Glut1 Deficiency Syndrome 2; Glut1ds2

Description

GLUT1 deficiency syndrome-2 is an autosomal dominant disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia involves transient abnormal involuntary movements, such as dystonia and choreoathetosis, induced by exercise or exertion, and affecting the exercised limbs. Some patients may also have epilepsy, most commonly childhood absence epilepsy, with an average onset of about 2 to 3 years. Mild mental retardation may also occur. One family has been reported with the additional feature of hemolytic anemia (Weber et al., 2008). GLUT1 deficiency syndrome-2 shows wide clinical variability both within and between affected families. The disorder, which results from a defect in the GLUT1 glucose transporter causing decreased glucose concentration in the central nervous system, is part of a spectrum of neurologic phenotypes resulting from GLUT1 deficiency. GLUT1 deficiency syndrome-1 (OMIM ) represents the more severe end of the phenotypic spectrum. Correct diagnosis of GLUT1 deficiency is important because a ketogenic diet often results in marked clinical improvement in motor and seizure symptoms (reviews by Pascual et al., 2004 and Brockmann, 2009).

Genes related to Glut1 Deficiency Syndrome 2; Glut1ds2

SLC2A1
PRRT2

Clinical Features

Top most frequent phenotypes and symptoms related to Glut1 Deficiency Syndrome 2; Glut1ds2

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Pica
Microcephaly
Ataxia
Nystagmus
Muscle weakness
Milia

And another 58 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Glut1 Deficiency Syndrome 2; Glut1ds2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SLC2A1 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. SLC2A1 Specificity 100 % Genes 50 %
SLC2A1 Sequence Analysis (Familial Mutation/Variant Analysis). By Baylor Miraca Genetics Laboratories in United States. SLC2A1 Specificity 100 % Genes 50 %
SLC2A1 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. SLC2A1 Specificity 100 % Genes 50 %
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies. By Athena Diagnostics Inc in United States. ALPL, ADSL, SLC25A19, LIAS, ABAT, GAMT, GATM, SUCLA2, ALG9, GLDC, AMT, ALDH7A1, NDUFA1, L2HGDH, CYP27A1, SLC6A8, CHRNA7, PCDH19, SLC2A1, PHGDH , (...) View the complete list with 64 more genes Panel GTR000559453 complete gene list ALPL, ADSL, SLC25A19, LIAS, ABAT, GAMT, GATM, SUCLA2, ALG9, GLDC, AMT, ALDH7A1, NDUFA1, L2HGDH, CYP27A1, SLC6A8, CHRNA7, PCDH19, SLC2A1, PHGDH, CSTB, SCN1A, CACNA1A, CASR, DYNC1H1, CACNB4, ASPM, ATP1A3, CACNA1H, CHRNB2, CPA6, EFHC1, CRH, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, KCNH2, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, STX1B, SLC35A2, SLC6A1, FOLR1, GABRB2, GABRD, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, HCN4, LMNB2, MBD5, KCNMA1, SCARB2, SCN5A, SLC4A10, ALG13, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK Specificity 3 % Genes 100 %
Epilepsy Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc in United States. UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...) View the complete list with 214 more genes Panel GTR000559466 complete gene list UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2, TUBA1A, CTSD, SLC25A22, ALG9, GRN, GLDC, AMT, SLC9A6, ALDH7A1, NDUFA1, L2HGDH, CYP27A1, TPP1, CLN3, WWOX, SLC6A8, FGFR3, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, PLP1, RAI1, SLC2A1, WDR62, TSC2, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, GPC3, CLN6, CLN8, FKTN, PPT1, PEX7, POMGNT1, CLN5, PHGDH, PLA2G6, DPYD, CSTB, SCN1A, NOTCH3, FKRP, CACNA1A, KCNJ11, CASR, DYNC1H1, POMT2, POMT1, KCNA1, CACNB4, LAMA2, LARGE1, MCPH1, ASPM, ATP1A2, ATP1A3, CACNA1H, CHRNB2, CPA6, EFHC1, CRH, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, KCNH2, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, STX1B, SLC35A2, SLC6A1, FOLR1, GABRB2, GABRD, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, HCN4, LMNB2, MBD5, KCNMA1, SCARB2, SCN5A, SLC4A10, ALG13, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK, COL4A1, ARFGEF2, CENPJ, DEAF1, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, CTSF, DNAJC5, MFSD8, ATP13A2, KMT2D, CACNA2D1, RBFOX1, CACNA2D2, MAGI2, HNRNPU, SETD2, TBL1XR1, SPATA5, EEF1A2, KCNA2, DNM1, SIK1, SNAP25, PURA, KCNB1, SLC13A5, DOCK7, NR2F1, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, SERPINI1, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, VPS13A, TBX1, LBR, ATP2A2 Specificity 1 % Genes 100 %
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy. By Athena Diagnostics Inc in United States. UBE3A, ADSL, SLC25A19, MECP2, LIAS, STXBP1, SLC25A22, ALG9, GLDC, AMT, SLC9A6, WWOX, ARX, CDKL5, FOXG1, PCDH19, SLC2A1, SYNGAP1, SCN1A, KCNJ11 , (...) View the complete list with 47 more genes Panel GTR000559467 complete gene list UBE3A, ADSL, SLC25A19, MECP2, LIAS, STXBP1, SLC25A22, ALG9, GLDC, AMT, SLC9A6, WWOX, ARX, CDKL5, FOXG1, PCDH19, SLC2A1, SYNGAP1, SCN1A, KCNJ11, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SLC35A2, GRIN2B, HCN1, KCNT1, PNPO, CHD2, GABRG2, GRIN2A, ALG13, BRAT1, QARS, CACNA2D1, CACNA2D2, HNRNPU, EEF1A2, KCNA2, DNM1, SIK1, PURA, KCNB1, SLC13A5, DOCK7, SZT2, GNAO1, WDR45, SCN8A, PIGA, NRXN1, GRIN1, PIGN, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, ARHGEF9, ZEB2, TREX1 Specificity 2 % Genes 50 %
Epilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine. By Athena Diagnostics Inc in United States. POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, ATP1A2, PRRT2 Specificity 29 % Genes 100 %
Syndromic Autism Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, STXBP1, TUBA1A, AMT, SLC9A6, ALDH5A1, TMLHE, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, MEF2C , (...) View the complete list with 63 more genes Panel GTR000522577 complete gene list FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, STXBP1, TUBA1A, AMT, SLC9A6, ALDH5A1, TMLHE, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, SLC2A1, HDAC8, TSC2, RAD21, SMC3, SMC1A, TSC1, NIPBL, NSD1, SCN1A, L1CAM, SYNE1, GABRB3, SCN2A, FOLR1, GRIN2B, MBD5, BCKDK, PQBP1, RELN, PAFAH1B1, SETD2, TBL1XR1, NRXN1, DYRK1A, PNKP, TCF4, CNTNAP2, ATRX, FGD1, PHF6, KDM5C, OPHN1, CASK, RAB39B, SETBP1, ZEB2, VPS13B, SHANK3, PTCHD1, ADNP, NTNG1, MID1, MED12, LAMC3, KIRREL3, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TBR1, TMEM231, ARID1B, UBE3C, CTNNB1, NLGN4X, NLGN3 Specificity 2 % Genes 50 %
Rett-Angelman Syndrome 2nd-Tier Sequencing Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, FOLR1, MBD5, PQBP1, NRXN1, PNKP, TCF4, CNTNAP2, ATRX, OPHN1, ZEB2, EHMT1 , (...) View the complete list with 1 more genes Panel GTR000522605 complete gene list UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, FOLR1, MBD5, PQBP1, NRXN1, PNKP, TCF4, CNTNAP2, ATRX, OPHN1, ZEB2, EHMT1, CTNNB1 Specificity 5 % Genes 50 %
NGS Epilepsy/Seizure Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. MTHFR, UBE3A, ADSL, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3, ARX , (...) View the complete list with 125 more genes Panel GTR000525129 complete gene list MTHFR, UBE3A, ADSL, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, WDR62, TSC2, SYNGAP1, TSC1, PTCH1, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A, CACNA1A, KCNJ11, CASR, KCNA1, CACNB4, MCPH1, ASPM, ATP1A2, CHRNB2, EFHC1, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN9A, ST3GAL5, SCN1B, SCN2A, SYNJ1, SLC35A2, FOLR1, GABRD, GRIN2B, KCNT1, KCNQ2, KCNQ3, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, SCN5A, TBC1D24, DEPDC5, PRRT2, ARFGEF2, CENPJ, DCX, EMX2, QARS, NDE1, SIX3, RELN, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, MFSD8, CACNA2D1, MAGI2, HNRNPU, SNAP25, SLC13A5, DOCK7, SZT2, ST3GAL3, KANSL1, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, IQSEC2, PHF6, ARHGEF9, SYN1, OPHN1, ATP6AP2, CASK, ZEB2, NECAP1, CCL2, CLCN2, NEDD4L, MTOR, VANGL1, KCNAB1, EXOSC3, TSEN34, TSEN2, TUBB2A, TGIF1, ZIC2, NALCN, CEP152, ABCB1, NODAL, FOXH1, CDON, GLI2, CDK5RAP2, FLVCR2, PCNT, ATR Specificity 2 % Genes 100 %
Hereditary Spastic Paraplegia Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. C12orf65, TUBB3, HSPD1, OPA3, MECP2, ALDH18A1, REEP1, SPG7, ABCD1, ACOX1, FARS2, GJC2, PLP1, SLC2A1, SACS, PLA2G6, ATL1, ZFYVE26, SPG11, SPAST , (...) View the complete list with 59 more genes Panel GTR000559513 complete gene list C12orf65, TUBB3, HSPD1, OPA3, MECP2, ALDH18A1, REEP1, SPG7, ABCD1, ACOX1, FARS2, GJC2, PLP1, SLC2A1, SACS, PLA2G6, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, BICD2, VAMP1, PQBP1, ATP13A2, WDR45, SAMHD1, RNASEH2B, KDM5C, TREX1, SLC16A2, EXOSC3, MARS, TFG, ERLIN1, REEP2, KIDINS220, CAPN1, HACE1, KLC2, MAG, CPT1C, IFIH1, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, UCHL1, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27 Specificity 2 % Genes 50 %
Autsim Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1 , (...) View the complete list with 87 more genes Panel GTR000528547 complete gene list FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, SLC2A1, TSC2, SMC1A, TSC1, NIPBL, NSD1, MET, SCN1A, SPAST, L1CAM, GABRB3, SCN2A, FOLR1, GRIN2B, MBD5, PQBP1, RELN, PAFAH1B1, RBFOX1, NRXN1, ANKRD11, PNKP, TCF4, CNTNAP2, ATRX, FGD1, PHF6, KDM5C, OPHN1, CASK, RAB39B, ZEB2, VPS13B, SHANK3, SHANK2, PTCHD1, NTNG1, MID1, MED12, LAMC3, KIRREL3, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, NLGN4X, NLGN3, AFF2, UBE2A, RPL10, SNRPN, MAGEL2, SMARCB1, SLC9A9, PCDH9, GRPR, DPP6, DPP10, DLGAP2, CNTNAP5, ZNHIT6, ZNF804A, ZNF507, STK3, ST7, SOX5, SMG6, SATB2, PON3, PIP5K1B, PDE10A, NEGR1, KLHL3, KCTD13, KATNAL2, IMMP2L, GNA14, GABRG1, DOCK4, AUTS2, SLC6A4, BDNF, AVPR1A, NR1I3 Specificity 1 % Genes 50 %
Childhood Epilepsy. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. UBE3A, ADSL, POLG, MECP2, GAMT, GATM, CTSD, SLC9A6, TPP1, CLN3, CDKL5, FOXG1, MEF2C, SLC2A1, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A , (...) View the complete list with 27 more genes Panel GTR000552155 complete gene list UBE3A, ADSL, POLG, MECP2, GAMT, GATM, CTSD, SLC9A6, TPP1, CLN3, CDKL5, FOXG1, MEF2C, SLC2A1, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A, CACNB4, CHRNB2, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, SCN1B, SCN2A, FOLR1, CHRNA2, CHRNA4, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, TBC1D24, MFSD8, MAGI2, WDR45, NRXN1, PNKP, CNTNAP2, SYN1, ZEB2 Specificity 3 % Genes 50 %
Dystonia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...) View the complete list with 57 more genes Panel GTR000552212 complete gene list PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1, DLAT, L2HGDH, GCDH, FASTKD2, CYP27A1, PRKN, APTX, PNKD, PDHX, ARSA, ARX, FOXG1, NPC2, PLP1, SLC2A1, ATM, TH, MCOLN1, CACNA1A, TOR1A, THAP1, GCH1, SGCE, FA2H, CHMP2B, ATP1A2, ATP1A3, SLC19A3, KCNQ2, PRRT2, ATP13A2, WDR45, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, VPS13A, AP1S2, TAF1, ERCC6, C19orf12, ADAR, CP, DCAF17, TREM2, DRD5, SLC46A1, TPK1, SLC20A2, MAT1A, FBXO7, EARS2, DDC, MR1, DRD2, SLC6A3 Specificity 3 % Genes 100 %
Epilepsy/Seizure. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. MTHFR, UBE3A, BTD, ADSL, MMACHC, ADGRV1, POLG, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...) View the complete list with 78 more genes Panel GTR000552213 complete gene list MTHFR, UBE3A, BTD, ADSL, MMACHC, ADGRV1, POLG, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1, PTS, QDPR, TPP1, CLN3, SLC6A8, ARX, CDKL5, FOXG1, MEF2C, SLC2A1, WDR62, TSC2, TSC1, CLN6, CLN8, PPT1, CLN5, PHGDH, CSTB, SCN1A, CACNA1A, GCH1, CASR, CACNB4, MCPH1, ASPM, ATP1A2, CHRNB2, CPA6, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, SCN1B, SCN2A, FOLR1, KCNQ2, KCNQ3, PNPO, CHRNA2, CHRNA4, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, KCNMA1, SCARB2, TBC1D24, PRRT2, DCX, FLNA, TSEN54, PAFAH1B1, ADGRG1, DNAJC5, MFSD8, MAGI2, WDR45, SCN8A, NRXN1, PLCB1, SPTAN1, PNKP, KCNJ10, CNTNAP2, ARHGEF9, SYN1, OPHN1, CASK, ZEB2, PCBD1, PSPH Specificity 3 % Genes 100 %
Infantile Epilepsy. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. MTHFR, UBE3A, BTD, ADSL, MMACHC, POLG, MECP2, LIAS, GAMT, STXBP1, CTSD, SLC25A22, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1, PTS, QDPR, TPP1 , (...) View the complete list with 40 more genes Panel GTR000552301 complete gene list MTHFR, UBE3A, BTD, ADSL, MMACHC, POLG, MECP2, LIAS, GAMT, STXBP1, CTSD, SLC25A22, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1, PTS, QDPR, TPP1, CLN3, SLC6A8, ARX, CDKL5, FOXG1, MEF2C, SLC2A1, TSC2, TSC1, CLN6, CLN8, PPT1, CLN5, PHGDH, SCN1A, GCH1, KCTD7, SCN1B, SCN2A, FOLR1, KCNQ2, KCNQ3, PNPO, GABRG2, GRIN2A, MBD5, TBC1D24, PRRT2, MFSD8, MAGI2, WDR45, SCN8A, NRXN1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, ZEB2, PCBD1 Specificity 4 % Genes 100 %
Migraine and Strokes Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, ATP1A2, COL4A1, HTRA1 Specificity 13 % Genes 50 %
Movement Disorders Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. PTEN, ATP7B, AUH, PSEN1, HPRT1, TRIM32, POLG, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PARK7, PINK1, SQSTM1, TIMM8A, MMADHC, SUOX , (...) View the complete list with 72 more genes Panel GTR000552328 complete gene list PTEN, ATP7B, AUH, PSEN1, HPRT1, TRIM32, POLG, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PARK7, PINK1, SQSTM1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1, DLAT, L2HGDH, GCDH, FASTKD2, CYP27A1, PRKN, APTX, PNKD, PDHX, ARSA, ARX, GBA, FOXG1, NPC2, PLP1, SLC2A1, ATM, TH, MCOLN1, PLA2G6, MAPT, CACNA1A, TOR1A, THAP1, GCH1, LRRK2, SGCE, SNCA, KIF1A, FA2H, DCTN1, CHMP2B, ATP1A2, ATP1A3, SLC19A3, KCNQ2, PRRT2, ATP13A2, WDR45, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, VPS13A, FUCA1, AP1S2, TAF1, ERCC6, C19orf12, ADAR, FTL, CP, DCAF17, CSF1R, TREM2, DRD5, SLC46A1, TPK1, SLC20A2, MAT1A, FBXO7, EARS2, DDC, MR1, DRD2, SLC6A3, VPS35 Specificity 3 % Genes 100 %
Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. SLC2A1, COL4A1, PIEZO1, ABCG5, ABCG8, SLC4A1, GYPC, ATP11C, KCNN4, EPB41, SPTB, SPTA1, ANK1, XK, EPB42, RHAG Specificity 7 % Genes 50 %
Hemolytic Anemia Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. ALDOA, ALAS2, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, SLC2A1, G6PD, COL4A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, ABCG5 , (...) View the complete list with 18 more genes Panel GTR000509191 complete gene list ALDOA, ALAS2, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, SLC2A1, G6PD, COL4A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, ABCG5, ABCG8, SLC4A1, GYPC, ATP11C, KCNN4, EPB41, SPTB, SPTA1, ANK1, XK, EPB42, RHAG, GCLC, GSR, TPI1, GSS, C15orf41, LPIN2 Specificity 3 % Genes 50 %
SLC2A1 (GLUT1) Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. SLC2A1 Specificity 100 % Genes 50 %
SLC2A1 (GLUT1) Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. SLC2A1 Specificity 100 % Genes 50 %
Hemolytic Anemia Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. ALDOA, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, SLC2A1, G6PD, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, ABCG5, ABCG8, SLC4A1 , (...) View the complete list with 14 more genes Panel GTR000528591 complete gene list ALDOA, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, SLC2A1, G6PD, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, ABCG5, ABCG8, SLC4A1, GYPC, EPB41, SPTB, SPTA1, ANK1, XK, EPB42, RHAG, GCLC, GSR, TPI1, GSS, C15orf41, LPIN2 Specificity 3 % Genes 50 %
Red Blood Cell Membrane Disorders Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. SLC2A1, PIEZO1, ABCG5, ABCG8, SLC4A1, GYPC, EPB41, SPTB, SPTA1, ANK1, XK, EPB42, RHAG Specificity 8 % Genes 50 %
SLC2A1 sequencing. By Genetic Services Laboratory University of Chicago in United States. SLC2A1 Specificity 100 % Genes 50 %
Rett/Angelman Syndrome Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, FOLR1, MBD5, NRXN1, DYRK1A, PNKP, TCF4, CNTNAP2, ATRX, OPHN1, ZEB2, EHMT1 Specificity 5 % Genes 50 %
Hereditary Spastic Paraplegia Exome Panel. By Genetic Services Laboratory University of Chicago in United States. C12orf65, HSPD1, ALDH18A1, REEP1, SPG7, ABCD1, FARS2, GJC2, PLP1, SLC2A1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2 , (...) View the complete list with 36 more genes Panel GTR000553520 complete gene list C12orf65, HSPD1, ALDH18A1, REEP1, SPG7, ABCD1, FARS2, GJC2, PLP1, SLC2A1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, VAMP1, ATP13A2, KDM5C, SLC16A2, EXOSC3, ERLIN1, KIDINS220, CAPN1, MAG, CPT1C, ENTPD1, NT5C2, KIF1C, C19orf12, B4GALNT1, GBA2, DDHD2, TECPR2, DDHD1, ERLIN2, AP4S1, AP4B1, AP4E1, AP4M1, IBA57, ARL6IP1 Specificity 2 % Genes 50 %
SLC2A1 deletion/duplication analysis. By Genetic Services Laboratory University of Chicago in United States. SLC2A1 Specificity 100 % Genes 50 %
