Panel Name, Specifity and genes Tested/covered |
HSP, Supplemental Dominant Evaluation.
By Athena Diagnostics Inc in United States.
HSPD1, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2
Specificity
17 %
Genes
100 %
|
HSP, Comprehensive Evaluation.
By Athena Diagnostics Inc in United States.
HSPD1, REEP1, SPG7, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1 , (...)
View the complete list with 4 more genes
HSPD1, REEP1, SPG7, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2
Specificity
5 %
Genes
100 %
|
HSP, Supplemental Sporadic Evaluation.
By Athena Diagnostics Inc in United States.
HSPD1, REEP1, PLP1, SACS, ATL1, ZFYVE26, SPG11, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART , (...)
View the complete list with 2 more genes
HSPD1, REEP1, PLP1, SACS, ATL1, ZFYVE26, SPG11, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2
Specificity
5 %
Genes
100 %
|
HSP, Complete Dominant Evaluation.
By Athena Diagnostics Inc in United States.
HSPD1, REEP1, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2
Specificity
10 %
Genes
100 %
|
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
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
100 %
|
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
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
100 %
|
Hereditary Spastic Paraplegia Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
C12orf65, TUBB3, HSPD1, OPA3, MECP2, ALDH18A1, REEP1, SPG7, ABCD1, ACOX1, FARS2, GJC2, PLP1, SLC2A1, SACS, PLA2G6, ATL1, ZFYVE26, SPG11, SPAST , (...)
View the complete list with 59 more genes
C12orf65, TUBB3, HSPD1, OPA3, MECP2, ALDH18A1, REEP1, SPG7, ABCD1, ACOX1, FARS2, GJC2, PLP1, SLC2A1, SACS, PLA2G6, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, BICD2, VAMP1, PQBP1, ATP13A2, WDR45, SAMHD1, RNASEH2B, KDM5C, TREX1, SLC16A2, EXOSC3, MARS, TFG, ERLIN1, REEP2, KIDINS220, CAPN1, HACE1, KLC2, MAG, CPT1C, IFIH1, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, UCHL1, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27
Specificity
2 %
Genes
100 %
|
Charcot-Marie-Tooth Syndrome.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
GARS, KIF1B, MFN2, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1 , (...)
View the complete list with 14 more genes
GARS, KIF1B, MFN2, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, SPTLC1, BSCL2, DCTN1, DYNC1H1, IGHMBP2, PRPS1, DNAJB2, LRSAM1, AARS, MED25
Specificity
3 %
Genes
100 %
|
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
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
100 %
|
Congenital Generalized Lipodystrophy Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
FBN1, CAVIN1, BSCL2, CAV1, KCNJ6, AGPAT2
Specificity
17 %
Genes
100 %
|
Comprehensive Lipodystrophy Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
PPARG, FBN1, CAVIN1, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, POLD1, AKT2, ADRA2A, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, KCNJ6, AGPAT2
Specificity
6 %
Genes
100 %
|
Comprehensive Lipodystrophy Panel.
By Genetic Services Laboratory University of Chicago in United States.
PPARG, FBN1, CAVIN1, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, POLD1, AKT2, ADRA2A, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, KCNJ6, AGPAT2
Specificity
6 %
Genes
100 %
|
Congenital Generalized Lipodystrophy Panel.
By Genetic Services Laboratory University of Chicago in United States.
FBN1, CAVIN1, BSCL2, CAV1, KCNJ6, AGPAT2
Specificity
17 %
Genes
100 %
|
Hereditary Spastic Paraplegia Exome Panel.
By Genetic Services Laboratory University of Chicago in United States.
C12orf65, HSPD1, ALDH18A1, REEP1, SPG7, ABCD1, FARS2, GJC2, PLP1, SLC2A1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2 , (...)
View the complete list with 36 more genes
C12orf65, HSPD1, ALDH18A1, REEP1, SPG7, ABCD1, FARS2, GJC2, PLP1, SLC2A1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, VAMP1, ATP13A2, KDM5C, SLC16A2, EXOSC3, ERLIN1, KIDINS220, CAPN1, MAG, CPT1C, ENTPD1, NT5C2, KIF1C, C19orf12, B4GALNT1, GBA2, DDHD2, TECPR2, DDHD1, ERLIN2, AP4S1, AP4B1, AP4E1, AP4M1, IBA57, ARL6IP1
Specificity
2 %
Genes
100 %
|
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
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
100 %
|
Ataxia Exome Panel.
By Genetic Services Laboratory University of Chicago in United States.
FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)
View the complete list with 460 more genes
FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG, PAX6, PSEN1, INPP5E, AMACR, HSD17B4, CPS1, OPA1, WFS1, PSAP, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290, DLD, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, RRM2B, NDUFAF2, KIF1B, PANK2, OPA3, MECP2, COQ9, PDSS2, PDSS1, COQ6, ACO2, NDUFA12, HARS, NDUFB3, NDUFA9, COX14, ALDH18A1, PDHB, TMEM70, NDUFAF1, TTC19, MTPAP, NDUFA10, NUBPL, GPI, GAMT, SPR, STXBP1, COQ8A, RFT1, TUBA1A, RARS2, DARS2, TSFM, REEP1, DNAJC19, CTSD, MPDU1, FLVCR1, DPM1, GRN, COQ2, SPG7, ALG6, TYMP, ETHE1, SQSTM1, OTC, PDHA1, ABCB7, SLC9A6, ABCD1, MMADHC, TCN2, HEXA, SUOX, ALDH5A1, HEXB, PHYH, PTS, MPV17, CTSA, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, HIBCH, DBT, SUCLG1, DLAT, GALC, L2HGDH, GBE1, FXN, LRPPRC, FASTKD2, COX6B1, ASS1, CYP27A1, PMM2, MKS1, APTX, ASL, TPP1, WWOX, PNKD, SOD1, TACO1, FARS2, MTFMT, SDHA, PNP, ARSA, CDKL5, EIF2B1, FOXG1, GJC2, NPC1, NPC2, PCDH19, PLP1, SLC2A1, TINF2, WDR62, ATM, MRE11, NF2, SDHD, PRF1, CLN6, CLN8, FKTN, PEX2, PPT1, PEX7, SACS, TH, MLC1, PEX1, POMGNT1, SLC17A5, SUMF1, TTPA, CLN5, EIF2B5, PLA2G6, TMEM216, PRX, SH3TC2, MPZ, PMP22, EGR2, DNM2, GJB1, ATL1, ZFYVE26, EIF2B3, EIF2B2, EIF2B4, SPG11, CSTB, SCN1A, AHI1, FKRP, CACNA1A, GCH1, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, SETX, DYNC1H1, VRK1, SYNE1, TRAPPC11, POMT2, POMT1, ISPD, KCNA1, CACNB4, SLC1A3, SYT14, ANO10, TDP1, SIL1, GRM1, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2, POMGNT2, LARGE1, ATP1A2, ATP1A3, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SLC19A3, SCN2A, SLC6A1, FOLR1, HCN1, KCNQ2, KCNC1, EPM2A, LMNB2, MBD5, SCARB2, TBC1D24, PRRT2, BRAT1, DCX, RELN, TSEN54, ADGRG1, CTSF, DNAJC5, MFSD8, ATP13A2, KCNA2, SNAP25, SLC13A5, ROGDI, SCN8A, SPTAN1, PNKP, KCNJ10, TCF4, OFD1, OPHN1, CASK, CUL4B, GFAP, HTRA1, CLPP, ERCC3, POLR1C, DNMT1, SOX10, SLC19A2, PRPS1, AP1S2, KIAA0586, PEX16, PEX26, PEX10, MVK, NEU1, DKC1, SLC16A2, CLCN2, EXOSC3, TSEN34, TSEN2, NALCN, MME, LRSAM1, GAN, IFT140, CAV1, NKX2-1, FBXL4, GMPPB, PIEZO2, CHMP1A, ERCC6, ERLIN1, KIDINS220, CAPN1, HACE1, MAG, CPT1C, ENTPD1, NT5C2, KIF1C, C19orf12, UCHL1, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ERLIN2, AP4S1, AP4B1, AP4E1, AP4M1, CTDP1, PGK1, HNRNPH2, RNASET2, CTC1, GJA1, FTL, CP, ERCC4, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, EOMES, VLDLR, MARS2, COX10, SCO1, MT-TP, COG4, PRNP, SLC46A1, TPK1, SLC20A2, APOB, ERCC8, LIG4, GCLC, GSS, SLC39A4, ADA2, SLC25A46, PGM3, TCTN3, SAMD9L, KIAA0556, CEP104, CEP120, TMEM107, PDE6D, CSPP1, HERC1, HEPACAM, DNAJC3, LRP4, TUBB, IBA57, ARL6IP1, CCDC88C, CA8, ZIC1, XRCC4, SEPSECS, TBCE, COX20, MECR, UBA5, NUP62, AAAS, NAXE, RARS, ATP8A2, ATP2B3, CTBP1, CACNA1G, CAMTA1, BEAN1, ATCAY, DOCK3, COL18A1, EBF3, SLC52A2, LAMA1, GRID2, NOL3, PIK3R5, PCNA, DMXL2, PTRH2, ELOVL5, RTN4IP1, RNASEH1, RNF216, SCYL1, ERCC5, RNF168, SLC6A19, TELO2, TRPC3, TDP2, VARS, ZIC4, NAT8L, OTUD4, PUM1, STUB1, ARV1, DGAT2, FGF12, ITM2B, LMNB1, YME1L1, MAPK10, SLC9A1, SLC52A3, COQ4, RUBCN, PMPCA, UROC1, TRNT1, XPA, ZNF592, COA5, WDR81, POLR3A, POLR3B, RNF170, PET100, PRDM8, CHCHD10, APOPT1, SNX14, TMEM240, WDR73, CWF19L1, VWA3B, THG1L, CHAMP1, PIGG
Specificity
1 %
Genes
100 %
|
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel.
By ARUP Laboratories, Molecular Genetics and Genomics in United States.
ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2 , (...)
View the complete list with 58 more genes
ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, 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, INF2, KIF5A, BSCL2, BAG3, KIF1A, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, TDP1, SCN9A, DNMT1, SOX10, PRPS1, MYH14, LAS1L, MARS, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN, SLC5A7, CCT5, PRNP, RETREG1, NGF, ARHGEF10, HOXD10
Specificity
2 %
Genes
100 %
|
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing.
By ARUP Laboratories, Molecular Genetics and Genomics in United States.
ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2 , (...)
View the complete list with 58 more genes
ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, 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, INF2, KIF5A, BSCL2, BAG3, KIF1A, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, TDP1, SCN9A, DNMT1, SOX10, PRPS1, MYH14, LAS1L, MARS, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN, SLC5A7, CCT5, PRNP, RETREG1, NGF, ARHGEF10, HOXD10
Specificity
2 %
Genes
100 %
|
Charcot-Marie-Tooth.
By Human Genetics University Hospital Bern in Switzerland.
GARS, SEPT9, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, MPZ, PMP22, NEFL, LITAF, RAB7A, EGR2, YARS, DNM2, GJB1, BSCL2 , (...)
