Frontotemporal Dementia And/or Amyotrophic Lateral Sclerosis 1; Ftdals1

Description

Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) is an autosomal dominant neurodegenerative disorder characterized by adult onset of one or both of these features in an affected individual, with significant intrafamilial variation. The disorder is genetically and pathologically heterogeneous (summary by Vance et al., 2006). Patients with C9ORF72 repeat expansions tend to show a lower age of onset, shorter survival, bulbar symptom onset, increased incidence of neurodegenerative disease in relatives, and a propensity toward psychosis or hallucinations compared to patients with other forms of ALS and/or FTD (summary by Harms et al., 2013). Patients with C9ORF72 repeat expansions also show psychiatric disturbances that may predate the onset of dementia (Meisler et al., 2013; Gomez-Tortosa et al., 2013).For a general phenotypic description of frontotemporal dementia, also known as frontotemporal lobar degeneration (FTLD), see {600274}. For a general discussion of motor neuron disease (MND), see amyotrophic lateral sclerosis-1 (ALS1 ). Genetic Heterogeneity of Frontotemporal Dementia and/or Amyotrophic Lateral SclerosisSee also FTDALS2 (OMIM ), caused by mutation in the CHCHD10 gene (OMIM ) on chromosome 22q11; FTDALS3 (OMIM ), caused by mutation in the SQSTM1 gene (OMIM ) on chromosome 5q35; and FTDALS4 (OMIM ), caused by mutation in the TBK1 gene (OMIM ) on chromosome 12q14.

Genes related to Frontotemporal Dementia And/or Amyotrophic Lateral Sclerosis 1; Ftdals1

TARDBP
SQSTM1
FUS
TBK1
CHCHD10
C9orf72
VCP

Clinical Features

Top most frequent phenotypes and symptoms related to Frontotemporal Dementia And/or Amyotrophic Lateral Sclerosis 1; Ftdals1

Pica
Ataxia
Muscle weakness
Milia
Cognitive impairment
Dysarthria
Skeletal muscle atrophy
Tremor
Dystonia
Behavioral abnormality

And another 43 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Not enough data available about incidence and published cases.

Accelerate your rare disease diagnosis with us

Learn more

Frontotemporal Dementia And/or Amyotrophic Lateral Sclerosis 1; Ftdals1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Amyotrophic Lateral Sclerosis Advanced Evaluation. By Athena Diagnostics Inc in United States. OPTN, VCP, SQSTM1, SOD1, FIG4, C9orf72, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2 Specificity 30 % Genes 72 %
Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation. By Athena Diagnostics Inc in United States. OPTN, VCP, SQSTM1, FIG4, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2 Specificity 27 % Genes 58 %
Amyotrophic Lateral Sclerosis. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. OPTN, PRPH2, VCP, SOD1, NEFH, FIG4, C9orf72, ATXN2, SPART, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2 , (...) View the complete list with 1 more genes Panel GTR000552113 complete gene list OPTN, PRPH2, VCP, SOD1, NEFH, FIG4, C9orf72, ATXN2, SPART, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, VEGFA Specificity 20 % Genes 58 %
Dementia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. APP, PSEN1, OPTN, VCP, GRN, FIG4, PSEN2, MAPT, APOE, C9orf72, ALS2, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, CSF1R, TREM2, PRNP , (...) View the complete list with 1 more genes Panel GTR000552210 complete gene list APP, PSEN1, OPTN, VCP, GRN, FIG4, PSEN2, MAPT, APOE, C9orf72, ALS2, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, CSF1R, TREM2, PRNP, SORL1 Specificity 20 % Genes 58 %
Familial Amyotrophic Lateral Sclerosis 10. By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom. TARDBP Specificity 100 % Genes 15 %
TAR DNA binding protein TARDBP (TDP-43) gene sequencing test. By Neurogenetics Department Cyprus Institute of Neurology and Genetics in Cyprus. TARDBP Specificity 100 % Genes 15 %
TDP43. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. TARDBP Specificity 100 % Genes 15 %
TARDBP. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. TARDBP Specificity 100 % Genes 15 %
SOD1, FUS, TARDBP, ANG, C9orf72. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SOD1, C9orf72, FUS, TARDBP, ANG Specificity 60 % Genes 43 %
TARDBP. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. TARDBP Specificity 100 % Genes 15 %
Amyotrophic lateral sclerosis 10 (sequence analysis of TARDBP gene). By CGC Genetics in Portugal. TARDBP Specificity 100 % Genes 15 %
Frontotemporal dementia (NGS panel for 13 genes). By CGC Genetics in Portugal. PSEN1, VCP, GRN, MAPT, FUS, CHMP2B, TARDBP, UBQLN2, CSF1R, CHCHD10, HNRNPA2B1, HNRNPA1, TUBA4A Specificity 31 % Genes 58 %
Hereditary dementias (NGS panel for 28 genes). By CGC Genetics in Portugal. TYROBP, APP, PSEN1, VCP, GRN, TIMM8A, SNCB, PSEN2, MAPT, APOE, NOTCH3, SNCA, FUS, CHMP2B, TARDBP, UBQLN2, ATP13A2, DNMT1, CSF1R, TREM2 , (...) View the complete list with 8 more genes Panel GTR000525270 complete gene list TYROBP, APP, PSEN1, VCP, GRN, TIMM8A, SNCB, PSEN2, MAPT, APOE, NOTCH3, SNCA, FUS, CHMP2B, TARDBP, UBQLN2, ATP13A2, DNMT1, CSF1R, TREM2, PRNP, SORL1, ITM2B, CHCHD10, HNRNPA2B1, HNRNPA1, TUBA4A, TRPM7 Specificity 15 % Genes 58 %
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PSEN1, OPTN, VCP, GRN, SQSTM1, SOD1, PSEN2, MAPT, C9orf72, KIF5A, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, TREM2 , (...) View the complete list with 5 more genes Panel GTR000523316 complete gene list PSEN1, OPTN, VCP, GRN, SQSTM1, SOD1, PSEN2, MAPT, C9orf72, KIF5A, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, TREM2, HNRNPA2B1, HNRNPA1, ANXA11, CDH13, ARHGEF28 Specificity 24 % Genes 86 %
Classic Amyotrophic Lateral Sclerosis Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SOD1, C9orf72, FUS, TARDBP Specificity 75 % Genes 43 %
Amyotrophic Lateral Sclerosis/Motor Neuron Disease via TARDBP Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TARDBP Specificity 100 % Genes 15 %
Dementia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TYROBP, APP, PSEN1, GRN, SQSTM1, PSEN2, MAPT, C9orf72, FUS, CHMP2B, TARDBP, UBQLN2, TREM2 Specificity 31 % Genes 58 %
Amyotrophic lateral sclerosis and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. OPTN, VCP, SQSTM1, SOD1, FIG4, SPG11, MATR3, ALS2, SIGMAR1, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, CHCHD10, HNRNPA2B1 , (...) View the complete list with 4 more genes Panel GTR000558973 complete gene list OPTN, VCP, SQSTM1, SOD1, FIG4, SPG11, MATR3, ALS2, SIGMAR1, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, CHCHD10, HNRNPA2B1, HNRNPA1, TUBA4A, ARHGEF28, ERBB4 Specificity 25 % Genes 86 %
Amyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel. By Connective Tissue Gene Tests in United States. OPTN, VCP, SQSTM1, SOD1, FIG4, SPG11, MATR3, ALS2, SIGMAR1, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, CHCHD10, HNRNPA2B1 , (...) View the complete list with 4 more genes Panel GTR000558975 complete gene list OPTN, VCP, SQSTM1, SOD1, FIG4, SPG11, MATR3, ALS2, SIGMAR1, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, CHCHD10, HNRNPA2B1, HNRNPA1, TUBA4A, ARHGEF28, ERBB4 Specificity 25 % Genes 86 %
Amyotrophic lateral sclerosis and related disorders NGS panel. By Connective Tissue Gene Tests in United States. OPTN, VCP, SQSTM1, SOD1, FIG4, SPG11, MATR3, ALS2, SIGMAR1, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, CHCHD10, HNRNPA2B1 , (...) View the complete list with 4 more genes Panel GTR000559001 complete gene list OPTN, VCP, SQSTM1, SOD1, FIG4, SPG11, MATR3, ALS2, SIGMAR1, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, CHCHD10, HNRNPA2B1, HNRNPA1, TUBA4A, ARHGEF28, ERBB4 Specificity 25 % Genes 86 %
TARDBP-related amyotrophic lateral sclerosis. By Institute of Human Genetics Cologne University in Germany. TARDBP Specificity 100 % Genes 15 %
Neuropathy. By MGZ Medical Genetics Center in Germany. TTR, ABHD12, ATP7A, C12orf65, GAA, FBLN5, OPTN, AMACR, POLG, GARS, MFN2, HADHA, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, SQSTM1 , (...) View the complete list with 102 more genes Panel GTR000521130 complete gene list TTR, ABHD12, ATP7A, C12orf65, GAA, FBLN5, OPTN, AMACR, POLG, GARS, MFN2, HADHA, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, SQSTM1, PDHA1, AIFM1, HEXA, SURF1, NDUFAF5, HK1, GBE1, FXN, CYP27A1, SEPT9, SOD1, ELP1, PLP1, SACS, SLC12A6, 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, SPG11, INF2, MATR3, SPAST, KIF5A, NIPA1, BSCL2, KIF1A, ALS2, FUS, SETX, DCTN1, TARDBP, ANG, VAPB, UBQLN2, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, TDP1, SCN9A, DNMT1, PRPS1, MYH14, PEX12, LAS1L, SMAD3, MARS, PLEKHG5, PDK3, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN, TNNT2, SLC5A7, CTDP1, COX10, ABCA1, AAAS, SLC52A2, SLC52A3, CHCHD10, SCN10A, RETREG1, NGF, ARHGEF10, FAM126A, IFRD1, SCN11A, ATL3, DCAF8, CLP1, LARS, SH3BP4, MICAL1, KLHL13 Specificity 5 % Genes 72 %
TARDBP-Related Amyotrophic Lateral Sclerosis. By MGZ Medical Genetics Center in Germany. TARDBP Specificity 100 % Genes 15 %
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 72 %
Amyotrophic Lateral Sclerosis (ALS) and Phenocopies. By MGZ Medical Genetics Center in Germany. OPTN, VCP, REEP1, SQSTM1, HEXA, GBE1, SOD1, FIG4, SPG11, MATR3, BSCL2, ALS2, FUS, SETX, DCTN1, TARDBP, ANG, VAPB, UBQLN2, BICD2 , (...) View the complete list with 3 more genes Panel GTR000521036 complete gene list OPTN, VCP, REEP1, SQSTM1, HEXA, GBE1, SOD1, FIG4, SPG11, MATR3, BSCL2, ALS2, FUS, SETX, DCTN1, TARDBP, ANG, VAPB, UBQLN2, BICD2, SLC52A2, SLC52A3, CHCHD10 Specificity 22 % Genes 72 %
ALS Sequencing Panel. By FirmaLab in United States. SOD1, TARDBP, ANG, VAPB Specificity 25 % Genes 15 %
TARDP. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. TARDBP Specificity 100 % Genes 15 %
FTD - ALS panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. VCP, SMPD1, GRN, SOD1, NPC1, NPC2, FIG4, MAPT, ALS2, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB Specificity 20 % Genes 43 %
Amyotrophic lateral sclerosis type 10. By Centogene AG - the Rare Disease Company in Germany. TARDBP Specificity 100 % Genes 15 %
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 72 %
ALS panel. By Centogene AG - the Rare Disease Company in Germany. OPTN, PRPH2, VCP, SOD1, NEFH, FIG4, C9orf72, ATXN2, SPART, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2 , (...) View the complete list with 2 more genes Panel GTR000503152 complete gene list OPTN, PRPH2, VCP, SOD1, NEFH, FIG4, C9orf72, ATXN2, SPART, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, VEGFA, VPS54 Specificity 19 % Genes 58 %
Dementia, frontotemporal. By Centogene AG - the Rare Disease Company in Germany. TARDBP Specificity 100 % Genes 15 %
Amyotrophic Lateral Sclerosis NGS Panel + C9orf72 Repeat Expansion. By MNG Laboratories (Medical Neurogenetics, LLC.) in United States. PSEN1, OPTN, VCP, PARK7, SQSTM1, SOD1, FIG4, SPG11, MAPT, C9orf72, MATR3, ALS2, SIGMAR1, FUS, SETX, TARDBP, ANG, VAPB, PFN1, UBQLN2 , (...) View the complete list with 2 more genes Panel GTR000559614 complete gene list PSEN1, OPTN, VCP, PARK7, SQSTM1, SOD1, FIG4, SPG11, MAPT, C9orf72, MATR3, ALS2, SIGMAR1, FUS, SETX, TARDBP, ANG, VAPB, PFN1, UBQLN2, HNRNPA1, ERBB4 Specificity 23 % Genes 72 %