Early Infantile Epileptic Encephalopathy Panel. By Genetic Services Laboratory University of Chicago in United States. POLG, STXBP1, SLC25A22, ETHE1, WWOX, ARX, CDKL5, PCDH19, SLC2A1, SYNGAP1, SCN1A, EFHC1, GABRB3, ST3GAL5, SCN2A, GRIN2B, HCN1, KCNT1, KCNQ2, CHD2 , (...) View the complete list with 25 more genes Panel GTR000500153 complete gene list POLG, STXBP1, SLC25A22, ETHE1, WWOX, ARX, CDKL5, PCDH19, SLC2A1, SYNGAP1, SCN1A, EFHC1, GABRB3, ST3GAL5, SCN2A, GRIN2B, HCN1, KCNT1, KCNQ2, CHD2, GABRA1, GRIN2A, ALG13, TBC1D24, BRAT1, ARFGEF2, CACNA2D2, EEF1A2, KCNA2, DNM1, KCNB1, SLC13A5, DOCK7, SZT2, GNAO1, ST3GAL3, SCN8A, PLCB1, SPTAN1, PNKP, ARHGEF9, CASK, CLCN4, NECAP1, KCNH5 Specificity 3 % Genes 50 %
Rett/Angelman Syndrome Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. UBE3A, ADSL, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, FOLR1, MBD5, WDR45, NRXN1, DYRK1A, PNKP, TCF4, CNTNAP2, ATRX, OPHN1 , (...) View the complete list with 3 more genes Panel GTR000501110 complete gene list UBE3A, ADSL, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, FOLR1, MBD5, WDR45, NRXN1, DYRK1A, PNKP, TCF4, CNTNAP2, ATRX, OPHN1, ZEB2, EHMT1, TRAPPC9 Specificity 5 % Genes 50 %
Microcephaly Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...) View the complete list with 50 more genes Panel GTR000507771 complete gene list UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL, SPATA5, DYRK1A, PNKP, TCF4, KIF1BP, ATRX, CASK, ZEB2, CTNNB1, TSEN34, TSEN2, CEP152, CDK5RAP2, PCNT, ATR, CENPF, RAB3GAP2, STAMBP, KIF11, EFTUD2, RAB18, IER3IP1, RBBP8, NHEJ1, LIG4, TRMT10A, TBC1D20, KATNB1, MED17, SASS6, MFSD2A, CENPE, PHC1, CDK6, ZNF335, CEP135, KNL1, CEP63, TRAPPC9, ORC1, CDC6, CDT1, ORC6, ORC4, PLK4, CRIPT, PYCR2, TUBGCP4, ASXL3, TUBGCP6 Specificity 2 % Genes 50 %
Microcephaly Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...) View the complete list with 59 more genes Panel GTR000558956 complete gene list UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL, SPATA5, DYRK1A, PNKP, TCF4, KIF1BP, ATRX, CASK, ZEB2, DIAPH1, CTNNB1, EIF2S3, TSEN34, TSEN2, CEP152, CDK5RAP2, PCNT, ATR, CENPF, SOX11, RAB3GAP2, STAMBP, KIF11, EFTUD2, RAB18, IER3IP1, RBBP8, NHEJ1, LIG4, TRMT10A, TBC1D20, KATNB1, MED17, CIT, AGMO, SASS6, MFSD2A, CENPE, PHC1, CDK6, ZNF335, CEP135, KNL1, CEP63, TRAPPC9, NIN, ORC1, CDC6, CDT1, ORC6, ORC4, PLK4, CRIPT, PYCR2, TUBGCP4, ASXL3, TUBGCP6, USP18, PPP1R15B, SLC1A4 Specificity 2 % Genes 50 %
Dystonia Exome Panel. By Genetic Services Laboratory University of Chicago in United States. AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...) View the complete list with 150 more genes Panel GTR000553219 complete gene list AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2, GAMT, SPR, STXBP1, SUCLA2, COQ8A, HTRA2, CTSD, GRN, PARK7, PINK1, SQSTM1, PDHA1, TIMM8A, MMADHC, HEXA, GM2A, SUOX, PTS, QDPR, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, SDHAF1, NDUFS1, NDUFV1, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, DLAT, L2HGDH, CBS, GCDH, LRPPRC, CYP27A1, PRKN, APTX, TPP1, CLN3, PNKD, TACO1, SLC6A8, PDHX, SDHA, ARSA, ARX, FOXG1, NPC1, NPC2, PLP1, SLC2A1, ATM, CLN6, CLN8, PPT1, TH, MLC1, CLN5, PLA2G6, TOR1A, THAP1, GCH1, SGCE, BSCL2, FA2H, ALS2, ATP1A2, ATP1A3, SLC19A3, SYNJ1, TBC1D24, PRRT2, COL4A1, CTSF, DNAJC5, MFSD8, ATP13A2, GNAO1, WDR45, SCN8A, PNKP, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, VPS13A, FUCA1, TAF1, SLC16A2, AARS, NKX2-1, TOR1AIP1, HACE1, IFIH1, C19orf12, TUBB4A, ADAR, FTL, CP, COASY, DCAF17, COX10, CSF1R, TPK1, SLC20A2, FBXO7, EARS2, DDC, SLC6A3, VPS35, XK, TPI1, PRKRA, DNAJC12, MICU1, HEPACAM, COX20, PDGFRB, PDGFB, SERAC1, CLPB, MDH2, KMT2B, MECR, TBCD, UBA5, VAC14, SLC39A14, DNAJC6, GNB1, HIVEP2, ANO3, XPR1, HPCA, KCTD17, LIPT1, ECHS1, BCAP31, GNAL, ADCY5, SLC30A10, ACY1, NUP62 Specificity 2 % Genes 100 %
Ataxia Exome Panel. By Genetic Services Laboratory University of Chicago in United States. FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...) View the complete list with 460 more genes Panel GTR000553853 complete gene list FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG, PAX6, PSEN1, INPP5E, AMACR, HSD17B4, CPS1, OPA1, WFS1, PSAP, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290, DLD, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, RRM2B, NDUFAF2, KIF1B, PANK2, OPA3, MECP2, COQ9, PDSS2, PDSS1, COQ6, ACO2, NDUFA12, HARS, NDUFB3, NDUFA9, COX14, ALDH18A1, PDHB, TMEM70, NDUFAF1, TTC19, MTPAP, NDUFA10, NUBPL, GPI, GAMT, SPR, STXBP1, COQ8A, RFT1, TUBA1A, RARS2, DARS2, TSFM, REEP1, DNAJC19, CTSD, MPDU1, FLVCR1, DPM1, GRN, COQ2, SPG7, ALG6, TYMP, ETHE1, SQSTM1, OTC, PDHA1, ABCB7, SLC9A6, ABCD1, MMADHC, TCN2, HEXA, SUOX, ALDH5A1, HEXB, PHYH, PTS, MPV17, CTSA, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, HIBCH, DBT, SUCLG1, DLAT, GALC, L2HGDH, GBE1, FXN, LRPPRC, FASTKD2, COX6B1, ASS1, CYP27A1, PMM2, MKS1, APTX, ASL, TPP1, WWOX, PNKD, SOD1, TACO1, FARS2, MTFMT, SDHA, PNP, ARSA, CDKL5, EIF2B1, FOXG1, GJC2, NPC1, NPC2, PCDH19, PLP1, SLC2A1, TINF2, WDR62, ATM, MRE11, NF2, SDHD, PRF1, CLN6, CLN8, FKTN, PEX2, PPT1, PEX7, SACS, TH, MLC1, PEX1, POMGNT1, SLC17A5, SUMF1, TTPA, CLN5, EIF2B5, PLA2G6, TMEM216, PRX, SH3TC2, MPZ, PMP22, EGR2, DNM2, GJB1, ATL1, ZFYVE26, EIF2B3, EIF2B2, EIF2B4, SPG11, CSTB, SCN1A, AHI1, FKRP, CACNA1A, GCH1, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, SETX, DYNC1H1, VRK1, SYNE1, TRAPPC11, POMT2, POMT1, ISPD, KCNA1, CACNB4, SLC1A3, SYT14, ANO10, TDP1, SIL1, GRM1, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2, POMGNT2, LARGE1, ATP1A2, ATP1A3, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SLC19A3, SCN2A, SLC6A1, FOLR1, HCN1, KCNQ2, KCNC1, EPM2A, LMNB2, MBD5, SCARB2, TBC1D24, PRRT2, BRAT1, DCX, RELN, TSEN54, ADGRG1, CTSF, DNAJC5, MFSD8, ATP13A2, KCNA2, SNAP25, SLC13A5, ROGDI, SCN8A, SPTAN1, PNKP, KCNJ10, TCF4, OFD1, OPHN1, CASK, CUL4B, GFAP, HTRA1, CLPP, ERCC3, POLR1C, DNMT1, SOX10, SLC19A2, PRPS1, AP1S2, KIAA0586, PEX16, PEX26, PEX10, MVK, NEU1, DKC1, SLC16A2, CLCN2, EXOSC3, TSEN34, TSEN2, NALCN, MME, LRSAM1, GAN, IFT140, CAV1, NKX2-1, FBXL4, GMPPB, PIEZO2, CHMP1A, ERCC6, ERLIN1, KIDINS220, CAPN1, HACE1, MAG, CPT1C, ENTPD1, NT5C2, KIF1C, C19orf12, UCHL1, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ERLIN2, AP4S1, AP4B1, AP4E1, AP4M1, CTDP1, PGK1, HNRNPH2, RNASET2, CTC1, GJA1, FTL, CP, ERCC4, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, EOMES, VLDLR, MARS2, COX10, SCO1, MT-TP, COG4, PRNP, SLC46A1, TPK1, SLC20A2, APOB, ERCC8, LIG4, GCLC, GSS, SLC39A4, ADA2, SLC25A46, PGM3, TCTN3, SAMD9L, KIAA0556, CEP104, CEP120, TMEM107, PDE6D, CSPP1, HERC1, HEPACAM, DNAJC3, LRP4, TUBB, IBA57, ARL6IP1, CCDC88C, CA8, ZIC1, XRCC4, SEPSECS, TBCE, COX20, MECR, UBA5, NUP62, AAAS, NAXE, RARS, ATP8A2, ATP2B3, CTBP1, CACNA1G, CAMTA1, BEAN1, ATCAY, DOCK3, COL18A1, EBF3, SLC52A2, LAMA1, GRID2, NOL3, PIK3R5, PCNA, DMXL2, PTRH2, ELOVL5, RTN4IP1, RNASEH1, RNF216, SCYL1, ERCC5, RNF168, SLC6A19, TELO2, TRPC3, TDP2, VARS, ZIC4, NAT8L, OTUD4, PUM1, STUB1, ARV1, DGAT2, FGF12, ITM2B, LMNB1, YME1L1, MAPK10, SLC9A1, SLC52A3, COQ4, RUBCN, PMPCA, UROC1, TRNT1, XPA, ZNF592, COA5, WDR81, POLR3A, POLR3B, RNF170, PET100, PRDM8, CHCHD10, APOPT1, SNX14, TMEM240, WDR73, CWF19L1, VWA3B, THG1L, CHAMP1, PIGG Specificity 1 % Genes 100 %
Epilepsy Panel - Comprehensive. By Molecular Genetics Laboratory London Health Sciences Centre in Canada. UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, GLDC, AMT, SLC9A6, SUOX, ALDH7A1, MOCS1, SLC6A8, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1 , (...) View the complete list with 49 more genes Panel GTR000530238 complete gene list UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, GLDC, AMT, SLC9A6, SUOX, ALDH7A1, MOCS1, SLC6A8, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, SYNGAP1, TSC1, PHGDH, CSTB, SCN1A, KCNJ11, KCNJ2, ATP1A2, ATP1A3, GOSR2, NHLRC1, KCTD7, PRICKLE2, SCN9A, SCN1B, SCN2A, FOLR1, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHD2, EPM2A, GRIN2A, LMNB2, MBD5, SCARB2, ASAH1, TBC1D24, PRRT2, DNM1, DOCK7, SCN8A, NRXN1, PLCB1, SPTAN1, PNKP, TCF4, CNTNAP2, ZEB2, NEU1, NECAP1, PSPH, CERS1, PSAT1 Specificity 3 % Genes 100 %
Comprehensive Epilepsy Panel. By GeneDx in United States. UBE3A, ADSL, POLG, MECP2, LIAS, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19 , (...) View the complete list with 50 more genes Panel GTR000520979 complete gene list UBE3A, ADSL, POLG, MECP2, LIAS, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, TSC1, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A, CACNB4, ATP1A2, CHRNB2, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, SCN1B, SCN2A, FOLR1, GRIN2B, KCNQ2, KCNQ3, PNPO, CHRNA2, CHRNA4, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, TBC1D24, PRRT2, SRPX2, DNAJC5, MFSD8, MAGI2, KANSL1, SCN8A, NRXN1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, SYN1, ATP6AP2, ZEB2 Specificity 3 % Genes 100 %
STAT Epilepsy Panel. By GeneDx in United States. POLG, MECP2, STXBP1, ALDH7A1, ARX, CDKL5, MEF2C, PCDH19, SLC2A1, SCN1A, SCN1B, SCN2A, FOLR1, KCNQ2, KCNQ3, PNPO, SCN8A, SPTAN1 Specificity 6 % Genes 50 %
Infantile Epilepsy Panel. By GeneDx in United States. UBE3A, ADSL, POLG, MECP2, LIAS, GAMT, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1 , (...) View the complete list with 33 more genes Panel GTR000520995 complete gene list UBE3A, ADSL, POLG, MECP2, LIAS, GAMT, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, TSC1, CLN6, CLN8, PPT1, CLN5, SCN1A, KCTD7, SCN1B, SCN2A, FOLR1, GRIN2B, KCNQ2, KCNQ3, PNPO, GABRA1, GABRG2, GRIN2A, MBD5, TBC1D24, PRRT2, MFSD8, MAGI2, KANSL1, SCN8A, NRXN1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, ATP6AP2, ZEB2 Specificity 4 % Genes 100 %
Childhood-Onset Epilepsy Panel. By GeneDx in United States. UBE3A, ADSL, POLG, MECP2, GAMT, GATM, CTSD, SLC9A6, TPP1, CLN3, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1, CLN6, CLN8, PPT1, CLN5 , (...) View the complete list with 30 more genes Panel GTR000520996 complete gene list UBE3A, ADSL, POLG, MECP2, GAMT, GATM, CTSD, SLC9A6, TPP1, CLN3, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A, CACNB4, CHRNB2, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, SCN1B, SCN2A, FOLR1, CHRNA2, CHRNA4, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, TBC1D24, MFSD8, MAGI2, KANSL1, NRXN1, PNKP, TCF4, CNTNAP2, SYN1, ZEB2 Specificity 2 % Genes 50 %
Autism/Intellectual Disability/Multiple Anomalies. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. FMR1, UBE3A, PTEN, HPRT1, NHS, MKKS, RAF1, MECP2, TUBA1A, SLC9A6, FGFR3, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, HRAS , (...) View the complete list with 69 more genes Panel GTR000327662 complete gene list FMR1, UBE3A, PTEN, HPRT1, NHS, MKKS, RAF1, MECP2, TUBA1A, SLC9A6, FGFR3, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, HRAS, KRAS, MAP2K1, MEF2C, NRAS, PCDH19, PTPN11, RAI1, SHOC2, SLC2A1, SOS1, FGFR2, HDAC8, MAP2K2, TSC2, RAD21, CBL, SMC3, SMC1A, TSC1, NIPBL, NSD1, PTCH1, MET, SCN1A, NF1, FGFR1, L1CAM, ASPM, GABRB3, FOLR1, MBD5, DCX, PQBP1, RELN, PAFAH1B1, KMT2D, NRXN1, PNKP, TCF4, CNTNAP2, ATRX, FGD1, PHF6, KDM5C, OPHN1, CASK, RAB39B, ZEB2, VPS13B, SHANK3, SHANK2, MID1, MED12, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, HOXA1, NLGN4X, NLGN3, RPS6KA3, SPRED1, ERCC6, SLC6A4, BDNF, AVPR1A, RPGRIP1L, ERCC8 Specificity 2 % Genes 50 %
CustomNext: Neuro. By Ambry Genetics in United States. FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...) View the complete list with 176 more genes Panel GTR000560527 complete gene list FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A, MAOA, ACSL4, SLC9A6, ABCD1, ALDH7A1, NDUFA1, TPP1, CLN3, SLC6A8, ARX, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, IDS, MEF2C, PCDH19, PLP1, PORCN, PTPN11, RAI1, SLC2A1, HDAC8, TSC2, RAD21, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, GPC3, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A, CACNA1A, L1CAM, KIF1A, DYNC1H1, ATP1A2, CHRNB2, CRH, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, SCN1B, SCN2A, STX1B, SLC35A2, SLC6A1, FOLR1, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, ALG13, TBC1D24, DEPDC5, PRRT2, DCX, PQBP1, FLNA, CTSF, DNAJC5, MFSD8, ATP13A2, HNRNPU, TBL1XR1, EEF1A2, KCNA2, DNM1, SIK1, SNAP25, PURA, SLC13A5, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, ANKRD11, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, CASK, CUL4B, RAB39B, ZEB2, VPS13B, SHANK3, PTCHD1, ADNP, MID1, MED12, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TBR1, ARID1B, NLGN4X, NLGN3, PHF8, HUWE1, LAMP2, DLG3, UBE2A, UPF3B, ZC4H2, GDI1, FTSJ1, RPS6KA3, RPL10, BRWD3, SLC16A2, NSUN2, SMARCA4, SMARCB1, SMARCA2, AP4B1, SATB2, KATNAL2, PACS1, CTCF, MED23, LINS1, TRAPPC9, MAN1B1, CC2D1A, CA8, POGZ, DDX3X, KAT6A Specificity 2 % Genes 100 %
Neurodevelopment-Expanded. By Ambry Genetics in United States. FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...) View the complete list with 176 more genes Panel GTR000560603 complete gene list FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A, MAOA, ACSL4, SLC9A6, ABCD1, ALDH7A1, NDUFA1, TPP1, CLN3, SLC6A8, ARX, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, IDS, MEF2C, PCDH19, PLP1, PORCN, PTPN11, RAI1, SLC2A1, HDAC8, TSC2, RAD21, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, GPC3, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A, CACNA1A, L1CAM, KIF1A, DYNC1H1, ATP1A2, CHRNB2, CRH, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, SCN1B, SCN2A, STX1B, SLC35A2, SLC6A1, FOLR1, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, ALG13, TBC1D24, DEPDC5, PRRT2, DCX, PQBP1, FLNA, CTSF, DNAJC5, MFSD8, ATP13A2, HNRNPU, TBL1XR1, EEF1A2, KCNA2, DNM1, SIK1, SNAP25, PURA, SLC13A5, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, ANKRD11, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, CASK, CUL4B, RAB39B, ZEB2, VPS13B, SHANK3, PTCHD1, ADNP, MID1, MED12, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TBR1, ARID1B, NLGN4X, NLGN3, PHF8, HUWE1, LAMP2, DLG3, UBE2A, UPF3B, ZC4H2, GDI1, FTSJ1, RPS6KA3, RPL10, BRWD3, SLC16A2, NSUN2, SMARCA4, SMARCB1, SMARCA2, AP4B1, SATB2, KATNAL2, PACS1, CTCF, MED23, LINS1, TRAPPC9, MAN1B1, CC2D1A, CA8, POGZ, DDX3X, KAT6A Specificity 2 % Genes 100 %
EpilepsyNext. By Ambry Genetics in United States. UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, CTSD, SLC25A22, GRN, SLC9A6, ALDH7A1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2 , (...) View the complete list with 80 more genes Panel GTR000560538 complete gene list UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, CTSD, SLC25A22, GRN, SLC9A6, ALDH7A1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, SYNGAP1, SMC1A, TSC1, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A, CACNA1A, DYNC1H1, ATP1A2, CHRNB2, CRH, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, SCN1B, SCN2A, STX1B, SLC35A2, SLC6A1, FOLR1, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, SCARB2, TBC1D24, DEPDC5, PRRT2, DCX, FLNA, CTSF, DNAJC5, MFSD8, ATP13A2, HNRNPU, TBL1XR1, EEF1A2, KCNA2, DNM1, SIK1, SNAP25, PURA, SLC13A5, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, IQSEC2, ARHGEF9, SYN1, CASK, ZEB2 Specificity 2 % Genes 100 %
EpiRapid. By Ambry Genetics in United States. POLG, MECP2, STXBP1, ALDH7A1, PCDH19, SLC2A1, TSC2, TSC1, SCN1A, FOLR1, KCNT1, KCNQ2, KCNQ3, PNPO, PRRT2, SCN8A Specificity 13 % Genes 100 %
EpiRapid reflex EpilepsyNext. By Ambry Genetics in United States. UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, CTSD, SLC25A22, GRN, SLC9A6, ALDH7A1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2 , (...) View the complete list with 80 more genes Panel GTR000560540 complete gene list UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, CTSD, SLC25A22, GRN, SLC9A6, ALDH7A1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, SYNGAP1, SMC1A, TSC1, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A, CACNA1A, DYNC1H1, ATP1A2, CHRNB2, CRH, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, SCN1B, SCN2A, STX1B, SLC35A2, SLC6A1, FOLR1, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, SCARB2, TBC1D24, DEPDC5, PRRT2, DCX, FLNA, CTSF, DNAJC5, MFSD8, ATP13A2, HNRNPU, TBL1XR1, EEF1A2, KCNA2, DNM1, SIK1, SNAP25, PURA, SLC13A5, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, IQSEC2, ARHGEF9, SYN1, CASK, ZEB2 Specificity 2 % Genes 100 %