View the complete list with 2 more genes
GARS, SEPT9, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, MPZ, PMP22, NEFL, LITAF, RAB7A, EGR2, YARS, DNM2, GJB1, BSCL2, PDK3, CTDP1
Specificity
5 %
Genes
100 %
|
Detection of the N88S and S90L mutations in exon 3 of the BSCL2 gene.
By Neurogenetics Department Cyprus Institute of Neurology and Genetics in Cyprus.
BSCL2
Specificity
100 %
Genes
100 %
|
BSCL2. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
BSCL2
Specificity
100 %
Genes
100 %
|
BSCL2. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
BSCL2
Specificity
100 %
Genes
100 %
|
Spastic Paraplegia 17 (sequence analysis of BSCL2 gene).
By CGC Genetics in Portugal.
BSCL2
Specificity
100 %
Genes
100 %
|
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes).
By CGC Genetics in Portugal.
TTR, ABHD12, TWNK, C12orf65, GARS, KIF1B, MFN2, KARS, SPTLC2, REEP1, TYMP, AIFM1, PHYH, HK1, SEPT9, ELP1, SLC12A6, NDRG1, SBF2, PRX , (...)
View the complete list with 54 more genes
TTR, ABHD12, TWNK, C12orf65, GARS, KIF1B, MFN2, KARS, SPTLC2, REEP1, TYMP, AIFM1, PHYH, HK1, SEPT9, ELP1, 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, INF2, KIF5A, BSCL2, KIF1A, DYNC1H1, IGHMBP2, SCN9A, DNMT1, SOX10, PRPS1, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, HINT1, TFG, LRSAM1, AARS, MED25, GAN, CTDP1, DST, RETREG1, NGF, ARHGEF10, HOXD10, SCN11A, ATL3, DCAF8
Specificity
2 %
Genes
100 %
|
Hereditary spastic paraplegia AD (NGS panel for 10 genes).
By CGC Genetics in Portugal.
HSPD1, REEP1, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5, ZFYVE27
Specificity
10 %
Genes
100 %
|
Lipodystrophy, congenital Berardinelli-Seip type 2 (sequence analysis of BSCL2 gene).
By CGC Genetics in Portugal.
BSCL2
Specificity
100 %
Genes
100 %
|
Hereditary distal motor neuropathy type VA (sequence analysis of BSCL2 gene).
By CGC Genetics in Portugal.
BSCL2
Specificity
100 %
Genes
100 %
|
Hereditary spastic paraplegia (NGS panel for 43 genes).
By CGC Genetics in Portugal.
C12orf65, HSPD1, REEP1, SPG7, GJC2, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1 , (...)
View the complete list with 23 more genes
C12orf65, HSPD1, REEP1, SPG7, GJC2, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, TFG, ENTPD1, NT5C2, C19orf12, B4GALNT1, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, VPS37A, ERLIN2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27, ARL6IP1, AMPD2
Specificity
3 %
Genes
100 %
|
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
ATP7A, GARS, REEP1, SCO2, TRPV4, HSPB8, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, VRK1, IGHMBP2, ASAH1, PLEKHG5, DNAJB2, SLC5A7, CHCHD10, EXOSC8, FBXO38
Specificity
5 %
Genes
100 %
|
Lipodystrophies (NGS panel for 17 genes).
By CGC Genetics in Portugal.
PPARG, FBN1, CAVIN1, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, AKT2, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, AGPAT2, PCYT1A
Specificity
6 %
Genes
100 %
|
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).
By CGC Genetics in Portugal.
PPARG, FBN1, CAVIN1, BLM, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, ERCC6, POLD1, AKT2, ERCC8, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, KCNJ6 , (...)
View the complete list with 5 more genes
PPARG, FBN1, CAVIN1, BLM, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, ERCC6, POLD1, AKT2, ERCC8, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, KCNJ6, AGPAT2, WRN, PCYT1A, SPRTN, BANF1
Specificity
4 %
Genes
100 %
|
Lipodystrophies (NGS panel for 17 genes).
By CGC Genetics in Portugal.
PPARG, FBN1, CAVIN1, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, AKT2, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, AGPAT2, PCYT1A
Specificity
6 %
Genes
100 %
|
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).
By CGC Genetics in Portugal.
PPARG, FBN1, CAVIN1, BLM, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, ERCC6, POLD1, AKT2, ERCC8, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, KCNJ6 , (...)
View the complete list with 5 more genes
PPARG, FBN1, CAVIN1, BLM, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, ERCC6, POLD1, AKT2, ERCC8, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, KCNJ6, AGPAT2, WRN, PCYT1A, SPRTN, BANF1
Specificity
4 %
Genes
100 %
|
BSCL2-Related Neurologic Disorders/Seipinopathy.
By Centre de Genetique Humaine Institut de Pathologie et de Genetique in Belgium.
BSCL2
Specificity
100 %
Genes
100 %
|
Berardinelli-Seip Congenital Lipodystrophy Type 2.
By Centre de Genetique Humaine Institut de Pathologie et de Genetique in Belgium.
BSCL2
Specificity
100 %
Genes
100 %
|
Congenital Generalised Lipodystrophy Type 2.
By Exeter Molecular Genetics Laboratory in United Kingdom.
BSCL2
Specificity
100 %
Genes
100 %
|
Seipin-Related Disorders via the BSCL2 Gene.
By PreventionGenetics PreventionGenetics in United States.
BSCL2
Specificity
100 %
Genes
100 %
|
Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
ATP7A, GARS, REEP1, TRPV4, HSPB8, HSPB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, LAS1L, DNAJB2, HINT1, AARS, GAN, SLC5A7 , (...)
View the complete list with 2 more genes
ATP7A, GARS, REEP1, TRPV4, HSPB8, HSPB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, LAS1L, DNAJB2, HINT1, AARS, GAN, SLC5A7, SYT2, FBXO38
Specificity
5 %
Genes
100 %
|
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
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
100 %
|
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
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
100 %
|
Comprehensive Neuropathy Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
TTR, ATP7A, FBLN5, GARS, MFN2, KARS, SPTLC2, REEP1, AIFM1, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1 , (...)
View the complete list with 51 more genes
TTR, ATP7A, FBLN5, GARS, MFN2, KARS, SPTLC2, REEP1, AIFM1, HK1, ELP1, 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, INF2, KIF5A, BSCL2, KIF1A, SETX, DCTN1, MEGF10, BICD2, DYNC1H1, HSPB3, IGHMBP2, SCN9A, DNMT1, PRPS1, LAS1L, MARS, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN, SLC5A7, CCT5, RETREG1, NGF
Specificity
2 %
Genes
100 %
|
Congenital Generalized Lipodystrophy (CGL) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
CAVIN1, BSCL2, CAV1, AGPAT2
Specificity
25 %
Genes
100 %
|
Atrial fibrillation Deletion / Duplication test.
By Connective Tissue Gene Tests in United States.
C12orf65, GARS, HADHB, AIFM1, GLA, FIG4, FGD4, GDAP1, EGR2, HSPB1, DNM2, GJB1, BSCL2, DYNC1H1, COX6A1, GNB4, DHTKD1, AARS, ATP1A1
Specificity
6 %
Genes
100 %
|
Atrioventricular block Comprehensive test.
By Connective Tissue Gene Tests in United States.
C12orf65, GAA, AIFM1, GLA, BSCL2, COX6A1, AARS, ATP1A1
Specificity
13 %
Genes
100 %
|
Atrioventricular block NGS test.
By Connective Tissue Gene Tests in United States.
C12orf65, GAA, AIFM1, GLA, BSCL2, COX6A1, AARS, ATP1A1
Specificity
13 %
Genes
100 %
|
Atrial fibrillation Comprehensive test.
By Connective Tissue Gene Tests in United States.
C12orf65, GARS, HADHB, AIFM1, GLA, FIG4, FGD4, GDAP1, EGR2, HSPB1, DNM2, GJB1, BSCL2, DYNC1H1, COX6A1, GNB4, DHTKD1, AARS, ATP1A1
Specificity
6 %
Genes
100 %
|
Atrial fibrillation NGS test.
By Connective Tissue Gene Tests in United States.
C12orf65, GARS, HADHB, AIFM1, GLA, FIG4, FGD4, GDAP1, EGR2, HSPB1, DNM2, GJB1, BSCL2, DYNC1H1, COX6A1, GNB4, DHTKD1, AARS, ATP1A1
Specificity
6 %
Genes
100 %
|
Charcot-Marie-Tooth disease Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...)
View the complete list with 23 more genes
C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, BSCL2, DYNC1H1, PRPS1, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, TFG, LRSAM1, AARS, MED25, ATP1A1
Specificity
3 %
Genes
100 %
|
Charcot-Marie-Tooth disease NGS panel.
By Connective Tissue Gene Tests in United States.
C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...)
View the complete list with 23 more genes
C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, BSCL2, DYNC1H1, PRPS1, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, TFG, LRSAM1, AARS, MED25, ATP1A1
Specificity
3 %
Genes
100 %
|
Charcot-Marie-Tooth disease Comprehensive panel.
By Connective Tissue Gene Tests in United States.
C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...)
View the complete list with 23 more genes
C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, BSCL2, DYNC1H1, PRPS1, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, TFG, LRSAM1, AARS, MED25, ATP1A1
Specificity
3 %
Genes
100 %
|
Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
ATP7A, GARS, HARS, REEP1, TRPV4, HSPB8, HSPB1, GJB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, PLEKHG5, PDK3, DNAJB2, HINT1 , (...)
View the complete list with 4 more genes
ATP7A, GARS, HARS, REEP1, TRPV4, HSPB8, HSPB1, GJB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, PLEKHG5, PDK3, DNAJB2, HINT1, GAN, SLC5A7, DCAF8, FBXO38
Specificity
5 %
Genes
100 %
|
Distal hereditary motor neuropathy and related disorders NGS panel.
By Connective Tissue Gene Tests in United States.
ATP7A, GARS, HARS, REEP1, TRPV4, HSPB8, HSPB1, GJB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, PLEKHG5, PDK3, DNAJB2, HINT1 , (...)
View the complete list with 4 more genes
ATP7A, GARS, HARS, REEP1, TRPV4, HSPB8, HSPB1, GJB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, PLEKHG5, PDK3, DNAJB2, HINT1, GAN, SLC5A7, DCAF8, FBXO38
Specificity
5 %
Genes
100 %
|
Distal hereditary motor neuropathy and related disorders Comprehensive panel.
By Connective Tissue Gene Tests in United States.
ATP7A, GARS, HARS, REEP1, TRPV4, HSPB8, HSPB1, GJB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, PLEKHG5, PDK3, DNAJB2, HINT1 , (...)
View the complete list with 4 more genes
ATP7A, GARS, HARS, REEP1, TRPV4, HSPB8, HSPB1, GJB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, PLEKHG5, PDK3, DNAJB2, HINT1, GAN, SLC5A7, DCAF8, FBXO38
Specificity
5 %
Genes
100 %
|
Progeroid syndromes and related disorders NGS panel.
By Connective Tissue Gene Tests in United States.
RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)
View the complete list with 1 more genes
RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1, SLC25A24
Specificity
5 %
Genes
100 %
|
Progeroid syndromes and related disorders Comprehensive panel.
