46, DST, COX10, CCT5, CTDP1, GAN, MED25, AARS, LRSAM1, TFG , (...) View the complete list with 78 more genes Panel GTR000552820 complete gene list ATAD3A, MCM3AP, PRDM12, DCAF8, ATL3, SCN11A, ARHGEF10, NGF, RETREG1, CHCHD10, SLC25A46, DST, COX10, CCT5, CTDP1, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, MME, SMAD3, PRPS1, DNMT1, SCN9A, IGHMBP2, DYNC1H1, DCTN1, SETX, KIF1A, BAG3, BSCL2, KIF5A, LDB3, MYOT, INF2, SPG11, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, SACS, ELP1, NEFH, SEPT9, FXN, HK1, SURF1, AIFM1, TYMP, HADHB, REEP1, SPTLC2, KARS, HARS, VCP, MFN2, KIF1B, GARS, POLG, GNE, AMACR, FBLN5, C12orf65, ATP7A, TTR Specificity 2 % Genes 100 %
Premature Ovarian Failure Panel. By Blueprint Genetics in Finland. FSHR, BMP15, NOBOX, CYP19A1, GNAS, NR5A1, POR, LHCGR, LMNA, CYP17A1, GALT, POLG, WT1, STAR, FOXL2 Specificity 7 % Genes 100 %
Optic Atrophy Panel. By Blueprint Genetics in Finland. FDXR, SNX10, RTN4IP1, SLC52A2, SLC25A46, PRPS1, NR2F1, NDUFS1, TIMM8A, CISD2, SPG7, TMEM126A, ACO2, OPA3, MFN2, POLG, WFS1, OPA1, C12orf65 Specificity 6 % Genes 100 %
Comprehensive Metabolism Panel. By Blueprint Genetics in Finland. PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1 , (...) View the complete list with 414 more genes Panel GTR000552745 complete gene list PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1, EGF, SSR4, CNNM2, GPHN, PCK1, HMBS, TRPM6, UROD, SLC5A1, FMO3, LCT, HGD, UMPS, FXYD2, SLC7A9, PEX11B, GYG1, PEPD, FLNB, CLDN19, CLDN16, RBCK1, SLC6A19, ACY1, SLC30A10, ECHS1, LIPT1, CLPB, SERAC1, FAM111A, MAN1B1, SLC25A1, REN, AGPAT2, PLIN1, TBC1D4, LIPE, HJV, HAMP, TFR2, SI, SLC40A1, SLC39A4, INSR, TPMT, B3GLCT, PTF1A, AKT2, SLC2A2, HADH, PCBD1, SLC46A1, TMEM165, COG5, COG6, ALG11, COG4, NBAS, TRIM37, GNPAT, CD320, PGK1, ADAR, IFIH1, ZMPSTE24, MYH3, AMPD1, FBXL4, PRKAG2, CAV1, CNNM4, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, EBP, MAGT1, LAMP2, HCFC1, SEC23B, NEU1, UROS, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, PRPS1, COL11A2, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, ATP13A2, MFSD8, FLNA, ASAH1, ALG13, EPM2A, FOLR1, SLC35A2, NHLRC1, DPM2, LAMA2, ANO10, KCNA1, KCNJ2, RYR1, CACNA1S, BSCL2, CASR, KCNJ11, GCH1, SCN4A, DYSF, COQ4, CAV3, FKRP, CLCN1, LMNA, DPYD, CLN5, ABCC8, SUMF1, SLC17A5, PEX1, MCOLN1, SLC7A7, SERPINA1, PEX7, PPT1, PEX2, CTNS, FKTN, CLN8, CLN6, GPC3, SLC2A1, RAI1, NPC2, NPC1, LIPA, IDUA, IDS, HRAS, GLA, DHCR7, GBA, ASPA, ARSA, PNP, HPD, GNMT, MOGS, DPAGT1, DOLK, SUGCT, ARSB, APRT, AHCY, AGA, ADA, ABCD4, PDHX, SLC6A8, CPOX, PPOX, FECH, CLN3, TPP1, GLRX5, ASL, APTX, PMM2, MGAT2, SLC25A20, SLC22A5, ASS1, SLC3A1, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CBS, L2HGDH, NAGS, SLC25A15, IVD, OXCT1, GALC, SUCLG1, MLYCD, MAN2B1, MANBA, DBT, HIBCH, MUT, MMAA, MMAB, MCEE, NDUFS1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CPT1A, ISCU, CTSA, MPV17, OAT, AGXT, GIF, CUBN, PAH, QDPR, PTS, PGAM2, PHKB, ACOX1, CTSK, ALDH7A1, NT5C3A, SLC35C1, PHYH, LPIN1, HEXB, ALDH5A1, SUOX, GM2A, HEXA, TCN2, LMBRD1, MMADHC, XDH, ABCD1, PHKA1, TAZ, TIMM8A, PDHA1, OTC, AGPS, D2HGDH, ALG3, MPI, TYMP, ALG6, SLC35A1, AMT, GLDC, GCSH, HMGCS2, PCCA, PCCB, GLUD1, B4GALT1, ALG12, SPG7, COQ2, UCP2, ALG2, LDB3, MYOT, ANO5, CLCNKB, BSND, SLC12A3, UMOD, HNF4A, PDX1, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, GFM1, MPDU1, TK2, ACADSB, CTSD, POLG2, PNPLA2, SLC25A3, TUSC3, COG8, COG1, ACAD8, GYS1, RFT1, COQ8A, SUCLA2, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, TMEM126A, PHKG2, CAVIN1, IDH2, G6PC, PYGL, TAT, HMGCL, FAH, PHKA2, NFU1, SARS2, DHDDS, TMEM70, PDHB, ACSF3, BOLA3, DGUOK, DNM1L, AGK, LIAS, DDOST, DHODH, COQ6, PDSS1, PDSS2, COQ9, SMPD1, FH, OPA3, HADHA, MFN2, SLC25A13, ALAS2, NDUFAF2, RRM2B, FOXRED1, GCK, SLC25A4, POLG, DLD, HPRT1, HSD17B10, GNE, SRD5A3, ATP6V0A2, PRODH, GLB1, GNPTAB, PSAP, WFS1, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, SLC37A4, MTR, HNF1B, AMN, COL2A1, PPARG, MMACHC, HNF1A, ADSL, GAA, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATP7B, BTD, HLCS, ARG1, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, MCCC2, MCCC1, MTHFR, HFE Specificity 1 % Genes 100 %
Metabolic Epilepsy Panel. By Blueprint Genetics in Finland. SLC39A8, DPYS, GPHN, DHFR, SERAC1, SLC25A1, SLC46A1, PGK1, PNPO, GCH1, DPYD, SLC2A1, AGA, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, HIBCH , (...) View the complete list with 21 more genes Panel GTR000552746 complete gene list SLC39A8, DPYS, GPHN, DHFR, SERAC1, SLC25A1, SLC46A1, PGK1, PNPO, GCH1, DPYD, SLC2A1, AGA, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, HIBCH, MOCS1, QDPR, PTS, ALDH7A1, ALDH5A1, SUOX, D2HGDH, ETHE1, AMT, GLDC, GAMT, ABAT, DNM1L, FH, POLG, GNE, PRODH, ADSL, BTD, ARG1, MTHFR Specificity 3 % Genes 100 %
Epileptic Encephalopathy Panel. By Blueprint Genetics in Finland. TBCK, RMND1, MRPL44, GTPBP3, HECW2, LYRM7, NACC1, UNC80, FAR1, GPHN, SLC12A5, APOPT1, FGF12, ECHS1, UBA5, TBCD, SERAC1, TBCE, SLC25A1, ASNS , (...) View the complete list with 108 more genes Panel GTR000552752 complete gene list TBCK, RMND1, MRPL44, GTPBP3, HECW2, LYRM7, NACC1, UNC80, FAR1, GPHN, SLC12A5, APOPT1, FGF12, ECHS1, UBA5, TBCD, SERAC1, TBCE, SLC25A1, ASNS, HEPACAM, SCO1, ADAR, NECAP1, CLCN4, TREX1, ZEB2, CASK, SYN1, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, HNRNPU, FLNA, DCX, BRAT1, TBC1D24, ALG13, MBD5, GRIN2A, GABRG2, GABRA1, CHD2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRB2, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, GABRB3, KIF1A, CACNA1A, SCN1A, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, MTFMT, SLC6A8, FARS2, WWOX, COX6B1, LRPPRC, HIBCH, NDUFS2, NDUFV1, SDHAF1, MOCS1, NDUFAF6, NDUFS7, NDUFS8, ALDH7A1, SLC9A6, D2HGDH, ETHE1, AMT, GLDC, SLC25A22, STXBP1, GAMT, ABAT, NUBPL, TTC19, DNM1L, MECP2, NDUFS4, POLG, CPT2, ADSL, UBE3A, MTHFR, HTT Specificity 1 % Genes 100 %
Metabolic Myopathy and Rhabdomyolysis Panel. By Blueprint Genetics in Finland. TANGO2, FLAD1, GYG1, RBCK1, PGK1, MYH3, AMPD1, RYR1, ANO5, SCN4A, DYSF, CAV3, FKRP, FKTN, AHCY, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB , (...) View the complete list with 32 more genes Panel GTR000552758 complete gene list TANGO2, FLAD1, GYG1, RBCK1, PGK1, MYH3, AMPD1, RYR1, ANO5, SCN4A, DYSF, CAV3, FKRP, FKTN, AHCY, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, ISCU, PGAM2, LPIN1, PHKA1, TYMP, COQ2, HADHB, TK2, POLG2, GYS1, COQ8A, SUCLA2, ENO3, LDHA, PGM1, OPA3, HADHA, RRM2B, POLG, OPA1, CPT2, GAA, TWNK, ALDOA, ACADVL, AGL, ACADM, ACADL, ACAD9 Specificity 2 % Genes 100 %