IDNext. By Ambry Genetics in United States. FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, MECP2, GAMT, GATM, TUSC3, SLC25A22, OTC, PDHA1, TIMM8A, MAOA, ACSL4, SLC9A6, ABCD1 , (...) View the complete list with 120 more genes Panel GTR000560575 complete gene list FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, MECP2, GAMT, GATM, TUSC3, SLC25A22, OTC, PDHA1, TIMM8A, MAOA, ACSL4, SLC9A6, ABCD1, NDUFA1, SLC6A8, ARX, CDKL5, CHD7, CREBBP, FOXG1, IDS, MEF2C, PCDH19, PLP1, PORCN, PTPN11, RAI1, SLC2A1, HDAC8, RAD21, SYNGAP1, SMC3, SMC1A, NIPBL, NSD1, GPC3, PPT1, CACNA1A, L1CAM, KIF1A, DYNC1H1, SCN2A, STX1B, FOLR1, GRIN2B, HCN1, PNPO, CHD2, GRIN2A, MBD5, ALG13, DEPDC5, DCX, PQBP1, FLNA, HNRNPU, DNM1, PURA, NEXMIF, GNAO1, WDR45, ST3GAL3, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, ANKRD11, PNKP, KCNJ10, TCF4, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, CASK, CUL4B, RAB39B, ZEB2, VPS13B, PTCHD1, ADNP, MID1, MED12, FOXP2, FOXP1, EHMT1, AP1S2, CHD8, HOXA1, TBR1, ARID1B, NLGN4X, NLGN3, PHF8, HUWE1, LAMP2, DLG3, UBE2A, UPF3B, ZC4H2, GDI1, FTSJ1, RPS6KA3, RPL10, BRWD3, SLC16A2, NSUN2, SMARCA4, SMARCB1, SMARCA2, AP4B1, SATB2, PACS1, CTCF, MED23, LINS1, TRAPPC9, MAN1B1, CC2D1A, CA8, DDX3X, KAT6A Specificity 1 % Genes 50 %
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes). By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. MTHFR, ARG1, HLCS, BCKDHA, BCKDHB, ADSL, MMACHC, MTR, MTRR, CPS1, HPRT1, DLD, COQ9, PDSS2, PDSS1, GAMT, GATM, SPR, COQ8A, COQ2 , (...) View the complete list with 40 more genes Panel GTR000500614 complete gene list MTHFR, ARG1, HLCS, BCKDHA, BCKDHB, ADSL, MMACHC, MTR, MTRR, CPS1, HPRT1, DLD, COQ9, PDSS2, PDSS1, GAMT, GATM, SPR, COQ8A, COQ2, PCCB, PCCA, OTC, ABCD1, MMADHC, LMBRD1, ALDH7A1, PTS, QDPR, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, MMAB, MMAA, MUT, DBT, MAN2B1, MLYCD, IVD, CBS, GCDH, ASS1, CYP27A1, APTX, ASL, PNP, ARSA, IDS, IDUA, NPC1, NPC2, SLC2A1, GCH1, PNPO, DDC, PCBD1, SLC6A19 Specificity 2 % Genes 50 %
SLC2A1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SLC2A1 Specificity 100 % Genes 50 %
SLC2A1. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SLC2A1 Specificity 100 % Genes 50 %
SLC2A1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SLC2A1 Specificity 100 % Genes 50 %
SCN1A, ARX, CDKL5, SLC2A1, STXBP1, SCN2A, KCNQ2, CHRNA4, CHRNB2, CHRNA2, PCDH19, KCNQ3. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. STXBP1, ARX, CDKL5, PCDH19, SLC2A1, SCN1A, CHRNB2, SCN2A, KCNQ2, KCNQ3, CHRNA2, CHRNA4 Specificity 9 % Genes 50 %
SLC2A1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SLC2A1 Specificity 100 % Genes 50 %
Glucose Transporter Type 1 Deficiency Syndrome - SLC2A1 Sequence and Del/Dup Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SLC2A1 Specificity 100 % Genes 50 %
Glucose Transporter Type 1 Deficiency Syndrome - SLC2A1 Sequence Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SLC2A1 Specificity 100 % Genes 50 %
Glucose Transporter Type 1 Deficiency Syndrome - SLC2A1 Deletion/Duplication Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SLC2A1 Specificity 100 % Genes 50 %
Glucose Transporter Type 1 Deficiency Syndrome - SLC2A1 Known Point Mutation Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SLC2A1 Specificity 100 % Genes 50 %
Rapid Epilepsy Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. POLG, GAMT, GATM, ALDH7A1, SLC6A8, SLC2A1, CSTB, SCN1A, NHLRC1, SCN2A, GRIN2B, KCNQ2, PNPO, EPM2A, GRIN2A, KCNB1, SCN8A Specificity 6 % Genes 50 %
Rapid Epilepsy Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. POLG, GAMT, GATM, ALDH7A1, SLC6A8, SLC2A1, CSTB, SCN1A, NHLRC1, SCN2A, GRIN2B, KCNQ2, PNPO, EPM2A, GRIN2A, KCNB1, SCN8A Specificity 6 % Genes 50 %
Angelman/Rett Seq. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, FOLR1, MBD5, DYRK1A, PNKP, TCF4, ATRX, OPHN1, ZEB2, EHMT1 Specificity 6 % Genes 50 %
CHOP Epilepsy Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, CTSD, SLC25A22, ALDH7A1, TPP1, CLN3, WWOX, SLC6A8, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1 , (...) View the complete list with 69 more genes Panel GTR000553482 complete gene list UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, CTSD, SLC25A22, ALDH7A1, TPP1, CLN3, WWOX, SLC6A8, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, SYNGAP1, TSC1, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A, CACNA1A, DYNC1H1, KCNA1, LGI1, GABRB3, NHLRC1, KCTD7, PRICKLE1, SCN1B, SCN2A, STX1B, SLC35A2, SLC6A1, FOLR1, GRIN2B, KCNQ2, KCNQ3, PNPO, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, SCARB2, ALG13, ASAH1, TBC1D24, DEPDC5, PRRT2, PIGO, QARS, RELN, MFSD8, HNRNPU, EEF1A2, KCNA2, DNM1, PURA, KCNB1, SLC13A5, SZT2, GNAO1, WDR45, ST3GAL3, SCN8A, PIGA, GRIN1, PLCB1, SPTAN1, PNKP, KCNJ10, IQSEC2, ARHGEF9, SYN1, CASK, ZEB2, CNKSR2, HDAC4, SLC12A5, PIGT Specificity 3 % Genes 100 %
Angelman/ Rett Seq + Del/Dup. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, FOLR1, MBD5, DYRK1A, PNKP, TCF4, ATRX, OPHN1, ZEB2, EHMT1 Specificity 6 % Genes 50 %
Rapid Epilepsy Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. POLG, GAMT, GATM, ALDH7A1, SLC6A8, SLC2A1, CSTB, SCN1A, NHLRC1, SCN2A, GRIN2B, KCNQ2, PNPO, EPM2A, GRIN2A, KCNB1, SCN8A Specificity 6 % Genes 50 %
GLUT1 deficiency syndrome 1 (sequence analysis of SLC2A1 gene). By CGC Genetics in Portugal. SLC2A1 Specificity 100 % Genes 50 %
Glucose Transporter Type 1 Deficiency Syndrome (deletion/duplication analysis of SLC2A1 gene). By CGC Genetics in Portugal. SLC2A1 Specificity 100 % Genes 50 %
Epileptic encephalopathy (NGS panel for 67 genes). By CGC Genetics in Portugal. MTHFR, UBE3A, ADSL, CPT2, MECP2, GAMT, STXBP1, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH7A1, WWOX, ARX, CDKL5, FOXG1, PCDH19, SLC2A1, SYNGAP1 , (...) View the complete list with 47 more genes Panel GTR000525274 complete gene list MTHFR, UBE3A, ADSL, CPT2, MECP2, GAMT, STXBP1, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH7A1, WWOX, ARX, CDKL5, FOXG1, PCDH19, SLC2A1, SYNGAP1, SCN1A, SCN9A, SLC19A3, SCN1B, SCN2A, FOLR1, GRIN2B, HCN1, KCNT1, KCNQ2, PNPO, CHD2, GABRA1, GABRG2, GRIN2A, MBD5, TBC1D24, PRRT2, MAGI2, DNM1, KCNB1, SLC13A5, DOCK7, SZT2, GNAO1, ST3GAL3, ROGDI, SCN8A, NRXN1, GRIN1, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, ARHGEF9, ZEB2, TREX1, TBCE, ACY1, MAPK10, SRGAP2 Specificity 3 % Genes 100 %
Dystonia (NGS panel for 43 genes). By CGC Genetics in Portugal. ATP7B, AUH, PANK2, SMPD1, MECP2, SPR, TIMM8A, HEXA, GCDH, PRKN, PNKD, ARSA, NPC1, NPC2, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1 , (...) View the complete list with 23 more genes Panel GTR000525798 complete gene list ATP7B, AUH, PANK2, SMPD1, MECP2, SPR, TIMM8A, HEXA, GCDH, PRKN, PNKD, ARSA, NPC1, NPC2, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, COL6A3, ATP1A3, KCNMA1, PRRT2, VPS13A, ACTB, TAF1, TUBB4A, FTL, DDC, MR1, DRD2, SLC6A3, PRKRA, ANO3, HPCA, KCTD17, BCAP31, GNAL, SLC30A10, CACNA1B Specificity 5 % Genes 100 %
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ADSL, POLG, MECP2, GAMT, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2 , (...) View the complete list with 62 more genes Panel GTR000522337 complete gene list ADSL, POLG, MECP2, GAMT, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, TSC1, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A, CHRNB2, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, STX1B, SLC35A2, FOLR1, HCN1, KCNT1, KCNQ2, KCNQ3, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, TBC1D24, DEPDC5, PRRT2, PIGO, BCKDK, ARFGEF2, RELN, CTSF, MFSD8, KCNA2, KCNB1, SLC13A5, SZT2, GNAO1, ST3GAL3, ROGDI, SCN8A, NRXN1, PLCB1, SPTAN1, PNKP, KCNJ10, CNTNAP2, ARHGEF9, ACY1, NPRL2, TNK2 Specificity 3 % Genes 100 %
GLUT1 Deficiency Syndrome via SLC2A1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SLC2A1 Specificity 100 % Genes 50 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. UBE3A, ADSL, TUBB3, POLG, MECP2, GAMT, STXBP1, TUBA1A, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, ARX, CDKL5, FOXG1, MEF2C , (...) View the complete list with 133 more genes Panel GTR000558846 complete gene list UBE3A, ADSL, TUBB3, POLG, MECP2, GAMT, STXBP1, TUBA1A, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, SYNGAP1, SMC1A, TSC1, CLN6, CLN8, PPT1, SLC17A5, CLN5, CSTB, SCN1A, CACNA1A, CACNB4, ATP1A2, ATP1A3, CACNA1H, CHRNB2, CPA6, CRH, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, STX1B, SLC35A2, SLC6A1, FOLR1, GABRB2, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, LMNB2, MBD5, KCNMA1, SCARB2, ALG13, TBC1D24, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK, ARFGEF2, DCX, QARS, RELN, TUBA8, SRPX2, TUBB2B, CTSF, MFSD8, HNRNPU, SPATA5, EEF1A2, KCNA2, DNM1, SNAP25, PURA, KCNB1, SLC13A5, DOCK7, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGV, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, IQSEC2, ARHGEF9, SYN1, ATP6AP2, CASK, ZEB2, GFAP, NECAP1, CLCN2, NEDD4L, MTOR, TUBB2A, AARS, SMARCA2, IER3IP1, TUBG1, GNB1, ACY1, PIGG, SCN10A, NPRL3, NPRL2, TNK2, NACC1, CAD, FRRS1L, GRIN2D, HCN2, RORB, SON, PLPBP, SLC1A2, KCNH1, CARS2 Specificity 2 % Genes 100 %
Dystonia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SPR, PNKD, SLC2A1, TH, TOR1A, THAP1, GCH1, SGCE, ATP1A3, PRRT2, TAF1, TUBB4A, PRKRA, ANO3, GNAL Specificity 14 % Genes 100 %
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MECP2, STXBP1, TUSC3, ACSL4, SLC9A6, SLC6A8, ARX, FOXG1, MEF2C, SLC2A1, SMC1A, SCN2A, GRIN2B, CHD2, MBD5, TBC1D24, DEAF1, PQBP1, SCN8A, GRIN1 , (...) View the complete list with 90 more genes Panel GTR000556365 complete gene list MECP2, STXBP1, TUSC3, ACSL4, SLC9A6, SLC6A8, ARX, FOXG1, MEF2C, SLC2A1, SMC1A, SCN2A, GRIN2B, CHD2, MBD5, TBC1D24, DEAF1, PQBP1, SCN8A, GRIN1, TCF4, CNTNAP2, ATRX, IQSEC2, FGD1, GRIA3, ARHGEF9, PAK3, KDM5C, OPHN1, CUL4B, RAB39B, SETBP1, SHANK3, PTCHD1, ADNP, KIRREL3, AP1S2, TBR1, ARID1B, CTNNB1, NLGN4X, HUWE1, AFF2, ZNF711, DLG3, TSPAN7, UBE2A, UPF3B, GDI1, FTSJ1, RPS6KA3, ZDHHC9, BRWD3, SLC16A2, NAA10, IL1RAPL1, CLCN4, MED25, ADGRG2, BDNF, VPS35, MPDZ, SETD5, NDST1, METTL23, WASHC4, FMN2, GATAD2B, MED23, CDH15, ZC3H14, TRAPPC9, PRSS12, MAN1B1, CRBN, CC2D1A, HIVEP2, SNX14, LAMC1, DDX3X, AFF3, MAGEA11, BCL11A, ZBTB11, USP44, UBA7, TET1, SYNRG, SUMF2, SPATA13, SLAIN1, SDK2, PIDD1, MAPK8, FBXO47, DMBT1, CAPS, ABI2, TRAPPC6B, TBC1D23, CIC, EXTL3, ELP2, MAP3K7, SIN3A, TRIO, MED13L, MYT1L, DCPS Specificity 1 % Genes 50 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...) View the complete list with 202 more genes Panel GTR000561534 complete gene list UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1, TPP1, CLN3, WWOX, PNKD, FARS2, SLC6A8, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, CBL, SYNGAP1, SMC1A, TSC1, CLN6, CLN8, PPT1, SLC35A3, CLN5, CSTB, SCN1A, CACNA1A, NF1, SGCE, CASR, KCNA1, CACNB4, ATP1A2, ATP1A3, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, KCNH2, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, STX1B, SLC35A2, SLC6A1, FOLR1, GABRB2, GABRD, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, LMNB2, MBD5, KCNMA1, SCARB2, SCN5A, ALG13, TBC1D24, PRIMA1, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK, COL4A1, QARS, RELN, FLNA, SRPX2, DNAJC5, MFSD8, RBFOX1, CACNA2D2, HNRNPU, SETD2, TBL1XR1, SPATA5, EEF1A2, KCNA2, DNM1, SNAP25, PURA, KCNB1, SLC13A5, DOCK7, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, ANKRD11, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, SERPINI1, ATRX, IQSEC2, ARHGEF9, SYN1, ATP6AP2, CASK, ZEB2, DIAPH1, EHMT1, ARID1B, ZDHHC9, CLCN4, NECAP1, NEDD4L, MTOR, NAGA, DNMT3A, SATB2, IER3IP1, TPK1, RANBP2, PACS1, NTRK2, C12orf57, KCNH5, MDH2, UBA5, HIVEP2, ARV1, FGF12, COQ4, PRDM8, PIGG, CERS1, DDX3X, GLRA1, SLC12A5, GPHN, NGLY1, NPRL3, NPRL2, CAD, FRRS1L, GRIN2D, HCN2, RORB, PLPBP, KCNH1, CARS2, CLTC, GAL, GABBR2, GABRB1, PIGQ, PPP2R1A, PIGP, RYR3, KCND2, YWHAG, FASN, AP3B2, JMJD1C, PIK3AP1, PPP3CA, ARHGEF15, SNX27, CNTN2, ITPA, NUS1, RAB11A, STRADA, KPNA7, GUF1, HECW2, RBFOX3, DENND5A Specificity 1 % Genes 100 %
Mental retardation - different panels. By Institute of Human Genetics Cologne University in Germany. FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...) View the complete list with 847 more genes Panel GTR000558415 complete gene list FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6, MTR, INPP5E, MTRR, PYCR1, CC2D2A, PRODH, ATP6V0A2, SRD5A3, HSD17B10, OCRL, ELOVL4, NDP, OTX2, HPRT1, NHS, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, SHH, DLD, NDUFS4, PANK2, RAF1, FH, SMPD1, MECP2, PDSS2, PDSS1, ACO2, NDUFA12, DDOST, ALDH18A1, DNM1L, ACSF3, CCDC28B, TAT, NUBPL, DPM3, PGM1, GAMT, GATM, AK1, SDHB, STXBP1, COQ8A, RFT1, MRPS22, TUBA1A, COG1, COG8, DARS2, TUSC3, HAX1, DNAJC19, CTSD, SLC25A22, MPDU1, DPM1, COG7, ALG9, ALG1, AP3B1, ALG8, ALG2, GRN, COQ2, ALG12, B4GALT1, GCSH, GLDC, AMT, SCO2, SLC35A1, GAD1, ALG6, MPI, ETHE1, STRA6, ALG3, D2HGDH, PUS1, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, MMADHC, ABHD5, SUOX, ALDH5A1, ALDH3A2, SLC35C1, ACOX1, CA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, GUSB, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFA1, NDUFA11, NDUFS1, NDUFV1, NDUFS2, NDUFAF5, MMAA, MUT, CYB5R3, DBT, MANBA, MAN2B1, MLYCD, SLC25A15, L2HGDH, CBS, GALT, GALE, LRPPRC, MGAT2, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, SOX2, TPP1, CLN3, HESX1, PPOX, WWOX, FARS2, SLC6A8, PDHX, SDHA, ABCD4, AGA, AHCY, DOLK, DPAGT1, MOGS, HPD, MGME1, PNP, FGFR3, ASPA, ARX, BLM, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, GJC2, HRAS, IDS, IDUA, IKBKG, KRAS, MAP2K1, MEF2C, DMPK, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, RMRP, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, SOS2, HDAC8, RIT1, MAP2K2, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, NBN, PTCH1, GPC3, SMAD4, CLN6, CLN8, FKTN, PPT1, PEX7, SLC35A3, TH, MCOLN1, PEX1, POMGNT1, SLC12A6, SLC17A5, CLN5, PHGDH, DPYD, TMEM216, FIG4, NTRK1, MT-TL1, ZFYVE26, MT-TK, MT-ATP6, SPG11, SCN1A, AHI1, FKRP, ATXN10, GCH1, NF1, FGFR1, KCNJ11, L1CAM, SLC33A1, BSCL2, WASHC5, KIF1A, SPART, CCDC78, DYNC1H1, VRK1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, ANO10, SIL1, GRM1, LAMA2, DPM2, POMGNT2, CHKB, LARGE1, B3GALNT2, MCPH1, ASPM, ATP1A2, ATP1A3, GABRB3, KCTD7, ST3GAL5, SCN2A, SLC35A2, SLC6A1, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, CHD2, GABRA1, GRIN2A, MBD5, ALG13, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, BRAT1, PIGO, COL4A1, ARFGEF2, CENPJ, DEAF1, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, STIL, TUBB2B, CTSF, DNAJC5, MFSD8, ATP13A2, KMT2D, CACNA2D2, SETD2, TBL1XR1, SPATA5, EEF1A2, KCNA2, DNM1, SIK1, PURA, KCNB1, SLC13A5, DOCK7, NR2F1, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, ATP2A2, SHANK3, SHANK2, SALL1, ACTB, ACTG1, ATP6V1B2, ERCC2, ERCC3, PNPT1, NLRP3, DIAPH1, SOX10, MT-TS1, PRPS1, PEX6, NARS2, FUCA1, PTCHD1, ADNP, MID1, MED12, LAMC3, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TBR1, TMEM231, ARID1B, CTNNB1, NLGN4X, NLGN3, LZTR1, KIAA0586, PEX13, PEX26, PEX10, PEX12, PEX5, KAT6B, MVK, NEU1, CCBE1, PHF8, HUWE1, HCFC1, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, USP9X, ZC4H2, GDI1, FTSJ1, RPS6KA3, SHROOM4, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, LAS1L, EIF2S3, FRMPD4, CLCN4, CCDC22, CNKSR2, THOC2, SPRED1, NSUN2, RASA2, RRAS, NECAP1, MTOR, EXOSC3, TUBB2A, TGIF1, ZIC2, NALCN, CEP152, CDON, GLI2, CDK5RAP2, PCNT, ATR, NAGA, DYM, TGFBR1, TGFBR2, SKI, ACVR1, DNMT3A, NFIX, EZH2, GLI3, ABCC9, MAGEL2, KDM6A, DHTKD1, AARS, MED25, POC1B, MAF, SLC4A4, NKX2-1, EMC1, FBXL4, POMK, GMPPB, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, ERCC6, ARID2, SMARCE1, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, HACE1, MAG, IFIH1, PGAP1, ENTPD1, NT5C2, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, STAMBP, KIF11, CTDP1, PGK1, MT-CO2, MT-ND5, MT-CO1, MT-CO3, DPP6, THRB, EP300, RNASET2, EFTUD2, ASXL1, GNPAT, GNAS, WNT1, FANCD2, SOX5, SATB2, KATNAL2, AUTS2, MASP1, ERCC4, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, PIK3CA, RAB18, IER3IP1, RBBP8, MYCN, VLDLR, COX10, MT-TV, COG4, ALG11, COG6, COG5, TMEM165, MAT1A, EARS2, DDC, SLC6A3, EIF2AK3, DHCR24, MYO5A, RAB27A, STIM1, RARB, B3GLCT, PIK3R2, AKT3, ERCC8, LIG4, TPI1, GSS, PRKRA, EPG5, PIK3R1, PACS1, PGM3, TCTN3, MICU1, UBR1, OCLN, KCNJ6, AGPAT2, IFT172, PRMT7, AFF4, SRCAP, KIAA0556, CEP104, PDE6D, CSPP1, KPTN, RNF125, TBC1D7, HEPACAM, TRMT10A, ZBTB20, ZNF423, CEP83, TBC1D20, RTTN, ESCO2, DNMT3B, FRAS1, CDK5, KATNB1, TUBG1, KIF5C, KIF2A, ASNS, SNAP29, PDE4D, PTDSS1, CCDC88C, MPDZ, LAMB1, SLC25A1, MED17, MFSD2A, CENPE, CDK6, CEP135, CEP63, ZMYND11, TTI2, TAF2, SLC6A17, SETD5, NDST1, MID2, METTL23, KIF4A, FMN2, FBXO31, CRADD, ADAT3, GATAD2B, CTCF, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15, ZNF526, ZC3H14, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, CA8, DPH1, MEGF8, TCF12, ORC1, GMNN, PLK4, LARP7, POC1A, PYCR2, TUBGCP4, ASXL3, TUBGCP6, TBCE, PPP1R15B, SLC1A4, SERAC1, CLPB, KMT2B, BCAP31, ACY1, CACNA1G, COL18A1, LAMA1, PTRH2, SCYL1, ERCC5, COQ4, PMPCA, XPA, WDR81, POLR3A, POLR3B, PET100, APOPT1, SNX14, WDR73, CHAMP1, PIGG, ZSWIM6, BUB1B, AP1S1, MPLKIP, GTF2H5, CA5A, PEPD, FAM126A, DHFR, COL4A2, PEX11B, POGZ, DDX3X, KAT6A, IGF1, COLEC11, HDAC4, SLC12A5, PIGT, RBM28, GPHN, SSR4, UBE3B, AIMP1, STT3B, STT3A, TMCO1, ERCC1, FTO, CLP1, HMGB3, MAB21L2, SMOC1, RNF113A, MFF, FAR1, SC5D, UNC80, UPB1, NECTIN1, CAD, KCNH1, RLIM, KLHL15, USP27X, DARS, DDX59, KDM1A, JAM3, ISCA2, ELP2, TRIO, MED13L, MYT1L, DCPS, TRIP12, TCF20, GABBR2, PPP2R1A, FASN, SNX27, ITPA, RMND1, SFXN4, RSPRY1, GTF2E2, APC2, HNRNPK, HIST1H4B, GON4L, SLC39A6, SCAPER, ADRA2B, KRBOX4, CCNA2, KDM6B, MEIS2, PGAP3, PECR, CKAP2L, CASP2, FRMD4A, GEMIN4, INPP4A, ZCCHC8, HIKESHI, SLC25A16, RABL6, TMEM135, GPT2, ASCC3, HIST3H3, CNKSR1, WAC, KDM5A, ACBD6, CCDC88A, AHDC1, TM4SF20, HERC2, SETD1A, KCNK9, ZBTB40, RALGDS, IMPA1, TANGO2, GMPPA, PGAP2, TRMT1, SLC31A1, CAPN10, PARP1, UBR7, EEF1B2, DIP2B, WDR45B, CCDC115, ADK, COL4A3BP, RGS7, FRY, EXOSC2, PPP2R5D, PRMT9 Specificity 1 % Genes 100 %