By Connective Tissue Gene Tests in United States.
RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)
View the complete list with 1 more genes
RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1, SLC25A24
Specificity
5 %
Genes
100 %
|
Progeroid syndromes and related disorders Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)
View the complete list with 1 more genes
RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1, SLC25A24
Specificity
5 %
Genes
100 %
|
Hypertrophic cardiomyopathy - different panels.
By Institute of Human Genetics Cologne University in Germany.
TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, DLD, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22, TSFM , (...)
View the complete list with 45 more genes
TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, DLD, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22, TSFM, GFM1, COQ2, PDHA1, PHKA1, SURF1, GUSB, MLYCD, FXN, COX6B1, SLC22A5, PMM2, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, SOS2, RIT1, MAP2K2, NF1, TTN, DES, MYH7, BSCL2, FHL1, MYBPC3, ACTA1, LZTR1, LAMP2, RASA2, RRAS, A2ML1, ACTC1, TNNI3, PRKAG2, PLN, TPM1, TNNT2, CSRP3, MYL2, MYL3, AGPAT2
Specificity
2 %
Genes
100 %
|
Mental retardation - different panels.
By Institute of Human Genetics Cologne University in Germany.
FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)
View the complete list with 847 more genes
FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6, MTR, INPP5E, MTRR, PYCR1, CC2D2A, PRODH, ATP6V0A2, SRD5A3, HSD17B10, OCRL, ELOVL4, NDP, OTX2, HPRT1, NHS, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, SHH, DLD, NDUFS4, PANK2, RAF1, FH, SMPD1, MECP2, PDSS2, PDSS1, ACO2, NDUFA12, DDOST, ALDH18A1, DNM1L, ACSF3, CCDC28B, TAT, NUBPL, DPM3, PGM1, GAMT, GATM, AK1, SDHB, STXBP1, COQ8A, RFT1, MRPS22, TUBA1A, COG1, COG8, DARS2, TUSC3, HAX1, DNAJC19, CTSD, SLC25A22, MPDU1, DPM1, COG7, ALG9, ALG1, AP3B1, ALG8, ALG2, GRN, COQ2, ALG12, B4GALT1, GCSH, GLDC, AMT, SCO2, SLC35A1, GAD1, ALG6, MPI, ETHE1, STRA6, ALG3, D2HGDH, PUS1, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, MMADHC, ABHD5, SUOX, ALDH5A1, ALDH3A2, SLC35C1, ACOX1, CA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, GUSB, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFA1, NDUFA11, NDUFS1, NDUFV1, NDUFS2, NDUFAF5, MMAA, MUT, CYB5R3, DBT, MANBA, MAN2B1, MLYCD, SLC25A15, L2HGDH, CBS, GALT, GALE, LRPPRC, MGAT2, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, SOX2, TPP1, CLN3, HESX1, PPOX, WWOX, FARS2, SLC6A8, PDHX, SDHA, ABCD4, AGA, AHCY, DOLK, DPAGT1, MOGS, HPD, MGME1, PNP, FGFR3, ASPA, ARX, BLM, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, GJC2, HRAS, IDS, IDUA, IKBKG, KRAS, MAP2K1, MEF2C, DMPK, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, RMRP, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, SOS2, HDAC8, RIT1, MAP2K2, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, NBN, PTCH1, GPC3, SMAD4, CLN6, CLN8, FKTN, PPT1, PEX7, SLC35A3, TH, MCOLN1, PEX1, POMGNT1, SLC12A6, SLC17A5, CLN5, PHGDH, DPYD, TMEM216, FIG4, NTRK1, MT-TL1, ZFYVE26, MT-TK, MT-ATP6, SPG11, SCN1A, AHI1, FKRP, ATXN10, GCH1, NF1, FGFR1, KCNJ11, L1CAM, SLC33A1, BSCL2, WASHC5, KIF1A, SPART, CCDC78, DYNC1H1, VRK1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, ANO10, SIL1, GRM1, LAMA2, DPM2, POMGNT2, CHKB, LARGE1, B3GALNT2, MCPH1, ASPM, ATP1A2, ATP1A3, GABRB3, KCTD7, ST3GAL5, SCN2A, SLC35A2, SLC6A1, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, CHD2, GABRA1, GRIN2A, MBD5, ALG13, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, BRAT1, PIGO, COL4A1, ARFGEF2, CENPJ, DEAF1, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, STIL, TUBB2B, CTSF, DNAJC5, MFSD8, ATP13A2, KMT2D, CACNA2D2, SETD2, TBL1XR1, SPATA5, EEF1A2, KCNA2, DNM1, SIK1, PURA, KCNB1, SLC13A5, DOCK7, NR2F1, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, ATP2A2, SHANK3, SHANK2, SALL1, ACTB, ACTG1, ATP6V1B2, ERCC2, ERCC3, PNPT1, NLRP3, DIAPH1, SOX10, MT-TS1, PRPS1, PEX6, NARS2, FUCA1, PTCHD1, ADNP, MID1, MED12, LAMC3, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TBR1, TMEM231, ARID1B, CTNNB1, NLGN4X, NLGN3, LZTR1, KIAA0586, PEX13, PEX26, PEX10, PEX12, PEX5, KAT6B, MVK, NEU1, CCBE1, PHF8, HUWE1, HCFC1, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, USP9X, ZC4H2, GDI1, FTSJ1, RPS6KA3, SHROOM4, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, LAS1L, EIF2S3, FRMPD4, CLCN4, CCDC22, CNKSR2, THOC2, SPRED1, NSUN2, RASA2, RRAS, NECAP1, MTOR, EXOSC3, TUBB2A, TGIF1, ZIC2, NALCN, CEP152, CDON, GLI2, CDK5RAP2, PCNT, ATR, NAGA, DYM, TGFBR1, TGFBR2, SKI, ACVR1, DNMT3A, NFIX, EZH2, GLI3, ABCC9, MAGEL2, KDM6A, DHTKD1, AARS, MED25, POC1B, MAF, SLC4A4, NKX2-1, EMC1, FBXL4, POMK, GMPPB, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, ERCC6, ARID2, SMARCE1, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, HACE1, MAG, IFIH1, PGAP1, ENTPD1, NT5C2, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, STAMBP, KIF11, CTDP1, PGK1, MT-CO2, MT-ND5, MT-CO1, MT-CO3, DPP6, THRB, EP300, RNASET2, EFTUD2, ASXL1, GNPAT, GNAS, WNT1, FANCD2, SOX5, SATB2, KATNAL2, AUTS2, MASP1, ERCC4, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, PIK3CA, RAB18, IER3IP1, RBBP8, MYCN, VLDLR, COX10, MT-TV, COG4, ALG11, COG6, COG5, TMEM165, MAT1A, EARS2, DDC, SLC6A3, EIF2AK3, DHCR24, MYO5A, RAB27A, STIM1, RARB, B3GLCT, PIK3R2, AKT3, ERCC8, LIG4, TPI1, GSS, PRKRA, EPG5, PIK3R1, PACS1, PGM3, TCTN3, MICU1, UBR1, OCLN, KCNJ6, AGPAT2, IFT172, PRMT7, AFF4, SRCAP, KIAA0556, CEP104, PDE6D, CSPP1, KPTN, RNF125, TBC1D7, HEPACAM, TRMT10A, ZBTB20, ZNF423, CEP83, TBC1D20, RTTN, ESCO2, DNMT3B, FRAS1, CDK5, KATNB1, TUBG1, KIF5C, KIF2A, ASNS, SNAP29, PDE4D, PTDSS1, CCDC88C, MPDZ, LAMB1, SLC25A1, MED17, MFSD2A, CENPE, CDK6, CEP135, CEP63, ZMYND11, TTI2, TAF2, SLC6A17, SETD5, NDST1, MID2, METTL23, KIF4A, FMN2, FBXO31, CRADD, ADAT3, GATAD2B, CTCF, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15, ZNF526, ZC3H14, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, CA8, DPH1, MEGF8, TCF12, ORC1, GMNN, PLK4, LARP7, POC1A, PYCR2, TUBGCP4, ASXL3, TUBGCP6, TBCE, PPP1R15B, SLC1A4, SERAC1, CLPB, KMT2B, BCAP31, ACY1, CACNA1G, COL18A1, LAMA1, PTRH2, SCYL1, ERCC5, COQ4, PMPCA, XPA, WDR81, POLR3A, POLR3B, PET100, APOPT1, SNX14, WDR73, CHAMP1, PIGG, ZSWIM6, BUB1B, AP1S1, MPLKIP, GTF2H5, CA5A, PEPD, FAM126A, DHFR, COL4A2, PEX11B, POGZ, DDX3X, KAT6A, IGF1, COLEC11, HDAC4, SLC12A5, PIGT, RBM28, GPHN, SSR4, UBE3B, AIMP1, STT3B, STT3A, TMCO1, ERCC1, FTO, CLP1, HMGB3, MAB21L2, SMOC1, RNF113A, MFF, FAR1, SC5D, UNC80, UPB1, NECTIN1, CAD, KCNH1, RLIM, KLHL15, USP27X, DARS, DDX59, KDM1A, JAM3, ISCA2, ELP2, TRIO, MED13L, MYT1L, DCPS, TRIP12, TCF20, GABBR2, PPP2R1A, FASN, SNX27, ITPA, RMND1, SFXN4, RSPRY1, GTF2E2, APC2, HNRNPK, HIST1H4B, GON4L, SLC39A6, SCAPER, ADRA2B, KRBOX4, CCNA2, KDM6B, MEIS2, PGAP3, PECR, CKAP2L, CASP2, FRMD4A, GEMIN4, INPP4A, ZCCHC8, HIKESHI, SLC25A16, RABL6, TMEM135, GPT2, ASCC3, HIST3H3, CNKSR1, WAC, KDM5A, ACBD6, CCDC88A, AHDC1, TM4SF20, HERC2, SETD1A, KCNK9, ZBTB40, RALGDS, IMPA1, TANGO2, GMPPA, PGAP2, TRMT1, SLC31A1, CAPN10, PARP1, UBR7, EEF1B2, DIP2B, WDR45B, CCDC115, ADK, COL4A3BP, RGS7, FRY, EXOSC2, PPP2R5D, PRMT9
Specificity
1 %
Genes
100 %
|
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
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
1 %
Genes
100 %
|
BSCL2-Related Neurologic Disorders/Seipinopathy.
By MGZ Medical Genetics Center in Germany.
BSCL2
Specificity
100 %
Genes
100 %
|
Berardinelli-Seip Congenital Lipodystrophy Type 2.
By MGZ Medical Genetics Center in Germany.