Amyotrophic Lateral Sclerosis NGS Panel. By MNG Laboratories (Medical Neurogenetics, LLC.) in United States. PSEN1, OPTN, VCP, PARK7, SQSTM1, SOD1, FIG4, SPG11, MAPT, MATR3, ALS2, SIGMAR1, FUS, SETX, TARDBP, ANG, VAPB, PFN1, UBQLN2, HNRNPA1 , (...) View the complete list with 1 more genes Panel GTR000559549 complete gene list PSEN1, OPTN, VCP, PARK7, SQSTM1, SOD1, FIG4, SPG11, MAPT, MATR3, ALS2, SIGMAR1, FUS, SETX, TARDBP, ANG, VAPB, PFN1, UBQLN2, HNRNPA1, ERBB4 Specificity 20 % Genes 58 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel. By CeGaT GmbH in Germany. MTHFR, ABHD12, ARG1, ATP7A, AUH, C12orf65, PSEN1, OPTN, OPA1, GLB1, ELOVL4, HSPD1, GARS, AFG3L2, PANK2, OPA3, VCP, ALDH18A1, MTPAP, SPR , (...) View the complete list with 123 more genes Panel GTR000522437 complete gene list MTHFR, ABHD12, ARG1, ATP7A, AUH, C12orf65, PSEN1, OPTN, OPA1, GLB1, ELOVL4, HSPD1, GARS, AFG3L2, PANK2, OPA3, VCP, ALDH18A1, MTPAP, SPR, DARS2, REEP1, SPG7, GAD1, ABCB7, ABCD1, HEXA, NDUFV1, GALC, SLC25A15, GBE1, CYP27A1, SOD1, NEFH, FARS2, GBA, GJC2, PLP1, SACS, TH, PLA2G6, FIG4, TRPV4, HSPB8, HSPB1, DNM2, ATL1, ZFYVE26, SPG11, C9orf72, GCH1, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, BICD2, HSPB3, VRK1, IGHMBP2, VAMP1, PDYN, ASAH1, PQBP1, RAB3GAP1, GFAP, SOX10, SLC16A2, CLCN2, MARS, PLEKHG5, TFG, GAN, LYST, ERLIN1, REEP2, HACE1, MAG, CPT1C, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27, CCT5, COASY, VEGFA, IBA57, ARL6IP1, CCDC88C, AMPD2, SLC1A4, GRID2, STUB1, FAM126A, AIMP1, HNRNPA2B1, HNRNPA1, KANK1, ARHGEF28, ATP2B4, ARSI, FLRT1, KLC4, VPS54, ADD3, PRPH Specificity 3 % Genes 58 %
Amyotrophic Lateral Sclerosis (ALS) Panel. By CeGaT GmbH in Germany. HFE, OPTN, VCP, GRN, PARK7, SQSTM1, SOD1, NEFH, ATXN1, FIG4, SPG11, MAPT, C9orf72, ATXN2, MATR3, SPART, ALS2, SIGMAR1, FUS, SETX , (...) View the complete list with 34 more genes Panel GTR000522444 complete gene list HFE, OPTN, VCP, GRN, PARK7, SQSTM1, SOD1, NEFH, ATXN1, FIG4, SPG11, MAPT, C9orf72, ATXN2, MATR3, SPART, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, GLE1, DPP6, PON3, VEGFA, SRCAP, NEK1, CHCHD10, PON2, PON1, HNRNPA2B1, HNRNPA1, TUBA4A, ARHGEF28, ERBB4, VPS54, SS18L1, PRPH, FGGY, ELP3, CHRM1, HNRNPD, EWSR1, DAO, ITPR2, UNC13A, TAF15 Specificity 13 % Genes 100 %
Frontotemporal Dementia (FTD) Panel. By CeGaT GmbH in Germany. PSEN1, OPTN, VCP, GRN, SQSTM1, PSEN2, MAPT, C9orf72, NOTCH3, ATXN2, MATR3, SIGMAR1, FUS, DCTN1, CHMP2B, TARDBP, UBQLN2, TBK1, CSF1R, TREM2 , (...) View the complete list with 8 more genes Panel GTR000522466 complete gene list PSEN1, OPTN, VCP, GRN, SQSTM1, PSEN2, MAPT, C9orf72, NOTCH3, ATXN2, MATR3, SIGMAR1, FUS, DCTN1, CHMP2B, TARDBP, UBQLN2, TBK1, CSF1R, TREM2, PRNP, ITM2B, CHCHD10, HNRNPA2B1, HNRNPA1, TUBA4A, PRKAR1B, TOMM40 Specificity 25 % Genes 100 %
Dementia all Panel. By CeGaT GmbH in Germany. APP, PSEN1, OPTN, VCP, GRN, SQSTM1, PSEN2, MAPT, APOE, C9orf72, NOTCH3, ATXN2, TBP, MATR3, SIGMAR1, FUS, DCTN1, CHMP2B, TARDBP, UBQLN2 , (...) View the complete list with 16 more genes Panel GTR000522519 complete gene list APP, PSEN1, OPTN, VCP, GRN, SQSTM1, PSEN2, MAPT, APOE, C9orf72, NOTCH3, ATXN2, TBP, MATR3, SIGMAR1, FUS, DCTN1, CHMP2B, TARDBP, UBQLN2, TBK1, NLGN1, CSF1R, TREM2, PRNP, VPS35, ITM2B, CHCHD10, HNRNPA2B1, HNRNPA1, TUBA4A, ABCA7, PRKAR1B, TOMM40, MARK4, CD33 Specificity 20 % Genes 100 %
TARDBP - Gene sequencing. By Clinical Genetics Academic Medical Center in Netherlands. TARDBP Specificity 100 % Genes 15 %
Amyotrophic lateral sclerosis. By Laboratory of Human Genetics GENOMED Health Care Center in Poland. OPTN, GRN, SQSTM1, SOD1, NEFH, FIG4, C9orf72, MATR3, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, TBK1, CHCHD10 , (...) View the complete list with 4 more genes Panel GTR000325432 complete gene list OPTN, GRN, SQSTM1, SOD1, NEFH, FIG4, C9orf72, MATR3, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, TBK1, CHCHD10, HNRNPA1, TUBA4A, PRPH, UBQLN4 Specificity 25 % Genes 86 %
Frontotemporal Dementia. By Asper Biogene Asper Biogene LLC in Estonia. GRN, MAPT, CHMP2B, TARDBP Specificity 25 % Genes 15 %
Amyotrophic Lateral Sclerosis. By Asper Biogene Asper Biogene LLC in Estonia. OPTN, VCP, SQSTM1, SOD1, FIG4, SPG11, MATR3, SPART, ALS2, SIGMAR1, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, CHCHD10 , (...) View the complete list with 2 more genes Panel GTR000556115 complete gene list OPTN, VCP, SQSTM1, SOD1, FIG4, SPG11, MATR3, SPART, ALS2, SIGMAR1, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, CHCHD10, TUBA4A, ERBB4 Specificity 28 % Genes 86 %
Test for TARDBP-Related Frontotemporal Dementia. By Secugen SL in Spain. TARDBP Specificity 100 % Genes 15 %
Amyotrophic lateral sclerosis 10. By Praxis fuer Humangenetik Wien in Austria. TARDBP Specificity 100 % Genes 15 %
Frontotemporal lobar degeneration. By Praxis fuer Humangenetik Wien in Austria. TARDBP Specificity 100 % Genes 15 %
Amyotrophic lateral sclerosis 10. By MedGene in Slovakia. TARDBP Specificity 100 % Genes 15 %
Frontotemporal lobar degeneration. By MedGene in Slovakia. TARDBP Specificity 100 % Genes 15 %
Invitae Amyotrophic Lateral Sclerosis Panel. By Invitae in United States. OPTN, SOD1, SPG11, ALS2, FUS, DCTN1, TARDBP, VAPB, PFN1, UBQLN2, TFG, TBK1, CHCHD10 Specificity 31 % Genes 58 %
Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel. By Invitae in United States. APP, PSEN1, OPTN, VCP, GRN, SOD1, SPG11, PSEN2, MAPT, SNCA, ALS2, FUS, DCTN1, TARDBP, VAPB, PFN1, UBQLN2, TFG, TBK1, PRNP , (...) View the complete list with 1 more genes Panel GTR000553784 complete gene list APP, PSEN1, OPTN, VCP, GRN, SOD1, SPG11, PSEN2, MAPT, SNCA, ALS2, FUS, DCTN1, TARDBP, VAPB, PFN1, UBQLN2, TFG, TBK1, PRNP, CHCHD10 Specificity 24 % Genes 72 %
Invitae Frontotemporal Dementia Panel. By Invitae in United States. VCP, GRN, MAPT, FUS, DCTN1, TARDBP, UBQLN2, TBK1, CHCHD10 Specificity 56 % Genes 72 %
Amyotrophic lateral sclerosis :TARDBP (TDP43) gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. TARDBP Specificity 100 % Genes 15 %
Frontotemporal dementia:TARDBP (TDP43) gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. TARDBP Specificity 100 % Genes 15 %
AMYOTROPHIC LATERAL SCLEROSIS A.D. & A.R.. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. OPTN, VCP, SOD1, FIG4, SPART, ALS2, FUS, SETX, TARDBP, ANG, VAPB Specificity 28 % Genes 43 %
Frontotemporal dementia. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. VCP, GRN, MAPT, SIGMAR1, FUS, CHMP2B, TARDBP, UBQLN2 Specificity 38 % Genes 43 %
NGS panel - dementia. By Genome Diagnostics VU University Medical Center in Netherlands. TYROBP, APP, PSEN1, OPTN, VCP, GRN, SQSTM1, SNCB, SOD1, NEFH, FIG4, PSEN2, MAPT, NOTCH3, SNCA, ALS2, SIGMAR1, FUS, SETX, CHMP2B , (...) View the complete list with 21 more genes Panel GTR000529414 complete gene list TYROBP, APP, PSEN1, OPTN, VCP, GRN, SQSTM1, SNCB, SOD1, NEFH, FIG4, PSEN2, MAPT, NOTCH3, SNCA, ALS2, SIGMAR1, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, SERPINI1, CSF1R, TREM2, PRNP, SORL1, IFT74, ITM2B, PSENEN, HNRNPA2B1, HNRNPA1, ARHGEF28, ERBB4, VPS54, PRPH, PRKAR1B, UBAP1 Specificity 10 % Genes 58 %
Amyotrophic Lateral Sclerosis NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. ABHD12, OPTN, VCP, ACAD8, ABCD1, SOD1, FIG4, C9orf72, ATXN2, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2 , (...) View the complete list with 4 more genes Panel GTR000509393 complete gene list ABHD12, OPTN, VCP, ACAD8, ABCD1, SOD1, FIG4, C9orf72, ATXN2, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, ABCG5, ABCC2, CHGB, PRPH Specificity 17 % Genes 58 %
TARDBP. By Fulgent Genetics Fulgent Genetics in United States. TARDBP Specificity 100 % Genes 15 %
Dementia Panel. By Blueprint Genetics in Finland. UBE3A, APP, PSEN1, VCP, GRN, PSEN2, MAPT, APOE, SNCA, SIGMAR1, FUS, CHMP2B, TARDBP, UBQLN2, CSF1R, TREM2, PRNP, SORL1, RNF216, TUBA4A , (...) View the complete list with 1 more genes Panel GTR000552787 complete gene list UBE3A, APP, PSEN1, VCP, GRN, PSEN2, MAPT, APOE, SNCA, SIGMAR1, FUS, CHMP2B, TARDBP, UBQLN2, CSF1R, TREM2, PRNP, SORL1, RNF216, TUBA4A, ABCA7 Specificity 15 % Genes 43 %
Amyotrophic Lateral Sclerosis Panel. By Blueprint Genetics in Finland. OPTN, HSPD1, VCP, REEP1, GRN, SQSTM1, HEXA, GBE1, SOD1, PRF1, FIG4, ATL1, SPG11, SPAST, KIF5A, BSCL2, WASHC5, SPART, ALS2, FUS , (...) View the complete list with 12 more genes Panel GTR000552738 complete gene list OPTN, HSPD1, VCP, REEP1, GRN, SQSTM1, HEXA, GBE1, SOD1, PRF1, FIG4, ATL1, SPG11, SPAST, KIF5A, BSCL2, WASHC5, SPART, ALS2, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, UBQLN2, SLC52A2, SLC52A3, CHCHD10, HNRNPA1, TUBA4A Specificity 16 % Genes 72 %
Amyotrophic lateral sclerosis. By Bioarray in Spain. TARDBP Specificity 100 % Genes 15 %
Amyotrophic Lateral Sclerosis (TARDBP gene). By Diagnostic Service Facility University of Antwerp in Belgium. TARDBP Specificity 100 % Genes 15 %
AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL DOMINANT). By Laboratorio de Genetica Clinica SL in Spain. VCP, SQSTM1, SOD1, NEFH, FIG4, C9orf72, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, CHCHD10, PRPH Specificity 38 % Genes 86 %
AMYOTROPHIC LATERAL SCLEROSIS: ALS NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. OPTN, VCP, SQSTM1, SOD1, NEFH, FIG4, SPG11, MATR3, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, CHCHD10 , (...) View the complete list with 3 more genes Panel GTR000558227 complete gene list OPTN, VCP, SQSTM1, SOD1, NEFH, FIG4, SPG11, MATR3, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, CHCHD10, HNRNPA1, ERBB4, PRPH Specificity 22 % Genes 72 %
DEMENTIA & ALZHEIMER: NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. APP, PSEN1, VCP, GRN, PSEN2, MAPT, APOE, FUS, CHMP2B, TARDBP, CSF1R, TREM2, PRNP, ITM2B Specificity 22 % Genes 43 %
Amyotrophic Lateral Sclerosis , Sequencing TARDBP Gene. By Reference Laboratory Genetics in Spain. TARDBP Specificity 100 % Genes 15 %
Frontotemporal Dementia , Sequencing TARDBP Gene. By Reference Laboratory Genetics in Spain. TARDBP Specificity 100 % Genes 15 %
Amyotrophic Lateral Sclerosis , Panel Massive Sequencing (NGS) 12 Genes. By Reference Laboratory Genetics in Spain. OPTN, VCP, SOD1, FIG4, SPG11, SPART, ALS2, FUS, SETX, TARDBP, ANG, VAPB Specificity 25 % Genes 43 %
Frontotemporal Dementia , Panel Massive Sequencing (NGS) 8 Genes. By Reference Laboratory Genetics in Spain. VCP, GRN, MAPT, SIGMAR1, FUS, CHMP2B, TARDBP, UBQLN2 Specificity 38 % Genes 43 %
TARDBP-Related Amyotrophic Lateral Sclerosis: gene sequencing. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. TARDBP Specificity 100 % Genes 15 %