Glucose Transporter Type 1 Deficiency Syndrome. By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada. SLC2A1 Specificity 100 % Genes 50 %
Glucose Transporter Type 1 Deficiency Syndrome. By MGZ Medical Genetics Center in Germany. SLC2A1 Specificity 100 % Genes 50 %
Neurogenetic Disorders - panels. By MGZ Medical Genetics Center in Germany. MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...) View the complete list with 577 more genes Panel GTR000552437 complete gene list MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, MMACHC, PRKCG, APP, PSEN1, TUBB3, SDHAF2, AMACR, HSD17B4, CPS1, CPT2, OPA1, TRMU, WFS1, PSAP, ELOVL4, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GARS, AFG3L2, FOXRED1, RRM2B, NDUFAF2, ALAS2, MFN2, SDHC, PANK2, OPA3, VCP, MECP2, MTO1, COQ9, PDSS2, PDSS1, COQ6, NDUFA12, NDUFB3, NDUFA9, COX14, AGK, ALDH18A1, DGUOK, BOLA3, PDHB, TMEM70, SARS2, NFU1, NDUFAF1, TTC19, MTPAP, NDUFA10, NUBPL, KARS, GFER, TMEM126A, SLC25A12, GAMT, SPR, COX4I2, SDHB, STXBP1, SUCLA2, COQ8A, MRPS22, RARS2, DARS2, SLC25A3, PNPLA2, TUFM, TSFM, MRPS16, REEP1, DNAJC19, POLG2, TK2, SLC25A22, GFM1, PDP1, ALG2, GRN, NDUFA13, COQ2, SPG7, PARK7, PCCB, PCCA, PINK1, GLDC, SCO2, GAD1, TYMP, ETHE1, SQSTM1, PUS1, OTC, PDHA1, TIMM8A, TAZ, ABCB7, AIFM1, ABCD1, ABHD5, HEXA, ALDH3A2, HEXB, PHYH, ALDH7A1, ACOX1, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, CHAT, MOCS2, MOCS1, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, HIBCH, DBT, SUCLG1, DLAT, GALC, IVD, SLC25A15, L2HGDH, GBE1, ETFB, ETFA, ETFDH, GCDH, FXN, LRPPRC, FASTKD2, COX6B1, ASS1, CYP27A1, SLC22A5, SLC25A20, PRKN, APTX, ASL, SLC25A38, TPP1, CLN3, KIF21A, WWOX, PNKD, TACO1, FARS2, HARS2, SLC6A8, MTFMT, PDHX, SDHA, DPAGT1, MGME1, ARSA, ASPA, ARX, GBA, CDKL5, EIF2B1, FOXG1, GJC2, MEF2C, NPC1, NPC2, PCDH19, PLP1, SLC2A1, SYNGAP1, ATM, MRE11, SDHD, CHRNE, CLN6, CLN8, DOK7, MTTP, PEX2, PPT1, PEX7, SACS, TH, MLC1, MCOLN1, PEX1, SLC17A5, SUMF1, TTPA, CLN5, EIF2B5, PHGDH, PLA2G6, RAPSN, GDAP1, DNM2, ATL1, ZFYVE26, EIF2B3, EIF2B2, EIF2B4, SPG11, CSTB, SCN1A, PSEN2, MAPT, APOE, NOTCH3, PPP2R2B, CACNA1A, TOR1A, THAP1, GCH1, LRRK2, SGCE, SNCA, CASR, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, RYR1, SETX, CHMP2B, TARDBP, UBQLN2, MTM1, BICD2, SYNE1, KCNA1, CACNB4, SLC1A3, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, ANO10, SIL1, GRM1, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2, LAMA2, DPM2, CHKB, COL6A3, ATP1A2, ATP1A3, CACNA1H, CHRNB2, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SLC19A3, SCN1B, SCN2A, SYNJ1, STX1B, FOLR1, GABRD, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, LMNB2, MBD5, KCNMA1, SCARB2, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, COL4A1, QARS, RELN, TSEN54, ATP13A2, HNRNPU, SPATA5, EEF1A2, SIK1, SNAP25, SLC13A5, DOCK7, WDR45, SCN8A, DYRK1A, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, RNASEH2A, RNASEH2C, RNASEH2B, ARHGEF9, KDM5C, TREX1, GFAP, VPS13A, CLPP, POLR1C, PNPT1, NLRP3, DNMT1, SOX10, SLC19A2, LARS2, PEX6, NARS2, FUCA1, CACNA1C, CHD8, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, NEU1, HCFC1, LAMP2, TAF1, SLC16A2, CLCN4, CLCN2, EXOSC3, TUBB2A, MARS, TFG, GAN, LYST, TBK1, NKX2-1, FBXL4, DNA2, HNRNPDL, TOR1AIP1, GMPPB, MYBPC1, ERLIN1, REEP2, MAG, CPT1C, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27, STAMBP, FDX2, ACTG2, RNASET2, CCT5, GJA1, NBAS, FTL, CP, COASY, DCAF17, MARS2, COX10, SCO1, CSF1R, PRNP, TPK1, FBXO7, EARS2, MR1, SLC6A3, HADH, APOB, ABCA1, EIF2AK3, VPS35, COQ8B, XK, RANBP2, PRKRA, EPG5, SLC25A46, MICU1, HEPACAM, DNAJC3, PREPL, LRP4, ALG14, IBA57, ARL6IP1, GRIK2, KCNH5, XRCC4, AMPD2, SEPSECS, PYCR2, SLC1A4, PDGFB, SERAC1, CLPB, UBA5, ANO3, HPCA, KCTD17, ECHS1, GNAL, ADCY5, SLC30A10, ACY1, AAAS, RARS, ATP8A2, CACNA1G, SLC52A2, GRID2, NOL3, PIK3R5, PTRH2, RNASEH1, RNF216, SLC6A19, STUB1, DGAT2, LMNB1, SLC52A3, COQ4, RUBCN, PMPCA, TRNT1, POLR3A, POLR3B, PRDM8, CHCHD10, APOPT1, SNX14, PSAT1, RETREG1, FAM126A, COL4A2, NOP56, GLRB, GLRA1, SLC6A5, CIZ1, PDE8B, GPHN, TALDO1, UQCRC2, AIMP1, CLP1, EXOSC8, CACNA1B, NPRL3, ATP5F1A, LARS, CAD, CARS2, ATP2B4, NDUFB9, ZFR, WDR48, USP8, ARSI, LYRM7, ISCA2, FLAD1, ARHGEF15, COX8A, GTPBP3, IARS2, COQ7, NDUFB11, MRPL44, MRPS7, PARS2, TRMT5, TARS2, VARS2, RMND1, TRIT1, LONP1, TANGO2, CCDC115, FLRT1, SLC25A42, KCNA4, SLC25A26, GTPBP2, PPT2, PODXL, STAT2, TXN2, VPS11, PTCD1, KLC4, PITRM1 Specificity 1 % Genes 100 %
Epileptic Encephalopathy. By MGZ Medical Genetics Center in Germany. UBE3A, AMACR, POLG, PANK2, MECP2, GAMT, STXBP1, SLC25A22, GLDC, HEXA, HEXB, ALDH7A1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, NPC1, NPC2 , (...) View the complete list with 69 more genes Panel GTR000521030 complete gene list UBE3A, AMACR, POLG, PANK2, MECP2, GAMT, STXBP1, SLC25A22, GLDC, HEXA, HEXB, ALDH7A1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, NPC1, NPC2, PCDH19, SLC2A1, SYNGAP1, CLN6, PPT1, CLN5, PHGDH, PLA2G6, CSTB, SCN1A, SGCE, FA2H, SYNE1, DPM2, EFHC1, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN1B, SCN2A, SYNJ1, STX1B, FOLR1, GABRD, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, ASAH1, TBC1D24, PRRT2, QARS, ATP13A2, HNRNPU, EEF1A2, DOCK7, WDR45, SCN8A, PLCB1, SPTAN1, PNKP, ARHGEF9, GFAP, NEU1, CLCN4, TUBB2A, HNRNPDL, C19orf12, FTL, CP, DCAF17, HADH, IBA57, KCNH5, GPHN, CLP1, ARHGEF15, PPT2 Specificity 3 % Genes 100 %
Epileptic Encephalopathy – Basic Diagnostics. By MGZ Medical Genetics Center in Germany. POLG, MECP2, GAMT, STXBP1, ALDH7A1, ARX, CDKL5, FOXG1, PCDH19, SLC2A1, SYNGAP1, PPT1, PHGDH, SCN1A, SCN2A, FOLR1, HCN1, KCNT1, KCNQ2, KCNC1 , (...) View the complete list with 2 more genes Panel GTR000521041 complete gene list POLG, MECP2, GAMT, STXBP1, ALDH7A1, ARX, CDKL5, FOXG1, PCDH19, SLC2A1, SYNGAP1, PPT1, PHGDH, SCN1A, SCN2A, FOLR1, HCN1, KCNT1, KCNQ2, KCNC1, PNPO, GABRA1 Specificity 5 % Genes 50 %
Ataxia. By MGZ Medical Genetics Center in Germany. ARG1, BCKDHA, BCKDHB, C12orf65, CPS1, POLG, TTC19, COQ8A, DARS2, OTC, PDHA1, ABCB7, DBT, IVD, SLC25A15, ASS1, APTX, ASL, TACO1, SLC2A1 , (...) View the complete list with 14 more genes Panel GTR000521053 complete gene list ARG1, BCKDHA, BCKDHB, C12orf65, CPS1, POLG, TTC19, COQ8A, DARS2, OTC, PDHA1, ABCB7, DBT, IVD, SLC25A15, ASS1, APTX, ASL, TACO1, SLC2A1, ATM, SACS, CACNA1A, SETX, KCNA1, CACNB4, SLC1A3, PRRT2, CACNA1C, SLC2A10, SLC52A2, SLC6A19, SLC52A3, KCNA4 Specificity 6 % Genes 100 %
Epilepsy and Mitochondrial Encephalopathy. By MGZ Medical Genetics Center in Germany. UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2, MTO1 , (...) View the complete list with 166 more genes Panel GTR000521058 complete gene list UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2, MTO1, PDSS2, PDSS1, NDUFA12, NDUFB3, NDUFA9, PDHB, TMEM70, SARS2, NFU1, TTC19, MTPAP, NUBPL, GFER, SLC25A12, GAMT, SDHB, STXBP1, SUCLA2, MRPS22, RARS2, SLC25A3, TUFM, TSFM, MRPS16, TK2, SLC25A22, GFM1, PDP1, SPG7, GLDC, SCO2, TYMP, ETHE1, PUS1, PDHA1, TIMM8A, TAZ, HEXA, HEXB, ALDH7A1, MPV17, NDUFA2, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, SDHAF1, NDUFAF3, NDUFA1, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, SUCLG1, ETFB, ETFA, ETFDH, LRPPRC, FASTKD2, SLC25A20, TPP1, CLN3, TACO1, FARS2, SLC6A8, MTFMT, PDHX, SDHA, DPAGT1, ARX, CDKL5, FOXG1, MEF2C, NPC1, NPC2, PCDH19, SLC2A1, SYNGAP1, SDHD, CLN6, PPT1, CLN5, PHGDH, CSTB, SCN1A, SGCE, SLC33A1, FA2H, SYNE1, DPM2, EFHC1, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SLC19A3, SCN1B, SCN2A, SYNJ1, FOLR1, GABRD, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, ASAH1, TBC1D24, PRRT2, QARS, HNRNPU, EEF1A2, DOCK7, WDR45, SCN8A, PLCB1, SPTAN1, PNKP, ARHGEF9, GFAP, PNPT1, SLC19A2, NEU1, CLCN4, TUBB2A, FBXL4, HNRNPDL, C19orf12, CP, DCAF17, MARS2, SCO1, TPK1, EARS2, HADH, EIF2AK3, MICU1, IBA57, KCNH5, SERAC1, GPHN, UQCRC2, CLP1, NDUFB9, LYRM7, FLAD1, ARHGEF15, TARS2, VARS2, RMND1, TRIT1, PPT2, PTCD1 Specificity 2 % Genes 100 %
Brain Malformations / Neuronal Migration Disorders. By MGZ Medical Genetics Center in Germany. FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...) View the complete list with 246 more genes Panel GTR000521067 complete gene list FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1, HGSNAT, SGSH, GALC, CYP27A1, TPP1, CLN3, FGFR3, ASPA, ARX, ELP1, CDKL5, CHD7, FOXG1, IDS, MEF2C, PCDH19, PORCN, SLC2A1, WDR62, HDAC8, TSC2, RAD21, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, PTCH1, CDKN1C, GPC3, CLN6, DOK7, PPT1, MLC1, CLN5, EIF2B5, PHGDH, PLA2G6, EIF2B3, CSTB, SCN1A, NOTCH3, SGCE, FGF8, CASR, L1CAM, FA2H, CACNB4, ASPM, CACNA1H, CHRNB2, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN1B, SCN2A, SYNJ1, GABRD, HCN1, KCNT1, KCNQ2, KCNQ3, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, ASAH1, TBC1D24, DEPDC5, PRRT2, COL4A1, ARFGEF2, CENPJ, DCX, QARS, NDE1, PQBP1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, ATP13A2, SETD2, EEF1A2, NEXMIF, WDR45, SCN8A, NRXN1, DYRK1A, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, ZEB2, TREX1, VPS13A, HTRA1, PTCHD1, MID1, MED12, EHMT1, AP1S2, CHD8, ARID1B, NLGN4X, NLGN3, NEU1, PHF8, IGBP1, HUWE1, HCFC1, AGTR2, AFF2, MBTPS2, MAGT1, ZNF711, ZNF41, FANCB, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, EIF2S3, ZMYM3, CLCN4, THOC2, EXOSC3, TUBB2A, CEP152, NODAL, FOXH1, CDON, GLI2, CDK5RAP2, NFIX, EZH2, RNF135, GLI3, GPSM2, KDM6A, HNRNPDL, MYBPC1, SMARCE1, SMARCA4, SMARCB1, ARID1A, SMARCA2, C19orf12, TUBB4A, ADAR, PGK1, FTL, CP, DCAF17, KIF7, EOMES, PIK3CA, DISP1, GNAQ, PIK3R2, AKT3, AKT1, XK, TDGF1, ADA2, OCLN, KPTN, TBC1D7, HEPACAM, CCND2, TUBG1, TUBB, KIF5C, KIF2A, ZNF674, KCNH5, SEPSECS, NOL3, STUB1, ITM2B, POLR3A, POLR3B, COL4A2, DIS3L2, CLP1, DARS, JAM3, ARHGEF15, HERC2, NXF5 Specificity 1 % Genes 100 %
Episodic Ataxia and Phenocopies. By MGZ Medical Genetics Center in Germany. ACADVL, ARG1, BCKDHA, BCKDHB, CPS1, CPT2, DARS2, PNPLA2, OTC, PDHA1, ABHD5, DBT, IVD, SLC25A15, ETFB, ETFA, ETFDH, ASS1, SLC22A5, ASL , (...) View the complete list with 9 more genes Panel GTR000521096 complete gene list ACADVL, ARG1, BCKDHA, BCKDHB, CPS1, CPT2, DARS2, PNPLA2, OTC, PDHA1, ABHD5, DBT, IVD, SLC25A15, ETFB, ETFA, ETFDH, ASS1, SLC22A5, ASL, SLC2A1, CACNA1A, KCNA1, CACNB4, SLC1A3, PRRT2, CACNA1C, SLC6A19, KCNA4 Specificity 7 % Genes 100 %
Familial Hemiplegic Migraine. By MGZ Medical Genetics Center in Germany. SLC2A1, SCN1A, CACNA1A, ATP1A2, ATP1A3 Specificity 20 % Genes 50 %
Epilepsy. By MGZ Medical Genetics Center in Germany. UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, AMACR, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2 , (...) View the complete list with 192 more genes Panel GTR000521111 complete gene list UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, AMACR, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2, MTO1, PDSS2, PDSS1, NDUFA12, NDUFB3, NDUFA9, PDHB, TMEM70, SARS2, NFU1, TTC19, MTPAP, NUBPL, GFER, SLC25A12, GAMT, SDHB, STXBP1, SUCLA2, MRPS22, RARS2, SLC25A3, TUFM, TSFM, MRPS16, TK2, SLC25A22, GFM1, PDP1, SPG7, GLDC, SCO2, TYMP, ETHE1, PUS1, PDHA1, TIMM8A, TAZ, HEXA, HEXB, ALDH7A1, MPV17, NDUFA2, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, SDHAF1, NDUFAF3, NDUFA1, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, SUCLG1, ETFB, ETFA, ETFDH, LRPPRC, FASTKD2, SLC25A20, TPP1, CLN3, TACO1, FARS2, SLC6A8, MTFMT, PDHX, SDHA, DPAGT1, ARX, CDKL5, FOXG1, MEF2C, NPC1, NPC2, PCDH19, PLP1, SLC2A1, SYNGAP1, SDHD, CLN6, PPT1, CLN5, PHGDH, PLA2G6, EIF2B3, CSTB, SCN1A, CACNA1A, SGCE, CASR, SLC33A1, FA2H, SYNE1, CACNB4, DPM2, ATP1A2, CACNA1H, CHRNB2, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SLC19A3, SCN1B, SCN2A, SYNJ1, STX1B, FOLR1, GABRD, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, ASAH1, TBC1D24, DEPDC5, PRRT2, QARS, ATP13A2, HNRNPU, EEF1A2, DOCK7, WDR45, SCN8A, DYRK1A, PLCB1, SPTAN1, PNKP, ARHGEF9, GFAP, PNPT1, SLC19A2, CHD8, NEU1, CLCN4, TUBB2A, FBXL4, HNRNPDL, GMPPB, MYBPC1, C19orf12, TUBB4A, FTL, CP, DCAF17, MARS2, SCO1, TPK1, EARS2, HADH, EIF2AK3, MICU1, IBA57, KCNH5, SERAC1, NOL3, POLR3A, POLR3B, FAM126A, GPHN, UQCRC2, CLP1, NDUFB9, LYRM7, FLAD1, ARHGEF15, TARS2, VARS2, RMND1, TRIT1, PPT2, PTCD1 Specificity 1 % Genes 100 %
Glucose transporter (GLUT1) defect (SLC2A1). By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands. SLC2A1 Specificity 100 % Genes 50 %
Epilepsy with paroxysmal disorders panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. SLC2A1, CACNA1A, ATP1A2, KCNMA1, PRRT2 Specificity 40 % Genes 100 %
Epileptic encephalopathy panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. UBE3A, MECP2, STXBP1, SLC25A22, ALDH7A1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, SYNGAP1, SCN1A, SCN9A, SLC19A3, SCN1B, SCN2A, GRIN2B, KCNT1, KCNQ2 , (...) View the complete list with 12 more genes Panel GTR000509402 complete gene list UBE3A, MECP2, STXBP1, SLC25A22, ALDH7A1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, SYNGAP1, SCN1A, SCN9A, SLC19A3, SCN1B, SCN2A, GRIN2B, KCNT1, KCNQ2, PNPO, GRIN2A, MAGI2, SCN8A, PLCB1, SPTAN1, PNKP, ARHGEF9, ZEB2, TBCE, MAPK10, SRGAP2 Specificity 4 % Genes 50 %
IGE/JME/CAE panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. ME2, SLC2A1, CASR, CACNB4, CACNA1H, EFHC1, GABRB3, GABRD, GABRA1, CLCN2, BRD2 Specificity 10 % Genes 50 %
Metabolic disease with epilepsy panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. MTHFR, ADSL, CPT2, GAMT, CTSD, GCSH, GLDC, AMT, ALDH7A1, TPP1, CLN3, SLC2A1, CLN6, CLN8, PPT1, CLN5, FOLR1, PNPO, DNAJC5, MFSD8 , (...) View the complete list with 4 more genes Panel GTR000509408 complete gene list MTHFR, ADSL, CPT2, GAMT, CTSD, GCSH, GLDC, AMT, ALDH7A1, TPP1, CLN3, SLC2A1, CLN6, CLN8, PPT1, CLN5, FOLR1, PNPO, DNAJC5, MFSD8, GLRB, GLRA1, GPHN, PPT2 Specificity 5 % Genes 50 %
DYT18 - dystonia 18. By Centogene AG - the Rare Disease Company in Germany. SLC2A1 Specificity 100 % Genes 50 %
Paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia. By Centogene AG - the Rare Disease Company in Germany. SLC2A1 Specificity 100 % Genes 50 %
Epilepsy, idiopathic generalized type 12. By Centogene AG - the Rare Disease Company in Germany. SLC2A1 Specificity 100 % Genes 50 %
GLUT1 deficiency syndrome type 1. By Centogene AG - the Rare Disease Company in Germany. SLC2A1 Specificity 100 % Genes 50 %