Mitochondrial DNA Depletion Syndrome Panel. By Blueprint Genetics in Finland. FBXL4, APTX, SUCLG1, NDUFS1, MPV17, TIMM8A, TYMP, SPG7, TK2, POLG2, SLC25A3, SUCLA2, TMEM126A, DGUOK, AGK, OPA3, MFN2, RRM2B, SLC25A4, POLG , (...) View the complete list with 5 more genes Panel GTR000552763 complete gene list FBXL4, APTX, SUCLG1, NDUFS1, MPV17, TIMM8A, TYMP, SPG7, TK2, POLG2, SLC25A3, SUCLA2, TMEM126A, DGUOK, AGK, OPA3, MFN2, RRM2B, SLC25A4, POLG, WFS1, OPA1, C12orf65, TWNK, AUH Specificity 4 % Genes 100 %
Migraine Panel. By Blueprint Genetics in Finland. KCNK18, PRRT2, ATP1A3, ATP1A2, SLC1A3, CACNA1A, NOTCH3, SCN1A, SLC2A1, POLG Specificity 10 % Genes 100 %
Comprehensive Epilepsy Panel. By Blueprint Genetics in Finland. SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT , (...) View the complete list with 263 more genes Panel GTR000552774 complete gene list SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT, SLC12A5, GLRB, DHFR, FAM126A, CERS1, APOPT1, POLR3B, POLR3A, LMNB1, FGF12, RNF216, RARS, ECHS1, GNB1, UBA5, TBCD, SERAC1, TBCE, PYCR2, CC2D1A, GRIK2, SLC25A1, IBA57, ASNS, HEPACAM, DDC, EARS2, SLC46A1, CSF1R, SCO1, MARS2, CTC1, RNASET2, PGK1, AP4M1, AP4E1, AP4B1, AP4S1, ADAR, TUBB4A, HACE1, MTOR, CLCN2, NECAP1, CLCN4, TAF1, UBE2A, NEU1, MED12, SOX10, HTRA1, VPS13A, GFAP, TREX1, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, ARHGEF9, GRIA3, PHF6, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, PIGN, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, HNRNPU, MAGI2, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, RELN, DCX, COL4A1, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A3, CACNB4, KCNA1, FA2H, KIF1A, CASR, GCH1, CACNA1A, NOTCH3, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, DPYD, EIF2B5, CLN5, SUMF1, MLC1, PPT1, CLN8, CLN6, TSC1, SYNGAP1, TSC2, SLC2A1, PLP1, PCDH19, MEF2C, GJC2, FOXG1, EIF2B1, CDKL5, ARX, ASPA, ARSA, AGA, MTFMT, SLC6A8, FARS2, WWOX, CLN3, TPP1, CYP27A1, COX6B1, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, GALC, HIBCH, NDUFAF5, NDUFS2, NDUFV1, SDHAF1, MOCS1, NDUFAF6, NDUFS7, NDUFS8, COX15, QDPR, PTS, ALDH7A1, ALDH3A2, ALDH5A1, SUOX, ABCD1, SLC9A6, AIFM1, D2HGDH, ETHE1, AMT, GLDC, GRN, GFM1, SLC25A22, CTSD, DARS2, STXBP1, GAMT, ABAT, NUBPL, TTC19, NFU1, DNM1L, MECP2, FH, FOXRED1, AFG3L2, HSPD1, NDUFS4, POLG, HSD17B10, GNE, PRODH, GLB1, PSAP, CPT2, AMACR, ADSL, BTD, ARG1, UBE3A, MTHFR, HTT Specificity 1 % Genes 100 %
Idiopathic Generalized and Focal Epilepsy Panel. By Blueprint Genetics in Finland. MTOR, CLCN2, SCN8A, RELN, PRRT2, DEPDC5, TBC1D24, GRIN2A, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNC1, KCNQ3, KCNQ2, KCNT1, SLC6A1, STX1B, SCN2A, SCN1B , (...) View the complete list with 14 more genes Panel GTR000552780 complete gene list MTOR, CLCN2, SCN8A, RELN, PRRT2, DEPDC5, TBC1D24, GRIN2A, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNC1, KCNQ3, KCNQ2, KCNT1, SLC6A1, STX1B, SCN2A, SCN1B, SCN9A, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, CACNB4, KCNA1, CASR, SCN1A, SLC2A1, ALDH7A1, POLG, AMACR Specificity 3 % Genes 100 %