MitoMet®Plus aCGH Analysis. By Baylor Miraca Genetics Laboratories in United States. BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...) View the complete list with 617 more genes Panel GTR000508280 complete gene list BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513, AIPL1, YARS2, ALDOA, ALDOB, USH1G, FBP1, PC, GYS2, USH1C, UQCRQ, ARG1, ANKH, UQCRB, HLCS, TYROBP, ATP5F1E, FKBP10, ATP7A, BTD, ATP7B, ATP8B1, ATPAF2, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, BEST1, TWNK, C12orf65, GAA, ADSL, FOXL2, INVS, OPN1MW, HNF1A, HBB, OPN1LW, NEUROD1, SPATA7, MMACHC, RAX, TYRP1, FBLN5, EYA1, PPARG, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, STAR, STAT1, PRKCG, OCA2, VSX1, SLC34A1, APP, SOST, AMN, SLC45A2, WT1, PAX6, TGFB1, ZEB1, ELAC2, TLR4, CHM, RB1, PSEN1, RILP, TGFBI, PITX3, TUBB3, SDHAF2, LEMD3, HNF1B, MTR, RET, MC1R, TYR, ELN, SLC37A4, PDZD7, EYA4, RP1, OPTN, GPR143, TNFRSF11A, INPP5E, ABCA12, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, KRT5, ABCB6, TRMU, CASP8, PYCR1, CLCN7, DTNBP1, WFS1, COMT, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, SRD5A3, GNE, HSD17B10, OCRL, FOXC1, ELOVL4, PITX2, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, HPRT1, NHS, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, SHH, ME2, PRPH2, DSP, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GCK, GARS, AFG3L2, CYP11B1, FOXRED1, RRM2B, NDUFAF2, KIF1B, ALAS2, SLC25A13, MFN2, CRYAB, SDHC, PANK2, HADHA, RAF1, OPA3, FH, VCP, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, SMPD1, MECP2, CYP11B2, FBN1, SLC26A4, WHRN, MTO1, CDH23, COQ9, PDSS2, PDSS1, COQ6, MRPL3, ACO2, NDUFA12, IDH3B, DHODH, DDOST, HARS, C8orf37, LIAS, NDUFB3, GPD1, NDUFA9, COX14, AGK, ALDH18A1, GOT1, HPS1, DNM1L, DGUOK, BOLA3, ACSF3, GPX1, DIABLO, LDHB, PDHB, ALDH6A1, CAT, HP, BLOC1S3, HPS6, HPS5, HPS4, HPS3, ACAT2, TMEM70, HAGH, PRPF6, SERPINF1, MERTK, DHDDS, SP7, SARS2, SLC24A1, GUCA1B, PDE6A, CCDC39, RGR, CNGB1, NFU1, RS1, PHKA2, FAH, PCK2, NDUFAF1, HMGCL, CCDC28B, HSD3B2, TTC19, GNAT2, MSRB3, MTPAP, XPNPEP3, FYCO1, FAM161A, TAT, NDUFA10, NUBPL, PYGL, G6PC, CYP24A1, CNGA1, NRL, CYP11A1, SCP2, CDHR1, IDH2, KARS, SPTLC2, RP1L1, PDE6G, IMPG2, GPI, GCKR, PCARE, GRK1, LRAT, CAVIN1, TSPAN12, TRPM1, ABAT, PDE6C, GFER, PHKG2, TLR3, TMEM126A, SLC25A12, KLHL7, DPM3, PGM1, LDHA, ENO3, ADAM9, GAMT, GATM, SPR, COX4I2, RDH12, SOD2, AK1, RPL35A, PLOD3, SDHB, SLC39A13, SLC9A3R1, STXBP1, SUCLA2, COQ8A, RFT1, CYCS, MRPS22, TUBA1A, GYS1, RARS2, ACAD8, COG1, COG8, DARS2, TUSC3, P3H1, SLC25A3, HAX1, PNPLA2, CRTAP, TUFM, RD3, PRCD, TSFM, MRPS16, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, HTRA2, SEMA4A, ALDH2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, TOPORS, SECISBP2, TK2, SLC25A22, IQCB1, PLOD2, MPDU1, GFM1, FLVCR1, HADHB, DPM1, PDP1, COG7, ALG9, ATIC, ALG1, RGS9, CERKL, MEF2A, AP3B1, UNG, ALG8, FSCN2, ALG2, GRN, NDUFA13, UCP2, COQ2, SPG7, ALG12, B4GALT1, GLUD1, PARK7, PCCB, PCCA, HMGCS2, PINK1, GCSH, GLDC, AMT, DMGDH, C1QTNF5, CISD2, TAP1, LCA5, SCO2, RIMS1, SLC35A1, GAD1, ALG6, TYMP, EYS, MPI, ETHE1, GUCA1A, SQSTM1, PHOX2A, GJA3, UCP1, UCP3, PPARGC1B, RNASEL, MYO7A, STRA6, ALG3, PITPNM3, CA4, D2HGDH, PUS1, PRPF31, AGPS, PRPF8, RP2, OTC, FRMD7, NYX, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, AMER1, SLC9A6, BCOR, ABCD1, XDH, MMADHC, LMBRD1, ABHD5, TCN2, HEXA, GM2A, SUOX, ALDH5A1, ALDH3A2, SARDH, HEXB, LPIN1, AK2, PHYH, SLC35C1, NT5C3A, ALDH7A1, CTSK, CYP27B1, ACOX1, PHKB, PGAM2, PTS, QDPR, PAH, CUBN, GIF, AGXT, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, OAT, GRM6, MPV17, NME1, CTSA, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, CHAT, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, CYB5R3, CYB5A, HIBCH, DBT, MANBA, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, ALDH4A1, TNFRSF11B, SLC25A15, NAGS, L2HGDH, CBS, HK1, CYBA, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, FXN, GLYCTK, LRPPRC, FASTKD2, COX6B1, SLC3A1, CNGA3, ASS1, CYP27A1, SIX6, SLC22A5, SLC25A20, MGAT2, PMM2, PRKN, PPP2R1B, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, SOX2, SLC25A38, GLRX5, TPP1, CLN3, ALMS1, OGDH, CYP17A1, NCOA4, ANKRD26, HESX1, SLC22A4, RP9, FECH, ZFHX3, PPOX, TMEM127, SEPT9, LMX1B, RPS14, STAT3, OGG1, MYOC, TIMP3, RDH5, KIF21A, FZD4, WWOX, MEN1, COL5A1, COL5A2, SNCB, EFEMP1, GPD2, KRT12, KRT3, CPOX, PAX2, PNKD, AKAP10, PLA2G2A, PHB, TEAD1, SOD1, NEFH, GSN Specificity 1 % Genes 29 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. TRIM32, PANK2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, FUCA1, C19orf12, FTL, CP, COASY, DCAF17 Specificity 8 % Genes 15 %
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 2 % Genes 15 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. TRIM32, PANK2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, FUCA1, C19orf12, FTL, CP, COASY, DCAF17 Specificity 8 % Genes 15 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. TRIM32, PANK2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, FUCA1, C19orf12, FTL, CP, COASY, DCAF17 Specificity 8 % Genes 15 %
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 1 % Genes 15 %
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 29 %
Paget Disease of Bone (sequence analysis of SQSTM1 gene). By CGC Genetics in Portugal. SQSTM1 Specificity 100 % Genes 15 %
Paget Disease of Bone (PDB) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TNFRSF11A, SQSTM1 Specificity 50 % Genes 15 %
Distal Hereditary Myopathy Sequencing Panel. By PreventionGenetics PreventionGenetics in United States. GNE, CRYAB, VCP, SQSTM1, CAV3, DYSF, TTN, KLHL9, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP Specificity 10 % Genes 29 %
Paget Disease of Bone via the SQSTM1 Gene. By PreventionGenetics PreventionGenetics in United States. SQSTM1 Specificity 100 % Genes 15 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...) View the complete list with 238 more genes Panel GTR000558369 complete gene list RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH, SERPINF1, SP7, SLC39A13, COG1, P3H1, CRTAP, PLOD2, SQSTM1, AGPS, AMER1, CTSK, CYP27B1, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, LMX1B, COL5A1, COL5A2, FGFR3, COL10A1, CREBBP, PLOD1, RMRP, RUNX2, VDR, FGFR2, HDAC8, RAD21, SMC3, SMC1A, NIPBL, NSD1, GPC3, SBDS, PRKAR1A, ADAMTS2, PEX7, SLC26A2, TRPV4, FGFR1, SHOX, PROK2, PHEX, FGF23, ANO5, HSPG2, FLNA, PIGV, ANKRD11, FGD1, LBR, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, POLR1C, TCOF1, CHSY1, POLR1D, WDR35, CANT1, PTH1R, EBP, NSDHL, RAB23, MSX2, TWIST1, COMP, SOX9, PCNT, ADAMTSL2, DYM, TGFBR1, TGFBR2, SKI, FBN2, FKBP14, TNXB, CHST14, ZNF469, ACVR1, NFIX, GLI3, TP63, GDF6, IFT140, CDH3, BMPR1B, WDR19, PIEZO2, PITX1, ZMPSTE24, RIPK4, FGF10, LHX4, ALX4, SALL4, TBX5, EP300, EFNB1, EFTUD2, ASXL1, SH3BP2, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, GORAB, TTC21B, IFT80, EVC, EVC2, MYCN, B3GALT6, IFT122, GREM1, EIF2AK3, DHCR24, FERMT3, TBXAS1, HOXA11, FREM1, ALX1, GDF3, EXT2, EXT1, MGP, SMARCAL1, TCTN3, AFF4, SRCAP, CEP120, WNT5A, RIN2, DYNC2H1, ESCO2, HOXA13, ROR2, TBX15, WNT7A, CCNQ, IRF6, NEK1, WDR60, ARSE, LRP4, CUL7, PDE4D, PTDSS1, BMPER, MEGF8, ERF, TCF12, ALX3, ORC1, CDC6, CDT1, ORC6, ORC4, OBSL1, CCDC8, FAM111A, ENPP1, SLC34A3, DMP1, SF3B4, WISP3, MESP2, MMP2, HES7, LFNG, GPC6, HOXD13, CHST3, IMPAD1, NKX3-2, DLL3, ACP5, ARHGAP31, GALNT3, FLNB, LIFR, SLC35D1, TRIP11, RAB33B, ADAMTS10, TRPS1, DOCK6, RBPJ, HPGD, PTHLH, GDF5, TRAPPC2, MATN3, MEOX1, HDAC4, TBX3, DDR2, EOGT, MMP13, SNX10, INPPL1, MMP9, SLCO2A1, PCYT1A, NPR2, BMP2, WNT3, SMOC1, BHLHA9, IHH, XYLT1, TBX6, GHSR, FBLN1, FBXW4, FMN1, NOG, LMBR1, PAPSS2, ACAN, ADAMTS17, KIF22, RASGRP2, TBX4, TXNL4A, NPPC, SULF1, COL27A1, DDX59, TGDS Specificity 1 % Genes 15 %
Comprehensive Neuromuscular Sequencing Panel. By PreventionGenetics PreventionGenetics in United States. AGL, GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, ISCU, CHAT, PFKM, PYGM, GBE1, DPAGT1, DMD, CHRNE , (...) View the complete list with 104 more genes Panel GTR000552444 complete gene list AGL, GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, ISCU, CHAT, PFKM, PYGM, GBE1, DPAGT1, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, CLCN1, FKRP, CAV3, DYSF, SCN4A, TTN, KLHL9, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, ATP2A1, BAG3, FHL1, SELENON, CACNA1S, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, BICD2, SYNE1, TMEM43, EMD, TRAPPC11, DNAJB6, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, SNAP25, CHRNG, COL12A1, GLE1, KLHL41, LIMS2, TNPO3, TNNI2, HNRNPDL, TOR1AIP1, POMK, STAC3, LMOD3, GMPPB, TNNT3, MYH3, ECEL1, STIM1, MICU1, COL13A1, SYT2, PREPL, ALG14, HNRNPA2B1, HNRNPA1, MYO18B Specificity 2 % Genes 29 %
Distal Myopathy NGS panel. By Connective Tissue Gene Tests in United States. GNE, CRYAB, VCP, SQSTM1, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP Specificity 10 % Genes 29 %
Distal Myopathy Comprehensive panel. By Connective Tissue Gene Tests in United States. GNE, CRYAB, VCP, SQSTM1, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP Specificity 10 % Genes 29 %
Distal Myopathy Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. GNE, CRYAB, VCP, SQSTM1, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP Specificity 10 % Genes 29 %
Paget disease of bone and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. TNFRSF11A, VCP, SQSTM1, TNFRSF11B, HNRNPA2B1, HNRNPA1, ZNF687 Specificity 29 % Genes 29 %
Paget disease of bone and related disorders NGS panel. By Connective Tissue Gene Tests in United States. TNFRSF11A, VCP, SQSTM1, TNFRSF11B, HNRNPA2B1, HNRNPA1, ZNF687 Specificity 29 % Genes 29 %
Paget disease of bone and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. TNFRSF11A, VCP, SQSTM1, TNFRSF11B, HNRNPA2B1, HNRNPA1, ZNF687 Specificity 29 % Genes 29 %
Paget disease of bone. By Centogene AG - the Rare Disease Company in Germany. SQSTM1 Specificity 100 % Genes 15 %
Congenital Myopathy and Distal Myopathy NGS panel. By Asper Biogene Asper Biogene LLC in Estonia. GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, SELENON , (...) View the complete list with 21 more genes Panel GTR000559182 complete gene list GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, CNTN1, CFL2, TPM2, TNNT1, MTM1, DNAJB6, COL6A3, COL6A1, COL12A1, KLHL41, MYF6, MTMR14, STAC3, LMOD3, MICU1 Specificity 5 % Genes 29 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing. By NBIA Testing Center Oregon Health & Science University in United States. TRIM32, PANK2, SCP2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, VPS13A, FUCA1, C19orf12, FTL, CP, COASY, DCAF17, KMT2B, MECR, SLC39A14 Specificity 6 % Genes 15 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication. By NBIA Testing Center Oregon Health & Science University in United States. TRIM32, PANK2, SCP2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, VPS13A, FUCA1, C19orf12, FTL, CP, COASY, DCAF17, KMT2B, MECR, SLC39A14 Specificity 6 % Genes 15 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication. By NBIA Testing Center Oregon Health & Science University in United States. TRIM32, PANK2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, VPS13A, FUCA1, C19orf12, FTL, CP, COASY, DCAF17, SLC39A14 Specificity 7 % Genes 15 %
Invitae Comprehensive Neuromuscular Disorders Panel. By Invitae in United States. GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB , (...) View the complete list with 84 more genes Panel GTR000551683 complete gene list GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, SMN2, CLCN1, FKRP, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, ATP2A1, BAG3, FHL1, SELENON, CACNA1S, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, KCNJ2, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, LAMP2, FKBP14, MYPN, MYL2, KLHL41, TNPO3, POMK, STAC3, LMOD3, GMPPB, STIM1, VMA21 Specificity 2 % Genes 29 %
Invitae Distal Myopathy Panel. By Invitae in United States. GNE, CRYAB, VCP, SQSTM1, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6 Specificity 12 % Genes 29 %