BSCL2
Specificity
100 %
Genes
100 %
|
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
MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, MMACHC, PRKCG, APP, PSEN1, TUBB3, SDHAF2, AMACR, HSD17B4, CPS1, CPT2, OPA1, TRMU, WFS1, PSAP, ELOVL4, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GARS, AFG3L2, FOXRED1, RRM2B, NDUFAF2, ALAS2, MFN2, SDHC, PANK2, OPA3, VCP, MECP2, MTO1, COQ9, PDSS2, PDSS1, COQ6, NDUFA12, NDUFB3, NDUFA9, COX14, AGK, ALDH18A1, DGUOK, BOLA3, PDHB, TMEM70, SARS2, NFU1, NDUFAF1, TTC19, MTPAP, NDUFA10, NUBPL, KARS, GFER, TMEM126A, SLC25A12, GAMT, SPR, COX4I2, SDHB, STXBP1, SUCLA2, COQ8A, MRPS22, RARS2, DARS2, SLC25A3, PNPLA2, TUFM, TSFM, MRPS16, REEP1, DNAJC19, POLG2, TK2, SLC25A22, GFM1, PDP1, ALG2, GRN, NDUFA13, COQ2, SPG7, PARK7, PCCB, PCCA, PINK1, GLDC, SCO2, GAD1, TYMP, ETHE1, SQSTM1, PUS1, OTC, PDHA1, TIMM8A, TAZ, ABCB7, AIFM1, ABCD1, ABHD5, HEXA, ALDH3A2, HEXB, PHYH, ALDH7A1, ACOX1, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, CHAT, MOCS2, MOCS1, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, HIBCH, DBT, SUCLG1, DLAT, GALC, IVD, SLC25A15, L2HGDH, GBE1, ETFB, ETFA, ETFDH, GCDH, FXN, LRPPRC, FASTKD2, COX6B1, ASS1, CYP27A1, SLC22A5, SLC25A20, PRKN, APTX, ASL, SLC25A38, TPP1, CLN3, KIF21A, WWOX, PNKD, TACO1, FARS2, HARS2, SLC6A8, MTFMT, PDHX, SDHA, DPAGT1, MGME1, ARSA, ASPA, ARX, GBA, CDKL5, EIF2B1, FOXG1, GJC2, MEF2C, NPC1, NPC2, PCDH19, PLP1, SLC2A1, SYNGAP1, ATM, MRE11, SDHD, CHRNE, CLN6, CLN8, DOK7, MTTP, PEX2, PPT1, PEX7, SACS, TH, MLC1, MCOLN1, PEX1, SLC17A5, SUMF1, TTPA, CLN5, EIF2B5, PHGDH, PLA2G6, RAPSN, GDAP1, DNM2, ATL1, ZFYVE26, EIF2B3, EIF2B2, EIF2B4, SPG11, CSTB, SCN1A, PSEN2, MAPT, APOE, NOTCH3, PPP2R2B, CACNA1A, TOR1A, THAP1, GCH1, LRRK2, SGCE, SNCA, CASR, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, RYR1, SETX, CHMP2B, TARDBP, UBQLN2, MTM1, BICD2, SYNE1, KCNA1, CACNB4, SLC1A3, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, ANO10, SIL1, GRM1, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2, LAMA2, DPM2, CHKB, COL6A3, ATP1A2, ATP1A3, CACNA1H, CHRNB2, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SLC19A3, SCN1B, SCN2A, SYNJ1, STX1B, FOLR1, GABRD, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, LMNB2, MBD5, KCNMA1, SCARB2, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, COL4A1, QARS, RELN, TSEN54, ATP13A2, HNRNPU, SPATA5, EEF1A2, SIK1, SNAP25, SLC13A5, DOCK7, WDR45, SCN8A, DYRK1A, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, RNASEH2A, RNASEH2C, RNASEH2B, ARHGEF9, KDM5C, TREX1, GFAP, VPS13A, CLPP, POLR1C, PNPT1, NLRP3, DNMT1, SOX10, SLC19A2, LARS2, PEX6, NARS2, FUCA1, CACNA1C, CHD8, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, NEU1, HCFC1, LAMP2, TAF1, SLC16A2, CLCN4, CLCN2, EXOSC3, TUBB2A, MARS, TFG, GAN, LYST, TBK1, NKX2-1, FBXL4, DNA2, HNRNPDL, TOR1AIP1, GMPPB, MYBPC1, ERLIN1, REEP2, MAG, CPT1C, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27, STAMBP, FDX2, ACTG2, RNASET2, CCT5, GJA1, NBAS, FTL, CP, COASY, DCAF17, MARS2, COX10, SCO1, CSF1R, PRNP, TPK1, FBXO7, EARS2, MR1, SLC6A3, HADH, APOB, ABCA1, EIF2AK3, VPS35, COQ8B, XK, RANBP2, PRKRA, EPG5, SLC25A46, MICU1, HEPACAM, DNAJC3, PREPL, LRP4, ALG14, IBA57, ARL6IP1, GRIK2, KCNH5, XRCC4, AMPD2, SEPSECS, PYCR2, SLC1A4, PDGFB, SERAC1, CLPB, UBA5, ANO3, HPCA, KCTD17, ECHS1, GNAL, ADCY5, SLC30A10, ACY1, AAAS, RARS, ATP8A2, CACNA1G, SLC52A2, GRID2, NOL3, PIK3R5, PTRH2, RNASEH1, RNF216, SLC6A19, STUB1, DGAT2, LMNB1, SLC52A3, COQ4, RUBCN, PMPCA, TRNT1, POLR3A, POLR3B, PRDM8, CHCHD10, APOPT1, SNX14, PSAT1, RETREG1, FAM126A, COL4A2, NOP56, GLRB, GLRA1, SLC6A5, CIZ1, PDE8B, GPHN, TALDO1, UQCRC2, AIMP1, CLP1, EXOSC8, CACNA1B, NPRL3, ATP5F1A, LARS, CAD, CARS2, ATP2B4, NDUFB9, ZFR, WDR48, USP8, ARSI, LYRM7, ISCA2, FLAD1, ARHGEF15, COX8A, GTPBP3, IARS2, COQ7, NDUFB11, MRPL44, MRPS7, PARS2, TRMT5, TARS2, VARS2, RMND1, TRIT1, LONP1, TANGO2, CCDC115, FLRT1, SLC25A42, KCNA4, SLC25A26, GTPBP2, PPT2, PODXL, STAT2, TXN2, VPS11, PTCD1, KLC4, PITRM1
Specificity
1 %
Genes
100 %
|
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
OPTN, VCP, REEP1, SQSTM1, HEXA, GBE1, SOD1, FIG4, SPG11, MATR3, BSCL2, ALS2, FUS, SETX, DCTN1, TARDBP, ANG, VAPB, UBQLN2, BICD2, SLC52A2, SLC52A3, CHCHD10
Specificity
5 %
Genes
100 %
|
Congenital Generalized Lipodystrophy Sequential Panel.
By FirmaLab in United States.
BSCL2, AGPAT2
Specificity
50 %
Genes
100 %
|
BSCL2-Related Neurologic Disorders/Seipinopathy.
By Bioscientia GmbH Center for Human Genetics in Germany.
BSCL2
Specificity
100 %
Genes
100 %
|
Lipodystrophy congenital generalized type 2.
By Centogene AG - the Rare Disease Company in Germany.
BSCL2
Specificity
100 %
Genes
100 %
|
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
F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, PC, UQCRQ, ARG1, UQCRB, TYROBP, ATP5F1E, ATP7A, ATP7B, ATPAF2, BCKDHA, BCKDHB, BCS1L, BEST1, TWNK, C12orf65, GAA, ADSL, MMACHC, FBLN5, PRKCG, APP, AMN, PAX6, TGFB1, PSEN1, TUBB3, MTR, RET, OPTN, GPR143, INPP5E, MTRR, AMACR, HSD17B4, CPT2, OPA1, KRT5, DTNBP1, WFS1, PSAP, GLB1, CC2D2A, ATP6V0A2, SRD5A3, GNE, HSD17B10, OCRL, ELOVL4, NDP, HPRT1, NHS, TMEM67, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, TTC8, TRIM32, SHH, PRPH2, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GARS, AFG3L2, FOXRED1, RRM2B, NDUFAF2, KIF1B, MFN2, CRYAB, PANK2, HADHA, RAF1, OPA3, FH, VCP, SMPD1, MECP2, CYP11B2, MTO1, COQ9, PDSS2, PDSS1, ACO2, NDUFA12, DDOST, NDUFB3, NDUFA9, AGK, ALDH18A1, HPS1, DNM1L, DGUOK, BOLA3, ACSF3, BLOC1S3, HPS6, HPS5, HPS4, HPS3, TMEM70, NFU1, PCK2, NDUFAF1, CCDC28B, TTC19, MTPAP, NDUFA10, NUBPL, SCP2, KARS, SPTLC2, ABAT, GFER, TLR3, TMEM126A, SLC25A12, DPM3, PGM1, LDHA, ENO3, GAMT, GATM, SPR, STXBP1, SUCLA2, COQ8A, RFT1, TUBA1A, GYS1, RARS2, COG1, COG8, DARS2, TUSC3, SLC25A3, PNPLA2, TSFM, HTRA2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, TK2, SLC25A22, MPDU1, GFM1, FLVCR1, HADHB, DPM1, COG7, ALG9, ATIC, ALG1, AP3B1, ALG8, ALG2, GRN, COQ2, SPG7, ALG12, B4GALT1, PARK7, HMGCS2, PINK1, GCSH, GLDC, AMT, CISD2, SCO2, SLC35A1, GAD1, ALG6, TYMP, MPI, ETHE1, ALG3, PUS1, OTC, FRMD7, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, SLC9A6, BCOR, ABCD1, MMADHC, LMBRD1, ABHD5, HEXA, GM2A, ALDH5A1, ALDH3A2, HEXB, LPIN1, PHYH, SLC35C1, ALDH7A1, ACOX1, PGAM2, PTS, QDPR, PAH, AGXT, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, CHAT, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, DBT, SUCLG1, GALC, ALDH4A1, HK1, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, FXN, LRPPRC, FASTKD2, COX6B1, SLC3A1, ASS1, CYP27A1, SIX6, SLC22A5, SLC25A20, MGAT2, PMM2, PRKN, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, TPP1, CLN3, ALMS1, HESX1, KIF21A, WWOX, SNCB, PNKD, SOD1, NEFH, GSN, TACO1, TMLHE, SLC6A8, MTFMT, SDHA, ABCD4, AGA, AHCY, ARSB, DOLK, DPAGT1, MOGS, HPD, TSHR, FGFR3, AR, ARSA, ASPA, ARX, ELP1, GBA, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, EIF2B1, FOXG1, GJC2, HRAS, IDS, IDUA, IKBKG, KRAS, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, SHOC2, SLC2A1, SMN1, SOS1, WDR62, FGFR2, HDAC8, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, ATM, MRE11, NBN, PTCH1, PHOX2B, MET, GPC3, RAD50, CHRNE, CLN6, CLN8, DOK7, FKTN, NEB, PEX2, PROP1, PPT1, PEX7, SGCA, SGCB, SACS, TH, MLC1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, ABCC8, CAPN3, CLN5, EIF2B5, PLA2G6, RAPSN, TMEM216, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, NTRK1, WNK1, SPTLC1, ATL1, ZFYVE26, EIF2B3, SMN2, EIF2B2, EIF2B4, SPG11, CSTB, SCN1A, PSEN2, MAPT, APOE, C9orf72, AHI1, NOTCH3, CLCN1, FKRP, CAV3, UBA1, CNBP, DYSF, SCN4A, ATXN3, CACNA1A, TOR1A, THAP1, GCH1, NF1, LRRK2, SGCE, SNCA, FGFR1, KCNJ11, CASR, INS, INF2, LAMB2, BSND, CLCNKB, KCNJ1, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, MATR3, SPAST, KIF5A, ATP2A1, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, BAG3, FHL1, SELENON, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, CACNA1S, RYR1, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TPM3, ACTA1, CCDC78, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, SYNE1, SYNE2, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, KCNA1, CACNB4, SLC1A3, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SYT14, ANO10, TDP1, SIL1, GRM1, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2, LAMA2, POMGNT2, COL6A2, COL6A3, LARGE1, COL6A1, MCPH1, ASPM, ATP1A2, ATP1A3, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, SLC35A2, SLC6A1, FOLR1, GABRD, GRIN2B, KCNT1, KCNQ2, KCNQ3, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, KCNMA1, SCARB2, SCN5A, ALG13, ASAH1, TBC1D24, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK, COL4A1, ARFGEF2, CENPJ, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, KRIT1, DNAJC5, MFSD8, ATP13A2, CCM2, PDCD10, KMT2D, RBFOX1, MAGI2, SETD2, TBL1XR1, SLC13A5, NEXMIF, SZT2, WDR45, ST3GAL3, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, SERPINI1, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, VPS13A, TBX1, LBR, ATP2A2, HTRA1, SHANK3, SHANK2, ACTB, ACTG1, CACNA1D, EDN3, ERCC2, NLRP3, DNMT1, EDNRB, SOX10, PRPS1, CHSY1, GJB3, MYH14, MYH9, PEX6, TFAP2A, DIAPH3, ADNP, MID1, MED12, LAMC3, KIRREL3, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TMEM231, ARID1B, CTNNB1, NLGN4X, NLGN3, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, KAT6B, CLCNKA, MVK, FOXP3, NEU1, CHRNG, PHF8, IGBP1, HUWE1, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, FANCB, DKC1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, USP9X, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, ZCCHC12, MSX2, TWIST1, NSUN2, CLCN2, NEDD4L, MTOR, VANGL1, EXOSC3, TSEN34, TSEN2, TGIF1, ZIC2, CEP152, CDON, GLI2, CDK5RAP2, FLVCR2, PCNT, ATR, NAGA, HYAL1, TGFB2, TGFBR1, TGFBR2, SKI, ACTA2, ABCC6, NFIX, RNF135, GLI3, TP63, MAGEL2, KDM6A, MARS, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN, IFT140, BLOC1S6, SLC4A4, ACVRL1, DOCK8, CSF2RB, NKX2-1, PRKAG2, AMPD1, COL12A1, LIMS2, MYF6, TNPO3, MTMR14, HNRNPDL, SLC5A7, POMK, GMPPB, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, PIEZO2, CHMP1A, ERCC6, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, ERLIN1, REEP2, MAG, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, UCHL1, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27, KIF11, CTDP1, PGK1, FGF10, SLC9A9, LHX4, ACE, CD320, ALX4, EP300, RNASET2, EFTUD2, ASXL1, CCT5, GNPAT, CTC1, NOD2, FTL, CP, COASY, DCAF17, BDNF, MASP1, VEGFA, B9D1, ZIC3, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, EOMES, PIK3CA, RAB18, IER3IP1, RBBP8, MYCN, VLDLR, MARS2, COX10, SCO1, COG4, ALG11, COG6, COG5, TMEM165, IL11RA, CSF1R, TREM2, PRNP, SORL1, TPK1, SLC20A2, FBXO7, EARS2, DRD2, SLC6A3, PCBD1, APOA1, B9D2, ABCA1, PTF1A, VPS35, GP1BA, A2M, FGA, MYO5A, VIPAS39, CD36, VAX1, FREM1, ALX1, B3GLCT, PIK3R2, AKT3, AKT1, SLC4A1, RBM8A, NHEJ1, XK, LPIN2, FADD, DST, COL7A1, RANBP2, PRKRA, NOTCH2, TCTN3, UNC93B1, TRAF3, TICAM1, NLRP12, OCLN, NTRK2, PIGL, PDE6D, CSPP1, WNT5A, HEPACAM, RIN2, ZNF423, DYNC2H1, GRIP1, ESCO2, DHH, ROR2, WNT7A, ICK, ARSE, MAMLD1, PREPL, ASNS, SNAP29, CCDC88C, MPDZ, LAMB1, MED17, ZNF335, CEP135, KNL1, CEP63, TTI2, TAF2, NDST1, CRADD, EPB41L1, CACNG2, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, CA8, CD96, ALX3, ORC1, RNU4ATAC, AMPD2, SEPSECS, ASXL3, TUBGCP6, TSHB, TG, TBCE, DNAJC6, ANO3, HPCA, BCAP31, GNAL, ADCY5, SLC30A10, ACY1, AAAS, ATP8A2, ATP2B3, CAMTA1, ATCAY, COL18A1, GRID2, NOL3, PIK3R5, ELOVL5, ERCC5, NAT8L, STUB1, ITM2B, LMNB1, MAPK10, RUBCN, ZNF592, COA5, WDR81, POLR3A, POLR3B, RNF170, CHCHD10, CWF19L1, SCN10A, AP1S1, DSC3, KCNE5, WNT10A, EIF4G1, IL1RN, ARHGAP31, CERS1, ASCL1, GDNF, RETREG1, NGF, ARHGEF10, HOXD10, FAM126A, COL4A2, GYG1, PEX11B, POGZ, TRPS1, IFRD1, NOP56, UMPS, GLRB, TFAP2B, CST3, GLRA1, IGF1, SLC6A5, DRD3, TRPM6, NOS3, HDAC4, CIZ1, LYZ, PDE8B, HPSE2, PLEKHG4, EXOC8, AIMP1, IRX5, WNT3, TUBA4A, MSX1, TMCO1, GIGYF2, SNCAIP, ERCC1, ZBTB16, FTO, CHRM3, EXOSC8, TRPM7, FBXO38, YWHAE, CACNA1B, ALAD, KANK1, UPB1, NECTIN1, PRRX1, NOG, ATP2B4, ZFR, WDR48, USP8, ARSI, STRADA, RBFOX3, NDUFA4, ERBB4, WAC, HERC2, KCNK9, ADK, FLRT1, NXF5, ELK1, NRG1, VDAC1, DNAH9, FZD9, CD59, JRK, ACKR1, CD207, CR1, CNTNAP4, CDK11A, RABGGTA, TNFSF4, FRG1, TAS2R38, CISH, SNX3, ICAM1, YAP1, ADAM10, ZBTB18, EIF4E, SNIP1, AANAT, KCNK18, XBP1, NOS2, TIRAP, TLR5, PRKCH, ALOX5AP, TNF, FCGR2B
Specificity
1 %
Genes
100 %
|
Spastic paraplegia 17, autosomal dominant.
By Centogene AG - the Rare Disease Company in Germany.
BSCL2
Specificity
100 %
Genes
100 %
|
Spastic paraplegia AD panel.
By Centogene AG - the Rare Disease Company in Germany.
HSPD1, REEP1, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, ZFYVE27
Specificity
10 %
Genes
100 %
|
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
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
1 %
Genes
100 %
|
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
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
100 %
|
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
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
100 %
|
Charcot-Marie-Tooth and Sensory Neuropathies Panel.
By CeGaT GmbH in Germany.
TTR, ABHD12, TWNK, C12orf65, FBLN5, OPA1, POLG, GARS, KIF1B, MFN2, HADHA, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)
View the complete list with 64 more genes
TTR, ABHD12, TWNK, C12orf65, FBLN5, OPA1, POLG, GARS, KIF1B, MFN2, HADHA, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1, SEPT9, ELP1, 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, INF2, KIF5A, BSCL2, KIF1A, DYNC1H1, IGHMBP2, SCN9A, DNMT1, SOX10, PRPS1, MYH14, MARS, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, HINT1, TFG, LRSAM1, AARS, MED25, GAN, CTDP1, CCT5, DST, SCN10A, RETREG1, NGF, ARHGEF10, HOXD10, SCN11A, ATL3, DCAF8
Specificity
2 %
Genes
100 %
|
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
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
100 %
|
Single gene testing BSCL2.
By CeGaT GmbH in Germany.
BSCL2
Specificity
100 %
Genes
100 %
|
Hereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel.
By CeGaT GmbH in Germany.
ABHD12, HSPD1, ALDH18A1, REEP1, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, REEP2, CPT1C, ZFYVE27, KANK1, ATP2B4
Specificity
6 %
Genes
100 %
|
BSCL2 - Gene sequencing.
By Clinical Genetics Academic Medical Center in Netherlands.
BSCL2
Specificity
100 %
Genes
100 %
|
BSCL2-Related Neurologic Disorders/Seipinopathy.
By GGA - Galil Genetic Analysis in Israel.
BSCL2
Specificity
100 %
Genes
100 %
|
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
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
100 %
|
Hereditary Spastic Paraplegia.
By Asper Biogene Asper Biogene LLC in Estonia.
HSPD1, REEP1, SPG7, GJC2, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H , (...)
View the complete list with 14 more genes
HSPD1, REEP1, SPG7, GJC2, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, SLC16A2, B4GALNT1, GBA2, CYP2U1, DDHD2, TECPR2, VPS37A, ERLIN2, AP4S1, AP4B1, AP4E1, AP4M1
Specificity
3 %
Genes
100 %
|
Inherited Cardiovascular Diseases and Sudden Death Panel.
By Health in Code in Spain.
HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)
View the complete list with 193 more genes
HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP, DLD, SLC25A4, CRYAB, RAF1, FBN1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22, TSFM, DNAJC19, GFM1, COQ2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, CBS, COX6B1, SLC22A5, PMM2, ALMS1, COL5A1, COL5A2, DOLK, BRAF, DMD, GLA, HRAS, KRAS, LDLR, MAP2K1, NRAS, PLOD1, PTPN11, SHOC2, SOS1, MAP2K2, CBL, SMAD4, ENG, FKTN, SGCA, SGCB, CAPN3, LMNA, PSEN2, NOTCH3, FKRP, CAV3, TTN, DES, MYH7, FLNC, MYOT, LDB3, BSCL2, BAG3, FHL1, MYBPC3, ACTA1, TMEM43, EMD, TCAP, SGCD, KCNJ2, KCND3, LAMA2, KCNH2, SCN1B, HCN4, SCN5A, FLNA, CACNA2D1, TBX1, CACNA1D, KCNE1, KCNQ1, CACNA1C, LAMP2, SPRED1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, PDLIM3, NEBL, ACTC1, MYLK2, TGFB3, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, RANGRF, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL, PRKG1, TBX5, GJA1, CTF1, FHL2, TXNRD2, TMPO, GATA4, CRELD1, CETP, PCSK9, APOB, APOA5, GATA6, NPPA, GJA5, AGPAT2, ANK3, OBSL1, SCN10A, CTNNA3, KCNE5, ADAMTSL4, APOC3, CAVIN4, TBX20, MIB1, CALR3, LRP6, KLF10, TRIM63, SMAD1, FOXD4, FHOD3
Specificity
1 %
Genes
100 %
|
Skeletal Myopathy Panel.