Progressive external ophthalmoplegia, autosomal dominant. By Bioarray in Spain. POLG Specificity 100 % Genes 100 %
CarrierMap. By Recombine in United States. VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37 , (...) View the complete list with 281 more genes Panel GTR000528277 complete gene list VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37, EDA, CIITA, COL7A1, SLC39A4, ERCC8, RAG2, VSX2, EIF2AK3, LPL, EVC2, EVC, FANCG, FANCA, F8, F9, SRD5A2, MEFV, TECPR2, ERCC6, DNAI1, DNAI2, LYST, CTSC, EXOSC3, POR, RAB23, CHRNG, PEX10, LOXHD1, PEX6, PRPS1, SLC4A11, MYO15A, ATP6V1B1, VPS13A, VPS13B, MFSD8, TSEN54, SGCD, EMD, VRK1, MTM1, COL4A5, BSND, SLC12A3, COL4A4, CYP21A2, KCNJ11, LHCGR, DYSF, FKRP, NTRK1, GJB1, TMEM216, TGM1, RAPSN, PKHD1, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1, PEX1, MPL, MCOLN1, MLC1, LAMA3, GRHPR, TH, UGT1A1, SLC35A3, SLC26A2, SACS, SLC7A7, SERPINA1, SGCB, SGCA, PEX7, PPT1, DCLRE1C, NPHS1, PROP1, NPHS2, PEX2, CYBB, CTNS, NEB, HBA2, G6PD, MTTP, FKTN, LAMB3, HBA1, DOK7, COL4A3, CLN8, CLN6, CHRNE, ADAMTS2, BRIP1, NBN, ATM, SMN1, RMRP, NPC2, NPC1, LIPA, IDUA, IDS, GLA, GJB2, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AR, AIRE, IL2RG, ARSB, AGA, ADA, NR2E3, CYP17A1, TPP1, ASL, BBS2, BBS1, BBS10, MKS1, BBS12, PMM2, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, LRPPRC, GALK1, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CYBA, CBS, SLC25A15, IVD, GALC, MLYCD, MAN2B1, DBT, MUT, MMAA, MMAB, NDUFS6, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CPT1A, MPV17, TCIRG1, AGXT, PAH, PTS, ACOX1, CTSK, HEXB, ALDH3A2, HEXA, ABCD1, PDHA1, OTC, PUS1, MYO7A, ETHE1, MPI, TYMP, ALG6, LCA5, AMT, GLDC, PCCA, PCCB, CERKL, HADHB, HAX1, RARS2, RDH12, GAMT, G6PC, TAT, FAM161A, HSD3B2, HMGCL, FAH, RS1, DHDDS, HPS3, PDHB, HPS1, CDH23, SLC26A4, CYP11B2, SMPD1, GUCY2D, RLBP1, RPE65, FH, OPA3, HADHA, SLC25A13, CYP11B1, POLG, DLD, PCDH15, USH2A, TRIM32, CLRN1, CEP290, CYP1B1, ABCA4, OCRL, GNE, GLB1, GNPTAB, TRMU, CPT2, HSD17B4, ABCA12, SLC37A4, TYR, CHM, SLC45A2, STAR, TYRP1, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, USH1C, PC, ALDOB, ACAT1, ACADVL, AGL, ACADS, ACADM, ABCB11, MCCC2, MCCC1, HPS4, MTHFR, FMR1 Specificity 1 % Genes 100 %
POLG Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. POLG Specificity 100 % Genes 100 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test. By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan. FGF19, ONECUT1, HES1, ABCC4, ABCC3, SLCO2B1, SLCO1A2, SLC51B, SLC51A, CHMP5, FOXM1, CD14, MYO5B, NR1H4, COPA, CYP7A1, SEC63, SLCO1B3, SLCO1B1, HSD3B7 , (...) View the complete list with 53 more genes Panel GTR000558423 complete gene list FGF19, ONECUT1, HES1, ABCC4, ABCC3, SLCO2B1, SLCO1A2, SLC51B, SLC51A, CHMP5, FOXM1, CD14, MYO5B, NR1H4, COPA, CYP7A1, SEC63, SLCO1B3, SLCO1B1, HSD3B7, NOTCH2, SLC10A1, EPHX1, CLDN1, HJV, HAMP, PRKCSH, TFR2, ABCC2, SLC40A1, BAAT, VPS33B, SCO1, AKR1D1, FTL, TFAM, ABCB1, TJP2, DCDC2, CYP7B1, PKD1, PKD2, PKHD1, UGT1A1, SERPINA1, HBA2, G6PD, HBA1, NPC2, NPC1, LIPA, CFTR, ASL, CYP27A1, ASS1, SUCLG1, MPV17, DGUOK, SLC25A13, RRM2B, POLG, JAG1, AMACR, HNF1B, HBB, INVS, TWNK, BCS1L, ATP8B1, ATP7B, ABCB4, ABCB11, HFE Specificity 2 % Genes 100 %
MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM. By Laboratorio de Genetica Clinica SL in Spain. MPV17, DGUOK, POLG, TWNK Specificity 25 % Genes 100 %
ALPERS-HUTTENLOCHER SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. POLG Specificity 100 % Genes 100 %
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE). By Laboratorio de Genetica Clinica SL in Spain. TYMP, RRM2B, POLG Specificity 34 % Genes 100 %
SENSORY ATAXIC NEUROPATHY - DYSARTHRIA - OPHTHALMOPARESIS (SANDO). By Laboratorio de Genetica Clinica SL in Spain. POLG Specificity 100 % Genes 100 %
OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL (PEO). By Laboratorio de Genetica Clinica SL in Spain. POLG2, SLC25A4, POLG, TWNK Specificity 25 % Genes 100 %
Spastic paraplegia panel, autosomal dominant. By LifeLabs Genetics in Canada. ZFYVE27, RTN2, WASHC5, BSCL2, SLC33A1, NIPA1, KIF5A, SPAST, ATL1, POLG2, REEP1, HSPD1, POLG Specificity 8 % Genes 100 %
Alpers-Huttenlocher Syndrome, Sequencing POLG Gene. By Reference Laboratory Genetics in Spain. POLG Specificity 100 % Genes 100 %
Alpers-Huttenlocher Syndrome, Deletions-Duplications (MLPA) POLG Gene. By Reference Laboratory Genetics in Spain. POLG Specificity 100 % Genes 100 %
Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes. By Reference Laboratory Genetics in Spain. ATXN8, NOP56, VLDLR, DNMT1, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, SYNE1, SETX, ATN1, TBP, CACNA1A, ATXN7, ATXN10, ATXN3, ATXN2 , (...) View the complete list with 14 more genes Panel GTR000559534 complete gene list ATXN8, NOP56, VLDLR, DNMT1, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, SYNE1, SETX, ATN1, TBP, CACNA1A, ATXN7, ATXN10, ATXN3, ATXN2, PPP2R2B, TTPA, SACS, ATXN1, APTX, FXN, COQ2, COQ8A, PDSS1, PDSS2, COQ9, AFG3L2, POLG, PRKCG Specificity 3 % Genes 100 %
Familial Hemiplegic Migraine , Panel Massive Sequencing (NGS) 6 Genes. By Reference Laboratory Genetics in Spain. ATP1A2, CACNA1A, NOTCH3, SCN1A, SLC2A1, POLG Specificity 17 % Genes 100 %
Progressive External Ophthalmoplegia , Panel Massive Sequencing (NGS) 7 Genes. By Reference Laboratory Genetics in Spain. ROBO3, POLG2, RRM2B, SLC25A4, POLG, OPA1, TWNK Specificity 15 % Genes 100 %
Mitochondrial DNA Depletion Syndrome , Panel Massive Sequencing (NGS) 14 Genes. By Reference Laboratory Genetics in Spain. SUCLG1, MPV17, TYMP, TK2, POLG2, SUCLA2, GFER, DGUOK, MFN2, RRM2B, SLC25A4, POLG, OPA1, TWNK Specificity 8 % Genes 100 %
POLG-Related Disorders: gene sequencing. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. POLG Specificity 100 % Genes 100 %

Alternate names

Mitochondrial Dna Depletion Syndrome 4a (alpers Type); Mtdps4a Is also known as alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis, alpers progressive infantile poliodystrophy, alpers syndrome, alpers-huttenlocher syndrome, neuronal degeneration of childhood with liver disease, progressive;pndc;alpers progressive sclerosing poliodystrophy; alpers syndrome; progressive neuronal degeneration of childhood with liver disease.

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