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel. By Invitae in United States. TTR, AGL, GAA, EYA4, CPT2, GNE, TRIM32, DSP, CRYAB, RAF1, VCP, DPM3, PNPLA2, DPM1, SQSTM1, TAZ, SLC22A5, DOLK, DMD, GLA , (...) View the complete list with 93 more genes Panel GTR000551814 complete gene list TTR, AGL, GAA, EYA4, CPT2, GNE, TRIM32, DSP, CRYAB, RAF1, VCP, DPM3, PNPLA2, DPM1, SQSTM1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, DNM2, LMNA, FKRP, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, MATR3, ATP2A1, BAG3, FHL1, SELENON, RYR1, MYBPC3, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, TMEM43, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, HCN4, SCN5A, CACNA1C, LAMP2, FKBP14, ABCC9, PKP2, RYR2, ACTC1, TNNC1, TNNI3, PRKAG2, PLN, DSG2, JUP, MYPN, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, KLHL41, TNPO3, POMK, STAC3, LMOD3, GMPPB, VCL, STIM1 Specificity 2 % Genes 29 %
Invitae Comprehensive Myopathy Panel. By Invitae in United States. CPT2, GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, LMNA, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3 , (...) View the complete list with 30 more genes Panel GTR000551743 complete gene list CPT2, GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, LMNA, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, ATP2A1, BAG3, FHL1, SELENON, CACNA1S, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, DNAJB6, KCNJ2, COL6A2, COL6A3, COL6A1, FKBP14, MYPN, MYL2, KLHL41, STAC3, LMOD3, STIM1 Specificity 4 % Genes 29 %
Invitae Neurodegeneration with Brain Iron Accumulation Panel. By Invitae in United States. PANK2, SQSTM1, PLA2G6, ATP13A2, WDR45, FUCA1, C19orf12, FTL, CP, COASY, DCAF17 Specificity 10 % Genes 15 %
Paget Disease of Bone NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. TNFRSF11A, SQSTM1 Specificity 50 % Genes 15 %
SQSTM1. By Fulgent Genetics Fulgent Genetics in United States. SQSTM1 Specificity 100 % Genes 15 %
PAGET-Complete. By PentaCoreLab in Hungary. OPTN, TNFRSF11A, VCP, SQSTM1, TNFSF11, TNFRSF11B, DCSTAMP, CSF1 Specificity 25 % Genes 29 %
PAGET DISEASE OF BONE. By Laboratorio de Genetica Clinica SL in Spain. SQSTM1 Specificity 100 % Genes 15 %
Paget Disease of Bone , Sequencing SQSTM1 Gene. By Reference Laboratory Genetics in Spain. SQSTM1 Specificity 100 % Genes 15 %
Paget Disease of Bone , Panel Massive Sequencing (NGS) SQSTM1, TNFRSF11A, TNFRSF11B Genes. By Reference Laboratory Genetics in Spain. TNFRSF11A, SQSTM1, TNFRSF11B Specificity 34 % Genes 15 %
Osteolysis and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes. By Reference Laboratory Genetics in Spain. TYROBP, TNFRSF11A, SQSTM1, TREM2, MMP2, BANF1 Specificity 17 % Genes 15 %
Fused in sarcoma (FUS) gene sequencing test. By Neurogenetics Department Cyprus Institute of Neurology and Genetics in Cyprus. FUS Specificity 100 % Genes 15 %
FUS. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. FUS Specificity 100 % Genes 15 %
Tremor essential type 4 (sequence analysis of FUS gene). By CGC Genetics in Portugal. FUS Specificity 100 % Genes 15 %
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the FUS Gene. By PreventionGenetics PreventionGenetics in United States. FUS Specificity 100 % Genes 15 %
FUS-related amyotrophic lateral sclerosis. By Institute of Human Genetics Cologne University in Germany. FUS Specificity 100 % Genes 15 %
FUS-Related Amyotrophic Lateral Sclerosis. By MGZ Medical Genetics Center in Germany. FUS Specificity 100 % Genes 15 %
FUS. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. FUS Specificity 100 % Genes 15 %
Tremor essential type 4. By Centogene AG - the Rare Disease Company in Germany. FUS Specificity 100 % Genes 15 %
Amyotrophic lateral sclerosis type 6. By Centogene AG - the Rare Disease Company in Germany. FUS Specificity 100 % Genes 15 %
Parkinsons disease panel. By Centogene AG - the Rare Disease Company in Germany. SPR, HTRA2, PARK7, PINK1, PRKN, SNCB, GBA, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, FUS, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, TAF1 , (...) View the complete list with 10 more genes Panel GTR000552609 complete gene list SPR, HTRA2, PARK7, PINK1, PRKN, SNCB, GBA, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, FUS, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, TAF1, UCHL1, FTL, FBXO7, SLC6A3, VPS35, PRKRA, DNAJC6, SLC30A10, GIGYF2, TMEM230 Specificity 4 % Genes 15 %
Single gene testing FUS. By CeGaT GmbH in Germany. FUS Specificity 100 % Genes 15 %
FUS - Gene sequencing. By Clinical Genetics Academic Medical Center in Netherlands. FUS Specificity 100 % Genes 15 %
Test for FUS-Related Amyotrophic Lateral Sclerosis. By Secugen SL in Spain. FUS Specificity 100 % Genes 15 %
Amyotrophic lateral sclerosis 06. By Praxis fuer Humangenetik Wien in Austria. FUS Specificity 100 % Genes 15 %
Tremor, hereditary essential, 4. By Praxis fuer Humangenetik Wien in Austria. FUS Specificity 100 % Genes 15 %
Amyotrophic lateral sclerosis 06. By MedGene in Slovakia. FUS Specificity 100 % Genes 15 %
Tremor, hereditary essential, 4. By MedGene in Slovakia. FUS Specificity 100 % Genes 15 %
FUS. By Fulgent Genetics Fulgent Genetics in United States. FUS Specificity 100 % Genes 15 %
Onco microarray for MDS/AML. By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States. RUNX1, TP53, WT1, IDH2, KRAS, NRAS, PTPN11, CBL, ALK, GATA2, NF1, FUS, GATA1, DNMT3A, EZH2, TFG, TERT, KMT2A, KIT, ASXL1 , (...) View the complete list with 40 more genes Panel GTR000527619 complete gene list RUNX1, TP53, WT1, IDH2, KRAS, NRAS, PTPN11, CBL, ALK, GATA2, NF1, FUS, GATA1, DNMT3A, EZH2, TFG, TERT, KMT2A, KIT, ASXL1, FLT3, NPM1, JAK2, ABL1, TET2, IDH1, ETV6, BCR, RUNX1T1, PDGFRB, TRPS1, PML, DEK, PICALM, CBFB, RARA, TCF3, PBX1, FIP1L1, NUP214, MLLT3, MLLT1, RPN1, MECOM, EGR1, RBM15, MYB, FOXO4, ERG, ELF4, NUP98, MRTFA, MLLT10, AFDN, ARHGAP26, ACSL6, AFF1, GAS6, ELL, SET Specificity 2 % Genes 15 %
Hemato-oncology chromosomal microarray. By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States. BRCA1, BRCA2, APC, MSH2, MLH1, TP53, COL1A1, RB1, BLM, BRAF, HRAS, ALK, PTCH1, PHOX2B, SUFU, CDH1, FUS, SETD2, KDM5C, PAX3 , (...) View the complete list with 72 more genes Panel GTR000527837 complete gene list BRCA1, BRCA2, APC, MSH2, MLH1, TP53, COL1A1, RB1, BLM, BRAF, HRAS, ALK, PTCH1, PHOX2B, SUFU, CDH1, FUS, SETD2, KDM5C, PAX3, GATA3, CTNNB1, TERT, SMARCB1, EP300, DUX4, CREB3L1, BAP1, PIK3CA, MYCN, AKT2, HOXA11, STAG2, ETV6, AKT1, EXT2, EXT1, STAT5B, PIK3R1, FLI1, TCF12, DICER1, KDR, CCND1, CDK12, CHN1, ERBB2, PTCH2, YWHAE, SMO, CIC, PPP2R1A, CCNE1, NTRK3, SS18L1, ABI1, EWSR1, TAF15, PAX7, FOXA1, CREB1, HIP1, NCOA1, NCOA2, ERG, FEV, DDIT3, PBRM1, PATZ1, MAP2K4, LMO1, ASPSCR1, JUN, HEY1, POU5F1, SS18, SSX1, RABEP1, ACSL3, ETV1, FOXO1, TFE3, CREB3L2, MSI2, NR4A3, SSX4, TFEB, ETV4, MALAT1, SSX2, NUTM2A, NUTM2B Specificity 2 % Genes 15 %
Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia. By Bioarray in Spain. FUS Specificity 100 % Genes 15 %
Amyotrophic Lateral Sclerosis (FUS gene). By Diagnostic Service Facility University of Antwerp in Belgium. FUS Specificity 100 % Genes 15 %
Caris MI TumorSeek 592-Gene NGS Panel. By Caris Life Sciences in United States. BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...) View the complete list with 571 more genes Panel GTR000560898 complete gene list BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2, RET, ELN, CASP8, SDHC, RAF1, FH, IDH2, SDHB, ALDH2, ATIC, AMER1, BCOR, SOX2, NCOA4, SEPT9, STAT3, MEN1, TSHR, FGFR3, AR, FANCC, BLM, BRAF, CREBBP, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, MAP2K2, TSC2, RAD21, CBL, TSC1, NSD1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, BARD1, PMS1, MPL, WAS, BTK, NDRG1, DNM2, NTRK1, CNBP, NF1, FGFR1, FGF23, PDK1, FUS, TPM3, FGF14, GRIN2A, STIL, KMT2D, SETD2, TBL1XR1, ATRX, PHF6, PAK3, KDM5C, SETBP1, CACNA1D, HGF, ERCC2, ERCC3, PAX3, SOX10, FGF3, GATA3, MYH9, MED12, FOXP1, CTNNB1, KAT6B, GATA1, RPL5, CANT1, RPL10, MTOR, ATR, NOTCH1, TGFBR2, MYH11, DNMT3A, EZH2, MITF, KCNJ5, AKAP9, KDM6A, TFG, CTNNA1, MAF, TERT, NKX2-1, PRDM16, ERBB3, ARID2, SMARCE1, KMT2A, SMARCA4, SMARCB1, ARID1A, NT5C2, FLT4, FGF10, EP300, KIT, ASXL1, JAK3, SH2B3, CALR, GNAS, CREB3L1, SMAD2, FANCA, FANCG, FANCF, FANCE, FANCL, FANCD2, CYP2D6, BAP1, CDKN1B, VEGFA, ERCC4, PIK3CA, MYCN, CSF1R, AKT2, GNAQ, HOXA11, FLT3, NPM1, EGFR, JAK2, ABL1, ZRSR2, U2AF1, TET2, STAG2, SRSF2, SF3B1, PDGFRA, MYD88, IKZF1, IDH1, FBXW7, ETV6, CSF3R, CBLB, BCORL1, CBLC, IL7R, POLE, GNA11, PIK3R2, AKT3, AKT1, EXT2, EXT1, FAS, ITK, STAT5B, PTPRC, BCR, NFKBIA, CIITA, NFKB2, CTLA4, PIK3R1, PRKDC, NOTCH2, POT1, CARD11, AFF4, NTRK2, MNX1, CCND2, HOXA13, MAP3K1, SRC, RUNX1T1, FLI1, MUC1, CDK6, KNL1, EZR, CTCF, NIN, TCF12, WRN, PAX8, DICER1, PDGFRB, PDGFB, ATP2B3, CAMTA1, ERCC5, XPA, RAD51, BUB1B, NSD2, WISP3, HOXD13, CYLD, FLT1, KDR, ZNF384, TNFAIP3, KDSR, KIAA1549, LIFR, TRIP11, CD79A, CD79B, KAT6A, XPC, CCND1, BCL2, CDK12, DDB2, ABL2, IL21R, MALT1, ETV5, IGF1R, MDM2, DDR2, GPHN, RNF213, MAFB, CHN1, PML, DEK, NUMA1, PICALM, HNRNPA2B1, ERBB2, CBFB, ERCC1, RARA, TCF3, PBX1, FIP1L1, ZBTB16, TAL1, AFF3, NUP214, MN1, MLLT3, CLP1, MLLT1, CDKN2B, YWHAE, SMO, BCL6, MYC, BIRC3, RPN1, MECOM, CDKN2C, HOXC13, RNF43, NUP93, PRRX1, CLTCL1, NONO, AXL, BCL11A, TET1, CIC, SLC34A2, CLTC, PPP2R1A, ERBB4, ATP1A1, KDM5A, RALGDS, RICTOR, RAC1, CD74, CCNE1, KEAP1, NFE2L2, ARAF, BRD4, EML4, GNA13, KIF5B, RPTOR, ROS1, MYCL, NTRK3, FGFR4, KMT2C, SS18L1, ESR1, BCL10, IL2, LCK, INHBA, MLF1, CRLF2, ABI1, AXIN1, UBR5, EWSR1, TAF15, RHOH, PAX7, CRKL, PIK3CG, FOXA1, RBM15, CREB1, IRS2, PCM1, HMGA1, IRF4, HMGA2, HIP1, GOLGA5, TCF7L2, GSK3B, GOPC, NCKIPSD, NACA, CDX2, CCNB1IP1, CDH11, MYB, NFIB, CCND3, CDK8, NCOA1, CD274, NCOA2, FUBP1, GAS7, FOXO3, FOXO4, TENT5C, FHIT, ERG, FBXO11, ERC1, FCRL4, FGF6, FEV, ELF4, ECT2L, EPS15, EPHA5, DOT1L, EBF1, EPHA3, EIF4A2, PER1, ELK4, EPHB1, PDCD1LG2, DDX10, PAFAH1B2, DAXX, DDIT3, PBRM1, PDCD1, DDX5, PCSK7, PATZ1, DDX6, PDE4DIP, CNTRL, COPB1, CRTC3, CRTC1, OMD, NUP98, CNOT3, CHIC2, CHEK1, CHCHD7, CARS, NUTM1, MSN, BCL7A, WDCP, MAML2, EMSY, MCL1, MRTFA, BRD3, BCL9, MAP2K4, MLLT10, MDM4, MLLT11, AFDN, LHFPL6, ARHGAP26, ARFRP1, LASP1, LRIG3, ATF1, KTN1, LMO1, AURKB, BCL2L2, ARHGEF12, BCL2L11, ARNT, LPP, LGR5, LCP1, LRP1B, ASPSCR1, KLK2, HSP90AA1, HSP90AB1, IKBKE, JAZF1, IL6ST, KLHL6, HOXA9, HOOK3, JUN, JAK1, HEY1, HIST1H3B, HERPUD1, PRDM1, POU5F1, PIM1, POU2AF1, PRCC, PLAG1, VTI1A, TMPRSS2, USP6, VEGFB, TRIM26, TNFRSF14, TRRAP, TRAF7, TPR, TTL, TNFRSF17, TLX3, TRIM27, ZMYM2, ZNF521, ZNF217, XPO1, WWTR1, TFPT, SEPT5, TFRC, NSD3, THRAP3, ZNF331, SRSF3, TCEA1, SRGAP3, STAT4, SS18, SSX1, SPOP, SOCS1, SNX29, SPEN, SPECC1, TCL1A, SYK, SLC45A3, REL, SH3GL1, SDC4, RPL22, RAD51B, RANBP17, PSIP1, RABEP1, ACKR3, ACSL6, AFF1, ACSL3, ADGRA2, BTG1, ELL, SET, BCL3, ETV1, FOXO1, TFE3, CREB3L2, MSI2, NR4A3, TFEB, ETV4, NUTM2B, BCL11B, KLF4, H3F3A, FGF19, SUZ12, FGF4, P2RY8, TOP1, AURKA, MEF2B, ZNF703, GID4, H3F3B, TRIM33, WIF1, GMPS, SFPQ, LYL1, MDS2, FGFR1OP, RAP1GDS1, FNBP1, LMO2, HOXC11, TAL2, SEPT6, MLLT6, HLF, COX6C, OLIG2, C15orf65, TPM4, RMI2, FSTL3, CBFA2T3, CCDC6, TLX1, HIST1H4I, HOXD11, MTCP1 Specificity 1 % Genes 15 %
Amyotrophic Lateral Sclerosis , Sequencing FUS (TLS-ALS6) Gene. By Reference Laboratory Genetics in Spain. FUS Specificity 100 % Genes 15 %
