Panel Name, Specifity and genes Tested/covered |
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories in United States.
BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)
View the complete list with 617 more genes
BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513, AIPL1, YARS2, ALDOA, ALDOB, USH1G, FBP1, PC, GYS2, USH1C, UQCRQ, ARG1, ANKH, UQCRB, HLCS, TYROBP, ATP5F1E, FKBP10, ATP7A, BTD, ATP7B, ATP8B1, ATPAF2, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, BEST1, TWNK, C12orf65, GAA, ADSL, FOXL2, INVS, OPN1MW, HNF1A, HBB, OPN1LW, NEUROD1, SPATA7, MMACHC, RAX, TYRP1, FBLN5, EYA1, PPARG, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, STAR, STAT1, PRKCG, OCA2, VSX1, SLC34A1, APP, SOST, AMN, SLC45A2, WT1, PAX6, TGFB1, ZEB1, ELAC2, TLR4, CHM, RB1, PSEN1, RILP, TGFBI, PITX3, TUBB3, SDHAF2, LEMD3, HNF1B, MTR, RET, MC1R, TYR, ELN, SLC37A4, PDZD7, EYA4, RP1, OPTN, GPR143, TNFRSF11A, INPP5E, ABCA12, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, KRT5, ABCB6, TRMU, CASP8, PYCR1, CLCN7, DTNBP1, WFS1, COMT, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, SRD5A3, GNE, HSD17B10, OCRL, FOXC1, ELOVL4, PITX2, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, HPRT1, NHS, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, SHH, ME2, PRPH2, DSP, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GCK, GARS, AFG3L2, CYP11B1, FOXRED1, RRM2B, NDUFAF2, KIF1B, ALAS2, SLC25A13, MFN2, CRYAB, SDHC, PANK2, HADHA, RAF1, OPA3, FH, VCP, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, SMPD1, MECP2, CYP11B2, FBN1, SLC26A4, WHRN, MTO1, CDH23, COQ9, PDSS2, PDSS1, COQ6, MRPL3, ACO2, NDUFA12, IDH3B, DHODH, DDOST, HARS, C8orf37, LIAS, NDUFB3, GPD1, NDUFA9, COX14, AGK, ALDH18A1, GOT1, HPS1, DNM1L, DGUOK, BOLA3, ACSF3, GPX1, DIABLO, LDHB, PDHB, ALDH6A1, CAT, HP, BLOC1S3, HPS6, HPS5, HPS4, HPS3, ACAT2, TMEM70, HAGH, PRPF6, SERPINF1, MERTK, DHDDS, SP7, SARS2, SLC24A1, GUCA1B, PDE6A, CCDC39, RGR, CNGB1, NFU1, RS1, PHKA2, FAH, PCK2, NDUFAF1, HMGCL, CCDC28B, HSD3B2, TTC19, GNAT2, MSRB3, MTPAP, XPNPEP3, FYCO1, FAM161A, TAT, NDUFA10, NUBPL, PYGL, G6PC, CYP24A1, CNGA1, NRL, CYP11A1, SCP2, CDHR1, IDH2, KARS, SPTLC2, RP1L1, PDE6G, IMPG2, GPI, GCKR, PCARE, GRK1, LRAT, CAVIN1, TSPAN12, TRPM1, ABAT, PDE6C, GFER, PHKG2, TLR3, TMEM126A, SLC25A12, KLHL7, DPM3, PGM1, LDHA, ENO3, ADAM9, GAMT, GATM, SPR, COX4I2, RDH12, SOD2, AK1, RPL35A, PLOD3, SDHB, SLC39A13, SLC9A3R1, STXBP1, SUCLA2, COQ8A, RFT1, CYCS, MRPS22, TUBA1A, GYS1, RARS2, ACAD8, COG1, COG8, DARS2, TUSC3, P3H1, SLC25A3, HAX1, PNPLA2, CRTAP, TUFM, RD3, PRCD, TSFM, MRPS16, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, HTRA2, SEMA4A, ALDH2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, TOPORS, SECISBP2, TK2, SLC25A22, IQCB1, PLOD2, MPDU1, GFM1, FLVCR1, HADHB, DPM1, PDP1, COG7, ALG9, ATIC, ALG1, RGS9, CERKL, MEF2A, AP3B1, UNG, ALG8, FSCN2, ALG2, GRN, NDUFA13, UCP2, COQ2, SPG7, ALG12, B4GALT1, GLUD1, PARK7, PCCB, PCCA, HMGCS2, PINK1, GCSH, GLDC