AllNeuro panel. By Centogene AG - the Rare Disease Company in Germany. F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...) View the complete list with 1185 more genes Panel GTR000528053 complete gene list F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, PC, UQCRQ, ARG1, UQCRB, TYROBP, ATP5F1E, ATP7A, ATP7B, ATPAF2, BCKDHA, BCKDHB, BCS1L, BEST1, TWNK, C12orf65, GAA, ADSL, MMACHC, FBLN5, PRKCG, APP, AMN, PAX6, TGFB1, PSEN1, TUBB3, MTR, RET, OPTN, GPR143, INPP5E, MTRR, AMACR, HSD17B4, CPT2, OPA1, KRT5, DTNBP1, WFS1, PSAP, GLB1, CC2D2A, ATP6V0A2, SRD5A3, GNE, HSD17B10, OCRL, ELOVL4, NDP, HPRT1, NHS, TMEM67, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, TTC8, TRIM32, SHH, PRPH2, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GARS, AFG3L2, FOXRED1, RRM2B, NDUFAF2, KIF1B, MFN2, CRYAB, PANK2, HADHA, RAF1, OPA3, FH, VCP, SMPD1, MECP2, CYP11B2, MTO1, COQ9, PDSS2, PDSS1, ACO2, NDUFA12, DDOST, NDUFB3, NDUFA9, AGK, ALDH18A1, HPS1, DNM1L, DGUOK, BOLA3, ACSF3, BLOC1S3, HPS6, HPS5, HPS4, HPS3, TMEM70, NFU1, PCK2, NDUFAF1, CCDC28B, TTC19, MTPAP, NDUFA10, NUBPL, SCP2, KARS, SPTLC2, ABAT, GFER, TLR3, TMEM126A, SLC25A12, DPM3, PGM1, LDHA, ENO3, GAMT, GATM, SPR, STXBP1, SUCLA2, COQ8A, RFT1, TUBA1A, GYS1, RARS2, COG1, COG8, DARS2, TUSC3, SLC25A3, PNPLA2, TSFM, HTRA2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, TK2, SLC25A22, MPDU1, GFM1, FLVCR1, HADHB, DPM1, COG7, ALG9, ATIC, ALG1, AP3B1, ALG8, ALG2, GRN, COQ2, SPG7, ALG12, B4GALT1, PARK7, HMGCS2, PINK1, GCSH, GLDC, AMT, CISD2, SCO2, SLC35A1, GAD1, ALG6, TYMP, MPI, ETHE1, ALG3, PUS1, OTC, FRMD7, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, SLC9A6, BCOR, ABCD1, MMADHC, LMBRD1, ABHD5, HEXA, GM2A, ALDH5A1, ALDH3A2, HEXB, LPIN1, PHYH, SLC35C1, ALDH7A1, ACOX1, PGAM2, PTS, QDPR, PAH, AGXT, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, CHAT, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, DBT, SUCLG1, GALC, ALDH4A1, HK1, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, FXN, LRPPRC, FASTKD2, COX6B1, SLC3A1, ASS1, CYP27A1, SIX6, SLC22A5, SLC25A20, MGAT2, PMM2, PRKN, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, TPP1, CLN3, ALMS1, HESX1, KIF21A, WWOX, SNCB, PNKD, SOD1, NEFH, GSN, TACO1, TMLHE, SLC6A8, MTFMT, SDHA, ABCD4, AGA, AHCY, ARSB, DOLK, DPAGT1, MOGS, HPD, TSHR, FGFR3, AR, ARSA, ASPA, ARX, ELP1, GBA, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, EIF2B1, FOXG1, GJC2, HRAS, IDS, IDUA, IKBKG, KRAS, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, SHOC2, SLC2A1, SMN1, SOS1, WDR62, FGFR2, HDAC8, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, ATM, MRE11, NBN, PTCH1, PHOX2B, MET, GPC3, RAD50, CHRNE, CLN6, CLN8, DOK7, FKTN, NEB, PEX2, PROP1, PPT1, PEX7, SGCA, SGCB, SACS, TH, MLC1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, ABCC8, CAPN3, CLN5, EIF2B5, PLA2G6, RAPSN, TMEM216, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, NTRK1, WNK1, SPTLC1, ATL1, ZFYVE26, EIF2B3, SMN2, EIF2B2, EIF2B4, SPG11, CSTB, SCN1A, PSEN2, MAPT, APOE, C9orf72, AHI1, NOTCH3, CLCN1, FKRP, CAV3, UBA1, CNBP, DYSF, SCN4A, ATXN3, CACNA1A, TOR1A, THAP1, GCH1, NF1, LRRK2, SGCE, SNCA, FGFR1, KCNJ11, CASR, INS, INF2, LAMB2, BSND, CLCNKB, KCNJ1, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, MATR3, SPAST, KIF5A, ATP2A1, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, BAG3, FHL1, SELENON, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, CACNA1S, RYR1, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TPM3, ACTA1, CCDC78, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, SYNE1, SYNE2, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, KCNA1, CACNB4, SLC1A3, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SYT14, ANO10, TDP1, SIL1, GRM1, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2, LAMA2, POMGNT2, COL6A2, COL6A3, LARGE1, COL6A1, MCPH1, ASPM, ATP1A2, ATP1A3, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, SLC35A2, SLC6A1, FOLR1, GABRD, GRIN2B, KCNT1, KCNQ2, KCNQ3, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, KCNMA1, SCARB2, SCN5A, ALG13, ASAH1, TBC1D24, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK, COL4A1, ARFGEF2, CENPJ, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, KRIT1, DNAJC5, MFSD8, ATP13A2, CCM2, PDCD10, KMT2D, RBFOX1, MAGI2, SETD2, TBL1XR1, SLC13A5, NEXMIF, SZT2, WDR45, ST3GAL3, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, SERPINI1, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, VPS13A, TBX1, LBR, ATP2A2, HTRA1, SHANK3, SHANK2, ACTB, ACTG1, CACNA1D, EDN3, ERCC2, NLRP3, DNMT1, EDNRB, SOX10, PRPS1, CHSY1, GJB3, MYH14, MYH9, PEX6, TFAP2A, DIAPH3, ADNP, MID1, MED12, LAMC3, KIRREL3, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TMEM231, ARID1B, CTNNB1, NLGN4X, NLGN3, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, KAT6B, CLCNKA, MVK, FOXP3, NEU1, CHRNG, PHF8, IGBP1, HUWE1, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, FANCB, DKC1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, USP9X, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, ZCCHC12, MSX2, TWIST1, NSUN2, CLCN2, NEDD4L, MTOR, VANGL1, EXOSC3, TSEN34, TSEN2, TGIF1, ZIC2, CEP152, CDON, GLI2, CDK5RAP2, FLVCR2, PCNT, ATR, NAGA, HYAL1, TGFB2, TGFBR1, TGFBR2, SKI, ACTA2, ABCC6, NFIX, RNF135, GLI3, TP63, MAGEL2, KDM6A, MARS, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN, IFT140, BLOC1S6, SLC4A4, ACVRL1, DOCK8, CSF2RB, NKX2-1, PRKAG2, AMPD1, COL12A1, LIMS2, MYF6, TNPO3, MTMR14, HNRNPDL, SLC5A7, POMK, GMPPB, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, PIEZO2, CHMP1A, ERCC6, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, ERLIN1, REEP2, MAG, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, UCHL1, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27, KIF11, CTDP1, PGK1, FGF10, SLC9A9, LHX4, ACE, CD320, ALX4, EP300, RNASET2, EFTUD2, ASXL1, CCT5, GNPAT, CTC1, NOD2, FTL, CP, COASY, DCAF17, BDNF, MASP1, VEGFA, B9D1, ZIC3, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, EOMES, PIK3CA, RAB18, IER3IP1, RBBP8, MYCN, VLDLR, MARS2, COX10, SCO1, COG4, ALG11, COG6, COG5, TMEM165, IL11RA, CSF1R, TREM2, PRNP, SORL1, TPK1, SLC20A2, FBXO7, EARS2, DRD2, SLC6A3, PCBD1, APOA1, B9D2, ABCA1, PTF1A, VPS35, GP1BA, A2M, FGA, MYO5A, VIPAS39, CD36, VAX1, FREM1, ALX1, B3GLCT, PIK3R2, AKT3, AKT1, SLC4A1, RBM8A, NHEJ1, XK, LPIN2, FADD, DST, COL7A1, RANBP2, PRKRA, NOTCH2, TCTN3, UNC93B1, TRAF3, TICAM1, NLRP12, OCLN, NTRK2, PIGL, PDE6D, CSPP1, WNT5A, HEPACAM, RIN2, ZNF423, DYNC2H1, GRIP1, ESCO2, DHH, ROR2, WNT7A, ICK, ARSE, MAMLD1, PREPL, ASNS, SNAP29, CCDC88C, MPDZ, LAMB1, MED17, ZNF335, CEP135, KNL1, CEP63, TTI2, TAF2, NDST1, CRADD, EPB41L1, CACNG2, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, CA8, CD96, ALX3, ORC1, RNU4ATAC, AMPD2, SEPSECS, ASXL3, TUBGCP6, TSHB, TG, TBCE, DNAJC6, ANO3, HPCA, BCAP31, GNAL, ADCY5, SLC30A10, ACY1, AAAS, ATP8A2, ATP2B3, CAMTA1, ATCAY, COL18A1, GRID2, NOL3, PIK3R5, ELOVL5, ERCC5, NAT8L, STUB1, ITM2B, LMNB1, MAPK10, RUBCN, ZNF592, COA5, WDR81, POLR3A, POLR3B, RNF170, CHCHD10, CWF19L1, SCN10A, AP1S1, DSC3, KCNE5, WNT10A, EIF4G1, IL1RN, ARHGAP31, CERS1, ASCL1, GDNF, RETREG1, NGF, ARHGEF10, HOXD10, FAM126A, COL4A2, GYG1, PEX11B, POGZ, TRPS1, IFRD1, NOP56, UMPS, GLRB, TFAP2B, CST3, GLRA1, IGF1, SLC6A5, DRD3, TRPM6, NOS3, HDAC4, CIZ1, LYZ, PDE8B, HPSE2, PLEKHG4, EXOC8, AIMP1, IRX5, WNT3, TUBA4A, MSX1, TMCO1, GIGYF2, SNCAIP, ERCC1, ZBTB16, FTO, CHRM3, EXOSC8, TRPM7, FBXO38, YWHAE, CACNA1B, ALAD, KANK1, UPB1, NECTIN1, PRRX1, NOG, ATP2B4, ZFR, WDR48, USP8, ARSI, STRADA, RBFOX3, NDUFA4, ERBB4, WAC, HERC2, KCNK9, ADK, FLRT1, NXF5, ELK1, NRG1, VDAC1, DNAH9, FZD9, CD59, JRK, ACKR1, CD207, CR1, CNTNAP4, CDK11A, RABGGTA, TNFSF4, FRG1, TAS2R38, CISH, SNX3, ICAM1, YAP1, ADAM10, ZBTB18, EIF4E, SNIP1, AANAT, KCNK18, XBP1, NOS2, TIRAP, TLR5, PRKCH, ALOX5AP, TNF, FCGR2B Specificity 1 % Genes 100 %
CentoICU platinum plus. By Centogene AG - the Rare Disease Company in Germany. BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...) View the complete list with 494 more genes Panel GTR000530427 complete gene list BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, ATP8B1, AUH, BCKDHA, BCKDHB, BCS1L, C12orf65, GAA, ADSL, HNF1A, HBB, MMACHC, EYA1, COL1A1, COL1A2, STAR, WT1, RB1, PSEN1, HNF1B, MTR, RET, SLC37A4, EYA4, ABCA12, SLC16A1, MTRR, HSD17B4, CPS1, CPT2, KRT5, TRMU, WFS1, COMT, PSAP, GNPTAB, GLB1, PRODH, GNE, HSD17B10, JAG1, HPRT1, MKKS, ADGRV1, CEP290, AASS, DLD, POLG, NDUFS4, SLC25A19, GCK, CYP11B1, FOXRED1, NDUFAF2, ALAS2, SLC25A13, HADHA, RAF1, OPA3, FH, SMPD1, MECP2, CYP11B2, FBN1, COQ9, PDSS2, PDSS1, LIAS, ACSF3, PDHB, ALDH6A1, NFU1, FAH, NDUFAF1, HMGCL, HSD3B2, TAT, ABAT, GAMT, GATM, SPR, STXBP1, SUCLA2, ACAD8, P3H1, CRTAP, DNAJC19, CTSD, ACADSB, HADHB, PDP1, UNG, UCP2, COQ2, PCCA, HMGCS2, GLDC, AMT, ETHE1, D2HGDH, OTC, PDHA1, GK, TAZ, AIFM1, SLC9A6, MMADHC, LMBRD1, TCN2, HEXA, SUOX, ALDH5A1, ALDH3A2, HEXB, ALDH7A1, ACOX1, PTS, QDPR, PAH, AGXT, OAT, CTSA, NDUFA2, COX15, NDUFS7, NDUFAF6, CPT1A, GUSB, GALNS, MOCS2, MOCS1, SDHAF1, NDUFA11, NDUFV2, NDUFS2, NDUFAF5, MMAB, MMAA, MUT, HIBCH, DBT, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, NAGS, CBS, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, GLYCTK, LRPPRC, SLC3A1, ASS1, SLC22A5, SLC25A20, PMM2, ASL, SOX2, ALMS1, OGDH, CYP17A1, ANKRD26, HESX1, PAX2, PDHX, ABCD4, ADA, AGA, AHCY, ARSB, SUGCT, DOLK, GNMT, HPD, IL2RG, PNP, TSHR, ARSA, ASPA, CFTR, FANCC, BRAF, CDKL5, CHD7, DHCR7, FOXG1, GJB2, GLA, HRAS, KRAS, LIPA, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PLOD1, POMC, PTPN11, RMRP, RPS19, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, MAP2K2, TSC2, TSC1, NIPBL, NSD1, PHOX2B, GPC3, SBDS, LAMB3, FKTN, G6PD, CTNS, PROP1, DCLRE1C, SERPINA1, SLC7A7, SLC26A2, UGT1A1, LAMA3, SUMF1, WAS, ABCC8, BTK, LAMC2, PHGDH, PKHD1, TGM1, PMP22, EGR2, WNK1, CSTB, SCN1A, GCH1, NR0B1, KCNJ11, CASR, INS, PDX1, HNF4A, POU1F1, BSND, PKD2, PLEC, POMT2, POMT1, LAMA2, MCPH1, ASPM, NHLRC1, KCNH2, ST3GAL5, SCN2A, KCNQ2, KCNQ3, PNPO, EPM2A, BCKDK, CENPJ, RAB3GAP1, STIL, KMT2D, SPTAN1, KCNJ10, TCF4, ATRX, CASK, ZEB2, SALL1, ATP6V1B1, CACNA1D, EDN3, COL11A1, PNPT1, PAX3, KCNQ4, SIX5, PRPS1, KCNE1, KCNQ1, SIX1, GATA3, TJP2, FUCA1, CACNA1C, GATA1, KLF1, MVK, PKLR, UROS, NEU1, CDAN1, MAGT1, FANCB, RPS6KA3, NAA10, COMP, SPRED1, CEP152, CDK5RAP2, PCNT, ATR, CACNB2, GPSM2, MITF, CALM1, AKAP9, KDM6A, SFTPD, DOCK8, ABCA3, SFTPC, SFTPB, PRKAG2, DNA2, RAB3GAP2, F11, SPINK1, TBX19, LHX4, LHX3, CD320, SALL4, TBX5, JAK3, GNAS, F9, F8, ADAMTS13, FANCA, FANCD2, BDNF, AKR1D1, EVC, EVC2, RAB18, IER3IP1, RBBP8, MYCN, SLC46A1, MAT1A, DDC, PCBD1, PSPH, HADH, APOC2, AKT2, GLIS3, PTF1A, EIF2AK3, GP1BA, FGA, FGB, FGG, P2RX1, P2RY12, STIM1, GFI1B, ITGB3, ITGA2B, MASTL, TNFRSF13B, AICDA, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, GNA11, INSR, SLC4A1, ELANE, RBM8A, LAMTOR2, RAC2, NHEJ1, LIG4, PTPRC, SPTB, SPTA1, ANK1, EPB42, GSS, C15orf41, PIK3CD, LRBA, PROS1, ITGB4, ITGA6, COL17A1, COL7A1, IL12RB1, NFKB2, ABCC2, JAGN1, F7, CD19, CR2, CD81, ICOS, PRKDC, TNFRSF13C, NOTCH2, CARD11, IL2RA, TSPYL1, FRAS1, ASNS, ACTN1, GP9, SLC25A1, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG, SERAC1, COA5, PET100, F10, SERPING1, ALOX12B, NIPAL4, CERS3, STS, ALOXE3, PNPLA1, CYP4F22, LIPN, PSAT1, SLCO1B1, SLCO1B3, LRRC8A, BLNK, CD79A, IGLL1, CD79B, F13A1, PEPD, SERPINC1, SLC52A1, TRHR, UMPS, HGD, IGF1, PCK1, IL21R, MALT1, IGF1R, GPHN, UQCRC2, MCM4, CD3G, CORO1A, UPB1, MPC1, UQCC2, ADK, CD247, IRF8, CTPS1, IL2, OPRM1, SOX6, CABS1, LCK, IKBKB, PPM1K, OPLAH Specificity 1 % Genes 50 %
CentoICU platinum. By Centogene AG - the Rare Disease Company in Germany. BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...) View the complete list with 494 more genes Panel GTR000530428 complete gene list BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, ATP8B1, AUH, BCKDHA, BCKDHB, BCS1L, C12orf65, GAA, ADSL, HNF1A, HBB, MMACHC, EYA1, COL1A1, COL1A2, STAR, WT1, RB1, PSEN1, HNF1B, MTR, RET, SLC37A4, EYA4, ABCA12, SLC16A1, MTRR, HSD17B4, CPS1, CPT2, KRT5, TRMU, WFS1, COMT, PSAP, GNPTAB, GLB1, PRODH, GNE, HSD17B10, JAG1, HPRT1, MKKS, ADGRV1, CEP290, AASS, DLD, POLG, NDUFS4, SLC25A19, GCK, CYP11B1, FOXRED1, NDUFAF2, ALAS2, SLC25A13, HADHA, RAF1, OPA3, FH, SMPD1, MECP2, CYP11B2, FBN1, COQ9, PDSS2, PDSS1, LIAS, ACSF3, PDHB, ALDH6A1, NFU1, FAH, NDUFAF1, HMGCL, HSD3B2, TAT, ABAT, GAMT, GATM, SPR, STXBP1, SUCLA2, ACAD8, P3H1, CRTAP, DNAJC19, CTSD, ACADSB, HADHB, PDP1, UNG, UCP2, COQ2, PCCA, HMGCS2, GLDC, AMT, ETHE1, D2HGDH, OTC, PDHA1, GK, TAZ, AIFM1, SLC9A6, MMADHC, LMBRD1, TCN2, HEXA, SUOX, ALDH5A1, ALDH3A2, HEXB, ALDH7A1, ACOX1, PTS, QDPR, PAH, AGXT, OAT, CTSA, NDUFA2, COX15, NDUFS7, NDUFAF6, CPT1A, GUSB, GALNS, MOCS2, MOCS1, SDHAF1, NDUFA11, NDUFV2, NDUFS2, NDUFAF5, MMAB, MMAA, MUT, HIBCH, DBT, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, NAGS, CBS, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, GLYCTK, LRPPRC, SLC3A1, ASS1, SLC22A5, SLC25A20, PMM2, ASL, SOX2, ALMS1, OGDH, CYP17A1, ANKRD26, HESX1, PAX2, PDHX, ABCD4, ADA, AGA, AHCY, ARSB, SUGCT, DOLK, GNMT, HPD, IL2RG, PNP, TSHR, ARSA, ASPA, CFTR, FANCC, BRAF, CDKL5, CHD7, DHCR7, FOXG1, GJB2, GLA, HRAS, KRAS, LIPA, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PLOD1, POMC, PTPN11, RMRP, RPS19, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, MAP2K2, TSC2, TSC1, NIPBL, NSD1, PHOX2B, GPC3, SBDS, LAMB3, FKTN, G6PD, CTNS, PROP1, DCLRE1C, SERPINA1, SLC7A7, SLC26A2, UGT1A1, LAMA3, SUMF1, WAS, ABCC8, BTK, LAMC2, PHGDH, PKHD1, TGM1, PMP22, EGR2, WNK1, CSTB, SCN1A, GCH1, NR0B1, KCNJ11, CASR, INS, PDX1, HNF4A, POU1F1, BSND, PKD2, PLEC, POMT2, POMT1, LAMA2, MCPH1, ASPM, NHLRC1, KCNH2, ST3GAL5, SCN2A, KCNQ2, KCNQ3, PNPO, EPM2A, BCKDK, CENPJ, RAB3GAP1, STIL, KMT2D, SPTAN1, KCNJ10, TCF4, ATRX, CASK, ZEB2, SALL1, ATP6V1B1, CACNA1D, EDN3, COL11A1, PNPT1, PAX3, KCNQ4, SIX5, PRPS1, KCNE1, KCNQ1, SIX1, GATA3, TJP2, FUCA1, CACNA1C, GATA1, KLF1, MVK, PKLR, UROS, NEU1, CDAN1, MAGT1, FANCB, RPS6KA3, NAA10, COMP, SPRED1, CEP152, CDK5RAP2, PCNT, ATR, CACNB2, GPSM2, MITF, CALM1, AKAP9, KDM6A, SFTPD, DOCK8, ABCA3, SFTPC, SFTPB, PRKAG2, DNA2, RAB3GAP2, F11, SPINK1, TBX19, LHX4, LHX3, CD320, SALL4, TBX5, JAK3, GNAS, F9, F8, ADAMTS13, FANCA, FANCD2, BDNF, AKR1D1, EVC, EVC2, RAB18, IER3IP1, RBBP8, MYCN, SLC46A1, MAT1A, DDC, PCBD1, PSPH, HADH, APOC2, AKT2, GLIS3, PTF1A, EIF2AK3, GP1BA, FGA, FGB, FGG, P2RX1, P2RY12, STIM1, GFI1B, ITGB3, ITGA2B, MASTL, TNFRSF13B, AICDA, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, GNA11, INSR, SLC4A1, ELANE, RBM8A, LAMTOR2, RAC2, NHEJ1, LIG4, PTPRC, SPTB, SPTA1, ANK1, EPB42, GSS, C15orf41, PIK3CD, LRBA, PROS1, ITGB4, ITGA6, COL17A1, COL7A1, IL12RB1, NFKB2, ABCC2, JAGN1, F7, CD19, CR2, CD81, ICOS, PRKDC, TNFRSF13C, NOTCH2, CARD11, IL2RA, TSPYL1, FRAS1, ASNS, ACTN1, GP9, SLC25A1, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG, SERAC1, COA5, PET100, F10, SERPING1, ALOX12B, NIPAL4, CERS3, STS, ALOXE3, PNPLA1, CYP4F22, LIPN, PSAT1, SLCO1B1, SLCO1B3, LRRC8A, BLNK, CD79A, IGLL1, CD79B, F13A1, PEPD, SERPINC1, SLC52A1, TRHR, UMPS, HGD, IGF1, PCK1, IL21R, MALT1, IGF1R, GPHN, UQCRC2, MCM4, CD3G, CORO1A, UPB1, MPC1, UQCC2, ADK, CD247, IRF8, CTPS1, IL2, OPRM1, SOX6, CABS1, LCK, IKBKB, PPM1K, OPLAH Specificity 1 % Genes 50 %
Epileptic Encephalopathy Panel. By CeGaT GmbH in Germany. MTHFR, UBE3A, ADSL, CPT2, MECP2, GAMT, STXBP1, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH7A1, MOCS2, MOCS1, ARX, CDKL5, FOXG1, MEF2C, PCDH19 , (...) View the complete list with 57 more genes Panel GTR000522362 complete gene list MTHFR, UBE3A, ADSL, CPT2, MECP2, GAMT, STXBP1, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH7A1, MOCS2, MOCS1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, SYNGAP1, TSC1, SCN1A, CACNA1A, GABRB3, SLC19A3, ST3GAL5, SCN1B, SCN2A, SLC35A2, FOLR1, GRIN2B, KCNT1, KCNQ2, PNPO, CHD2, GABRA1, GABRG2, GRIN2A, MBD5, ALG13, TBC1D24, BRAT1, DCX, FLNA, HNRNPU, KCNA2, DNM1, KCNB1, SZT2, GNAO1, WDR45, ST3GAL3, ROGDI, SCN8A, NRXN1, GRIN1, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, ARHGEF9, SYN1, CASK, ZEB2, TREX1, ADAR, ACY1, HDAC4, GPHN Specificity 2 % Genes 50 %
Idiopathic Generalized and Focal Epilepsy Panel. By CeGaT GmbH in Germany. AMACR, ME2, ALDH7A1, SLC2A1, SCN1A, CACNA1A, CASR, KCNA1, CACNB4, SLC1A3, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, SCN9A, SCN1B, SCN2A, STX1B , (...) View the complete list with 20 more genes Panel GTR000522397 complete gene list AMACR, ME2, ALDH7A1, SLC2A1, SCN1A, CACNA1A, CASR, KCNA1, CACNB4, SLC1A3, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, SCN9A, SCN1B, SCN2A, STX1B, GABRD, KCNT1, KCNQ2, KCNQ3, CHRNA2, CHRNA4, GABRA1, GABRG2, GRIN2A, KCNMA1, TBC1D24, DEPDC5, PRRT2, RBFOX1, SCN8A, CLCN2, CNTN2, RBFOX3, UBR5, NIPA2 Specificity 5 % Genes 100 %
Migraine Panel. By CeGaT GmbH in Germany. POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, SLC1A3, ATP1A2, ATP1A3, PRRT2, KCNK18 Specificity 20 % Genes 100 %
Episodic Ataxia Panel. By CeGaT GmbH in Germany. SLC2A1, CACNA1A, KCNA1, CACNB4, SLC1A3, FGF14, KCNQ2 Specificity 15 % Genes 50 %
Paroxysmal Dyskinesia Panel. By CeGaT GmbH in Germany. PNKD, SLC2A1, KCNMA1, PRRT2, SCN8A, ADCY5 Specificity 34 % Genes 100 %
Paroxysmal Movement Disorders Panel. By CeGaT GmbH in Germany. PNKD, SLC2A1, KCNMA1, PRRT2 Specificity 50 % Genes 100 %
Dystonia All Panel. By CeGaT GmbH in Germany. ATP7A, ATP7B, AUH, PANK2, MECP2, SPR, TIMM8A, HEXA, SLC25A15, GCDH, CYP27A1, PRKN, CLN3, PNKD, ARSA, ARX, NPC1, NPC2, SLC2A1, ATM , (...) View the complete list with 34 more genes Panel GTR000522520 complete gene list ATP7A, ATP7B, AUH, PANK2, MECP2, SPR, TIMM8A, HEXA, SLC25A15, GCDH, CYP27A1, PRKN, CLN3, PNKD, ARSA, ARX, NPC1, NPC2, SLC2A1, ATM, TH, MLC1, PLA2G6, CLCN1, TOR1A, THAP1, GCH1, SGCE, ALS2, DCTN1, COL6A3, ATP1A3, SLC19A3, KCNMA1, PRRT2, VPS13A, TAF1, KIF1C, TUBB4A, FTL, CSF1R, PRKRA, COX20, ANO3, HPCA, KCTD17, BCAP31, GNAL, ADCY5, SLC30A10, ACY1, CIZ1, CACNA1B, MED20 Specificity 4 % Genes 100 %
Single gene testing SLC2A1. By CeGaT GmbH in Germany. SLC2A1 Specificity 100 % Genes 50 %
Childhood absence epilepsy. By Laboratory of Human Genetics GENOMED Health Care Center in Poland. SLC2A1, CACNA1H, GABRB3, GABRA1, GABRG2, JRK Specificity 17 % Genes 50 %
Glucose transporter type 1 deficiency syndrome. By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology in Greece. SLC2A1 Specificity 100 % Genes 50 %
Dystonia 9 (SLC2A1). By MVZ Dortmund Dr. Eberhard & Partner in Germany. SLC2A1 Specificity 100 % Genes 50 %