Hereditary Essential Tremor, Panel Massive Sequencing (NGS) DRD3, TENM4, FUS Genes. By Reference Laboratory Genetics in Spain. FUS, DRD3, TENM4 Specificity 34 % Genes 15 %
Tempus xO assay. By Tempus Labs, Inc. in United States. BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...) View the complete list with 1693 more genes Panel GTR000558444 complete gene list BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG, LRP5, COL3A1, STAT1, WT1, PAX6, TGFB1, TLR4, RB1, PSEN1, SDHAF2, HNF1B, RET, MC1R, CASP8, COMT, SHH, DSP, KIF1B, SDHC, RAF1, FH, FBN1, GOT1, PRPF6, MERTK, IDH2, SDHB, HAX1, CTSD, PHOX2A, MAOA, AMER1, BCOR, PRKN, PPP2R1B, SOX2, CYP17A1, NCOA4, ZFHX3, TMEM127, STAT3, MEN1, PAX2, PLA2G2A, PHB, TEAD1, MAK, SDHA, IL2RG, TSHR, FGFR3, AR, ARX, ELP1, FANCC, BLM, BRAF, CHD7, CREBBP, FOXG1, GLA, HRAS, KRAS, LDLR, LEPR, MAP2K1, NRAS, PTPN11, RUNX2, SHOC2, SOS1, TINF2, VDR, FGFR2, SOS2, HDAC8, RIT1, MAP2K2, TSC2, RAD21, CBL, SMC3, SMC1A, TSC1, NIPBL, NSD1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, RAD51C, BARD1, PMS1, RAD51D, G6PD, UGT1A1, MPL, WAS, BTK, PKHD1, DPYD, NDRG1, EGR2, DNM2, LMNA, NTRK1, WNK1, PSEN2, NOTCH3, PPP2R2B, TBP, NF1, LRRK2, NR0B1, FGFR1, LHCGR, GNRHR, FGF8, HSD11B2, CYP21A2, GHR, FGF23, MYH7, PDK1, CACNA1S, RYR1, FUS, MYBPC3, SYNE1, TMEM43, SMCHD1, MUSK, FGF14, MCPH1, KCNH2, CHD2, GRIN2A, SCN5A, KMT2D, MAGI2, SETD2, TBL1XR1, TCF4, ATRX, PHF6, PAK3, KDM5C, CUL4B, SETBP1, ZEB2, HGF, ERCC2, ERCC3, DIAPH1, DNMT1, PAX3, SOX10, KCNQ1, PTPRQ, CDC14A, FGF3, GATA3, ROR1, DIAPH3, MID1, MED12, FOXP2, FOXP1, EHMT1, CACNA1C, ARID1B, CTNNB1, LZTR1, FAT4, KAT6B, GATA1, RPL5, RASA1, FOXP3, PHF8, AFF2, FANCB, DKC1, USP9X, RBM10, BRWD3, TAF1, SOX3, KLF8, ZMYM3, CDK16, RAB23, POR, TWIST1, SOX9, SPRED1, MTOR, ABCB1, GLI2, ATR, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, ACTA2, MYH11, PRDM5, ACVR1, DNMT3A, NFIX, EZH2, GLI3, CACNB2, PKP2, MITF, RYR2, KCNJ5, AKAP9, TP63, KDM6A, TFG, CTNNA1, CDH3, MAF, TERC, BMPR1B, TERT, SMAD9, CSF2RA, CSF2RB, NKX2-1, ACTC1, PRDM16, NKX2-5, TNNI3, PRKAG2, DSG2, JUP, TPM1, TNNT2, DSC2, MYL2, MYL3, NEK2, NEK9, RIPK4, ERBB3, ARID2, SMARCE1, HELLS, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, NT5C2, VEGFC, TEK, FLT4, SH2D1A, FGF10, PRSS1, WNK3, MBD3, MBD1, ACE, EP300, KIT, ASXL1, JAK3, SH2B3, MGMT, CALR, DBH, NHP2, NOP10, GNAS, NR3C2, WNT1, CREB3L1, SMAD2, NOD2, KITLG, FANCA, FANCG, FANCF, FANCE, CYP2C19, SLX4, FANCM, FANCL, FANCI, FANCD2, CYP2D6, XRCC2, BAP1, CDKN1B, STK3, SLC6A4, BDNF, VEGFA, ERCC4, THPO, USB1, NEK8, GLIS2, PIK3CA, MYCN, IL11RA, CSF1R, HMGCR, DRD2, SLC6A3, ACVR2B, APOA1, PCSK9, APOB, POLD1, GREM1, ABCG1, ABCA1, AKT2, PAX4, BLK, GLIS3, GATA6, GGCX, GNAQ, TBXAS1, HOXA11, GFI1B, RARB, FLT3, NPM1, TPMT, EGFR, JAK2, ABL1, ZRSR2, U2AF1, TET2, STAG2, SRSF2, SF3B1, PDGFRA, MYD88, IKZF1, IDH1, FBXW7, ETV6, CUX1, CSF3R, CBLB, BCORL1, CBLC, CD40, CD40LG, IL7R, ZAP70, ABRAXAS1, POLE, AXIN2, GNA11, INSR, PIK3R2, AKT3, AKT1, EXT2, EXT1, FAS, ELANE, XIAP, FASLG, ITK, G6PC3, GFI1, RAC2, STAT5B, PTPRC, BCR, PIK3CD, NFKBIA, FADD, AIP, CIITA, IL12RB1, STK4, NFKB2, ABCC2, CTLA4, IL10RA, VKORC1, PIK3R1, ICOS, IL10RB, PRKDC, TYK2, NOTCH2, EPOR, TRAF3, POT1, CARD11, SAMD9, PRMT7, NTRK2, WNT5A, NFIA, IL2RA, NKX2-2, MNX1, ZBTB20, ZNF423, CCND2, ESCO2, HOXA13, DHH, DNMT3B, ROR2, WNT4, WNT7A, MAP3K1, IRF6, ICK, NEK1, FSHR, MAMLD1, FGF17, CDK5, SRC, RUNX1T1, FLI1, CENPE, CDK6, ZMYND11, SETD5, CLIP1, CTCF, CRBN, ERF, TCF12, CDC6, PLK4, WRN, PLAGL1, ASXL3, PAX8, CYP2R1, CDH7, DICER1, PDGFRB, PDGFB, KMT2B, CAMTA1, ERCC5, FGF12, MAPK10, XPA, PRDM8, RAD51, BUB1B, GALNT12, NSD2, HOXD13, NKX3-2, ALOX12B, CYLD, CTNNA3, FLG, NLRP1, FLT1, KDR, WNT10A, ZNF384, TNFAIP3, NCSTN, LYN, PSENEN, CARD8, HTR1A, PLCG2, GATA5, KDSR, B2M, ASCL1, GDNF, CUL3, WNK4, LIFR, SLCO1B1, SLCO1B3, VAV1, BLNK, CD79A, CD79B, CYP2C9, NGF, HOXD10, HLA-B, KEL, DHFR, HOXB13, DDX3X, KAT6A, GRB10, HOXA3, CDK19, MAP3K3, RBPJ, XPC, HR, FGF9, TMC6, CYP1A2, TMC8, TWIST2, NR3C1, IGF1, CCND1, SLC26A3, BCL2, HDAC4, TBX3, CDK12, PRPF40B, ARID5B, CEBPE, MTAP, DDB2, DUSP22, ABL2, NFKB1, IL21R, SMAD6, MALT1, FBXW11, MLH3, ETV5, IGF1R, WNT10B, MDM2, DDR2, RNF213, CTNNA2, PALLD, EGF, SOX17, MAFB, AURKC, PML, MSH3, DEK, TRAF3IP2, IL17RA, ROBO2, PICALM, WNT3, ERBB2, CBFB, PAX9, ERCC1, RARA, TCF3, PBX1, ZBTB16, TAL1, AFF3, CYP3A4, NUP214, ADRB2, MN1, NAT2, MLLT3, EPHA2, MLLT1, CDKN2B, PTPRF, FGF20, PTCH2, YWHAE, SMO, LRP6, BCL6, MYC, BIRC3, RPN1, MECOM, CKS1B, CDKN2C, IGF2R, IHH, HOXC13, OSMR, DCC, RNF43, DVL1, TBX18, CYP2A6, CYP4F2, RXRA, GPC5, TNK2, FAT1, NUP93, PRRX1, MAP3K8, MAD2L2, CD70, CHD1L, PRDM12, NONO, NRTN, PRDM13, AXL, KDM1A, SMARCD2, BCL11A, PRLR, CBX2, BRDT, CHD4, TET1, MAPK8, CIC, MAP3K7, TRIO, ASH1L, KMT5B, KAT2B, HDAC6, PPP2R1A, JMJD1C, ERBB4, NKX2-6, TBX22, EED, DVL3, CTNND1, TRAF3IP1, KDM6B, CNKSR1, KDM5A, SETD1A, PARP1, NRIP1, EIF1AX, RICTOR, RAC1, PRKD1, MXD1, DACH1, STAT2, GLI1, BRD2, ELK1, IGF2, CCNE1, NRG1, KEAP1, NFE2L2, ARAF, BRD4, EML4, GNA13, RPTOR, ROS1, MYCL, NTRK3, FGFR4, KMT2C, PEAR1, CRHR1, STAG1, SS18L1, ESR1, NTF4, RRM1, CYP3A5, BCL10, KLF6, ADAM17, PHIP, CYP2B6, CDK11A, YAP1, XBP1, TLR5, LCK, IKBKB, ARNT2, INHBA, MLF1, CRLF2, ABI1, EGR1, PTPRT, MYBL2, SLC19A1, ADRB1, AXIN1, UBR5, ELP3, EWSR1, TAF15, PRKAR1B, DRD1, FGF16, SP110, RHOH, PAX1, CHD1, RBMXL2, PRDM9, ESR2, SMAD1, PERP, PPARA, TRIB1, EPHB4, SOX1, SEM1, PAX7, IL17RC, MAP3K14, DOCK2, SPRY2, CRK, GAB2, MAPK1, PIK3CB, CRKL, PIK3CG, TRAF6, FOXA2, FOXA1, FOLH1, RBM15, TBL1X, HTR2A, HSD3B1, BAX, PAK5, ABCG2, CHUK, CD44, CSNK1D, CREB1, FKBP5, GLCCI1, IL23R, IL4R, IRS2, HMGA1, IRF4, IRS1, HMGA2, PGR, IRF5, IL6R, MIPOL1, SMAD7, TLR2, TLR1, DIAPH2, EPHB2, ZNF750, ALOX5, MAD1L1, PRKACA, NR4A2, POU6F2, PPM1D, TCF7L2, SSTR5, RAD54L, RAD54B, PTGIS, GRB7, GRM3, GRK5, GRM8, GSK3B, GRK4, GPS2, GRB2, MYOD1, CBFA2T2, CBX8, NAB2, MYBL1, CDC20, NEK10, NFKBIE, CCNE2, NEK3, CDC25A, NOTCH2NLA, CDC25B, CDH2, NPR1, NCK2, NOTCH4, NFKBID, NCOA3, CDK9, CDK17, CDC25C, CDX2, CD80, CBX5, NFATC4, CD28, CES2, CDK14, CBX6, CCNB3, CCNL1, CDK2, CDK7, NEK5, CDH5, CEBPZ, CDH11, CDK20, CBX4, MYB, NKX2-3, NCK1, CDKN3, NQO1, NFATC1, CECR2, CDK3, CD22, CD1D, NKX3-1, NFIB, NEK7, NEK6, CDH20, CDKN1A, CDK10, CCND3, NEK4, CDK8, CDC42, NAB1, CDK1, NFATC3, CD276, MTDH, CDH10, CD86, NCOA1, CDK18, NEK11, NPPB, CDK15, CEBPG, CBX1, NCOR1, CD274, NCOA2, NFKBIZ, FLT3LG, FUBP1, GAB1, FRK, FOXO3, FRS3, FOS, FYN, FOSL2, FZR1, GABPA, FRS2, FOXP4, FOXO4, FOXN3, FOXL1, FOXA3, FOXM1, FGF2, ETS1, ETV2, FGF5, FGF18, TENT5C, FAT2, EXTL1, FEN1, FHIT, FER, FES, ETV3, ERG, ESRRA, FGF1, FGF7, EZH1, ETV7, ETS2, FBXO11, EREG, ESCO1, ESPL1, FBXO8, FGF6, ETV3L, FGR, FEV, FAT3, EPHA7, PHF1, ELF3, ELF2, DVL2, E2F3, ELF4, ECT2L, DNMT3L, PDS5B, EPHB3, EPGN, DMXL1, EPHA4, EPHA8, EHMT2, PHF2, EPHA5, EHF, EPHB6, PEG3, DYRK2, ELK3, ELF1, EPHA1, DOT1L, EBF1, E2F7, EPHA3, E2F6, ELF5, ELK4, EPHB1, PDCD1LG2, PDGFD, DCUN1D2, CYP2C8, DAXX, DDIT3, PBRM1, PDCD1, DIRAS3, DDX5, PBX2, PAXIP1, CYP2J2, PCBP1, DIS3, PAK6, PAK4, PARP2, PDGFC, DDR1, PATZ1, DDX6, DCUN1D1, PARP4, PAK1, CRTC2, CTCFL, CREB3L4, CREM, CSK, CTSS, COPS3, CSNK1E, CRTC3, CRTC1, CTSL, CSF1, CNTFR, CHD6, NUMB, NUP98, CNOT3, CARD10, NRG3, CHD3, CHIC2, CARD6, MSH4, CADM2, CHD9, NUMBL, CHEK1, NUTM2G, CMPK1, MST1, ODC1, MST1R, CHD5, CAPRIN2, NUTM1, NUTM2F, NR4A1, MAP2K6, MAU2, MAP4K1, MAP3K4, MAP3K15, BRPF1, MAD2L1, BTG2, BRPF3, BRD1, MAP3K5, MRTFB, MED29, MAPK9, BCL7A, MAP4K4, MLST8, BMI1, MAPK4, MAP4, BID, BRD9, BIRC5, MAML2, EMSY, BRD8, MED12L, BRD7, BRWD1, BCLAF1, MAP3K12, MAPK15, MAP3K2, MOS, MAML3, MAP3K19, MCL1, BTC, MAPK7, BIRC2, MRTFA, MOB1A, MAP2K7, BTRC, BRD3, MAP4K5, BCL9, MAP4K3, MAGED1, MAP2K4, MAP3K9, MATK, MAML1, MLLT10, MDM4, MAST2, MAP3K13, BUB1, BPTF, MAP4K2, MAPK6, MAST1, MAP2K3, MINK1, MAP2K5, MLLT11, MOB1B, MGA, BIRC8, MPG, BCL2A1, BABAM1, ARHGAP26, LGR4, ARFRP1, LATS2, ATAD2B, ASH2L, LDB1, ASCL4, ASCL3, BCAR3, LATS1, ATF1, LMO1, AURKB, BCL2L2, ATAD2, BACH1, ARPC1A, LMTK3, ARHGAP35, ASXL2, LMTK2, LMO7, BACH2, BAZ2B, BCL2L11, BAZ2A, ARNT, LSM1, LPP, APH1A, LGR5, LGR6, LEF1, BAZ1A, LRP1B, APEX1, ASPSCR1, LTK, BAG4, BAZ1B, ARPC1B, JARID2, JMJD4, IL20RB, ITPKB, KDM4A, HNRNPA3, HSP90AA1, HSP90AB1, IKZF3, IL22RA1, IL22RA2, ID2, IFNLR1, JMJD6, IQGAP1, IL3, KMT2E, KLF12, KDM3A, IL17RB, INPP4B, IQGAP2, ING1, IL18R1, IKBKE, JAZF1, IL6ST, KDM4B, KDM5B, HOXB3, IL20RA, HOXA9, ING4, JMJD8, MAP3K21, KDM8, IL1R1, JMJD7, HSPBAP1, IRS4, KMT5A, INTS12, HOXC10, KAT7, KDM1B, HOXA10, IRAK1, KDM4C, KLF5, JUN, KAT2A, JAK1, IL12RB2, KDM4D, KDM2B, ID3, KDM3B, KAT8, HOXD4, IL1RAP, KDM7A, IL5RA, IKBIP, KDM2A, IQGAP3, IL1R2, JUNB, ID1, IKZF2, HOXD3, JADE1, AJUBA, IL18RAP, HDAC7, HCK, HDAC11, HIF1A, HDAC2, HIST1H4E, HDAC10, HIST1H1E, GTPBP4, HEY1, HDAC9, HDAC3, HDGF, HBEGF, HDAC1, HIF1AN, HIST1H3B, HEY2, HLTF, PHLPP2, PIK3C3, PRDM1, PIM2, POU5F1, PLK1, PRMT1, PRDM2, PMAIP1, PIM1, POU5F2, PLK3, POU2AF1, PIK3C2A, POU5F1B, PRMT6, PPARD, PPFIA1, PRDM6, PIK3R3, PRSS3, PLAGL2, PRDM7, PRDM11, PPP1R1C, PREX2, POU6F1, PLK2, PRDM14, PRKCI, PNRC1, PIK3C2B, PRMT3, PRCC, PRMT8, PRDM4, PIK3R4, PLCG1, PLAG1, PRDM10, PIK3C2G, PRMT5, UHRF1, VTCN1, TOP2B, TRIM66, VAV3, TSHZ3, UBE2D4, TMPRSS2, VGLL1, U2AF2, UBE2D1, VEGFB, TRAF1, UGT1A4, TOP2A, TPTE, UBE4A, TNFRSF14, TRIB2, TRRAP, TLR9, TP53BP1, UHRF2, TYRO3, TRAF3IP3, TRIB3, TNK1, TXK, UBE2D2, TRAF7, TNFRSF17, VAV2, VHLL, TLX2, WAPL, TRAF2, TLX3, UBE2D3, TNKS, TPTE2, ZCCHC7, ZC3H12A, YWHAQ, WNT8A, TLR6, YWHAZ, ZNF639, WNT3A, ZBTB5, TLK1, ZNF521, TIE1, ZNF217, ZBTB7B, ZNF704, YY1, YES1, XPO1, XIRP2, ZBTB33, YWHAH, WNT6, YWHAB, WISP1, ZNF607, TLR10, WNT16, WWTR1, WNT7B, TGFA, WNT8B, WNT5B, ZMYND8, WNT2, TLR8, TLK2, ZC3H7B, ZNF471, ZNF668, WNT2B, NSD3, TLR7, WNT11, ELOC, TBX2, SSX3, SPIC, SRGAP3, STAT4, KMT5C, SMURF2, SULT1A1, SP100, SOX8, SS18, SSX1, TFEC, SPOP, TCF7, SP140, SPRED2, STAT5A, TERF1, SPI1, SP140L, TEAD2, TENM2, SMYD4, TET3, SMC5, SLCO1A2, SOCS1, SLIT2, SPEN, STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5, STARD3, SMYD3, TEC, TCF7L1, STK36, SMC6, SSTR1, SMAD5, SUV39H1, STAT6, SLC47A2, SSTR3, SMC2, SLC47A1, TAOK3, RSPO2, SKOR1, RIPK3, RYK, SETD9, SETD3, RPA1, RPS6KB2, SLC15A2, REL, SETDB1, ROCK1, SETMAR, REC8, RHOB, RHEB, RSPO3, SAV1, SKP2, SLC22A1, ROCK2, SH3GL1, SLC22A6, SETD4, SHC1, SHC4, SLC22A2, RIPK1, RELA, SF3A1, RNF40, SF1, SGO1, SLC22A3, SETD7, RHOT1, SFRP1, SGO2, SETDB2, RIPK2, RUVBL1, SGK1, SKIL, RPS6KB1, RUNX3, SHB, SETD1B, RAB25, PTK6, PTPRB, PVT1, PRSS8, PTK7, RAD52, RBM14, PTPRJ, RAD51B, PTPRR, PTGS1, PTTG1, PTPRG, PSIP1, RAD51AP1, PTGS2, PTK2, PTK2B, PTPRM, PTPRK, PTPN21, PTPN2, PSPN, RABEP1, PTPRD, PTPN6, ADGRL2, ADGRB3, ADAMTS20, ACVR1B, ACSL6, ACVR2A, AATK, ABCC1, AFF1, AHR, ADGRL3, ADGRA2, BTG1, SET, BCL3, ETV1, FOXO1, TFE3, CREB3L2, MSI2, NR4A3, SSX4, TFEB, ETV4, SSX2, NUTM2A, NUTM2B, HLA-A, BCL11B, CDK13, KLF4, H3F3A, BCL2L1, RHOA, HES1, FGF19, NCOR2, SUZ12, SMARCA1, FGF4, MAP3K6, TOP1, AURKA, MEF2B, ZNF703, GID4, MAPK3, TRIM33, WIF1, SFPQ, LYL1, MDS2, RAP1GDS1, LMO2, HOXC11, TAL2, MLLT6, HLF, OLIG2, CBFA2T3, CCDC6, TLX1, HOXD11, MTCP1, NKX2-8, ICOSLG, USP9Y, CES1, PDPK1, POU2F2, YEATS4, TBC1D12, FOXQ1, ZNRF3, PPP6C, RELB, CDX1, E2F5, TRIM24, SMYD2, HDGFL3, MAPK12, EPHA6, SMARCD1, VEGFD, ASCL5, GFRA4, PRRX2, KDM5D, PBX3, BMX, MAPK11, VGLL2, FGF21, CKS2, JUND, CDK11B, TRIM28, CHIC1, TEF, WNT9A, UTY, CUL4A, SMARCC1, SOX21, NRG2, GLIS1, CASC11, WASL, KHSRP, PAK2, MAP3K11, PDGFA, MAP3K10, PIM3, SETD6, MAPK14, ASCL2, HES2, NKX2-4, BTG3, DACH2, PDS5A, CBX3, NRG4, MAPK13, IL3RA, ALKBH6, CARM1, SHC2, SPRED3, VGLL4, RARG, FGF11, IL15RA, TNKS2, SMARCD3, SPIB, NTF3, WNT9B, ARHGAP10, GSK3A, RBMXL1, FOSL1, SPRY3, GSTT1, VGLL3, ZC3H12D, NFATC2, PRMT2, RBMX, SMYD1, ID4, FGF22, ZNF444, FKBP9, HDAC5, IL2RB, TCL1B, IL9R, NFIC, CEBPD, HES4, IL13RA1, SHC3, CBX7, BUB3, INSRR, WNK2, ARTN, SSTR4, PHLPP1, GUCY1A2, FOSB, SMURF1, BBC3, SRMS, PGF, NFKBIB, FGF13, KAT5, PBX4, PRKACB, AREG, CEBPB, E2F1, PRDM15 Specificity 1 % Genes 15 %
