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Based on the latest data available SARCOSINEMIA have a estimated birth prevalence of
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Panel Name, Specifity and genes Tested/covered |
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB, SDHC, SEMA4A, SGSH, SHH, SIX6, FOXL2, SLC16A1, SLC22A4, SLC22A5, SLC24A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BRCA1, SLC34A1, SLC35A1, SLC3A1, SLC9A3R1, SLC9A6, SMPD1, SNCB, SOD1, SOD2, SOX2, BTD, SPG7, SPR, SPTLC2, SQSTM1, STAR, STAT1, STAT3, STXBP1, SUCLA2, SUCLG1, SUOX, SURF1, TAT, TAZ, TWNK, HNF1A, HNF1B, ZEB1, TCIRG1, TCN2, TEAD1, TGFB1, TGFBI, ACO2, TIMM8A, TIMP3, TK2, TLR3, TLR4, ACOX1, TNFRSF11A, TNFRSF11B, TNFSF11, TP53, TSFM, TUFM, TULP1, TYR, TYROBP, TYRP1, UBE3A, UCP1, UCP2, UCP3, UNG, UQCRB, USH1C, USH2A, CLRN1, VCP, VHL, BEST1, VSX1, WFS1, WT1, WWOX, XDH, ARL6, LPIN1, RPGRIP1, CA2, CDH23, CA4, SOST, GFM1, CABP4, CACNA1F, MRPS16, ELAC2, SLC25A20, C1QTNF5, HTRA2, SLC25A19, ELOVL4, MRPS22, CDHR1, PINK1, AMN, ABCA12, FYCO1, PCDH15, CASP8, CAT, PRPF31, ANKH, CBS, PUS1, HPS3, KLHL7, ALG9, LRPPRC, HPS4, PRPF6, ABHD12, PANK2, NDUFAF5, RP1L1, APTX, COX4I2, NFU1, USH1G, WHRN, PARK7, TRIM32, LIAS, SLC45A2, KIF1B, MCEE, COQ8A, MFN2, HAX1, HPS5, OPTN, NDUFA13, RIMS1, RRM2B, SP7, DTNBP1, PRPF8, AASS, ADGRV1, SARS2, PDSS1, NT5C3A, INVS, NAGS, MFRP, FKBP10, ALG1, IMPG2, ATP6V0A2, COG7, COG8, RAX, BBS7, ATPAF2, HPS6, NDUFAF1, MMAA, NPHP4, CHAT, MTO1, P3H1, MMAB, KIF21A, ALG12, CHM, RD3, KCNV2, SLC25A22, RDH12, CYCS, TTC8, GLRX5, GPR143, SLC35C1, CACNA2D4, COQ6, CLCN7, NUBPL, NDUFA11, SPATA7, L2HGDH, DHDDS, TPP1, CLN3, TUBA1A, TUBB3, SLC39A13, BCOR, BLOC1S3, AARS2, NDUFAF4, PITPNM3, ABHD5, RARS2, INPP5E, CNGA1, ACAD9, CNGA3, CNGB1, DIABLO, CNGB3, EYS, ADAM9, TSPAN12, OSTM1, TOPORS, CERKL, AGK, COL1A2, COL3A1, COL5A1, COL5A2, FAM20C, COX15, COX6B1, ABAT, LMBRD1, PDSS2, ALG3, ALG6, ALG2, ALG8, CYP4V2, CPOX, CPT1A, ETHE1, CPT2, CRB1, GNE, CRTAP, CRX, CRYAB, NDUFA12, CISD2, GLYCTK, YARS2, BOLA3, DMGDH, MMACHC, FLVCR1, MMADHC, COQ2, CCDC39, CTSD, COQ9, CTSK, TMEM126A, CUBN, TRMU, MTPAP, DARS2, CYB5A, CYBA, REEP1, FAM161A, SRD5A3, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP1B1, TTC19, CYP24A1, SDHAF2, TMEM127, CYP27A1, TMEM70, SLC25A38, CYP27B1, PDZD7, BBS10, ZNF513, HGSNAT, BBS12, C12orf65, AMER1, FOXRED1, DBT, C8orf37, DDOST, ACSF3, MSRB3