By Health in Code in Spain.
AGL, GAA, DLD, SLC25A4, CRYAB, AGK, COQ2, TAZ, PHKA1, SURF1, SLC22A5, PMM2, DOLK, DMD, HRAS, FKTN, SGCA, SGCB, CAPN3, LMNA , (...)
View the complete list with 26 more genes
AGL, GAA, DLD, SLC25A4, CRYAB, AGK, COQ2, TAZ, PHKA1, SURF1, SLC22A5, PMM2, DOLK, DMD, HRAS, FKTN, SGCA, SGCB, CAPN3, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, MYOT, LDB3, BSCL2, BAG3, FHL1, ACTA1, TMEM43, EMD, TCAP, SGCD, KCNJ2, LAMA2, CACNA1C, LAMP2, KCNE3, TNNI3, PRKAG2, MYL2, MYL3, CAVIN4
Specificity
3 %
Genes
100 %
|
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease.
By Health in Code in Spain.
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK , (...)
View the complete list with 121 more genes
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22, TSFM, GFM1, COQ2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, COX6B1, SLC22A5, PMM2, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, LMNA, CAV3, TTN, DES, MYH7, FLNC, LDB3, BSCL2, BAG3, FHL1, MYBPC3, ACTA1, TMEM43, EMD, TCAP, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1D, KCNE1, KCNQ1, CACNA1C, LAMP2, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, KCNK3, KCNA5, PDLIM3, ACTC1, MYLK2, TGFB3, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, RANGRF, TPM1, TNNT2, JPH2, MYOZ2, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL, TBX5, GJA1, CTF1, FHL2, GATA4, GATA6, NPPA, GJA5, AGPAT2, ANK3, OBSL1, SCN10A, CTNNA3, KCNE5, CAVIN4, CALR3, KLF10, TRIM63, FHOD3
Specificity
1 %
Genes
100 %
|
Cardiomyopathies Panel.
By Health in Code in Spain.
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP, DLD, SLC25A4, CRYAB, RAF1 , (...)
View the complete list with 129 more genes
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22, TSFM, DNAJC19, GFM1, COQ2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, COX6B1, SLC22A5, PMM2, ALMS1, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, FKTN, SGCA, SGCB, LMNA, PSEN2, FKRP, CAV3, TTN, DES, MYH7, FLNC, MYOT, LDB3, BSCL2, BAG3, FHL1, MYBPC3, ACTA1, TMEM43, EMD, TCAP, SGCD, KCNJ2, LAMA2, KCNH2, HCN4, SCN5A, FLNA, TBX1, KCNQ1, LAMP2, SPRED1, NOTCH1, SMAD3, ACTA2, MYH11, KCNJ8, ABCC9, PKP2, ANK2, RYR2, CASQ2, PDLIM3, NEBL, ACTC1, MYLK2, TGFB3, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL, TBX5, GJA1, CTF1, FHL2, TXNRD2, TMPO, GATA4, CRELD1, GATA6, GJA5, AGPAT2, OBSL1, CTNNA3, CAVIN4, TBX20, MIB1, CALR3, KLF10, TRIM63, FOXD4, FHOD3
Specificity
1 %
Genes
100 %
|
Hypertrophic Cardiomyopathy Extended Panel.
By Health in Code in Spain.
TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22 , (...)
View the complete list with 70 more genes
TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22, TSFM, GFM1, COQ2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, COX6B1, SLC22A5, PMM2, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, LMNA, CAV3, TTN, DES, MYH7, FLNC, LDB3, BSCL2, BAG3, FHL1, MYBPC3, ACTA1, TCAP, LAMP2, KCNJ8, ANK2, RYR2, CASQ2, PDLIM3, ACTC1, MYLK2, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, MYPN, TPM1, TNNT2, JPH2, MYOZ2, ACTN2, CSRP3, MYL2, MYL3, VCL, CTF1, FHL2, AGPAT2, OBSL1, CAVIN4, CALR3, KLF10, TRIM63, FHOD3
Specificity
2 %
Genes
100 %
|
Mixed hyperlipidemias.
By Health in Code in Spain.
PPARG, CAVIN1, LEP, LMNA, BSCL2, CAV1, ZMPSTE24, AKT2, INSR, CIDEC, PLIN1, AGPAT2, INSIG2
Specificity
8 %
Genes
100 %
|
Cardiovascular Diseases_General Panel.
By Health in Code in Spain.
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)
View the complete list with 360 more genes
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B, ELN, EYA4, CPT2, WFS1, GNPTAB, GLB1, FOXC1, PITX2, JAG1, NPHP4, PCDH15, DSP, DLD, SLC25A4, GCK, FOXRED1, CRYAB, RAF1, OPA3, FBN1, MTO1, MRPL3, LIAS, GPD1, AGK, DNM1L, TMEM70, FAH, IDH2, CAVIN1, SLC39A13, MRPS22, SLC25A3, PNPLA2, TSFM, DNAJC19, GFM1, MEF2A, COQ2, SCO2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, CBS, PYGM, FXN, COX6B1, SLC22A5, PMM2, ALMS1, ZFHX3, COL5A1, COL5A2, SDHA, DOLK, BRAF, CHD7, CREBBP, DMD, FOXF1, GLA, HRAS, KRAS, LDLR, LEP, LIPA, MAP2K1, NRAS, PLOD1, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, BMPR1A, SMAD4, ENG, ADAMTS2, FKTN, MTTP, SGCA, SGCB, CAPN3, LMNA, PSEN2, APOE, NOTCH3, FKRP, CAV3, NF1, CEL, KCNJ11, INS, PDX1, HNF4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, RYR1, MYBPC3, ACTA1, SYNE1, TMEM43, SYNE2, EMD, TCAP, SGCD, KCNJ2, KCND3, LAMA2, KCNH2, SCN1B, HCN4, SCN5A, FLNA, KMT2D, CACNA2D1, KANSL1, TBX1, CACNA1D, KCNE1, KCNQ1, MED12, FOXP1, EHMT1, CACNA1C, CTNNB1, LZTR1, RASA1, FOXP3, LAMP2, UPF3B, ZDHHC9, SPRED1, RASA2, RRAS, A2ML1, ABCB1, NODAL, FOXH1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FKBP14, CHST14, ACVR1, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, EFEMP2, KCNA5, BMPR2, PDLIM3, ILK, NEBL, ACTC1, MYLK2, TGFB3, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, RANGRF, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, AMPD1, TOR1AIP1, SPEG, VCL, ZMPSTE24, PRKG1, MFAP5, NOS1AP, SALL4, TBX5, EP300, GJA1, FHL2, B3GAT3, ABCG5, ABCG8, CYP2D6, OBSCN, TXNRD2, TMPO, ZIC3, GDF1, GATA4, EVC, IER3IP1, NPC1L1, CITED2, LEFTY2, CRELD1, ACVR2B, CETP, SCARB1, APOA1, PCSK9, LDLRAP1, APOB, APOA5, LPL, LMF1, APOC2, GPIHBP1, ANGPTL3, ABCG1, LCAT, ABCA1, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3, PDGFRA, INSR, CFC1, XK, TDGF1, COL7A1, NPPA, GJA5, NOTCH2, TBC1D4, CIDEC, PLIN1, AGPAT2, ZFPM2, ANK3, OBSL1, FGF12, COA5, SCN10A, CTNNA3, KCNE5, ADAMTSL4, GATA5, APOC3, LIPC, PLTP, CHRM2, CAVIN4, SLCO1B1, EIF2AK4, TBX20, MIB1, CALR3, ASPH, CALM3, MYLIP, SAR1B, TFAP2B, SMAD6, TAB2, TNNI3K, CYP3A4, INSIG2, LRP6, PKP4, KLF10, TRIM63, COA6, MED13L, KCND2, MRPL44, NKX2-6, CYP3A5, MCTP2, IRX4, SMAD1, FOXD4, FHOD3, PERP, PPP1R13L, KCNK17, IRX3, SLC22A8, LPA, MYOM1, PPARA, NNT, SLC25A40, HAND2, GREM2, ISL1, TOPBP1, TRIB1, BMP10, CH25H
Specificity
1 %
Genes
100 %
|
Skeletal myopathy Panel.
By Health in Code in Spain.
AGL, GAA, DLD, SLC25A4, CRYAB, AGK, CAVIN1, SLC25A3, COQ2, SCO2, TAZ, PHKA1, SURF1, FXN, SLC22A5, PMM2, SDHA, DOLK, DMD, HRAS , (...)
View the complete list with 37 more genes
AGL, GAA, DLD, SLC25A4, CRYAB, AGK, CAVIN1, SLC25A3, COQ2, SCO2, TAZ, PHKA1, SURF1, FXN, SLC22A5, PMM2, SDHA, DOLK, DMD, HRAS, FKTN, SGCA, SGCB, CAPN3, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, ACTA1, SYNE1, TMEM43, SYNE2, EMD, TCAP, SGCD, KCNJ2, LAMA2, CACNA1C, LAMP2, KCNE3, TNNI3, PRKAG2, MYL2, MYL3, TOR1AIP1, SPEG, XK, CAVIN4
Specificity
2 %
Genes
100 %
|
Dyslipidemias / Early atherosclerosis.
By Health in Code in Spain.
HNF1A, NEUROD1, PPARG, HNF1B, CPT2, WFS1, PCDH15, GCK, GPD1, CAVIN1, PNPLA2, MEF2A, COQ2, PYGM, LDLR, LEP, LIPA, MTTP, LMNA, APOE , (...)
View the complete list with 64 more genes
HNF1A, NEUROD1, PPARG, HNF1B, CPT2, WFS1, PCDH15, GCK, GPD1, CAVIN1, PNPLA2, MEF2A, COQ2, PYGM, LDLR, LEP, LIPA, MTTP, LMNA, APOE, CEL, KCNJ11, INS, PDX1, HNF4A, BSCL2, RYR1, FOXP3, ABCB1, CAV1, AMPD1, ZMPSTE24, ABCG5, ABCG8, CYP2D6, IER3IP1, NPC1L1, CETP, SCARB1, APOA1, PCSK9, LDLRAP1, APOB, APOA5, LPL, LMF1, APOC2, GPIHBP1, ANGPTL3, ABCG1, LCAT, ABCA1, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3, INSR, TBC1D4, CIDEC, PLIN1, AGPAT2, APOC3, LIPC, PLTP, SLCO1B1, MYLIP, SAR1B, CYP3A4, INSIG2, LRP6, CYP3A5, SLC22A8, LPA, PPARA, SLC25A40, TRIB1, CH25H
Specificity
2 %
Genes
100 %
|
Arrhythmia General Panel.
By Health in Code in Spain.
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB , (...)