Optic Atrophy and Early Glaucoma Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. AUH, BEST1, C12orf65, PAX6, PITX3, OPTN, OPA1, WFS1, FOXC1, PITX2, MFRP, CYP1B1, POLG, OPA3, ACO2, MTPAP, TMEM126A, SPG7, CISD2, NDUFS1 , (...) View the complete list with 14 more genes Panel GTR000558970 complete gene list AUH, BEST1, C12orf65, PAX6, PITX3, OPTN, OPA1, WFS1, FOXC1, PITX2, MFRP, CYP1B1, POLG, OPA3, ACO2, MTPAP, TMEM126A, SPG7, CISD2, NDUFS1, LMX1B, MYOC, SBF2, COL4A1, NR2F1, CANT1, ACVR1, TBK1, MAF, FOXE3, ASB10, LTBP2, SLC4A4, SH3PXD2B Specificity 3 % Genes 15 %
TBK1 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. TBK1 Specificity 100 % Genes 15 %
TBK1 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. TBK1 Specificity 100 % Genes 15 %
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia via TBK1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TBK1 Specificity 100 % Genes 15 %
Single gene testing TBK1. By CeGaT GmbH in Germany. TBK1 Specificity 100 % Genes 15 %
Defects in innate immunity Panel. By CeGaT GmbH in Germany. STAT1, TLR3, TBK1, APOL1, MYD88, CXCR4, IRAK4, NFKBIA, IL17F, CARD9, UNC93B1, TRAF3, TICAM1, TMC6, TMC8, MCM4, TRAF3IP2, IL17RA, TIRAP Specificity 6 % Genes 15 %
Invitae Primary Immunodeficiency Panel. By Invitae in United States. PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...) View the complete list with 187 more genes Panel GTR000553783 complete gene list PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE, CHD7, RMRP, TINF2, ATM, NBN, GATA2, PRF1, CYBB, DCLRE1C, SLC7A7, RTEL1, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, VPS13B, ACTB, NLRP3, SEMA3E, MVK, FOXP3, MAGT1, DKC1, CTSC, BLOC1S6, LYST, TBK1, TERC, TERT, PARN, DOCK8, CSF2RA, PSMB8, IFIH1, ADAR, MEFV, SH2D1A, NCF2, NCF4, JAK3, SH3BP2, CTC1, NHP2, NOP10, NOD2, SLC29A3, FERMT3, RAB27A, STIM1, MYD88, CSF3R, TNFRSF13B, AICDA, CD40LG, IFNGR1, IFNGR2, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, POLE, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, CASP10, STXBP2, ITK, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, LPIN2, PIK3CD, IRAK4, LRBA, NFKBIA, FADD, CD27, WIPF1, CIITA, IL12RB1, RFX5, RFXANK, RFXAP, STK4, TNFRSF1A, NFKB2, CTLA4, EPG5, IL10RA, IL17F, JAGN1, NLRC4, SMARCAL1, TTC7A, PIK3R1, TPP2, ACD, CARD9, CR2, ICOS, IL10RB, PRKDC, TNFRSF13C, TYK2, ADA2, IL12B, ISG15, PRKCD, PSTPIP1, PGM3, UNC93B1, TRAF3, TICAM1, NLRP12, TMEM173, CARD11, IL2RA, DNMT3B, CLPB, TRNT1, SPINK5, IL36RN, CARD14, IL1RN, IL10, ACP5, RBCK1, PLCG2, B2M, BLNK, CD79A, IGLL1, CD79B, ITGB2, TMC6, TMC8, CEBPE, COPA, IL21, IL21R, MALT1, TRAF3IP2, IL17RA, CD3G, CORO1A, STAT2, ITCH, CD8A, CD247, IRF8, BCL10, ADAM17, ZBTB24, CTPS1, LCK, IKBKB, TNFSF12, SP110, FPR1, RHOH, TNFRSF4, TAP2, TAPBP, IL17RC, NFAT5, MAP3K14, DOCK2, DCLRE1B, RORC, IRF7 Specificity 1 % Genes 15 %
Invitae Herpes Simplex Encephalitis Panel. By Invitae in United States. TLR3, TBK1, UNC93B1, TRAF3, TICAM1 Specificity 20 % Genes 15 %
TBK1. By Fulgent Genetics Fulgent Genetics in United States. TBK1 Specificity 100 % Genes 15 %
Glaucoma Panel. By Blueprint Genetics in Finland. PAX6, OPTN, OPA1, FOXC1, PITX2, CYP1B1, OPA3, TMEM126A, LMX1B, MYOC, COL4A1, CNTNAP2, TBK1, MAF, FOXE3, LTBP2, TEK, WDR36 Specificity 6 % Genes 15 %
Frontotemporal dementia with motor neuron disease (sequence analysis of CHCHD10 gene). By CGC Genetics in Portugal. CHCHD10 Specificity 100 % Genes 15 %
Spinal muscular atrophy (NGS panel for 21 genes). By CGC Genetics in Portugal. ATP7A, GARS, REEP1, SCO2, TRPV4, HSPB8, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, VRK1, IGHMBP2, ASAH1, PLEKHG5, DNAJB2, SLC5A7, CHCHD10, EXOSC8 , (...) View the complete list with 1 more genes Panel GTR000525731 complete gene list ATP7A, GARS, REEP1, SCO2, TRPV4, HSPB8, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, VRK1, IGHMBP2, ASAH1, PLEKHG5, DNAJB2, SLC5A7, CHCHD10, EXOSC8, FBXO38 Specificity 5 % Genes 15 %
CHCHD10. By MGZ Medical Genetics Center in Germany. CHCHD10 Specificity 100 % Genes 15 %
Comprehensive mtDNA Depletion Syndromes NGS Panel. By MNG Laboratories (Medical Neurogenetics, LLC.) in United States. TWNK, OPA1, POLG, SLC25A4, AFG3L2, RRM2B, DGUOK, SUCLA2, POLG2, TK2, TYMP, MPV17, SUCLG1, MGME1, FBXL4, CHCHD10 Specificity 7 % Genes 15 %
Congenital and Distal Myopathies Panel. By CeGaT GmbH in Germany. YARS2, TWNK, OPA1, GNE, TRIM32, POLG, RRM2B, CRYAB, VCP, SUCLA2, POLG2, TK2, PUS1, ISCU, NEB, DNM2, PABPN1, CAV3, DYSF, TTN , (...) View the complete list with 53 more genes Panel GTR000522465 complete gene list YARS2, TWNK, OPA1, GNE, TRIM32, POLG, RRM2B, CRYAB, VCP, SUCLA2, POLG2, TK2, PUS1, ISCU, NEB, DNM2, PABPN1, CAV3, DYSF, TTN, KLHL9, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, PLEC, SIL1, COL6A2, COL6A3, COL6A1, MYH14, LAMP2, FKBP14, ACVR1, DNA2, COL12A1, KLHL41, MYF6, MTMR14, STAC3, SPEG, LMOD3, CASQ1, STIM1, ORAI1, MICU1, HACD1, CHCHD10, VMA21, MSTN, HNRNPA2B1, HNRNPA1 Specificity 3 % Genes 29 %
Spinal Muscular Atrophy Panel. By CeGaT GmbH in Germany. ATP7A, GARS, REEP1, SCO2, HEXA, TRPV4, HSPB8, HSPB1, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1, LAS1L, EXOSC3 , (...) View the complete list with 7 more genes Panel GTR000522467 complete gene list ATP7A, GARS, REEP1, SCO2, HEXA, TRPV4, HSPB8, HSPB1, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1, LAS1L, EXOSC3, PLEKHG5, DNAJB2, AARS, SLC5A7, CHCHD10, EXOSC8, FBXO38 Specificity 4 % Genes 15 %
Nuclear encoded Mitochondriopathies Panel. By CeGaT GmbH in Germany. MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...) View the complete list with 263 more genes Panel GTR000522476 complete gene list MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, STAR, ELAC2, SDHAF2, AMACR, CPS1, CPT2, OPA1, TRMU, WFS1, HSD17B10, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GCK, GARS, AFG3L2, FOXRED1, RRM2B, NDUFAF2, KIF1B, ALAS2, SLC25A13, MFN2, SDHC, PANK2, HADHA, OPA3, FH, MTO1, COQ9, PDSS2, PDSS1, COQ6, MRPL3, ACO2, NDUFA12, IDH3B, DHODH, LIAS, NDUFB3, NDUFA9, COX14, AGK, DNM1L, DGUOK, BOLA3, DIABLO, PDHB, ALDH6A1, TMEM70, SARS2, NFU1, PCK2, NDUFAF1, HMGCL, TTC19, MTPAP, XPNPEP3, NDUFA10, NUBPL, IDH2, KARS, GFER, TMEM126A, SLC25A12, GAMT, GATM, COX4I2, SDHB, SUCLA2, COQ8A, CYCS, MRPS22, RARS2, ACAD8, DARS2, SLC25A3, PNPLA2, TUFM, TSFM, MRPS16, HTRA2, REEP1, DNAJC19, POLG2, ACADSB, TK2, SLC25A22, GFM1, HADHB, PDP1, UNG, COQ2, SPG7, GLUD1, PARK7, PCCB, PCCA, HMGCS2, PINK1, GCSH, GLDC, AMT, DMGDH, CISD2, SCO2, TYMP, ETHE1, D2HGDH, PUS1, OTC, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, MMADHC, AK2, OAT, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, CYB5R3, HIBCH, DBT, MLYCD, SUCLG1, DLAT, OXCT1, IVD, ALDH4A1, SLC25A15, NAGS, L2HGDH, HK1, ETFB, ETFA, ETFDH, GCDH, FXN, LRPPRC, FASTKD2, COX6B1, CYP27A1, SLC22A5, SLC25A20, PRKN, APTX, SLC25A38, GLRX5, OGDH, PPOX, WWOX, PNKD, TACO1, FARS2, HARS2, SLC6A8, MTFMT, PDHX, SDHA, MGME1, RMRP, SDHD, SACS, GDAP1, ATL1, MT-TL1, MT-ATP6, MT-ND1, MT-ND6, MT-ND4, SPAST, KIF5A, SLC33A1, SPART, SLC19A3, SAMHD1, CLPP, PNPT1, SLC19A2, MT-TS1, MT-TS2, LARS2, MT-RNR1, PDK3, DNA2, ERCC6, DDHD1, FDX2, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, COASY, MARS2, COX10, SCO1, MT-TL2, TPK1, EARS2, HADH, IDH1, COQ8B, HOGA1, IBA57, SLC25A1, COX20, SERAC1, COA5, PET100, CHCHD10, DECR1, UQCRC2, YWHAE, ATP5F1A, MPC1, NDUFB9, CYC1, COX7B, MRPL44, LYRM4, RMND1, SFXN4, BCAT2, CRAT, CEP89 Specificity 1 % Genes 15 %
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 15 %
Spinal Muscular Atrophy (SMA) Panel. By CeGaT GmbH in Germany. ATP7A, GARS, REEP1, SCO2, HEXA, TRPV4, HSPB8, HSPB1, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1, LAS1L, EXOSC3 , (...) View the complete list with 7 more genes Panel GTR000522524 complete gene list ATP7A, GARS, REEP1, SCO2, HEXA, TRPV4, HSPB8, HSPB1, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1, LAS1L, EXOSC3, PLEKHG5, DNAJB2, AARS, SLC5A7, CHCHD10, EXOSC8, FBXO38 Specificity 4 % Genes 15 %
Single gene testing CHCHD10. By CeGaT GmbH in Germany. CHCHD10 Specificity 100 % Genes 15 %
Invitae Comprehensive Neuropathies Panel. By Invitae in United States. TTR, ATP7A, GARS, MFN2, HARS, SPTLC2, REEP1, AIFM1, ELP1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22 , (...) View the complete list with 50 more genes Panel GTR000551724 complete gene list TTR, ATP7A, GARS, MFN2, HARS, SPTLC2, REEP1, AIFM1, ELP1, 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, SPG11, UBA1, INF2, BSCL2, KIF1A, SIGMAR1, DCTN1, VAPB, BICD2, DYNC1H1, IGHMBP2, SCN9A, DNMT1, PRPS1, MORC2, PLEKHG5, TRIM2, PDK3, GNB4, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN, SLC5A7, DST, SLC52A2, SLC52A3, CHCHD10, RETREG1, NGF, SCN11A, ATL3, FBXO38 Specificity 2 % Genes 15 %
Invitae Hereditary Motor Neuropathy Panel. By Invitae in United States. ATP7A, GARS, REEP1, SMN1, TRPV4, HSPB8, HSPB1, SMN2, UBA1, BSCL2, SIGMAR1, DCTN1, VAPB, BICD2, DYNC1H1, IGHMBP2, PLEKHG5, DNAJB2, HINT1, SLC5A7 , (...) View the complete list with 2 more genes Panel GTR000551813 complete gene list ATP7A, GARS, REEP1, SMN1, TRPV4, HSPB8, HSPB1, SMN2, UBA1, BSCL2, SIGMAR1, DCTN1, VAPB, BICD2, DYNC1H1, IGHMBP2, PLEKHG5, DNAJB2, HINT1, SLC5A7, CHCHD10, FBXO38 Specificity 5 % Genes 15 %
Charcot-Marie-Tooth Neuropathy Panel. By Blueprint Genetics in Finland. TTR, ATP7A, C12orf65, FBLN5, AMACR, GNE, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...) View the complete list with 78 more genes Panel GTR000552820 complete gene list TTR, ATP7A, C12orf65, FBLN5, AMACR, GNE, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1, FXN, SEPT9, NEFH, ELP1, SACS, SLC12A6, 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, SPG11, INF2, MYOT, LDB3, KIF5A, BSCL2, BAG3, KIF1A, SETX, DCTN1, DYNC1H1, IGHMBP2, SCN9A, DNMT1, PRPS1, SMAD3, MME, MARS, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, HINT1, TFG, LRSAM1, AARS, MED25, GAN, CTDP1, CCT5, COX10, DST, SLC25A46, CHCHD10, RETREG1, NGF, ARHGEF10, SCN11A, ATL3, DCAF8, PRDM12, MCM3AP, ATAD3A Specificity 3 % Genes 29 %
Spinal Muscular Atrophy Panel. By Blueprint Genetics in Finland. ATP7A, GARS, REEP1, SCO2, HEXA, SMN1, TRPV4, HSPB8, HSPB1, SMN2, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1 , (...) View the complete list with 10 more genes Panel GTR000552779 complete gene list ATP7A, GARS, REEP1, SCO2, HEXA, SMN1, TRPV4, HSPB8, HSPB1, SMN2, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1, LAS1L, EXOSC3, PLEKHG5, DNAJB2, AARS, SLC5A7, TBCE, CHCHD10, EXOSC8, FBXO38 Specificity 4 % Genes 15 %
C9ORF72 (FTD) DNA Test. By Athena Diagnostics Inc in United States. C9orf72 Specificity 100 % Genes 15 %