Dystonia 9, SLC2A1. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SLC2A1 Specificity 100 % Genes 50 %
SLC2A1-MLPA. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SLC2A1 Specificity 100 % Genes 50 %
SLC2A1-MLPA. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SLC2A1 Specificity 100 % Genes 50 %
Dystonia. By Asper Biogene Asper Biogene LLC in Estonia. ATP7B, PANK2, SPR, TIMM8A, GCDH, PRKN, PNKD, ARSA, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, COL6A3, ATP1A3, KCNMA1, PRRT2 , (...) View the complete list with 18 more genes Panel GTR000530097 complete gene list ATP7B, PANK2, SPR, TIMM8A, GCDH, PRKN, PNKD, ARSA, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, COL6A3, ATP1A3, KCNMA1, PRRT2, RELN, GNAO1, ACTB, TAF1, TUBB4A, DRD2, SLC6A3, PRKRA, SLC25A1, TBCE, SLC39A14, ANO3, HPCA, KCTD17, GNAL, ADCY5, SLC30A10, CACNA1B Specificity 6 % Genes 100 %
NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies. By BLOODGENETICS BLOODGENETICS in Spain. ALDOA, ABCB6, GPX1, GPI, AK1, NT5C3A, CYB5R3, HK1, PFKM, ADA, SLC2A1, G6PD, UGT1A1, PIEZO1, PKLR, PGK1, ABCG5, ABCG8, SLC4A1, GYPC , (...) View the complete list with 13 more genes Panel GTR000553648 complete gene list ALDOA, ABCB6, GPX1, GPI, AK1, NT5C3A, CYB5R3, HK1, PFKM, ADA, SLC2A1, G6PD, UGT1A1, PIEZO1, PKLR, PGK1, ABCG5, ABCG8, SLC4A1, GYPC, KCNN4, EPB41, SPTB, SPTA1, ANK1, XK, EPB42, RHAG, GCLC, GSR, TPI1, GSS, BPGM Specificity 4 % Genes 50 %
Glucose Transporter Type 1 Deficiency Syndrome. By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany. SLC2A1 Specificity 100 % Genes 50 %
Dystonia 18. By Praxis fuer Humangenetik Wien in Austria. SLC2A1 Specificity 100 % Genes 50 %
GLUT1 definciency syndrome. By Praxis fuer Humangenetik Wien in Austria. SLC2A1 Specificity 100 % Genes 50 %
SLC2A1. By Division Human Genetics Medical University Innsbruck in Austria. SLC2A1 Specificity 100 % Genes 50 %
Dystonia 18. By MedGene in Slovakia. SLC2A1 Specificity 100 % Genes 50 %
GLUT1 definciency syndrome. By MedGene in Slovakia. SLC2A1 Specificity 100 % Genes 50 %
Invitae Dystonia Comprehensive Panel. By Invitae in United States. SPR, PRKN, PNKD, SLC2A1, TH, TOR1A, THAP1, GCH1, SGCE, ATP1A3, PRRT2, TUBB4A, SLC6A3, PRKRA, ANO3, GNAL Specificity 13 % Genes 100 %
Invitae Epilepsy Panel. By Invitae in United States. UBE3A, ADSL, POLG, MECP2, LIAS, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, TPP1, CLN3, WWOX, PNKD, SLC6A8, ARX, CDKL5 , (...) View the complete list with 105 more genes Panel GTR000551760 complete gene list UBE3A, ADSL, POLG, MECP2, LIAS, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, TPP1, CLN3, WWOX, PNKD, SLC6A8, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, SYNGAP1, SMC1A, TSC1, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A, SGCE, ATP1A2, ATP1A3, CHRNB2, EFHC1, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, KCNH2, PRICKLE1, SCN9A, SLC19A3, SCN1B, SCN2A, SYNJ1, STX1B, SLC35A2, SLC6A1, FOLR1, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, ALG13, TBC1D24, DEPDC5, PRRT2, BRAT1, PIGO, QARS, DNAJC5, MFSD8, CACNA2D2, HNRNPU, SPATA5, EEF1A2, KCNA2, DNM1, PURA, KCNB1, SLC13A5, NEXMIF, SZT2, GNAO1, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, SERPINI1, ATRX, IQSEC2, ARHGEF9, SYN1, CASK, ZEB2, EHMT1, ZDHHC9, SATB2, IER3IP1, PACS1, C12orf57, GLRA1, NGLY1, FRRS1L, SNX27, ITPA Specificity 2 % Genes 100 %
Invitae Early Infantile Epileptic Encephalopathy Panel. By Invitae in United States. STXBP1, SLC25A22, ALDH7A1, WWOX, ARX, CDKL5, PCDH19, SLC2A1, SYNGAP1, SMC1A, SCN1A, GABRB3, SCN9A, SCN2A, SLC35A2, SLC6A1, FOLR1, GRIN2B, HCN1, KCNT1 , (...) View the complete list with 29 more genes Panel GTR000551789 complete gene list STXBP1, SLC25A22, ALDH7A1, WWOX, ARX, CDKL5, PCDH19, SLC2A1, SYNGAP1, SMC1A, SCN1A, GABRB3, SCN9A, SCN2A, SLC35A2, SLC6A1, FOLR1, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, PNPO, CHD2, GABRA1, TBC1D24, BRAT1, PIGO, CACNA2D2, HNRNPU, EEF1A2, KCNA2, DNM1, PURA, KCNB1, SLC13A5, SZT2, GNAO1, SCN8A, PIGA, GRIN1, PIGN, PLCB1, SPTAN1, PNKP, ARHGEF9, CASK, IER3IP1, FRRS1L Specificity 3 % Genes 50 %
Invitae Glucose Transporter Type 1 (GLUT1) Deficiency Syndrome Test. By Invitae in United States. SLC2A1 Specificity 100 % Genes 50 %
Invitae Treatable Neurometabolic Disorders Panel. By Invitae in United States. MTHFR, MCCC1, MCCC2, ACAT1, ARG1, HLCS, ATP7A, BTD, ATP7B, AUH, BCKDHA, BCKDHB, MMACHC, AMN, MTR, MTRR, CPS1, HSD17B10, DLD, SLC25A13 , (...) View the complete list with 72 more genes Panel GTR000553830 complete gene list MTHFR, MCCC1, MCCC2, ACAT1, ARG1, HLCS, ATP7A, BTD, ATP7B, AUH, BCKDHA, BCKDHB, MMACHC, AMN, MTR, MTRR, CPS1, HSD17B10, DLD, SLC25A13, PANK2, PDHB, HMGCL, TAT, GAMT, GATM, SPR, PDP1, GLUD1, PCCB, PCCA, HMGCS2, GCSH, GLDC, AMT, ETHE1, OTC, PDHA1, ABCD1, MMADHC, LMBRD1, ALDH5A1, ALDH7A1, PTS, QDPR, PAH, CUBN, GIF, GUSB, SGSH, MOCS1, MMAB, MMAA, MUT, DBT, MAN2B1, DLAT, OXCT1, IVD, SLC25A15, NAGS, CBS, ETFB, ETFA, ETFDH, GCDH, ASS1, CYP27A1, ASL, TPP1, SLC6A8, PDHX, AGA, ARSA, DHCR7, GLA, IDS, IDUA, LIPA, NPC1, NPC2, SLC2A1, TH, PHGDH, GCH1, SLC19A3, PNPO, CP, PCBD1, PSPH, PSAT1, PPM1K Specificity 2 % Genes 50 %
GLUT1 deficiency syndrome: SLC2A1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SLC2A1 Specificity 100 % Genes 50 %
GLUT1 deficiency syndrome: SLC2A1 gene sequence analysis (exon 4). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SLC2A1 Specificity 100 % Genes 50 %
Dystonia 18: sequencing of SLC2A1 gene.. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SLC2A1 Specificity 100 % Genes 50 %
MIGRAINE. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, ATP1A2 Specificity 17 % Genes 50 %
DYSTONIA. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PANK2, SPR, PRKN, SLC2A1, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, ATP1A3, TAF1, PRKRA Specificity 8 % Genes 50 %
EPILEPSY HEREDITARY PANEL. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. STXBP1, ALDH7A1, ARX, CDKL5, PCDH19, SLC2A1, MT-ATP6, SCN1A, CACNA1A, KCNA1, CACNB4, ATP1A2, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, NHLRC1, SCN9A , (...) View the complete list with 17 more genes Panel GTR000531479 complete gene list STXBP1, ALDH7A1, ARX, CDKL5, PCDH19, SLC2A1, MT-ATP6, SCN1A, CACNA1A, KCNA1, CACNB4, ATP1A2, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, NHLRC1, SCN9A, SCN1B, SCN2A, GABRD, KCNQ2, KCNQ3, CHRNA2, CHRNA4, EPM2A, GABRA1, GABRG2, KCNMA1, DEPDC5, PRRT2, SRPX2, SCN8A, CLCN2, JRK Specificity 6 % Genes 100 %
Epileptic encephalopathies. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. MECP2, STXBP1, SLC25A22, GCSH, GLDC, AMT, WWOX, ARX, CDKL5, PCDH19, SLC2A1, SCN1A, SCN2A, GRIN2B, HCN1, KCNQ2, CHD2, GABRA1, GRIN2A, MBD5 , (...) View the complete list with 15 more genes Panel GTR000531576 complete gene list MECP2, STXBP1, SLC25A22, GCSH, GLDC, AMT, WWOX, ARX, CDKL5, PCDH19, SLC2A1, SCN1A, SCN2A, GRIN2B, HCN1, KCNQ2, CHD2, GABRA1, GRIN2A, MBD5, TBC1D24, DCX, SRPX2, DNM1, ST3GAL3, SCN8A, PIGA, PLCB1, SPTAN1, PNKP, ARHGEF9, CASK, TREX1, AARS, MAPK10 Specificity 3 % Genes 50 %
Glucose Transporter Type 1 Deficiency Syndrome: SLC2A1 Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SLC2A1 Specificity 100 % Genes 50 %
Glucose Transporter Type 1 Deficiency Syndrome: SLC2A1 Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SLC2A1 Specificity 100 % Genes 50 %
Epilepsy and Seizure Disorders: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, NDUFA1, CYP27A1 , (...) View the complete list with 90 more genes Panel GTR000512416 complete gene list MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, NDUFA1, CYP27A1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, WDR62, TSC2, TSC1, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A, CACNA1A, KCNJ11, CASR, KCNA1, CACNB4, MCPH1, ASPM, ATP1A2, CHRNB2, CPA6, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, FOLR1, HCN1, KCNT1, KCNQ2, KCNQ3, PNPO, SCN3A, CHRNA2, CHRNA4, EPM2A, GABRA1, GABRG2, GRIN2A, HCN4, MBD5, KCNMA1, SCARB2, TBC1D24, PRRT2, BCKDK, CENPJ, DCX, EMX2, NDE1, SIX3, RELN, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, DNAJC5, MFSD8, MAGI2, ST3GAL3, SCN8A, NRXN1, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, PHF6, ARHGEF9, SYN1, OPHN1, ATP6AP2, CASK, ZEB2 Specificity 2 % Genes 100 %
Autism Spectrum Disorders: Tier 2 Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ALDH5A1, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11 , (...) View the complete list with 42 more genes Panel GTR000512587 complete gene list FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ALDH5A1, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, SLC2A1, SMC1A, NIPBL, NSD1, SCN1A, L1CAM, FOLR1, MBD5, BCKDK, PQBP1, RELN, PAFAH1B1, NRXN1, PNKP, TCF4, CNTNAP2, ATRX, FGD1, PHF6, KDM5C, OPHN1, CASK, RAB39B, ZEB2, VPS13B, PTCHD1, MID1, MED12, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, NLGN4X, NLGN3, AFF2, UBE2A, MAGEL2, SMARCB1, NR1I3 Specificity 2 % Genes 50 %
Neurology: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22 , (...) View the complete list with 144 more genes Panel GTR000512608 complete gene list UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22, SLC9A6, ALDH7A1, MKS1, TPP1, CLN3, ARX, CDKL5, DHCR7, FOXG1, MEF2C, PCDH19, SLC2A1, WDR62, TSC2, TSC1, PTCH1, CLN6, CLN8, FKTN, PPT1, POMGNT1, CLN5, TMEM216, CSTB, SCN1A, AHI1, FKRP, FGF8, VRK1, POMT2, POMT1, CACNB4, LARGE1, MCPH1, ASPM, ATP1A2, CHRNB2, CPA6, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, FOLR1, GRIN2B, KCNT1, KCNQ2, KCNQ3, PNPO, CHRNA2, CHRNA4, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, KCNMA1, SCARB2, TBC1D24, PRRT2, BCKDK, ARFGEF2, CENPJ, DCX, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, DNAJC5, MFSD8, MAGI2, ST3GAL3, SCN8A, NRXN1, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, KIF1BP, ATRX, ARHGEF9, SYN1, OPHN1, ATP6AP2, CASK, ZEB2, ACTB, ACTG1, LAMC3, EHMT1, EXOSC3, TSEN34, TSEN2, TGIF1, ZIC2, CEP152, NODAL, FOXH1, GLI2, CDK5RAP2, PCNT, ATR, CHMP1A, RAB3GAP2, TMEM237, TMEM138, RPGRIP1L, KIF7, CEP41, EOMES, RAB18, RBBP8, MYCN, VLDLR, DISP1, RTTN, ZNF335, CEP135, KNL1, CEP63, NIN, CDC6, CDT1, ORC6, ORC4, POC1A, MAPK10 Specificity 2 % Genes 100 %
Dystonia: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...) View the complete list with 62 more genes Panel GTR000523298 complete gene list PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1, DLAT, L2HGDH, GCDH, FASTKD2, CYP27A1, PRKN, APTX, PNKD, PDHX, ARSA, ARX, FOXG1, NPC2, PLP1, SLC2A1, ATM, TH, MCOLN1, PLA2G6, CACNA1A, TOR1A, THAP1, GCH1, SGCE, FA2H, CHMP2B, COL6A3, ATP1A2, ATP1A3, SLC19A3, KCNQ2, PRRT2, ATP13A2, WDR45, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, PNPT1, AP1S2, TAF1, ERCC6, C19orf12, ADAR, VPS37A, CP, DCAF17, TREM2, DRD5, SLC46A1, TPK1, SLC20A2, MAT1A, FBXO7, EARS2, DDC, MR1, DRD2, SLC6A3, PDGFRB, SERAC1 Specificity 3 % Genes 100 %
Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, SLC2A1 , (...) View the complete list with 39 more genes Panel GTR000558536 complete gene list FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, SLC2A1, SMC1A, NIPBL, NSD1, SCN1A, L1CAM, FOLR1, MBD5, BCKDK, PQBP1, RELN, PAFAH1B1, NRXN1, PNKP, TCF4, CNTNAP2, ATRX, FGD1, PHF6, KDM5C, OPHN1, CASK, RAB39B, ZEB2, VPS13B, PTCHD1, MID1, MED12, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, NLGN4X, NLGN3, AFF2, UBE2A, MAGEL2, SMARCB1, NR1I3 Specificity 2 % Genes 50 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3 , (...) View the complete list with 87 more genes Panel GTR000558825 complete gene list MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, WDR62, TSC2, TSC1, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A, CACNA1A, KCNJ11, CASR, KCNA1, CACNB4, MCPH1, ASPM, ATP1A2, CHRNB2, CPA6, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, FOLR1, HCN1, KCNT1, KCNQ2, KCNQ3, PNPO, SCN3A, CHRNA2, CHRNA4, EPM2A, GABRA1, GABRG2, GRIN2A, HCN4, MBD5, KCNMA1, SCARB2, TBC1D24, BCKDK, CENPJ, DCX, EMX2, NDE1, SIX3, RELN, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, DNAJC5, MFSD8, MAGI2, ST3GAL3, SCN8A, NRXN1, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, PHF6, ARHGEF9, SYN1, OPHN1, ATP6AP2, CASK, ZEB2 Specificity 1 % Genes 50 %
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies. By Mayo Clinic Genetic Testing Laboratories Mayo Clinic in United States. ALDOA, HBB, GPI, AK1, NT5C3A, HK1, PFKM, FANCC, RPS19, SLC2A1, G6PD, UGT1A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1 , (...) View the complete list with 20 more genes Panel GTR000553666 complete gene list ALDOA, HBB, GPI, AK1, NT5C3A, HK1, PFKM, FANCC, RPS19, SLC2A1, G6PD, UGT1A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, FANCA, FANCG, SLC4A1, GYPC, EPB41, SPTB, SPTA1, ANK1, XK, EPB42, RHAG, GCLC, GSR, TPI1, GSS, C15orf41, HBD, CD59, HMOX1, STOM Specificity 3 % Genes 50 %
Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...) View the complete list with 323 more genes Panel GTR000509399 complete gene list MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67, NPHP1, ADGRV1, CEP290, SHH, DLD, POLG, NDUFS4, SLC25A19, PANK2, RAF1, FH, SMPD1, MECP2, COQ9, PDSS2, PDSS1, TMEM70, ABAT, DPM3, GAMT, GATM, STXBP1, COQ8A, RFT1, TUBA1A, RARS2, COG1, COG8, KCNV2, CTSD, SLC25A22, MPDU1, DPM1, COG7, ALG9, ATIC, ALG1, ALG8, ALG2, COQ2, ALG12, B4GALT1, GCSH, GLDC, AMT, SCO2, SLC35A1, ALG6, MPI, ALG3, PDHA1, SLC9A6, HEXA, SUOX, ALDH5A1, HEXB, SLC35C1, ALDH7A1, QDPR, CTSA, NDUFA2, COX15, NDUFS8, NDUFS7, NDUFS3, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFA1, NDUFS1, NDUFV1, GALC, ALDH4A1, SLC25A15, L2HGDH, ETFB, ETFA, ETFDH, GCDH, LRPPRC, MGAT2, PMM2, APTX, TPP1, CLN3, TACO1, SDHA, AGA, ARSB, DOLK, DPAGT1, MOGS, HPD, FGFR3, ARSA, ASPA, ARX, BRAF, CDKL5, EIF2B1, FOXG1, HRAS, IDS, IDUA, KRAS, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PTPN11, RAI1, SHOC2, SLC2A1, SOS1, WDR62, MAP2K2, TSC2, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, PTCH1, GPC3, CLN6, CLN8, FKTN, PEX2, PPT1, PEX7, MLC1, MCOLN1, PEX1, POMGNT1, SLC17A5, SUMF1, ABCC8, CLN5, EIF2B5, PLA2G6, DPYD, TMEM216, EIF2B3, EIF2B2, EIF2B4, CSTB, SCN1A, AHI1, NOTCH3, FKRP, SCN4A, CACNA1A, NF1, KCNJ11, FGF8, CASR, CLCNKB, KCNJ1, VRK1, POMT2, POMT1, KCNA1, CACNB4, LAMA2, LARGE1, MCPH1, ASPM, ATP1A2, CACNA1H, CHRNB2, EFHC1, LGI1, GABRB3, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN9A, SCN1B, SCN2A, FOLR1, GABRD, GRIN2B, HCN1, KCNQ2, KCNQ3, PNPO, SCN3A, CHRNA2, CHRNA4, EPM2A, GABRA1, GABRG2, GRIN2A, HCN4, MBD5, KCNMA1, SCARB2, SCN5A, TBC1D24, PRRT2, COL4A1, ARFGEF2, CENPJ, DCX, EMX2, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, MFSD8, KMT2D, MAGI2, SCN8A, NRXN1, GRIN1, PIGV, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, SERPINI1, OFD1, SMS, ATRX, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, VPS13A, TBX1, LBR, ATP2A2, PEX6, FUCA1, PEX14, PEX3, PEX26, PEX12, PEX5, KAT6B, CLCNKA, NEU1, SPRED1, CCL2, CLCN2, VANGL1, TSEN34, TSEN2, TGIF1, ZIC2, CEP152, ABCB1, NODAL, CDON, GLI2, CDK5RAP2, FLVCR2, PCNT, ATR, GNPTG, GLI3, SCN2B, SCN3B, SCN4B, PGK1, RPGRIP1L, ARL13B, SLC46A1, NHEJ1, LIG4, SNAP29, MED17, ACY1, COL18A1, MAPK10, BUB1B, SCN10A, GLRB, GLRA1, SLC6A5, GPHN, CELSR1, EFHC2 Specificity 1 % Genes 100 %
Intellectual Disability NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...) View the complete list with 372 more genes Panel GTR000509442 complete gene list BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2, PAX6, TUBB3, MTR, CPS1, PYCR1, GNPTAB, CC2D2A, SRD5A3, HSD17B10, ELOVL4, NDP, TMEM67, NPHP3, MKKS, CEP290, HSPD1, GCK, SLC25A13, MECP2, FBN1, PDSS1, ALDH18A1, TMEM70, PHKA2, XPNPEP3, PYGL, PHKG2, SLC25A12, GAMT, SPR, STXBP1, TUBA1A, DARS2, TUSC3, HAX1, GFM1, COG7, AP3B1, ALG12, ALG6, MPI, MYO7A, STRA6, D2HGDH, AIFM1, ACSL4, AMER1, SLC9A6, ABCD1, MMADHC, LMBRD1, GM2A, HEXB, SLC35C1, ACOX1, PAH, CTSA, GUSB, SGSH, MOCS2, NDUFA1, NDUFS1, NDUFAF5, CYB5R3, DBT, MANBA, MAN2B1, SUCLG1, ALDH4A1, SLC25A15, CBS, GBE1, GALE, GLYCTK, ASS1, CYP27A1, MGAT2, BBS9, SOX2, CLN3, PPOX, KIF21A, SLC6A8, MTFMT, PDHX, HPD, TSHR, FGFR3, AR, ARX, GBA, CDKL5, CHD7, DHCR7, DMD, FOXG1, IDS, KRAS, MEF2C, NPC1, NPC2, PCDH19, PLP1, PTPN11, RAI1, SLC2A1, TINF2, WDR62, FGFR2, HDAC8, TSC2, SYNGAP1, SMC1A, TSC1, NIPBL, ATM, NBN, CDKN1C, BRIP1, PRKAR1A, FKTN, PEX7, SGCA, SLC7A7, SACS, TH, MCOLN1, POMGNT1, PLA2G6, RAPSN, DPYD, TMEM216, MPZ, SPTLC1, ATL1, ZFYVE26, SCN1A, MAPT, AHI1, FKRP, NF1, FGFR1, KCNJ11, POU1F1, GHR, AVPR2, KIF5A, L1CAM, KIF1A, BIN1, DYNC1H1, POMT2, POMT1, SYT14, SIL1, GRM1, FGF14, LAMA2, LARGE1, ITGA7, MCPH1, ASPM, ATP1A2, CPA6, KCTD7, PRICKLE1, GRIN2B, KCNQ2, CHRNA4, GABRG2, GRIN2A, MBD5, TBC1D24, PIGO, PQBP1, TUBA8, PAFAH1B1, SRPX2, TUBB2B, MFSD8, ATP13A2, ST3GAL3, SCN8A, NRXN1, GRIN1, DYRK1A, PIGV, SPTAN1, SAMHD1, KCNJ10, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, FGD1, SYP, GRIA3, PAK3, KDM5C, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, ZEB2, VPS13B, GFAP, TBX1, LBR, SHANK3, SHANK2, ERCC2, ERCC3, SOX10, KIRREL3, FOXP1, EHMT1, AP1S2, ARID1B, CTNNB1, NLGN3, CANT1, PHF8, IGBP1, HUWE1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, USP9X, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RAB40AL, ZDHHC9, BRWD3, SLC16A2, SOX3, NSDHL, ARHGEF6, IL1RAPL1, TWIST1, NSUN2, TGIF1, ZIC2, PCNT, NAGA, FBN2, ABCC6, GNPTG, GLI3, GAN, LYST, SLC4A4, SDCCAG8, ERCC6, SMARCA4, SMARCB1, ARID1A, ADAR, AP4S1, AP4B1, AP4E1, AP4M1, KIF11, PGK1, LHX3, THRB, ALX4, EFNB1, GNPAT, CTC1, NHP2, GNAS, FANCG, ABCG5, SLX4, CP, SATB2, SLC6A4, RPGRIP1L, KIF7, CEP41, RBBP8, MYCN, VLDLR, ALG11, COG5, TMEM165, SLC46A1, TPK1, SLC20A2, MAT1A, APOB, SLC2A2, RFX6, DHCR24, MYO5A, INSR, ERCC8, STX11, G6PC3, NHEJ1, LIG4, STAT5B, GSS, TTC37, PIGL, HEPACAM, ZFP57, PDE4D, CCDC88C, MED17, CRADD, CACNG2, TECR, MED23, SOBP, CDH15, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, ORC1, WRN, SLC5A5, TBCE, ACY1, CAMTA1, ERCC5, UROC1, WDR81, BUB1B, AP1S1, AVP, NGF, HOXD10, FAM126A, TRHR, SLC5A2, GLRA1, IGF1, HDAC4, MRAP, IGF1R, AGT, IRX5, TMCO1, ZBTB16, FTO, CEP57, UPB1, KCNK9, DIP2B, GLUL, ZBTB24, SNIP1, XIST, AFP, TPH2, AQP7 Specificity 1 % Genes 50 %