View the complete list with 198 more genes
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1, OPA3, MTO1, MRPL3, LIAS, AGK, DNM1L, TMEM70, FAH, IDH2, CAVIN1, MRPS22, SLC25A3, TSFM, DNAJC19, GFM1, COQ2, SCO2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, FXN, COX6B1, SLC22A5, PMM2, ALMS1, ZFHX3, SDHA, DOLK, BRAF, DMD, GLA, HRAS, KRAS, LDLR, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, FKTN, SGCA, SGCB, CAPN3, LMNA, PSEN2, FKRP, CAV3, NF1, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, MYBPC3, ACTA1, SYNE1, TMEM43, SYNE2, EMD, TCAP, SGCD, KCNJ2, KCND3, LAMA2, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1D, KCNE1, KCNQ1, CACNA1C, CTNNB1, LZTR1, LAMP2, SPRED1, RASA2, RRAS, A2ML1, NOTCH1, MYH11, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, KCNK3, KCNA5, PDLIM3, ILK, NEBL, ACTC1, MYLK2, TGFB3, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, RANGRF, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, TOR1AIP1, SPEG, VCL, NOS1AP, TBX5, GJA1, FHL2, OBSCN, TXNRD2, TMPO, GATA4, GATA6, XK, COL7A1, NPPA, GJA5, AGPAT2, ANK3, OBSL1, FGF12, COA5, SCN10A, CTNNA3, KCNE5, GATA5, CHRM2, CAVIN4, TBX20, MIB1, CALR3, CALM3, TNNI3K, PKP4, KLF10, TRIM63, COA6, KCND2, MRPL44, NKX2-6, FOXD4, FHOD3, PERP, PPP1R13L, KCNK17, IRX3, MYOM1, NNT, GREM2
Specificity
1 %
Genes
100 %
|
Hypertrophic cardiomyopathy extended panel.
By Health in Code in Spain.
TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1, MTO1, MRPL3, LIAS , (...)
View the complete list with 84 more genes
TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, IDH2, MRPS22, SLC25A3, TSFM, GFM1, COQ2, SCO2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, FXN, COX6B1, SLC22A5, PMM2, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, LMNA, CAV3, NF1, TTN, DES, MYH7, FLNC, LDB3, BSCL2, BAG3, FHL1, MYBPC3, ACTA1, TCAP, LZTR1, LAMP2, KCNJ8, ANK2, RYR2, CASQ2, PDLIM3, ACTC1, MYLK2, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, MYPN, TPM1, TNNT2, JPH2, MYOZ2, ACTN2, CSRP3, MYL2, MYL3, VCL, FHL2, OBSCN, AGPAT2, OBSL1, COA5, CAVIN4, CALR3, KLF10, TRIM63, COA6, MRPL44, FHOD3, MYOM1
Specificity
1 %
Genes
100 %
|
Cardiomyopathies General Panel.
By Health in Code in Spain.
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1 , (...)
View the complete list with 153 more genes
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1, OPA3, MTO1, MRPL3, LIAS, AGK, DNM1L, TMEM70, FAH, IDH2, MRPS22, SLC25A3, TSFM, DNAJC19, GFM1, COQ2, SCO2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, FXN, COX6B1, SLC22A5, PMM2, ALMS1, SDHA, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, FKTN, SGCA, SGCB, LMNA, PSEN2, FKRP, CAV3, NF1, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, MYBPC3, ACTA1, SYNE1, TMEM43, SYNE2, EMD, TCAP, SGCD, KCNJ2, LAMA2, KCNH2, HCN4, SCN5A, KCNQ1, CTNNB1, LZTR1, LAMP2, SPRED1, RASA2, RRAS, A2ML1, NOTCH1, KCNJ8, ABCC9, PKP2, ANK2, RYR2, CASQ2, PDLIM3, ILK, NEBL, ACTC1, MYLK2, TGFB3, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, TOR1AIP1, SPEG, VCL, FHL2, OBSCN, TXNRD2, TMPO, GATA4, GATA6, XK, COL7A1, AGPAT2, OBSL1, COA5, CTNNA3, GATA5, CHRM2, CAVIN4, TBX20, MIB1, CALR3, TNNI3K, PKP4, KLF10, TRIM63, COA6, MRPL44, FOXD4, FHOD3, PERP, PPP1R13L, MYOM1, NNT
Specificity
1 %
Genes
100 %
|
Invitae Hereditary Spastic Paraplegia Autosomal Dominant Panel.
By Invitae in United States.
HSPD1, ALDH18A1, REEP1, ATL1, SPAST, KIF5A, NIPA1, BSCL2, WASHC5, RTN2, KIF1A, VAMP1
Specificity
9 %
Genes
100 %
|
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
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
100 %
|
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
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
100 %
|
Invitae Charcot-Marie-Tooth Disease Comprehensive Panel.
By Invitae in United States.
GARS, MFN2, HARS, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2 , (...)
View the complete list with 22 more genes
GARS, MFN2, HARS, AIFM1, 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, MORC2, PLEKHG5, TRIM2, PDK3, GNB4, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25
Specificity
3 %
Genes
100 %
|
Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel.
By Invitae in United States.
GARS, MFN2, HARS, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, INF2, BSCL2, DYNC1H1, MORC2 , (...)
View the complete list with 4 more genes
GARS, MFN2, HARS, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, INF2, BSCL2, DYNC1H1, MORC2, GNB4, TFG, LRSAM1, AARS
Specificity
5 %
Genes
100 %
|
Invitae Hereditary Spastic Paraplegia Comprehensive Panel.
By Invitae in United States.
C12orf65, HSPD1, ALDH18A1, REEP1, SPG7, ABCD1, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, RTN2, PNPLA6 , (...)
View the complete list with 23 more genes
C12orf65, HSPD1, ALDH18A1, REEP1, SPG7, ABCD1, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, VAMP1, KDM5C, SLC16A2, NT5C2, KIF1C, B4GALNT1, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ERLIN2, AP4S1, AP4B1, AP4E1, AP4M1
Specificity
3 %
Genes
100 %
|
Spastic paraplegia 17: exon 3 BSCL2 gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
BSCL2
Specificity
100 %
Genes
100 %
|
Spastic paraplegia 17: BSCL2 gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
BSCL2
Specificity
100 %
Genes
100 %
|
Neuronopathy, distal hereditary motor, type V: BSCL2 gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
BSCL2
Specificity
100 %
Genes
100 %
|
CHARCOT- MARIE TOOTH.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
GARS, KIF1B, MFN2, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2 , (...)
View the complete list with 12 more genes
GARS, KIF1B, MFN2, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, INF2, BSCL2, DYNC1H1, PRPS1, LRSAM1, AARS, MED25
Specificity
4 %
Genes
100 %
|
SPASTIC PARAPLEGIA A.D..
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
HSPD1, REEP1, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5, ZFYVE27
Specificity
10 %
Genes
100 %
|
Endocrine Disorders: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR , (...)
View the complete list with 37 more genes
HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, INS, PDX1, HNF4A, BSCL2, FOXP3, POR, ZMPSTE24, NR5A1, IER3IP1, HADH, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK, GLIS3, PTF1A, GATA6, EIF2AK3, INSR, TBC1D4, CIDEC, AGPAT2, CYP19A1, NSMF, PSMC3IP, FIGLA, NOBOX, BMP15, FSHR, TAC3, KISS1, GDF9
Specificity
2 %
Genes
100 %
|
Expanded Neuromuscular Disorders: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)
View the complete list with 58 more genes
GAA, GNE, TRIM32, CRYAB, 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, 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, AMPD3
Specificity
2 %
Genes
100 %
|
Hereditary Neuropathies: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)
View the complete list with 70 more genes
TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM, MRE11, MTTP, PEX7, SACS, SLC12A6, TTPA, 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, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, PNPLA6, KIF1A, SPART, SPG21, DCTN1, DYNC1H1, IGHMBP2, KCNA1, CACNB4, SLC1A3, TDP1, SIL1, KCNC3, ITPR1, FGF14, TTBK2, SPTBN2, SCN9A, DNMT1, PRPS1, PLEKHG5, DNAJB2, LRSAM1, AARS, MED25, GAN, ZFYVE27, CTDP1, RETREG1, NGF, HOXD10
Specificity
2 %
Genes
100 %
|
Endocrine Disorders: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR , (...)
View the complete list with 37 more genes
HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, INS, PDX1, HNF4A, BSCL2, FOXP3, POR, ZMPSTE24, NR5A1, IER3IP1, HADH, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK, GLIS3, PTF1A, GATA6, EIF2AK3, INSR, TBC1D4, CIDEC, AGPAT2, CYP19A1, NSMF, PSMC3IP, FIGLA, NOBOX, BMP15, FSHR, TAC3, KISS1, GDF9
Specificity
2 %
Genes
100 %
|
Expanded Neuromuscular Disorders: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)
View the complete list with 57 more genes
GAA, GNE, TRIM32, CRYAB, 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, 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
100 %
|
Hereditary Neuropathies: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)
View the complete list with 70 more genes
TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM, MRE11, MTTP, PEX7, SACS, SLC12A6, TTPA, 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, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, PNPLA6, KIF1A, SPART, SPG21, DCTN1, DYNC1H1, IGHMBP2, KCNA1, CACNB4, SLC1A3, TDP1, SIL1, KCNC3, ITPR1, FGF14, TTBK2, SPTBN2, SCN9A, DNMT1, PRPS1, PLEKHG5, DNAJB2, LRSAM1, AARS, MED25, GAN, ZFYVE27, CTDP1, RETREG1, NGF, HOXD10
Specificity
2 %
Genes
100 %
|
Lipodystrophy NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
PPARG, CAVIN1, LMNA, BSCL2, CAV1, ZMPSTE24, AKT2, TBC1D4, CIDEC, AGPAT2
Specificity
10 %
Genes
100 %
|
Spastic Paraplegia NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
OPA3, REEP1, SPG7, ABCD1, ACOX1, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, KIF1A, CYP7B1, AP5Z1 , (...)
View the complete list with 5 more genes
OPA3, REEP1, SPG7, ABCD1, ACOX1, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, SLC16A2, ZFYVE27
Specificity
4 %
Genes
100 %
|
Congenital Generalized Lipodystrophy Type 1/2 NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
BSCL2, AGPAT2
Specificity
50 %
Genes
100 %
|
Distal Hereditary Motor Neuropathy NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
ATP7A, GARS, REEP1, FIG4, TRPV4, HSPB8, HSPB1, BSCL2, SETX, DCTN1, MEGF10, IGHMBP2, DNMT1, GAN, SLC5A7
Specificity
7 %
Genes
100 %
|
Charcot Marie Tooth Disease Extended NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
TTR, ATP7A, GARS, KIF1B, MFN2, SPTLC2, REEP1, ELP1, GLA, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...)
View the complete list with 29 more genes
TTR, ATP7A, GARS, KIF1B, MFN2, SPTLC2, REEP1, ELP1, GLA, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, DNM2, LMNA, GJB1, NTRK1, WNK1, SPTLC1, ATL1, BSCL2, KIF1A, DYNC1H1, IGHMBP2, SCN9A, DNMT1, PRPS1, PLEKHG5, DNAJB2, LRSAM1, AARS, MED25, GAN, RETREG1, NGF
Specificity
3 %
Genes
100 %
|
BSCL2.
By Fulgent Genetics Fulgent Genetics in United States.
BSCL2
Specificity
100 %
Genes
100 %
|
Progeria and Progeroid Syndromes Panel.