Frontotemporal Dementia (FTD) Evaluation. By Athena Diagnostics Inc in United States. GRN, MAPT, C9orf72 Specificity 34 % Genes 15 %
C9orf72 DNA Test. By Athena Diagnostics Inc in United States. C9orf72 Specificity 100 % Genes 15 %
Neurodegenerative Disease, C9orf72-Related. By Center for Human Genetics, Inc in United States. C9orf72 Specificity 100 % Genes 15 %
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. By UCSF Molecular Diagnostics Laboratory University of California, San Francisco in United States. C9orf72 Specificity 100 % Genes 15 %
C9orf72 Hexanucleotide Repeat Expansion Analysis. By Molecular Pathology Laboratory University of Pennsylvania Health System in United States. C9orf72 Specificity 100 % Genes 15 %
C9orf72. By Molecular Diagnostic Laboratory University of Alberta in Canada. C9orf72 Specificity 100 % Genes 15 %
Amyotrophic Lateral Sclerosis. By Molecular Diagnostic Laboratory University of Alberta in Canada. SOD1, C9orf72 Specificity 50 % Genes 15 %
C9orf72-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia. By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom. C9orf72 Specificity 100 % Genes 15 %
C9orf72. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. C9orf72 Specificity 100 % Genes 15 %
C9orf72. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. C9orf72 Specificity 100 % Genes 15 %
Frontotemporal dementia (detection of GGGGCC expansion on C9ORF72 gene). By CGC Genetics in Portugal. C9orf72 Specificity 100 % Genes 15 %
Amyotrophic lateral sclerosis (detection of GGGGCC expansion on C9ORF72 gene). By CGC Genetics in Portugal. C9orf72 Specificity 100 % Genes 15 %
C9orf72 Gene Hexanucleotide Repeat Expansion. By PreventionGenetics PreventionGenetics in United States. C9orf72 Specificity 100 % Genes 15 %
C9orf72-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia. By MGZ Medical Genetics Center in Germany. C9orf72 Specificity 100 % Genes 15 %
C9orf72. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. C9orf72 Specificity 100 % Genes 15 %
Amyotrophic lateral sclerosis with frontotemporal dementia. By Centogene AG - the Rare Disease Company in Germany. C9orf72 Specificity 100 % Genes 15 %
C9orf72 Repeat Expansion Testing. By MNG Laboratories (Medical Neurogenetics, LLC.) in United States. C9orf72 Specificity 100 % Genes 15 %
Choreatic Movement Disorders Panel. By CeGaT GmbH in Germany. HTT, OPA3, GM2A, ATXN1, ATM, C9orf72, ATXN2, ATXN3, ATXN7, TBP, KCNA1, GNAO1, NKX2-1, JPH3, FTL, PDE10A, PRNP, ADCY5, RNF216, FRRS1L , (...) View the complete list with 1 more genes Panel GTR000522464 complete gene list HTT, OPA3, GM2A, ATXN1, ATM, C9orf72, ATXN2, ATXN3, ATXN7, TBP, KCNA1, GNAO1, NKX2-1, JPH3, FTL, PDE10A, PRNP, ADCY5, RNF216, FRRS1L, ARHGEF2 Specificity 5 % Genes 15 %
Atypical Parkinson syndrome Panel. By CeGaT GmbH in Germany. FMR1, COMT, POLG, GRN, TH, PLA2G6, ZFYVE26, SPG11, MAPT, C9orf72, ATXN2, ATXN3, GCH1, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, RAB39B, FTL , (...) View the complete list with 4 more genes Panel GTR000522483 complete gene list FMR1, COMT, POLG, GRN, TH, PLA2G6, ZFYVE26, SPG11, MAPT, C9orf72, ATXN2, ATXN3, GCH1, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, RAB39B, FTL, FBXO7, DNAJC6, SLC30A10, PDE8B Specificity 5 % Genes 15 %
Single gene testing C9orf72. By CeGaT GmbH in Germany. C9orf72 Specificity 100 % Genes 15 %
FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE; FTD-ALS. By Secugen SL in Spain. C9orf72 Specificity 100 % Genes 15 %
C9orf72-Related Amyotrophic Lateral Sclerosis/Frontotemporal. By Institute of Human Genetics University Hospital Ulm in Germany. C9orf72 Specificity 100 % Genes 15 %
Amyotrophic lateral sclerosis and/or frontotemporal dementia. By Praxis fuer Humangenetik Wien in Austria. C9orf72 Specificity 100 % Genes 15 %
C9orf72. By Fulgent Genetics Fulgent Genetics in United States. C9orf72 Specificity 100 % Genes 15 %
Amyotrophic lateral sclerosis 9. By Bioarray in Spain. C9orf72 Specificity 100 % Genes 15 %
Alzheimer Disease, Panel Massive Sequencing (NGS) 8 Genes. By Reference Laboratory Genetics in Spain. APP, PSEN1, GRN, PSEN2, MAPT, APOE, C9orf72, A2M Specificity 13 % Genes 15 %
Distal Myopathy Advanced Sequencing Evaluation. By Athena Diagnostics Inc in United States. GNE, CRYAB, VCP, NEB, DNM2, CAV3, DYSF, TTN, KLHL9, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3 Specificity 6 % Genes 15 %
Charcot-Marie-Tooth Hereditary Neuropathy Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. GARS, KIF1B, MFN2, VCP, HARS, KARS, AIFM1, SURF1, NEFH, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...) View the complete list with 34 more genes Panel GTR000558962 complete gene list GARS, KIF1B, MFN2, VCP, HARS, KARS, AIFM1, SURF1, NEFH, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, SPG11, INF2, BSCL2, DYNC1H1, IGHMBP2, PRPS1, MME, MORC2, MARS, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN Specificity 2 % Genes 15 %
Neuromuscular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1 , (...) View the complete list with 124 more genes Panel GTR000556370 complete gene list ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1, TYMP, PHKA1, CHAT, SUCLG1, PYGM, PMM2, MGME1, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, FIG4, TRPV4, HSPB8, HSPB1, DNM2, LMNA, CLCN1, PABPN1, FKRP, CAV3, UBA1, DYSF, SCN4A, SGCE, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, ATP2A1, BSCL2, BAG3, FHL1, SELENON, CACNA1S, RYR1, SETX, DCTN1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, BICD2, DYNC1H1, VRK1, IGHMBP2, SYNE1, TMEM43, SYNE2, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, COLQ, MUSK, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, DNMT1, CHRNG, LAMP2, LAS1L, PLEKHG5, HINT1, GAN, FBXL4, AMPD1, COL12A1, GLE1, KLHL41, LIMS2, MYF6, TNPO3, TNNI2, MTMR14, HNRNPDL, SLC5A7, TOR1AIP1, POMK, STAC3, SPEG, LMOD3, GMPPB Specificity 1 % Genes 15 %
Comprehensive Neuromuscular Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN , (...) View the complete list with 59 more genes Panel GTR000552180 complete gene list GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, PABPN1, FKRP, CAV3, DYSF, SCN4A, SGCE, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, SELENON, RYR1, TPM3, ACTA1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, VRK1, IGHMBP2, SYNE1, SYNE2, EMD, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, COLQ, MUSK, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, CHRNG, RYR2, PLEKHG5, AMPD1, GLE1, TNNI2, MTMR14 Specificity 2 % Genes 15 %
Limb-Girdle Muscular Dystrophy. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT , (...) View the complete list with 14 more genes Panel GTR000552321 complete gene list GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, SYNE1, SYNE2, EMD, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, COL6A2, COL6A3, COL6A1 Specificity 3 % Genes 15 %
VCP sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. VCP Specificity 100 % Genes 15 %
VCP Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. VCP Specificity 100 % Genes 15 %
Neuromuscular Disorders Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. GAA, GNE, TRIM32, CRYAB, VCP, DPM3, DPM1, ALG2, CHAT, PYGM, GBE1, DPAGT1, DMD, HRAS, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB , (...) View the complete list with 91 more genes Panel GTR000529457 complete gene list GAA, GNE, TRIM32, CRYAB, VCP, DPM3, DPM1, ALG2, CHAT, PYGM, GBE1, DPAGT1, DMD, HRAS, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, FKRP, CAV3, DYSF, SCN4A, LAMB2, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BAG3, FHL1, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, SYNE1, TMEM43, SYNE2, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, TCAP, SGCD, ISPD, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, B4GAT1, DPM2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, SNAP25, LAMP2, FKBP14, TNXB, CHST14, MYL2, COL12A1, KLHL41, LIMS2, MYF6, TNPO3, HNRNPDL, POMK, STAC3, SPEG, LMOD3, GMPPB, STIM1, ORAI1, COL13A1, HACD1, SYT2, PREPL, LRP4, ALG14 Specificity 1 % Genes 15 %
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia. By Human Genetics Ruhr University in Germany. VCP Specificity 100 % Genes 15 %
Body myopathy with Paget disease and frontotemporal dementia (sequence analysis of VCP gene). By CGC Genetics in Portugal. VCP Specificity 100 % Genes 15 %
Amyotrophic lateral sclerosis 14 (sequence analysis of VCP gene). By CGC Genetics in Portugal. VCP Specificity 100 % Genes 15 %
Body myopathy with Paget disease and frontotemporal dementia (deletion/duplication analysis of VCP gene). By CGC Genetics in Portugal. VCP Specificity 100 % Genes 15 %
Body myopathy with Paget disease and frontotemporal dementia (deletion/duplication analysis of VCP gene). By CGC Genetics in Portugal. VCP Specificity 100 % Genes 15 %
Valosin-Containing Protein-Related Disorders via the VCP Gene. By PreventionGenetics PreventionGenetics in United States. VCP Specificity 100 % Genes 15 %
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel. By PreventionGenetics PreventionGenetics in United States. GAA, TRIM32, VCP, PNPLA2, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6 , (...) View the complete list with 13 more genes Panel GTR000509695 complete gene list GAA, TRIM32, VCP, PNPLA2, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, LIMS2, TNPO3, HNRNPDL, TOR1AIP1, POMK, GMPPB Specificity 4 % Genes 15 %
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. C12orf65, VCP, ALDH18A1, REEP1, SPG7, GAD1, ABCD1, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, PNPLA6 , (...) View the complete list with 50 more genes Panel GTR000530620 complete gene list C12orf65, VCP, ALDH18A1, REEP1, SPG7, GAD1, ABCD1, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, BICD2, ATP13A2, ATRX, KDM5C, SLC16A2, EXOSC3, MARS, TFG, LYST, KIDINS220, CAPN1, HACE1, MAG, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, UCHL1, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, CCT5, IBA57, ARL6IP1, AMPD2, UNC80, DSTYK, WDR48, USP8, ARSI, DARS Specificity 2 % Genes 15 %
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. C12orf65, HSPD1, VCP, ALDH18A1, REEP1, SPG7, GAD1, ABCD1, FARS2, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1 , (...) View the complete list with 60 more genes Panel GTR000530624 complete gene list C12orf65, HSPD1, VCP, ALDH18A1, REEP1, SPG7, GAD1, ABCD1, FARS2, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, BICD2, ATP13A2, ATRX, KDM5C, SLC16A2, EXOSC3, MARS, TFG, LYST, ERLIN1, REEP2, KIDINS220, CAPN1, HACE1, MAG, CPT1C, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, UCHL1, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27, CCT5, IBA57, ARL6IP1, AMPD2, UNC80, DSTYK, ATP2B4, ZFR, WDR48, USP8, ARSI, DARS Specificity 2 % Genes 15 %
Histological Myofibrillar Myopathy. By MGZ Medical Genetics Center in Germany. GNE, CRYAB, VCP, LMNA, TTN, DES, FLNC, MYOT, LDB3, BAG3, FHL1, PLEC Specificity 9 % Genes 15 %