Migraine NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. POLG, MECP2, GAMT, STXBP1, ALDH7A1, ARX, CDKL5, FOXG1, PCDH19, SLC2A1, PPT1, PHGDH, SCN1A, CACNA1A, ATP1A2, FOLR1, KCNQ2, PNPO Specificity 6 % Genes 50 %
Rett-Angelman Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, PNKP, TCF4, CNTNAP2, ATRX, OPHN1, ZEB2, CAV1, MED17, TRAPPC9 Specificity 6 % Genes 50 %
Nuclear-Mito NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...) View the complete list with 484 more genes Panel GTR000510915 complete gene list HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB, HLCS, ATP5F1E, ATP7B, ATP8B1, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, MMACHC, STAR, ELAC2, SDHAF2, ELN, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, KRT5, ABCB6, TRMU, CASP8, PYCR1, CLCN7, DTNBP1, WFS1, COMT, PRODH, HSD17B10, FOXC1, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GCK, GARS, AFG3L2, CYP11B1, FOXRED1, RRM2B, NDUFAF2, KIF1B, ALAS2, SLC25A13, MFN2, SDHC, PANK2, HADHA, OPA3, FH, MECP2, CYP11B2, MTO1, COQ9, PDSS2, PDSS1, COQ6, MRPL3, ACO2, NDUFA12, IDH3B, DHODH, HARS, LIAS, NDUFB3, GPD1, NDUFA9, COX14, AGK, ALDH18A1, DNM1L, DGUOK, BOLA3, ACSF3, GPX1, DIABLO, LDHB, PDHB, ALDH6A1, ACAT2, TMEM70, SARS2, NFU1, PCK2, NDUFAF1, HMGCL, HSD3B2, TTC19, MTPAP, XPNPEP3, TAT, NDUFA10, NUBPL, G6PC, CYP24A1, CYP11A1, SCP2, IDH2, KARS, SPTLC2, GPI, ABAT, GFER, TMEM126A, SLC25A12, LDHA, ENO3, GATM, SPR, COX4I2, RPL35A, SDHB, SUCLA2, CYCS, MRPS22, GYS1, RARS2, ACAD8, DARS2, SLC25A3, TUFM, TSFM, MRPS16, HTRA2, ALDH2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, SECISBP2, TK2, SLC25A22, GFM1, HADHB, PDP1, ATIC, UNG, NDUFA13, UCP2, COQ2, SPG7, GLUD1, PCCB, PCCA, HMGCS2, GCSH, GLDC, AMT, DMGDH, CISD2, TAP1, SCO2, GAD1, TYMP, ETHE1, UCP1, UCP3, PPARGC1B, RNASEL, D2HGDH, PUS1, AGPS, OTC, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, ACSL4, ABCD1, MMADHC, SUOX, ALDH5A1, ALDH3A2, SARDH, AK2, PHYH, ALDH7A1, CYP27B1, PGAM2, PTS, QDPR, PAH, AGXT, TCIRG1, OAT, NME1, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, CHAT, MOCS2, MOCS1, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, CYB5R3, CYB5A, HIBCH, DBT, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, ALDH4A1, SLC25A15, NAGS, L2HGDH, HK1, CYBA, ETFB, ETFA, ETFDH, GCDH, FXN, GLYCTK, LRPPRC, FASTKD2, COX6B1, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PRKN, APTX, SLC25A38, GLRX5, TPP1, CLN3, ANKRD26, SLC22A4, FECH, PPOX, OGG1, WWOX, MEN1, GPD2, CPOX, PNKD, AKAP10, PHB, TACO1, FARS2, HARS2, SLC6A8, MTFMT, PDHX, SDHA, SUGCT, MOGS, CPT1B, CFTR, CDKL5, FOXG1, DMPK, SLC2A1, SDHD, CLN6, CLN8, G6PD, CYBB, PEX2, PPT1, PEX7, SACS, PEX1, ABCC8, CLN5, GDAP1, SCN1A, CLCN1, SCN4A, ATXN7, CACNA1A, LRRK2, KCNJ11, PDX1, CLCNKB, SPAST, SPART, CACNA1S, RYR1, KCNJ2, KCNA1, TDP1, CHRNB2, KCNH2, SCN1B, SCN2A, FOLR1, KCNQ2, KCNQ3, CHRNA4, SCN5A, DNAJC5, MFSD8, CACNA2D1, NRXN1, SLC19A2, LARS2, KCNE1, KCNQ1, PEX6, NARS2, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, PKLR, UROS, CLCN2, ABCC9, ANK2, RYR2, KCNE2, RSPH9, TFAM, PGK1, GNPAT, GNAS, TXNRD2, IMMP2L, ACACB, TFB1M, MRRF, NDUFS5, MARS2, COX4I1, NDUFA8, NDUFA7, NDUFV3, NDUFB6, COX10, SCO1, EARS2, DDC, HADH, AKT2, IDH1, INSR, AKT1, TPI1, HOGA1, PREPL, MED23, CLCN5, AAAS, COQ4, PMPCA, COA5, SLC27A4, FTH1, PEX11B, NTHL1, GLRA1, NOS3, BCL2, PCK1, DECR1, ABCD3, GPX4, NDUFB9, MOCOS, DISC1, CDC42BPB, FASN, NDUFA4, COQ5, PARP1, TXN2, MTHFD1, TIMM44, HSPA9, BCAT2, BCAT1, ARMS2, ACHE, TOMM40, TPH2, MDH1, MTHFS, MTHFD1L, FPGS, SHMT1, H6PD, GAD2, GLO1, HIGD2A, HSPB7, HSD3B1, NDUFA6, GLS, ECSIT, ECI1, HK2, NDUFB1, ATP10D, DMAC2, ACSL5, ACSM3, AS3MT, PPARGC1A, PTGES2, POLRMT, RAB11FIP5, MAVS, LETM1, IMMT, IDE, NIPSNAP3A, CLYBL, CHDH, CNR1, SIRT5, SLC25A39, SIRT1, SIRT3, TST, TOP1MT, USP24, NIPSNAP1, CKM, NPL, MGLL, MGST3, AGXT2, AKR7A2, MTCH2, MRPL48, BAX, MAOB, DDAH1, COX7A2, ENO1, GPAM, FAAH, TSPO, KYNU, PARL, ACLY, NDUFC2, NLRX1, PACRG, PAK5, PNMT Specificity 1 % Genes 50 %
Hemiplegia/Stroke NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. POLG, OTC, SLC2A1, SCN1A, NOTCH3, CACNA1A, ATP1A2, ATP1A3, COL4A1, COL4A2 Specificity 10 % Genes 50 %
SLC2A1. By Fulgent Genetics Fulgent Genetics in United States. SLC2A1 Specificity 100 % Genes 50 %
Essential Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. UBE3A, ADSL, POLG, MECP2, GAMT, STXBP1, SLC25A22, SLC9A6, ALDH7A1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, SYNGAP1, TSC1, SCN1A, CHRNB2 , (...) View the complete list with 50 more genes Panel GTR000531690 complete gene list UBE3A, ADSL, POLG, MECP2, GAMT, STXBP1, SLC25A22, SLC9A6, ALDH7A1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, SYNGAP1, TSC1, SCN1A, CHRNB2, LGI1, GABRB3, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SLC35A2, FOLR1, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, PNPO, CHRNA2, CHRNA4, CHD2, GABRA1, GABRG2, GRIN2A, MBD5, ALG13, TBC1D24, DEPDC5, PRRT2, KCNA2, DNM1, SIK1, KCNB1, SZT2, GNAO1, ST3GAL3, ROGDI, SCN8A, NRXN1, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, ARHGEF9, ZEB2, TREX1, ACY1, MAPK10 Specificity 3 % Genes 100 %
Idiopathic Generalized Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. UBE3A, ADSL, HSD17B10, ME2, MECP2, STXBP1, SLC9A6, ALDH7A1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, PLP1, SLC2A1, SYNGAP1, SMC1A, GPC3, CSTB, SCN1A , (...) View the complete list with 69 more genes Panel GTR000531698 complete gene list UBE3A, ADSL, HSD17B10, ME2, MECP2, STXBP1, SLC9A6, ALDH7A1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, PLP1, SLC2A1, SYNGAP1, SMC1A, GPC3, CSTB, SCN1A, CACNA1A, CASR, DYNC1H1, CACNB4, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN9A, SCN1B, SCN2A, STX1B, GABRD, KCNT1, KCNQ2, KCNQ3, KCNC1, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, KCNMA1, SCARB2, TBC1D24, DEPDC5, PRRT2, DCX, PQBP1, SRPX2, DNAJC5, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, KCNJ10, TCF4, CNTNAP2, OFD1, ATRX, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, ZEB2, CLCN2, DHFR, CNTN2, NIPA2 Specificity 3 % Genes 100 %
Early-Onset Epileptic Encephalopathy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. UBE3A, AUH, ADSL, ADGRV1, POLG, MECP2, LIAS, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, SLC6A8 , (...) View the complete list with 113 more genes Panel GTR000531702 complete gene list UBE3A, AUH, ADSL, ADGRV1, POLG, MECP2, LIAS, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, SLC6A8, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, SYNGAP1, TSC1, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A, CACNA1A, DYNC1H1, CACNB4, ATP1A2, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, KCNH2, PRICKLE1, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, STX1B, SLC35A2, FOLR1, GABRB2, GABRD, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, SCN5A, ALG13, TBC1D24, DEPDC5, PRRT2, PIGO, BCKDK, ARFGEF2, QARS, SRPX2, CTSF, DNAJC5, MFSD8, RBFOX1, CACNA2D2, MAGI2, HNRNPU, EEF1A2, DNM1, SIK1, KCNB1, SLC13A5, NR2F1, SZT2, GNAO1, WDR45, ST3GAL3, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGV, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, IQSEC2, ARHGEF9, SYN1, ATP6AP2, ZEB2, CLCN4, NEDD4L, MTOR, KCNH5, ACY1, SLC12A5, TNK2, HCN2, ARHGEF15, KPNA7, RBFOX3 Specificity 2 % Genes 100 %
Comprehensive Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...) View the complete list with 427 more genes Panel GTR000531707 complete gene list MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67, NPHP1, ADGRV1, CEP290, SHH, ME2, DLD, POLG, NDUFS4, SLC25A19, PANK2, RAF1, FH, SMPD1, MECP2, COQ9, PDSS2, PDSS1, LIAS, BOLA3, TMEM70, ABAT, SLC25A12, DPM3, GAMT, GATM, STXBP1, COQ8A, RFT1, TUBA1A, RARS2, COG1, COG8, KCNV2, CTSD, SLC25A22, MPDU1, DPM1, COG7, ALG9, ATIC, ALG1, ALG8, ALG2, GRN, COQ2, ALG12, B4GALT1, GLUD1, GCSH, GLDC, AMT, SCO2, SLC35A1, ALG6, MPI, ALG3, PDHA1, SLC9A6, HEXA, SUOX, ALDH5A1, HEXB, SLC35C1, ALDH7A1, QDPR, CTSA, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFA1, NDUFS1, NDUFV1, GALC, ALDH4A1, SLC25A15, L2HGDH, ETFB, ETFA, ETFDH, GCDH, LRPPRC, MGAT2, PMM2, APTX, TPP1, CLN3, WWOX, TACO1, FARS2, SLC6A8, SDHA, AGA, ARSB, DOLK, DPAGT1, MOGS, HPD, FGFR3, ARSA, ASPA, ARX, BRAF, CDKL5, CHRNA7, DHCR7, EIF2B1, FOXG1, HRAS, IDS, IDUA, KRAS, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PTPN11, RAI1, SHOC2, SLC2A1, SOS1, WDR62, MAP2K2, TSC2, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, PTCH1, GPC3, CLN6, CLN8, FKTN, PEX2, PPT1, PEX7, MLC1, MCOLN1, PEX1, POMGNT1, SLC17A5, SUMF1, ABCC8, CLN5, EIF2B5, PLA2G6, DPYD, TMEM216, EIF2B3, EIF2B2, EIF2B4, CSTB, SCN1A, AHI1, NOTCH3, FKRP, SCN4A, CACNA1A, NF1, KCNJ11, FGF8, CASR, CLCNKB, KCNJ1, DYNC1H1, VRK1, POMT2, POMT1, KCNA1, CACNB4, SLC1A3, LAMA2, DPM2, LARGE1, MCPH1, ASPM, ATP1A2, CACNA1H, CHRNB2, CPA6, EFHC1, CRH, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, KCNH2, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, STX1B, SLC35A2, SLC6A1, FOLR1, GABRB2, GABRD, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, HCN4, MBD5, KCNMA1, SCARB2, SCN5A, SLC4A10, ALG13, TBC1D24, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK, COL4A1, ARFGEF2, CENPJ, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, CTSF, DNAJC5, MFSD8, ATP13A2, KMT2D, RBFOX1, CACNA2D2, MAGI2, HNRNPU, TBL1XR1, EEF1A2, KCNA2, DNM1, SIK1, SNAP25, PURA, KCNB1, SLC13A5, DOCK7, NR2F1, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGV, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, SERPINI1, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, VPS13A, TBX1, LBR, ATP2A2, PEX6, FUCA1, NTNG1, MED12, PEX14, PEX3, PEX26, PEX12, PEX5, KAT6B, CLCNKA, NEU1, UBE2A, CLCN4, SPRED1, CCL2, CLCN2, NEDD4L, MTOR, VANGL1, TSEN34, TSEN2, TUBB2A, TGIF1, ZIC2, CEP152, ABCB1, NODAL, CDON, GLI2, CDK5RAP2, FLVCR2, PCNT, ATR, GNPTG, GLI3, SCN2B, SCN3B, SCN4B, KDM6A, SMARCA2, ADAR, PGK1, RPGRIP1L, ARL13B, COX10, SLC46A1, AKT3, NHEJ1, LIG4, ASNS, SNAP29, CCDC88C, MED17, ANK3, C12orf57, KCNH5, ACY1, COL18A1, MAPK10, BUB1B, SCN10A, DHFR, GLRB, GLRA1, SLC6A5, HDAC4, SLC12A5, GPHN, SRGAP2, TNK2, HCN2, GABBR2, RYR3, FASN, PIK3AP1, ARHGEF15, CNTN2, KPNA7, RBFOX3, BRD2, VDAC1, UBR5, NIPA2, CELSR1, EFHC2, RANGAP1, KCNAB2, HNRNPH1 Specificity 1 % Genes 100 %
Ataxia Panel. By Blueprint Genetics in Finland. FMR1, ABHD12, TWNK, PRKCG, PAX6, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, POLG, NDUFS4, AFG3L2 , (...) View the complete list with 137 more genes Panel GTR000552801 complete gene list FMR1, ABHD12, TWNK, PRKCG, PAX6, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, POLG, NDUFS4, AFG3L2, ACO2, TTC19, MTPAP, NUBPL, COQ8A, DNAJC19, FLVCR1, SPG7, ABCB7, SLC9A6, ALDH5A1, PHYH, NDUFS8, NDUFS7, NDUFAF6, NDUFV1, NDUFS2, HIBCH, FXN, LRPPRC, CYP27A1, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, TPP1, WWOX, PNKD, HARS2, MTFMT, SLC2A1, ATM, MRE11, MTTP, PEX7, SACS, TTPA, CLN5, TMEM216, ZFYVE26, CSTB, AHI1, PPP2R2B, CACNA1A, PNPLA6, FA2H, SETX, SYNE1, KCNA1, CACNB4, SLC1A3, SYT14, ANO10, TDP1, SIL1, GRM1, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2, ATP1A3, GOSR2, PRRT2, PNKP, KCNJ10, OFD1, OPHN1, CASK, GFAP, CLPP, DNMT1, LARS2, TMEM231, CLCN2, MME, FBXL4, WDPCP, CAPN1, KIF1C, TUBB4A, GBA2, CYP2U1, CP, COASY, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, VLDLR, MARS2, SLC20A2, GSS, SLC25A46, TCTN3, ZNF423, CCDC88C, CA8, COX20, SERAC1, UBA5, ATP8A2, CAMTA1, BEAN1, ATCAY, EBF3, SLC52A2, LAMA1, GRID2, NOL3, ELOVL5, RNF216, STUB1, ITM2B, LMNB1, RUBCN, WDR81, SNX14, TMEM240, CWF19L1, FDXR Specificity 2 % Genes 100 %
Comprehensive Metabolism Panel. By Blueprint Genetics in Finland. HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...) View the complete list with 414 more genes Panel GTR000552745 complete gene list HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, GAA, ADSL, HNF1A, MMACHC, PPARG, COL2A1, AMN, HNF1B, MTR, SLC37A4, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, WFS1, PSAP, GNPTAB, GLB1, PRODH, ATP6V0A2, SRD5A3, GNE, HSD17B10, HPRT1, DLD, POLG, SLC25A4, GCK, FOXRED1, RRM2B, NDUFAF2, ALAS2, SLC25A13, MFN2, HADHA, OPA3, FH, SMPD1, COQ9, PDSS2, PDSS1, COQ6, DHODH, DDOST, LIAS, AGK, DNM1L, DGUOK, BOLA3, ACSF3, PDHB, TMEM70, DHDDS, SARS2, NFU1, PHKA2, FAH, HMGCL, TAT, PYGL, G6PC, IDH2, CAVIN1, PHKG2, TMEM126A, DPM3, PGM1, LDHA, ENO3, GAMT, GATM, SUCLA2, COQ8A, RFT1, GYS1, ACAD8, COG1, COG8, TUSC3, SLC25A3, PNPLA2, POLG2, CTSD, ACADSB, TK2, MPDU1, GFM1, HADHB, DPM1, COG7, ALG9, ATIC, ALG1, ALG8, ALG2, UCP2, COQ2, SPG7, ALG12, B4GALT1, GLUD1, PCCB, PCCA, HMGCS2, GCSH, GLDC, AMT, SLC35A1, ALG6, TYMP, MPI, ALG3, D2HGDH, AGPS, OTC, PDHA1, TIMM8A, TAZ, PHKA1, ABCD1, XDH, MMADHC, LMBRD1, TCN2, HEXA, GM2A, SUOX, ALDH5A1, HEXB, LPIN1, PHYH, SLC35C1, NT5C3A, ALDH7A1, CTSK, ACOX1, PHKB, PGAM2, PTS, QDPR, PAH, CUBN, GIF, AGXT, OAT, MPV17, CTSA, ISCU, CPT1A, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFS1, MCEE, MMAB, MMAA, MUT, HIBCH, DBT, MANBA, MAN2B1, MLYCD, SUCLG1, GALC, OXCT1, IVD, SLC25A15, NAGS, L2HGDH, CBS, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, SLC3A1, ASS1, SLC22A5, SLC25A20, MGAT2, PMM2, APTX, ASL, GLRX5, TPP1, CLN3, FECH, PPOX, CPOX, SLC6A8, PDHX, ABCD4, ADA, AGA, AHCY, APRT, ARSB, SUGCT, DOLK, DPAGT1, MOGS, GNMT, HPD, PNP, ARSA, ASPA, GBA, DHCR7, GLA, HRAS, IDS, IDUA, LIPA, NPC1, NPC2, RAI1, SLC2A1, GPC3, CLN6, CLN8, FKTN, CTNS, PEX2, PPT1, PEX7, SERPINA1, SLC7A7, MCOLN1, PEX1, SLC17A5, SUMF1, ABCC8, CLN5, DPYD, LMNA, CLCN1, FKRP, CAV3, DYSF, SCN4A, GCH1, KCNJ11, CASR, PDX1, HNF4A, UMOD, SLC12A3, BSND, CLCNKB, ANO5, MYOT, LDB3, BSCL2, CACNA1S, RYR1, KCNJ2, KCNA1, ANO10, LAMA2, DPM2, NHLRC1, SLC35A2, FOLR1, EPM2A, ALG13, ASAH1, FLNA, MFSD8, ATP13A2, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, COL11A2, PRPS1, PEX6, FUCA1, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, UROS, NEU1, SEC23B, HCFC1, LAMP2, MAGT1, EBP, NAGA, HYAL1, CTSC, ADAMTSL2, ANTXR2, DYM, GNPTG, CNNM4, CAV1, PRKAG2, FBXL4, AMPD1, MYH3, ZMPSTE24, IFIH1, ADAR, PGK1, CD320, GNPAT, TRIM37, NBAS, COG4, ALG11, COG6, COG5, TMEM165, SLC46A1, PCBD1, HADH, SLC2A2, AKT2, PTF1A, B3GLCT, TPMT, INSR, SLC39A4, SLC40A1, SI, TFR2, HAMP, HJV, LIPE, TBC1D4, PLIN1, AGPAT2, REN, SLC25A1, MAN1B1, FAM111A, SERAC1, CLPB, LIPT1, ECHS1, SLC30A10, ACY1, SLC6A19, COQ4, RBCK1, CLDN16, CLDN19, FLNB, PEPD, GYG1, PEX11B, SLC7A9, FXYD2, UMPS, HGD, LCT, FMO3, SLC5A1, UROD, TRPM6, HMBS, PCK1, GPHN, CNNM2, SSR4, EGF, NGLY1, STT3B, STT3A, ABCD3, ALAD, UPB1, DPYS, CTH, FLAD1, MOCOS, COQ7, COQ5, TANGO2, GMPPA, ADK, SLC25A26, SLC6A9, GLUL, NIPA2, PRKAG3 Specificity 1 % Genes 50 %
Metabolic Epilepsy Panel. By Blueprint Genetics in Finland. MTHFR, ARG1, BTD, ADSL, PRODH, GNE, POLG, FH, DNM1L, ABAT, GAMT, GLDC, AMT, ETHE1, D2HGDH, SUOX, ALDH5A1, ALDH7A1, PTS, QDPR , (...) View the complete list with 21 more genes Panel GTR000552746 complete gene list MTHFR, ARG1, BTD, ADSL, PRODH, GNE, POLG, FH, DNM1L, ABAT, GAMT, GLDC, AMT, ETHE1, D2HGDH, SUOX, ALDH5A1, ALDH7A1, PTS, QDPR, MOCS1, HIBCH, SLC25A15, L2HGDH, ETFB, ETFA, ETFDH, GCDH, AGA, SLC2A1, DPYD, GCH1, PNPO, PGK1, SLC46A1, SLC25A1, SERAC1, DHFR, GPHN, DPYS, SLC39A8 Specificity 3 % Genes 50 %