By Blueprint Genetics in Finland.
RECQL4, B4GALT7, COL3A1, PYCR1, ALDH18A1, BLM, LMNA, BSCL2, ERCC2, ZMPSTE24, ERCC6, GORAB, ERCC4, ERCC8, AGPAT2, WRN, ERCC5
Specificity
6 %
Genes
100 %
|
Spastic Paraplegia Panel.
By Blueprint Genetics in Finland.
ARG1, BTD, C12orf65, HSPD1, AFG3L2, SPR, REEP1, SPG7, ABCD1, PAH, GALC, SLC25A15, L2HGDH, GBE1, FXN, CYP27A1, FARS2, GJC2, PLP1, SACS , (...)
View the complete list with 40 more genes
ARG1, BTD, C12orf65, HSPD1, AFG3L2, SPR, REEP1, SPG7, ABCD1, PAH, GALC, SLC25A15, L2HGDH, GBE1, FXN, CYP27A1, FARS2, GJC2, PLP1, SACS, TH, ATL1, ZFYVE26, SPG11, GCH1, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, PNPLA6, KIF1A, CYP7B1, FA2H, SPART, ALS2, SETX, KDM5C, CTNNB1, SLC16A2, CAPN1, HACE1, C19orf12, B4GALNT1, GBA2, CYP2U1, DDHD2, DDHD1, AP4S1, AP4B1, AP4E1, AP4M1, COASY, MARS2, IBA57, RARS, DARS, ATAD3A
Specificity
2 %
Genes
100 %
|
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
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
2 %
Genes
100 %
|
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
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
4 %
Genes
100 %
|
Comprehensive Metabolism Panel.
By Blueprint Genetics in Finland.
HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)
View the complete list with 414 more genes
HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, GAA, ADSL, HNF1A, MMACHC, PPARG, COL2A1, AMN, HNF1B, MTR, SLC37A4, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, WFS1, PSAP, GNPTAB, GLB1, PRODH, ATP6V0A2, SRD5A3, GNE, HSD17B10, HPRT1, DLD, POLG, SLC25A4, GCK, FOXRED1, RRM2B, NDUFAF2, ALAS2, SLC25A13, MFN2, HADHA, OPA3, FH, SMPD1, COQ9, PDSS2, PDSS1, COQ6, DHODH, DDOST, LIAS, AGK, DNM1L, DGUOK, BOLA3, ACSF3, PDHB, TMEM70, DHDDS, SARS2, NFU1, PHKA2, FAH, HMGCL, TAT, PYGL, G6PC, IDH2, CAVIN1, PHKG2, TMEM126A, DPM3, PGM1, LDHA, ENO3, GAMT, GATM, SUCLA2, COQ8A, RFT1, GYS1, ACAD8, COG1, COG8, TUSC3, SLC25A3, PNPLA2, POLG2, CTSD, ACADSB, TK2, MPDU1, GFM1, HADHB, DPM1, COG7, ALG9, ATIC, ALG1, ALG8, ALG2, UCP2, COQ2, SPG7, ALG12, B4GALT1, GLUD1, PCCB, PCCA, HMGCS2, GCSH, GLDC, AMT, SLC35A1, ALG6, TYMP, MPI, ALG3, D2HGDH, AGPS, OTC, PDHA1, TIMM8A, TAZ, PHKA1, ABCD1, XDH, MMADHC, LMBRD1, TCN2, HEXA, GM2A, SUOX, ALDH5A1, HEXB, LPIN1, PHYH, SLC35C1, NT5C3A, ALDH7A1, CTSK, ACOX1, PHKB, PGAM2, PTS, QDPR, PAH, CUBN, GIF, AGXT, OAT, MPV17, CTSA, ISCU, CPT1A, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFS1, MCEE, MMAB, MMAA, MUT, HIBCH, DBT, MANBA, MAN2B1, MLYCD, SUCLG1, GALC, OXCT1, IVD, SLC25A15, NAGS, L2HGDH, CBS, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, SLC3A1, ASS1, SLC22A5, SLC25A20, MGAT2, PMM2, APTX, ASL, GLRX5, TPP1, CLN3, FECH, PPOX, CPOX, SLC6A8, PDHX, ABCD4, ADA, AGA, AHCY, APRT, ARSB, SUGCT, DOLK, DPAGT1, MOGS, GNMT, HPD, PNP, ARSA, ASPA, GBA, DHCR7, GLA, HRAS, IDS, IDUA, LIPA, NPC1, NPC2, RAI1, SLC2A1, GPC3, CLN6, CLN8, FKTN, CTNS, PEX2, PPT1, PEX7, SERPINA1, SLC7A7, MCOLN1, PEX1, SLC17A5, SUMF1, ABCC8, CLN5, DPYD, LMNA, CLCN1, FKRP, CAV3, DYSF, SCN4A, GCH1, KCNJ11, CASR, PDX1, HNF4A, UMOD, SLC12A3, BSND, CLCNKB, ANO5, MYOT, LDB3, BSCL2, CACNA1S, RYR1, KCNJ2, KCNA1, ANO10, LAMA2, DPM2, NHLRC1, SLC35A2, FOLR1, EPM2A, ALG13, ASAH1, FLNA, MFSD8, ATP13A2, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, COL11A2, PRPS1, PEX6, FUCA1, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, UROS, NEU1, SEC23B, HCFC1, LAMP2, MAGT1, EBP, NAGA, HYAL1, CTSC, ADAMTSL2, ANTXR2, DYM, GNPTG, CNNM4, CAV1, PRKAG2, FBXL4, AMPD1, MYH3, ZMPSTE24, IFIH1, ADAR, PGK1, CD320, GNPAT, TRIM37, NBAS, COG4, ALG11, COG6, COG5, TMEM165, SLC46A1, PCBD1, HADH, SLC2A2, AKT2, PTF1A, B3GLCT, TPMT, INSR, SLC39A4, SLC40A1, SI, TFR2, HAMP, HJV, LIPE, TBC1D4, PLIN1, AGPAT2, REN, SLC25A1, MAN1B1, FAM111A, SERAC1, CLPB, LIPT1, ECHS1, SLC30A10, ACY1, SLC6A19, COQ4, RBCK1, CLDN16, CLDN19, FLNB, PEPD, GYG1, PEX11B, SLC7A9, FXYD2, UMPS, HGD, LCT, FMO3, SLC5A1, UROD, TRPM6, HMBS, PCK1, GPHN, CNNM2, SSR4, EGF, NGLY1, STT3B, STT3A, ABCD3, ALAD, UPB1, DPYS, CTH, FLAD1, MOCOS, COQ7, COQ5, TANGO2, GMPPA, ADK, SLC25A26, SLC6A9, GLUL, NIPA2, PRKAG3
Specificity
1 %
Genes
100 %
|
Congenital and Familial Lipodystrophy Panel.
By Blueprint Genetics in Finland.
PPARG, CAVIN1, LMNA, BSCL2, CAV1, ZMPSTE24, AKT2, LIPE, TBC1D4, PLIN1, AGPAT2
Specificity
10 %
Genes
100 %
|
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
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
100 %
|
Berardinelli-Seip congenital lipodystrophy.
By Bioarray in Spain.
BSCL2
Specificity
100 %
Genes
100 %
|
LIPODYSTROPHY, CONGENITAL GENERALIZED (BERARDINELLI-SEIP).
By Laboratorio de Genetica Clinica SL in Spain.
BSCL2, AGPAT2
Specificity
50 %
Genes
100 %
|
SPASTIC PARAPLEGIA, FAMILIAL (AUTOSOMAL DOMINANT).
By Laboratorio de Genetica Clinica SL in Spain.
HSPD1, REEP1, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, ZFYVE27
Specificity
10 %
Genes
100 %
|
CHARCOT-MARIE-TOOTH : NGS PANEL.
By Laboratorio de Genetica Clinica SL in Spain.
GARS, KIF1B, MFN2, KARS, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A , (...)
View the complete list with 14 more genes
GARS, KIF1B, MFN2, KARS, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, INF2, BSCL2, DYNC1H1, PRPS1, PDK3, LRSAM1, AARS, MED25
Specificity
3 %
Genes
100 %
|
Spastic paraplegia panel, autosomal dominant.
By LifeLabs Genetics in Canada.
POLG, HSPD1, REEP1, POLG2, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, ZFYVE27
Specificity
8 %
Genes
100 %
|
Berardinelli-Seip Congenital Lipodystrophy Type 2 , Sequencing BSCL2 Gene.
By Reference Laboratory Genetics in Spain.
BSCL2
Specificity
100 %
Genes
100 %
|
Familial Spastic Paraplegia Type 17 , Sequencing BSCL2 Gene.
By Reference Laboratory Genetics in Spain.
BSCL2
Specificity
100 %
Genes
100 %
|
Familial Spastic Paraplegia Type 17 , Sequencing Exon 3 BSCL2 Gene.
By Reference Laboratory Genetics in Spain.
BSCL2
Specificity
100 %
Genes
100 %
|
Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes.
By Reference Laboratory Genetics in Spain.
GARS, KIF1B, MFN2, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2 , (...)
View the complete list with 12 more genes
GARS, KIF1B, MFN2, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, INF2, BSCL2, DYNC1H1, PRPS1, LRSAM1, AARS, MED25
Specificity
4 %
Genes
100 %
|
Autosomal Dominant Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 9 Genes.
By Reference Laboratory Genetics in Spain.
HSPD1, REEP1, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5
Specificity
12 %
Genes
100 %
|
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
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
100 %
|
Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes.
By Reference Laboratory Genetics in Spain.
HSPD1, REEP1, SPG7, GJC2, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H , (...)
View the complete list with 2 more genes
HSPD1, REEP1, SPG7, GJC2, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, ALS2
Specificity
5 %
Genes
100 %
|
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
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
100 %
|
Lipodystrophy Related Disorders , Panel Massive Sequencing (NGS) 10 Genes.
By Reference Laboratory Genetics in Spain.
PPARG, CAVIN1, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, CIDEC, PLIN1, AGPAT2
Specificity
10 %
Genes
100 %
|
Spinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes.
By Reference Laboratory Genetics in Spain.
ATP7A, GARS, REEP1, SCO2, SMN1, TRPV4, HSPB8, SMN2, UBA1, BSCL2, DCTN1, VAPB, DYNC1H1, VRK1, IGHMBP2, ASAH1, PLEKHG5, DNAJB2, SLC5A7
Specificity
6 %
Genes
100 %
|
Hereditary Spastic Paraplegia: gene sequencing panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
C12orf65, HSPD1, REEP1, GAD1, GJC2, PLP1, ATL1, ZFYVE26, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, KIF1A, CYP7B1, AP5Z1, FA2H , (...)
View the complete list with 16 more genes
C12orf65, HSPD1, REEP1, GAD1, GJC2, PLP1, ATL1, ZFYVE26, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, SLC16A2, C19orf12, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, VPS37A, ERLIN2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27
Specificity
3 %
Genes
100 %
|
Encephalopathy, Progressive, With Or Without Lipodystrophy; Peld Is also known as ;severe neurodegenerative syndrome due to bscl2 deficiency.