Heart Diseases - panels. By MGZ Medical Genetics Center in Germany. TTR, AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, GAA, ELN, CPT2, GNE, JAG1, DSP, CRYAB, RAF1, VCP, FBN1, MTO1, AGK, TMEM70 , (...) View the complete list with 137 more genes Panel GTR000552431 complete gene list TTR, AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, GAA, ELN, CPT2, GNE, JAG1, DSP, CRYAB, RAF1, VCP, FBN1, MTO1, AGK, TMEM70, SLC25A3, PNPLA2, GFM1, SCO2, TAZ, COX15, CPT1A, GBE1, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, SDHA, BRAF, CHD7, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, FKTN, SGCA, SGCB, POMGNT1, SGCG, LMNA, FKRP, CAV3, NF1, TTN, DES, MYH7, FLNC, MYOT, LDB3, BAG3, FHL1, SELENON, MYBPC3, ACTA1, SYNE1, TMEM43, SYNE2, EMD, PLEC, POMT2, POMT1, TCAP, SGCD, KCNJ2, CHKB, LARGE1, KCNH2, SCN5A, KMT2D, ZEB2, TBX1, KCNE1, KCNQ1, CACNA1C, LZTR1, LAMP2, SPRED1, RASA2, RRAS, A2ML1, NODAL, FOXH1, NOTCH1, TGFBR1, TGFBR2, ABCC9, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, KDM6A, DNAH11, BMPR2, ACTC1, TGFB3, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, TPM1, TNNT2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL, TBX5, GJA1, GDF1, GATA4, CITED2, CRELD1, GATA6, CFC1, NOTCH2, ZFPM2, ADAMTSL4, GATA5, TBX20, SMAD6, TAB2, MED13L, NR2F2, NKX2-6, TLL1 Specificity 1 % Genes 15 %
Muscle Disease with Distal Myopathy. By MGZ Medical Genetics Center in Germany. AGL, GNE, CRYAB, VCP, PNPLA2, CHRNE, CAPN3, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1 , (...) View the complete list with 8 more genes Panel GTR000521089 complete gene list AGL, GNE, CRYAB, VCP, PNPLA2, CHRNE, CAPN3, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, CCDC78, BICD2, TCAP, AGRN, CHRNA1, CHRND, CHRNB1, MYH14 Specificity 4 % Genes 15 %
Muscle Weakness (Myopathy, Muscular Dystrophy). By MGZ Medical Genetics Center in Germany. TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA , (...) View the complete list with 159 more genes Panel GTR000521098 complete gene list TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA, VCP, MTO1, AGK, TMEM70, CAVIN1, PGM1, SLC25A3, PNPLA2, POLG2, TK2, GFM1, HADHB, ALG2, SCO2, PUS1, TAZ, ABHD5, LPIN1, COX15, ISCU, CPT1A, CHAT, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, SEPT9, KIF21A, SDHA, DPAGT1, DMD, PHOX2B, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, GDAP1, TRPV4, MPZ, NEFL, EGR2, DNM2, LMNA, CLCN1, FKRP, CAV3, UBA1, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, HSPG2, BAG3, FHL1, SELENON, CACNA1S, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, BICD2, DYNC1H1, IGHMBP2, SYNE1, TMEM43, SYNE2, EMD, TRAPPC11, DNAJB6, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, GOSR2, HNRNPU, SNAP25, CUL4B, MYH14, LAMP2, LAS1L, FKBP14, TNXB, HINT1, AARS, AMPD1, COL12A1, LIMS2, MYF6, TNPO3, MTMR14, TOR1AIP1, POMK, STAC3, GMPPB, PIEZO2, MYBPC1, FDX2, PGK1, HADH, STIM1, ORAI1, MICU1, PREPL, LRP4, ALG14, SLC52A3, GLRB, GLRA1, SLC6A5 Specificity 1 % Genes 15 %
Muscle Disease with FSHD Phenocopies. By MGZ Medical Genetics Center in Germany. VCP, SGCA, CAPN3, FHL1, SMCHD1 Specificity 20 % Genes 15 %
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR). By MGZ Medical Genetics Center in Germany. ACADM, AGL, ACADVL, GAA, CPT2, GNE, TRIM32, POLG, RRM2B, CRYAB, HADHA, VCP, PNPLA2, TK2, HADHB, PUS1, ABHD5, LPIN1, ISCU, PYGM , (...) View the complete list with 70 more genes Panel GTR000521121 complete gene list ACADM, AGL, ACADVL, GAA, CPT2, GNE, TRIM32, POLG, RRM2B, CRYAB, HADHA, VCP, PNPLA2, TK2, HADHB, PUS1, ABHD5, LPIN1, ISCU, PYGM, GBE1, ETFB, ETFA, ETFDH, SLC22A5, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, TRPV4, DNM2, LMNA, CLCN1, FKRP, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, SELENON, RYR1, ACTA1, MYH2, MTM1, BICD2, DYNC1H1, TMEM43, EMD, TRAPPC11, DNAJB6, PLEC, POMT2, POMT1, TCAP, SGCD, COLQ, GFPT1, CHRNA1, CHRND, CHRNB1, CHKB, COL6A2, COL6A3, LARGE1, COL6A1, HNRNPU, LAMP2, HINT1, LIMS2, TNPO3, TOR1AIP1, GMPPB, HADH, STIM1 Specificity 2 % Genes 15 %
VCP. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. VCP Specificity 100 % Genes 15 %
Amyotrophic lateral sclerosis type 14. By Centogene AG - the Rare Disease Company in Germany. VCP Specificity 100 % Genes 15 %
Single gene testing VCP. By CeGaT GmbH in Germany. VCP Specificity 100 % Genes 15 %
VCP - Gene sequencing. By Clinical Genetics Academic Medical Center in Netherlands. VCP Specificity 100 % Genes 15 %
Charcot-Marie-Tooth Disease. By Asper Biogene Asper Biogene LLC in Estonia. C12orf65, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, TYMP, AIFM1, SURF1, NAGLU, HK1, ARSA, NDRG1, SBF2, PRX, FIG4 , (...) View the complete list with 47 more genes Panel GTR000520409 complete gene list C12orf65, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, TYMP, AIFM1, SURF1, NAGLU, HK1, ARSA, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, WNK1, SPTLC1, INF2, KIF5A, BSCL2, KIF1A, SETX, DCTN1, DYNC1H1, HSPB3, IGHMBP2, SCN9A, PRPS1, MORC2, MARS, COX6A1, PLEKHG5, TRIM2, SBF1, GNB4, DHTKD1, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN, SLC5A7, NGF, ARHGEF10 Specificity 2 % Genes 15 %
Test for VCP-Related Frontotemporal Dementia. By Secugen SL in Spain. VCP Specificity 100 % Genes 15 %
Amyotrophic lateral sclerosis 14. By Praxis fuer Humangenetik Wien in Austria. VCP Specificity 100 % Genes 15 %
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia. By Praxis fuer Humangenetik Wien in Austria. VCP Specificity 100 % Genes 15 %
Amyotrophic lateral sclerosis 14. By MedGene in Slovakia. VCP Specificity 100 % Genes 15 %
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia. By MedGene in Slovakia. VCP Specificity 100 % Genes 15 %
Invitae Inclusion Body Myopathy Panel. By Invitae in United States. GNE, VCP, TTN, MYH2 Specificity 25 % Genes 15 %
Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT , (...) View the complete list with 14 more genes Panel GTR000512605 complete gene list GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, SYNE1, SYNE2, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, COL6A2, COL6A3, COL6A1 Specificity 3 % Genes 15 %
Distal Hereditary Myopathy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. GNE, CRYAB, VCP, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, LDB3, MATR3, FHL1, TCAP Specificity 8 % Genes 15 %
VCP. By Fulgent Genetics Fulgent Genetics in United States. VCP Specificity 100 % Genes 15 %
Cardiomyopathy Panel. By Blueprint Genetics in Finland. HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...) View the complete list with 135 more genes Panel GTR000552712 complete gene list HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1, AGK, TMEM70, PNPLA2, TSFM, DNAJC19, GFM1, PCCB, PCCA, SCO2, TAZ, COX15, GUSB, MLYCD, GBE1, ETFB, ETFA, ETFDH, FXN, SLC22A5, SLC25A20, ALMS1, SDHA, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, FKTN, SGCA, SGCB, SGCG, CAPN3, LMNA, FKRP, DYSF, NF1, SCNN1G, SCNN1B, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BAG3, FHL1, SELENON, MYBPC3, ACTA1, TMEM43, EMD, PLEC, TCAP, SGCD, ISPD, SMCHD1, LAMA2, LARGE1, HCN4, SCN5A, EEF1A2, VPS13A, LZTR1, LAMP2, SPRED1, RASA2, RRAS, ABCC6, ABCC9, PKP2, RYR2, CASQ2, ACTC1, TGFB3, PRDM16, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, JPH2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, TOR1AIP1, SPEG, GMPPB, VCL, TBX5, PPP1CB, DBH, APOA1, GATA6, XK, EPG5, CTNNA3, RBCK1, TBX20, ALPK3, CALR3, TAB2, TNNI3K, MYL4, GTPBP3, RMND1, FOXD4, HAND1, CDH2, MYBPHL, FBXO32, LRRC10, PPA2, PLEKHM2 Specificity 1 % Genes 15 %
Comprehensive Cardiology Panel. By Blueprint Genetics in Finland. HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...) View the complete list with 165 more genes Panel GTR000552682 complete gene list HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1, AGK, TMEM70, PNPLA2, TSFM, DNAJC19, GFM1, PCCB, PCCA, SCO2, TAZ, COX15, GUSB, MLYCD, GBE1, ETFB, ETFA, ETFDH, FXN, SLC22A5, SLC25A20, ALMS1, SDHA, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, FKTN, SGCA, SGCB, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, NF1, SCNN1G, SCNN1B, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BAG3, FHL1, SELENON, MYBPC3, ACTA1, TMEM43, EMD, PLEC, POMT1, TCAP, SGCD, ISPD, SMCHD1, KCNJ2, LAMA2, LARGE1, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, EEF1A2, VPS13A, KCNE1, KCNQ1, CACNA1C, LZTR1, LAMP2, SPRED1, RASA2, RRAS, ACTA2, ABCC6, TRPM4, ABCC9, SCN3B, CACNB2, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, CASQ2, AKAP9, KCNA5, ACTC1, TGFB3, PRDM16, NKX2-5, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, JPH2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, TOR1AIP1, SPEG, GMPPB, VCL, NOS1AP, SALL4, TBX5, PPP1CB, DBH, APOA1, GATA6, XK, EPG5, NUP155, ENPP1, SCN10A, CTNNA3, RBCK1, GATA5, TBX20, ALPK3, CALR3, CALM3, TAB2, TNNI3K, MYL4, GTPBP3, RMND1, TECRL, FOXD4, HAND1, CDH2, MYBPHL, FBXO32, LRRC10, PPA2, PLEKHM2 Specificity 1 % Genes 15 %
Amyotrophic Lateral Sclerosis (VCP gene). By Diagnostic Service Facility University of Antwerp in Belgium. VCP Specificity 100 % Genes 15 %
INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA. By Laboratorio de Genetica Clinica SL in Spain. VCP Specificity 100 % Genes 15 %
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia , Sequencing VCPGene. By Reference Laboratory Genetics in Spain. VCP Specificity 100 % Genes 15 %
Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes. By Reference Laboratory Genetics in Spain. ATP7A, OCRL, GARS, KIF1B, MFN2, VCP, KARS, REEP1, ELP1, SMN1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...) View the complete list with 29 more genes Panel GTR000559824 complete gene list ATP7A, OCRL, GARS, KIF1B, MFN2, VCP, KARS, REEP1, ELP1, SMN1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, GJB1, SMN2, UBA1, INF2, DES, BSCL2, ALS2, SIGMAR1, SETX, DYNC1H1, IGHMBP2, ASAH1, PRPS1, PLEKHG5, DNAJB2, LRSAM1, AARS, MED25, SLC52A3, SLC52A1 Specificity 3 % Genes 15 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes. By Reference Laboratory Genetics in Spain. GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7 , (...) View the complete list with 91 more genes Panel GTR000559873 complete gene list GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7, SGCA, SGCB, PEX1, POMGNT1, SGCG, CAPN3, RAPSN, TRPV4, DNM2, LMNA, CLCN1, PABPN1, FKRP, CAV3, UBA1, DYSF, SCN4A, TOR1A, SGCE, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, ATP2A1, BSCL2, BAG3, FHL1, SELENON, CACNA1S, RYR1, TPM3, ACTA1, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, DYNC1H1, VRK1, IGHMBP2, SYNE1, TMEM43, SYNE2, EMD, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, COLQ, MUSK, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, CHKB, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, PEX6, CACNA1C, PEX14, PEX3, PEX26, PEX10, PEX12, PEX5, CHRNG, LAMP2, RYR2, PLEKHG5, AMPD1, GLE1, TNNI2, MTMR14, TNNT3, PEX11B, AMPD3 Specificity 1 % Genes 15 %
Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia: gene sequencing. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. VCP Specificity 100 % Genes 15 %

Alternate names

Frontotemporal Dementia And/or Amyotrophic Lateral Sclerosis 1; Ftdals1 Is also known as frontotemporal dementia and/or amyotrophic lateral sclerosis;ftdals, frontotemporal dementia and/or motor neuron disease;ftdmnd, amyotrophic lateral sclerosis and/or frontotemporal dementia;alsftd;ftd-als; ftd-mnd; frontotemporal dementia with amyotrophic lateral sclerosis.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like STARGARDT DISEASE 1; STGD1 NAIL-PATELLA SYNDROME