, XPNPEP3, NDUFAF2, CCDC28B, COX14, D2HGDH, TMEM67, DGUOK, NDUFAF6, DHODH, CYB5R3, LEMD3, IQCB1, DLAT, DLD, CEP290, ADSL, FASTKD2, ANKRD26, CC2D2A, UQCRQ, GNPTAB, DNM1L, ISCU, NDUFAF3, BBS9, PPARGC1B, DPM1, DPM3, RFT1, TUSC3, RILP, DSP, DNAJC19, STRA6, PNPLA2, SNRNP200, SECISBP2, TYMP, AFG3L2, LCA5, AGL, EFEMP1, PRCD, AGPS, ELN, ENO3, SDHAF1, ABCA4, AGXT, PCARE, ETFA, ETFB, ETFDH, EYA1, EYA4, ACSL4, FAH, AIPL1, FBLN5, FBN1, FBP1, AK1, AK2, FECH, AKAP10, FH, ATP8B1, FOXC1, FXN, FSCN2, ALAS2, ALDH3A2, FZD4, G6PC, ALDH4A1, SLC37A4, GAA, ALDH5A1, GAD1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, GARS, ALDOB, GATM, GBE1, GCDH, GCK, GCKR, ABCB11, OPN1MW, GCSH, GFER, CBLIF, GJA3, ALMS1, GK, GLB1, TAP1, GLDC, GLUD1, GM2A, GNAT1, GNAT2, GNS, GOT1, GPD1, GPD2, GPI, ABCB4, AMACR, GPX1, GRM6, GRN, GSN, GUCA1A, GUCA1B, GUCY2D, GUSB, ABCB6, GYS1, GYS2, AMT, ABCB7, HSD17B10, HADHA, HADHB, HAGH, HARS, HBB, HCCS, HESX1, HEXA, HEXB, HIBCH, HK1, HLCS, HMGCL, HMGCS2, HP, HPRT1, HPS1, HSD17B4, HSD3B2, HSPD1, IDH2, IDH3B, AP3B1, IMPDH1, ABCD1, IVD, JAG1, APP, KARS, KCNJ13, KRT12, KRT3, KRT5, LDHA, LDHB, COG1, ARG1, LMX1B, LRAT, LRP5, MAN2B1, MANBA, MAOA, PHOX2A, MC1R, MCCC1, MCCC2, ME2, MECP2, MEF2A, MEN1, MERTK, MGAT2, MKKS, MKS1, TRPM1, MLYCD, ALDH6A1, MOCS1, MOCS2, MPDU1, MPI, MPV17, SEPT9, MTHFR, ASL, MTR, MTRR, MMUT, MUTYH, ASS1, MYO7A, MYOC, NAGLU, NCOA4, NDP, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEFH, NEUROD1, ZFHX3, NHS, NME1, NPHP1, NPHP3, ATIC, NRL, FRMD7, NYX, OAT, OCA2, OCRL, OGDH, OGG1, OPA1, OPA3, ATP5F1E, ACACA, OTC, OTX2, OXCT1, PAH, PRKN, PAX2, PAX6, PC, PCCA, PCCB, ATP7A, ACAD8, ATP7B, PCK2, AIFM1, ALDH7A1, PDE6A, PDE6B, PDE6C, PDE6G, PDHA1, PDHB, SLC26A4, SERPINF1, PFKM, PGAM2, ACADM, AUH, PGM1, PHB, PHKA1, PHKA2, PHKB, PHKG2, PHYH, ACADS, PITX2, PITX3, PLA2G2A, PLOD2, PLOD3, ACADSB, PMM2, PNKD, POLG, POLG2, ACADVL, PPARG, B4GALT1, CTSA, PPIB, PDP1, PPOX, ACAT1, B4GALT7, PPP2R1B, ACAT2, PRKCG, PRODH, PROM1, PSAP, PSEN1, BBS1, BBS2, CAVIN1, PTS, BBS4, BBS5, PYCR1, ALDH18A1, PYGL, PYGM, QDPR, RAF1, BCKDHA, BCKDHB, RB1, OPN1LW, RDH5, PRPH2, RET, RGR
Specificity
1 %
Genes
100 %
|
Comprehensive mitochondrial disorders panel.
By Centogene AG - the Rare Disease Company (Germany).
RNASEL, BCS1L, MRPL3, SARDH, SCO1, SCO2, SCP2, SDHA, SDHB, SDHC, SDHD, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC9A6, SOD2, SPG7, STAR , (...)