Epileptic Encephalopathy Panel. By Blueprint Genetics in Finland. HTT, MTHFR, UBE3A, ADSL, CPT2, POLG, NDUFS4, MECP2, DNM1L, TTC19, NUBPL, ABAT, GAMT, STXBP1, SLC25A22, GLDC, AMT, ETHE1, D2HGDH, SLC9A6 , (...) View the complete list with 108 more genes Panel GTR000552752 complete gene list HTT, MTHFR, UBE3A, ADSL, CPT2, POLG, NDUFS4, MECP2, DNM1L, TTC19, NUBPL, ABAT, GAMT, STXBP1, SLC25A22, GLDC, AMT, ETHE1, D2HGDH, SLC9A6, ALDH7A1, NDUFS8, NDUFS7, NDUFAF6, MOCS1, SDHAF1, NDUFV1, NDUFS2, HIBCH, LRPPRC, COX6B1, WWOX, FARS2, SLC6A8, MTFMT, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, SYNGAP1, TSC1, SCN1A, CACNA1A, KIF1A, GABRB3, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, SLC35A2, GABRB2, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, PNPO, CHD2, GABRA1, GABRG2, GRIN2A, MBD5, ALG13, TBC1D24, BRAT1, DCX, FLNA, HNRNPU, EEF1A2, KCNA2, DNM1, SIK1, SNAP25, PURA, KCNB1, SLC13A5, DOCK7, SZT2, GNAO1, WDR45, ST3GAL3, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2B, CNTNAP2, ARHGEF9, SYN1, CASK, ZEB2, TREX1, CLCN4, NECAP1, ADAR, SCO1, HEPACAM, ASNS, SLC25A1, TBCE, SERAC1, TBCD, UBA5, ECHS1, FGF12, APOPT1, SLC12A5, GPHN, FAR1, UNC80, NACC1, LYRM7, HECW2, GTPBP3, MRPL44, RMND1, TBCK Specificity 1 % Genes 50 %
Migraine Panel. By Blueprint Genetics in Finland. POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, SLC1A3, ATP1A2, ATP1A3, PRRT2, KCNK18 Specificity 20 % Genes 100 %
Comprehensive Epilepsy Panel. By Blueprint Genetics in Finland. HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...) View the complete list with 263 more genes Panel GTR000552774 complete gene list HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2, DNM1L, NFU1, TTC19, NUBPL, ABAT, GAMT, STXBP1, DARS2, CTSD, SLC25A22, GFM1, GRN, GLDC, AMT, ETHE1, D2HGDH, AIFM1, SLC9A6, ABCD1, SUOX, ALDH5A1, ALDH3A2, ALDH7A1, PTS, QDPR, COX15, NDUFS8, NDUFS7, NDUFAF6, MOCS1, SDHAF1, NDUFV1, NDUFS2, NDUFAF5, HIBCH, GALC, SLC25A15, L2HGDH, ETFB, ETFA, ETFDH, GCDH, LRPPRC, COX6B1, CYP27A1, TPP1, CLN3, WWOX, FARS2, SLC6A8, MTFMT, AGA, ARSA, ASPA, ARX, CDKL5, EIF2B1, FOXG1, GJC2, MEF2C, PCDH19, PLP1, SLC2A1, TSC2, SYNGAP1, TSC1, CLN6, CLN8, PPT1, MLC1, SUMF1, CLN5, EIF2B5, DPYD, ZFYVE26, EIF2B3, EIF2B2, EIF2B4, CSTB, SCN1A, NOTCH3, CACNA1A, GCH1, CASR, KIF1A, FA2H, KCNA1, CACNB4, ATP1A3, CACNA1H, CHRNB2, EFHC1, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, STX1B, SLC35A2, SLC6A1, FOLR1, GABRB2, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, ALG13, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, BRAT1, PIGO, COL4A1, DCX, RELN, FLNA, CTSF, DNAJC5, MFSD8, ATP13A2, MAGI2, HNRNPU, TBL1XR1, SPATA5, EEF1A2, KCNA2, DNM1, SIK1, SNAP25, PURA, KCNB1, SLC13A5, DOCK7, SZT2, GNAO1, WDR45, ST3GAL3, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, PIGN, PIGV, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, SERPINI1, OFD1, SMS, ATRX, IQSEC2, PHF6, GRIA3, ARHGEF9, KDM5C, SYN1, OPHN1, CASK, CUL4B, RAB39B, ZEB2, TREX1, GFAP, VPS13A, HTRA1, SOX10, MED12, NEU1, UBE2A, TAF1, CLCN4, NECAP1, CLCN2, MTOR, HACE1, TUBB4A, ADAR, AP4S1, AP4B1, AP4E1, AP4M1, PGK1, RNASET2, CTC1, MARS2, SCO1, CSF1R, SLC46A1, EARS2, DDC, HEPACAM, ASNS, IBA57, SLC25A1, GRIK2, CC2D1A, PYCR2, TBCE, SERAC1, TBCD, UBA5, GNB1, ECHS1, RARS, RNF216, FGF12, LMNB1, POLR3A, POLR3B, APOPT1, CERS1, FAM126A, DHFR, GLRB, SLC12A5, PIGT, GPHN, ECM1, AIMP1, FAR1, UNC80, DPYS, NACC1, KCNH1, DARS, LYRM7, WDR26, HECW2, GTPBP3, MRPL44, RMND1, TBCK, YY1, SLC39A8, SNORD118 Specificity 1 % Genes 100 %
Idiopathic Generalized and Focal Epilepsy Panel. By Blueprint Genetics in Finland. AMACR, POLG, ALDH7A1, SLC2A1, SCN1A, CASR, KCNA1, CACNB4, CACNA1H, CHRNB2, EFHC1, LGI1, GABRB3, SCN9A, SCN1B, SCN2A, STX1B, SLC6A1, KCNT1, KCNQ2 , (...) View the complete list with 14 more genes Panel GTR000552780 complete gene list AMACR, POLG, ALDH7A1, SLC2A1, SCN1A, CASR, KCNA1, CACNB4, CACNA1H, CHRNB2, EFHC1, LGI1, GABRB3, SCN9A, SCN1B, SCN2A, STX1B, SLC6A1, KCNT1, KCNQ2, KCNQ3, KCNC1, CHRNA2, CHRNA4, GABRA1, GABRG2, GRIN2A, TBC1D24, DEPDC5, PRRT2, RELN, SCN8A, CLCN2, MTOR Specificity 6 % Genes 100 %
Congenital Mono- and Disaccharide Disorders Panel. By Blueprint Genetics in Finland. ALDOB, GALT, GALE, GALK1, SLC2A1, SLC2A2, SI, LCT, SLC5A1 Specificity 12 % Genes 50 %
Dystonia Panel. By Blueprint Genetics in Finland. SPR, PNKD, SLC2A1, TH, TOR1A, THAP1, GCH1, SGCE, FA2H, ATP1A3, PRRT2, DCAF17, PRKRA, PDGFRB, PDGFB, KMT2B, ANO3, BCAP31, GNAL, ADCY5 Specificity 10 % Genes 100 %
Paroxysmal exertion-induced dyskinesia. By Bioarray in Spain. SLC2A1 Specificity 100 % Genes 50 %
Dystonia 9. By Bioarray in Spain. SLC2A1 Specificity 100 % Genes 50 %
SLC2A1 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. SLC2A1 Specificity 100 % Genes 50 %
Rapid microarray (CGH and SNP). By Allele Diagnostics Allele Diagnostics in United States. FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...) View the complete list with 153 more genes Panel GTR000525320 complete gene list FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL, PITX2, JAG1, NDP, HPRT1, NPHP1, ADGRV1, SHH, MECP2, FBN1, SDHB, STXBP1, TUSC3, OTC, HCCS, GK, TIMM8A, AMER1, BCOR, SLC3A1, APTX, SOX2, LMX1B, AR, ARSA, CDKL5, CHD7, CREBBP, DMD, FOXG1, GJB6, MEF2C, PCDH19, PLP1, PORCN, RAI1, RPS19, RUNX2, SLC2A1, SRY, TSC2, SYNGAP1, TSC1, NIPBL, NSD1, PTCH1, NF2, STK11, SDHD, GPC3, BMPR1A, SMAD4, ENG, CTNS, CYBB, ABCC8, BTK, PMP22, SCN1A, GCH1, NF1, SGCE, NR0B1, SHOX, ANOS1, GHR, COL4A5, PKD1, MTM1, EMD, LARGE1, SCN2A, KCNQ2, MBD5, DCX, SIX3, PAFAH1B1, ADGRG1, KRIT1, CCM2, PDCD10, MAGI2, NRXN1, TCF4, CNTNAP2, FGD1, GRIA3, OPHN1, CASK, ZEB2, VPS13B, TBX1, SHANK2, SALL1, COL4A6, PAX3, EDNRB, SOX10, FGF3, GATA3, OTOA, MID1, FOXP2, FOXP1, EHMT1, PHF8, FTSJ1, SOX3, NSDHL, IL1RAPL1, MSX2, TWIST1, SOX9, TGIF1, ZIC2, GLI3, MITF, ACVRL1, DOCK8, NKX2-5, SH2D1A, NR5A1, KCNQ1OT1, LHX4, ALX4, SALL4, TBX5, EFNB1, F9, F8, ZIC3, MYCN, VLDLR, EXT2, XK, EDA, NFIA, MNX1, CCNQ, IRF6, ARSE, MAMLD1, PREPL, FLI1, GRIK2, STS, TRPS1, HDAC4, TBX3, YWHAE, FBXW4, IGF2, SEM1, CRK Specificity 1 % Genes 50 %
High-Resolution Rapid Microarray (CGH and SNP). By Allele Diagnostics Allele Diagnostics in United States. FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...) View the complete list with 153 more genes Panel GTR000560671 complete gene list FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL, PITX2, JAG1, NDP, HPRT1, NPHP1, ADGRV1, SHH, MECP2, FBN1, SDHB, STXBP1, TUSC3, OTC, HCCS, GK, TIMM8A, AMER1, BCOR, SLC3A1, APTX, SOX2, LMX1B, AR, ARSA, CDKL5, CHD7, CREBBP, DMD, FOXG1, GJB6, MEF2C, PCDH19, PLP1, PORCN, RAI1, RPS19, RUNX2, SLC2A1, SRY, TSC2, SYNGAP1, TSC1, NIPBL, NSD1, PTCH1, NF2, STK11, SDHD, GPC3, BMPR1A, SMAD4, ENG, CTNS, CYBB, ABCC8, BTK, PMP22, SCN1A, GCH1, NF1, SGCE, NR0B1, SHOX, ANOS1, GHR, COL4A5, PKD1, MTM1, EMD, LARGE1, SCN2A, KCNQ2, MBD5, DCX, SIX3, PAFAH1B1, ADGRG1, KRIT1, CCM2, PDCD10, MAGI2, NRXN1, TCF4, CNTNAP2, FGD1, GRIA3, OPHN1, CASK, ZEB2, VPS13B, TBX1, SHANK2, SALL1, COL4A6, PAX3, EDNRB, SOX10, FGF3, GATA3, OTOA, MID1, FOXP2, FOXP1, EHMT1, PHF8, FTSJ1, SOX3, NSDHL, IL1RAPL1, MSX2, TWIST1, SOX9, TGIF1, ZIC2, GLI3, MITF, ACVRL1, DOCK8, NKX2-5, SH2D1A, NR5A1, KCNQ1OT1, LHX4, ALX4, SALL4, TBX5, EFNB1, F9, F8, ZIC3, MYCN, VLDLR, EXT2, XK, EDA, NFIA, MNX1, CCNQ, IRF6, ARSE, MAMLD1, PREPL, FLI1, GRIK2, STS, TRPS1, HDAC4, TBX3, YWHAE, FBXW4, IGF2, SEM1, CRK Specificity 1 % Genes 50 %
GLUT1 DEFICIENCY SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. SLC2A1 Specificity 100 % Genes 50 %
Dystonia 9. By LifeLabs Genetics in Canada. SLC2A1 Specificity 100 % Genes 50 %
Dystonia type 18. By LifeLabs Genetics in Canada. SLC2A1 Specificity 100 % Genes 50 %
Epilepsy, idiopathic generalized type 12. By LifeLabs Genetics in Canada. SLC2A1 Specificity 100 % Genes 50 %
Glucose Transporter (GLUT1) Deficiency Syndrome, Sequencing SLC2A1 Gene. By Reference Laboratory Genetics in Spain. SLC2A1 Specificity 100 % Genes 50 %
Glucose Transporter (GLUT1) Deficiency Syndrome , Sequencing Exon 4 SLC2A1 Gene. By Reference Laboratory Genetics in Spain. SLC2A1 Specificity 100 % Genes 50 %
Glucose Transporter (GLUT1) Deficiency Syndrome , Deletions-Duplications (MLPA) SLC2A1 Gene. By Reference Laboratory Genetics in Spain. SLC2A1 Specificity 100 % Genes 50 %
Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes. By Reference Laboratory Genetics in Spain. PANK2, SPR, PRKN, SLC2A1, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, ATP1A3, TAF1, PRKRA Specificity 8 % Genes 50 %
Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes. By Reference Laboratory Genetics in Spain. STXBP1, ALDH7A1, ARX, CDKL5, PCDH19, SLC2A1, SCN1A, CACNA1A, KCNA1, CACNB4, ATP1A2, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, NHLRC1, SCN9A, SCN1B , (...) View the complete list with 14 more genes Panel GTR000559546 complete gene list STXBP1, ALDH7A1, ARX, CDKL5, PCDH19, SLC2A1, SCN1A, CACNA1A, KCNA1, CACNB4, ATP1A2, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, NHLRC1, SCN9A, SCN1B, SCN2A, GABRD, KCNQ2, KCNQ3, CHRNA2, CHRNA4, EPM2A, GABRA1, GABRG2, KCNMA1, PRRT2, SRPX2, SCN8A, CLCN2 Specificity 6 % Genes 100 %
Familial Hemiplegic Migraine , Panel Massive Sequencing (NGS) 6 Genes. By Reference Laboratory Genetics in Spain. POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, ATP1A2 Specificity 17 % Genes 50 %
PRRT2 (Dyskinesia/IC) Sequencing Test. By Athena Diagnostics Inc in United States. PRRT2 Specificity 100 % Genes 50 %
EpiFirst-Fever. By Ambry Genetics in United States. STXBP1, PCDH19, SCN1A, GABRB3, SCN1B, SCN2A, STX1B, HCN1, CHD2, GABRA1, GABRG2, PRRT2, SCN8A Specificity 8 % Genes 50 %
EpiFirst-Focal. By Ambry Genetics in United States. SCN1A, CHRNB2, CRH, LGI1, SCN1B, KCNT1, CHRNA2, CHRNA4, GRIN2A, DEPDC5, PRRT2 Specificity 10 % Genes 50 %
Familial Hemiplegic Migraine Panel. By Ambry Genetics in United States. SCN1A, CACNA1A, ATP1A2, PRRT2 Specificity 25 % Genes 50 %
PRRT2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PRRT2 Specificity 100 % Genes 50 %
PRRT2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PRRT2 Specificity 100 % Genes 50 %
SCN2A, PRRT2, KCNQ2, KCNQ3. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SCN2A, PRRT2 Specificity 50 % Genes 50 %
SCN2A, PRRT2, KCNQ2, KCNQ3. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KCNQ2, PRRT2 Specificity 50 % Genes 50 %
Episodic kinesigenic dyskinesia 1 (sequence analysis of PRRT2 gene). By CGC Genetics in Portugal. PRRT2 Specificity 100 % Genes 50 %
Episodic kinesigenic dyskinesia (deletion/duplication analysis of PRRT2 gene). By CGC Genetics in Portugal. PRRT2 Specificity 100 % Genes 50 %
Episodic kinesigenic dyskinesia (deletion/duplication analysis of PRRT2 gene). By CGC Genetics in Portugal. PRRT2 Specificity 100 % Genes 50 %
Hemiplegic Migraine and PRRT2-Related Disorders via PRRT2 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PRRT2 Specificity 100 % Genes 50 %
Familial Hemiplegic Migraine Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SCN1A, CACNA1A, ATP1A2, PRRT2 Specificity 25 % Genes 50 %
Familial Paroxysmal Kinesigenic Dyskinesia. By MGZ Medical Genetics Center in Germany. PRRT2 Specificity 100 % Genes 50 %
Benign Familial Infantile Seizures 2. By MGZ Medical Genetics Center in Germany. PRRT2 Specificity 100 % Genes 50 %
Familial Infantile Convulsions with Paroxysmal Choreoathetosis. By MGZ Medical Genetics Center in Germany. PRRT2 Specificity 100 % Genes 50 %
Benign Familial Neonatal / Infantile Seizures (BFNS/BFIS). By MGZ Medical Genetics Center in Germany. SCN2A, KCNQ2, KCNQ3, PRRT2 Specificity 25 % Genes 50 %
Benign neonatal/infantile convulsions panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. SCN2A, KCNQ2, KCNQ3, TBC1D24, PRRT2 Specificity 20 % Genes 50 %
DYT10 - Paroxysmal kinesigenic dyskinesia. By Centogene AG - the Rare Disease Company in Germany. PRRT2 Specificity 100 % Genes 50 %
Ataxia and differential diagnoses Panel. By CeGaT GmbH in Germany. FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...) View the complete list with 184 more genes Panel GTR000522481 complete gene list FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290, POLG, AFG3L2, OPA3, COQ9, PDSS2, PDSS1, ACO2, TTC19, MTPAP, NUBPL, SPR, COQ8A, DARS2, TSFM, DNAJC19, FLVCR1, PDP1, COQ2, SPG7, ALG6, ABCB7, HEXA, ALDH5A1, HEXB, PHYH, NDUFS7, NAGLU, DLAT, GALC, L2HGDH, GCDH, FXN, FASTKD2, CYP27A1, PMM2, APTX, TPP1, WWOX, PDHX, ARSA, GBA, EIF2B1, NPC1, NPC2, ATXN1, ATM, MRE11, CLN6, MTTP, PEX2, PEX7, SACS, SLC17A5, TTPA, CLN5, EIF2B5, PLA2G6, TMEM216, GJB1, EIF2B3, EIF2B2, EIF2B4, CSTB, AHI1, PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN7, CACNA1A, TBP, ATN1, BSCL2, PNPLA6, SETX, VRK1, SYNE1, TRAPPC11, KCNA1, CACNB4, SLC1A3, SYT14, ANO10, TDP1, SIL1, GRM1, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2, ATP1A3, GOSR2, NHLRC1, PRICKLE1, SLC19A3, SCN2A, SLC6A1, FOLR1, HCN1, KCNC1, EPM2A, LMNB2, PRRT2, RELN, TSEN54, ADGRG1, CTSF, DNAJC5, KCNA2, SNAP25, PNKP, KCNJ10, GFAP, ERCC2, ERCC3, POLR1C, DNMT1, PRPS1, PEX10, NEU1, CLCN2, NALCN, NKX2-1, GMPPB, ERCC6, KIF1C, UCHL1, GBA2, WNT1, CP, ERCC4, RPGRIP1L, ARL13B, VLDLR, MARS2, DNAJC3, CCDC88C, CA8, COX20, UBA5, RARS, ATP8A2, ATP2B3, CACNA1G, BEAN1, ATCAY, SLC52A2, LAMA1, GRID2, PIK3R5, PCNA, DMXL2, PTRH2, ELOVL5, RNASEH1, RNF216, SCYL1, ERCC5, STUB1, SLC9A1, RUBCN, PMPCA, TRNT1, XPA, WDR81, POLR3A, POLR3B, RNF170, CHCHD10, SNX14, TMEM240, WDR73, CWF19L1, VWA3B, XPC, NOP56, POLH, RPIA Specificity 1 % Genes 50 %
Single gene testing PRRT2. By CeGaT GmbH in Germany. PRRT2 Specificity 100 % Genes 50 %
Epilepsy. By Asper Biogene Asper Biogene LLC in Estonia. UBE3A, MCCC1, ADSL, TUBB3, POLG, MECP2, GAMT, GATM, STXBP1, SLC25A22, ALG3, SLC9A6, ALDH7A1, MOCS2, MOCS1, WWOX, SLC6A8, ARX, CDKL5, FOXG1 , (...) View the complete list with 104 more genes Panel GTR000551668 complete gene list UBE3A, MCCC1, ADSL, TUBB3, POLG, MECP2, GAMT, GATM, STXBP1, SLC25A22, ALG3, SLC9A6, ALDH7A1, MOCS2, MOCS1, WWOX, SLC6A8, ARX, CDKL5, FOXG1, MEF2C, PCDH19, TSC2, SYNGAP1, TSC1, SLC35A3, CSTB, SCN1A, CACNA1A, KIF1A, DYNC1H1, KCNA1, ATP1A2, ATP1A3, CACNA1H, CHRNB2, CPA6, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, ST3GAL5, SCN1B, SCN2A, STX1B, SLC35A2, SLC6A1, GABRD, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, KCNMA1, SCARB2, ALG13, TBC1D24, DEPDC5, PRRT2, BRAT1, PIGO, DCX, RELN, FLNA, SRPX2, SPATA5, EEF1A2, KCNA2, DNM1, SIK1, PURA, KCNB1, SLC13A5, DOCK7, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, PLCB1, SPTAN1, PNKP, TCF4, SERPINI1, ATRX, IQSEC2, SYP, ARHGEF9, SYN1, ATP6AP2, CASK, CACNA1D, HUWE1, ZDHHC9, NECAP1, MTOR, AARS, SMARCA2, ADAR, KIF5C, FGF12, CERS1, SLC12A5, PIGT, GPHN, ITPA, SNIP1 Specificity 1 % Genes 50 %
Convulsions, familial infantile with paroxysmal choreoathetosis. By Praxis fuer Humangenetik Wien in Austria. PRRT2 Specificity 100 % Genes 50 %
Dyskinesia episodic kinesigenic 1. By Praxis fuer Humangenetik Wien in Austria. PRRT2 Specificity 100 % Genes 50 %
Seizures, benign familial infantile 2. By Praxis fuer Humangenetik Wien in Austria. PRRT2 Specificity 100 % Genes 50 %
Convulsions, familial infantile with paroxysmal choreoathetosis. By MedGene in Slovakia. PRRT2 Specificity 100 % Genes 50 %
Dyskinesia episodic kinesigenic 1. By MedGene in Slovakia. PRRT2 Specificity 100 % Genes 50 %
Seizures, benign familial infantile 2. By MedGene in Slovakia. PRRT2 Specificity 100 % Genes 50 %
Paroxysmal kinesigenic dyskinesia: PRRT2 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PRRT2 Specificity 100 % Genes 50 %
Dystonia Dyskinesia NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. SCP2, SPR, PNKD, TOR1A, THAP1, SGCE, ATP1A3, PRRT2, TAF1, DRD5, MR1, DRD2, SLC6A3, PRKRA Specificity 8 % Genes 50 %
PRRT2. By Fulgent Genetics Fulgent Genetics in United States. PRRT2 Specificity 100 % Genes 50 %
Seizures, benign neonatal, 1. By Bioarray in Spain. PRRT2 Specificity 100 % Genes 50 %
Paroxysmal kinesigenic dyskinesia. By Bioarray in Spain. PRRT2 Specificity 100 % Genes 50 %
PRRT2 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. PRRT2 Specificity 100 % Genes 50 %
BENIGN FAMILIAL INFANTILE EPILEPSY. By Laboratorio de Genetica Clinica SL in Spain. SCN2A, KCNQ2, KCNQ3, PRRT2 Specificity 25 % Genes 50 %
PAROXYSMAL KINESIGENIC DYSKINESIA. By Laboratorio de Genetica Clinica SL in Spain. PRRT2 Specificity 100 % Genes 50 %
Dystonia 10. By LifeLabs Genetics in Canada. PRRT2 Specificity 100 % Genes 50 %
Paroxysmal Kinesigenic Dyskinesia , Sequencing PRRT2 Gene. By Reference Laboratory Genetics in Spain. PRRT2 Specificity 100 % Genes 50 %
Benign Familial Neonatal Infantile Seizures , Panel Massive Sequencing (NGS) 4 Genes. By Reference Laboratory Genetics in Spain. SCN2A, KCNQ2, KCNQ3, PRRT2 Specificity 25 % Genes 50 %

Alternate names

Glut1 Deficiency Syndrome 2; Glut1ds2 Is also known as paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia, ped with or without epilepsy and/or hemolytic anemia, paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia, dystonia 18;dyt18;dyt18; dystonia 18; ped.

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