View the complete list with 156 more genes
RNASEL, BCS1L, MRPL3, SARDH, SCO1, SCO2, SCP2, SDHA, SDHB, SDHC, SDHD, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC9A6, SOD2, SPG7, STAR, SUCLA2, SUCLG1, SUOX, SURF1, TWNK, ACO2, TIMM8A, TK2, TSFM, TUFM, UNG, UQCRB, GFM1, MRPS16, SLC25A20, HTRA2, SLC25A19, MRPS22, PINK1, PANK2, COX4I2, PARK7, LIAS, KIF1B, MCEE, MFN2, HAX1, LARS2, TIMM44, AASS, SARS2, TMLHE, ATPAF2, NDUFAF1, MMAA, MMAB, SLC25A22, CYCS, NDUFA11, BRIP1, PDHX, ACAD9, DIABLO, AGK, COX10, COX15, COX6B1, ABAT, CPOX, CPT1A, CPT2, DMGDH, COQ2, TRMU, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, DBT, DGUOK, DHODH, DLAT, DLD, CRBN, AFG3L2, AGXT, ETFA, ETFB, ETFDH, ACSL4, AK2, FECH, FH, FXN, ALAS2, ALDH4A1, ALDH5A1, GATM, GCDH, GCSH, GK, GLDC, GLUD1, AMACR, ABCB6, AMT, HADH, ABCB7, HADHA, HADHB, HK1, HLCS, HMGCL, HMGCS2, HSD3B2, HSPA9, HSPD1, IDH2, IDH3B, PDX1, IVD, MAOA, MCCC1, MCCC2, MIP, MLYCD, ALDH6A1, MTRR, MMUT, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OAT, OGG1, OPA1, OPA3, ATP5F1E, OTC, OXCT1, PC, PCCA, PCCB, ACAD8, ATP7B, PCK2, PDHA1, PDHB, ACADM, AUH, ACADS, ACADSB, POLG, POLG2, ACADVL, PDP1, PPOX, ACAT1, PRODH, CAVIN1, ALDH18A1, BCKDHA, BCKDHB
Specificity
1 %
Genes
100 %
|
Sarcosinemia.
By Centogene AG - the Rare Disease Company (Germany).
SARDH
Specificity
100 %
Genes
100 %
|
Nuclear-Mito NGS Panel.
By Fulgent Genetics Fulgent Genetics (United States).
RNASEL, BCS1L, RPL35A, MRPL3, RYR1, RYR2, SACS, ACSM3, SARDH, ATXN7, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCO1, SCO2, SCP2, SDHA, SDHB , (...)
View the complete list with 476 more genes
RNASEL, BCS1L, RPL35A, MRPL3, RYR1, RYR2, SACS, ACSM3, SARDH, ATXN7, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCO1, SCO2, SCP2, SDHA, SDHB, SDHC, SDHD, ACHE, SHMT1, SLC16A1, SLC19A2, SLC22A4, SLC22A5, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC27A4, SLC2A1, SLC3A1, SLC6A8, SPAST, SPG7, SPR, SPTLC2, STAR, CDKL5, SUCLA2, SUCLG1, SUOX, SURF1, ACLY, TAT, TAZ, TSPO, TWNK, TCIRG1, TFAM, ACO2, TIMM8A, TK2, TP53, TPI1, TSFM, TST, TUFM, UBE3A, UCP1, UCP2, UCP3, UNG, UQCRB, UROS, USP24, WFS1, WWOX, AAAS, GFM1, CACNA1A, CACNA1S, CACNA2D1, MRPS16, ELAC2, SLC25A20, HTRA2, SLC25A19, AGXT2, MRPS22, IMMP2L, SIRT1, SIRT3, SIRT5, CASP8, PUS1, LRPPRC, PANK2, NDUFAF5, PAK5, GDAP1, APTX, SUGCT, COX4I2, DNAJC5, NFU1, LIAS, ACSL5, KIF1B, MRPL48, MCEE, NPL, MFN2, TFB1M, MGLL, LARS2, NDUFA13, RRM2B, TIMM44, DTNBP1, AASS, CDC42BPB, AS3MT, MTCH2, SARS2, PDSS1, TXN2, PTGES2, NAGS, TOMM40, TXNRD2, MOCOS, PARL, CLYBL, SPART, LRRK2, PMPCA, ATPAF2, NDUFAF1, CFTR, MMAA, TDP1, CHAT, PACRG, MTO1, MMAB, CHRNA4, CHRNB2, COQ4, CKM, SLC25A22, CYCS, GLRX5, CLCN1, CLCN2, CLCN5, COQ6, CLCN7, CLCNKB, NUBPL, NDUFA11, L2HGDH, TPH2, TPP1, CLN3, CLN5, CLN6, CLN8, AARS2, NDUFAF4, MTHFD1L, RSPH9, FARS2, PDHX, RARS2, ACAD9, DIABLO, CNR1, AGK, COX10, COX15, COX4I1, COX6B1, COX7A2, PEX26, ABAT, PDSS2, CPOX, CPT1A, ETHE1, CPT1B, CPT2, NIPSNAP3A, MED23, NDUFA12, CISD2, GLYCTK, YARS2, SLC25A39, TACO1, BOLA3, DMGDH, MMACHC, RAB11FIP5, MOGS, GPAM, MARS2, HOGA1, MMADHC, COQ2, CTSD, COQ9, TMEM126A, TRMU, DMAC2, MTPAP, DARS2, CYB5A, CYBA, CYBB, REEP1, CYP11A1, CYP11B1, CYP11B2, TTC19, CYP24A1, SDHAF2, CYP27A1, TMEM70, SLC25A38, CYP27B1, NARS2, C12orf65, FOXRED1, DBT, PARP1, ECI1, DDAH1, DDC, ACSF3, DECR1, XPNPEP3, NDUFAF2, COX14, D2HGDH, MFSD8, DGUOK, NDUFAF6, DHODH, COQ5, CYB5R3, DISC1, DLAT, DLD, ADSL, FASTKD2, ANKRD26, MAVS, DMPK, EARS2, ECSIT, UQCRQ, MTFMT, DNM1L, TOP1MT, ISCU, NLRX1, NDUFAF3, PPARGC1B, PREPL, DNAJC19, SECISBP2, TYMP, AFG3L2, ARMS2, AGPS, ELN, ENO1, ENO3, COA5, SDHAF1, AGXT, ETFA, ETFB, ETFDH, FAAH, ACSL4, FASN, FBP1, AK2, FECH, AKAP10, FH, ATP8B1, FOLR1, FOXC1, FOXG1, FPGS, AKR7A2, AKT1, AKT2, FXN, ALAS2, FTH1, ALDH3A2, G6PC, G6PD, ALDH4A1, ALDH5A1, GAD1, GAD2, GALC, GARS, GATM, GCDH, GCK, GCSH, GFER, GK, TAP1, GLDC, GLO1, GLRA1, GLS, GLUD1, GNAS, GNPAT, GPD1, GPD2, GPI, AMACR, GPX1, GPX4, ABCB6, GYS1, GYS2, AMT, H6PD, HADH, ABCB7, HSD17B10, HADHA, HADHB, HARS, HARS2, HCCS, HTT, HIBCH, HK1, HK2, ANK2, HLCS, HMGCL, HMGCS2, HSD17B4, HSD3B1, HSD3B2, HSPA9, HSPB7, HSPD1, IDE, IDH1, IDH2, IDH3B, ABCC8, ABCC9, IMMT, INSR, ABCD1, PDX1, IVD, KARS, KCNA1, KCNE1, KCNE2, KCNH2, KCNJ11, KCNJ2, KCNQ1, KCNQ2, KCNQ3, KRT5, KYNU, LDHA, LDHB, LETM1, ABCD3, MAOA, MAOB, MCCC1, MCCC2, MDH1, MECP2, MEN1, MGST3, MLYCD, ALDH6A1, MOCS1, MOCS2, MRRF, MTHFD1, MTHFS, MTRR, MMUT, MUTYH, ASS1, NDUFA1, NDUFA10, NDUFA2, NDUFA4, NDUFA6, NDUFA7, NDUFA8, NDUFA9, NDUFB1, NDUFB3, NDUFB6, NDUFB9, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NIPSNAP1, NME1, ATIC, NRXN1, NTHL1, OAT, OGG1, OPA1, OPA3, ATP5F1E, ACACA, ACACB, OTC, OXCT1, PAH, PRKN, PC, PCCA, PCCB, ACAD8, ATP7B, PCK1, PCK2, AIFM1, ALDH7A1, ACADL, PDHA1, PDHB, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PGAM2, PGK1, ACADM, AUH, PHB, PHYH, ACADS, PKLR, ACADSB, PNKD, PNMT, POLG, POLG2, ACADVL, POLRMT, PPARGC1A, PDP1, PPOX, ACAT1, PPT1, ACAT2, PRODH, BAX, PTS, PEX19, PEX2, PEX5, PYCR1, ALDH18A1, QDPR, BCAT1, BCAT2, BCKDHA, BCKDHB
Specificity
1 %
Genes
100 %
|
SARDH.
By Fulgent Genetics Fulgent Genetics (United States).
SARDH
Specificity
100 %
Genes
100 %
|
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