, AMT, DMGDH, C1QTNF5, CISD2, TAP1, LCA5, SCO2, RIMS1, SLC35A1, GAD1, ALG6, TYMP, EYS, MPI, ETHE1, GUCA1A, SQSTM1, PHOX2A, GJA3, UCP1, UCP3, PPARGC1B, RNASEL, MYO7A, STRA6, ALG3, PITPNM3, CA4, D2HGDH, PUS1, PRPF31, AGPS, PRPF8, RP2, OTC, FRMD7, NYX, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, AMER1, SLC9A6, BCOR, ABCD1, XDH, MMADHC, LMBRD1, ABHD5, TCN2, HEXA, GM2A, SUOX, ALDH5A1, ALDH3A2, SARDH, HEXB, LPIN1, AK2, PHYH, SLC35C1, NT5C3A, ALDH7A1, CTSK, CYP27B1, ACOX1, PHKB, PGAM2, PTS, QDPR, PAH, CUBN, GIF, AGXT, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, OAT, GRM6, MPV17, NME1, CTSA, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, CHAT, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, CYB5R3, CYB5A, HIBCH, DBT, MANBA, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, ALDH4A1, TNFRSF11B, SLC25A15, NAGS, L2HGDH, CBS, HK1, CYBA, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, FXN, GLYCTK, LRPPRC, FASTKD2, COX6B1, SLC3A1, CNGA3, ASS1, CYP27A1, SIX6, SLC22A5, SLC25A20, MGAT2, PMM2, PRKN, PPP2R1B, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, SOX2, SLC25A38, GLRX5, TPP1, CLN3, ALMS1, OGDH, CYP17A1, NCOA4, ANKRD26, HESX1, SLC22A4, RP9, FECH, ZFHX3, PPOX, TMEM127, SEPT9, LMX1B, RPS14, STAT3, OGG1, MYOC, TIMP3, RDH5, KIF21A, FZD4, WWOX, MEN1, COL5A1, COL5A2, SNCB, EFEMP1, GPD2, KRT12, KRT3, CPOX, PAX2, PNKD, AKAP10, PLA2G2A, PHB, TEAD1, SOD1, NEFH, GSN
Specificity
1 %
Genes
100 %
|
Hemolytic Anemia Panel by next-generation sequencing (NGS).
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
ALDOA, ALAS2, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, SLC2A1, G6PD, COL4A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, ABCG5 , (...)
View the complete list with 18 more genes
ALDOA, ALAS2, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, SLC2A1, G6PD, COL4A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, ABCG5, ABCG8, SLC4A1, GYPC, ATP11C, KCNN4, EPB41, SPTB, SPTA1, ANK1, XK, EPB42, RHAG, GCLC, GSR, TPI1, GSS, C15orf41, LPIN2
Specificity
3 %
Genes
100 %
|
Congenital Dyserythropoietic Anemia Panel by next-generation sequencing (NGS).
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
ALAS2, KIF23, GATA1, KLF1, CDAN1, SEC23B, C15orf41, LPIN2
Specificity
13 %
Genes
100 %
|
ALAS2 Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
ALAS2
Specificity
100 %
Genes
100 %
|
Inherited Bone Marrow Failure Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
BRCA2, RUNX1, ALAS2, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, SBF2, GATA1, RPS26, RPS10 , (...)
View the complete list with 41 more genes
BRCA2, RUNX1, ALAS2, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, SBF2, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, FANCB, DKC1, TERC, TERT, PARN, CTC1, WRAP53, NHP2, NOP10, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, ERCC4, SRP72, RPS7, USB1, CSF3R, ELANE, RPL15, G6PC3, VPS45, RPL26, RBM8A, GFI1, CXCR4, ACD, DNAJC21, POT1, NAF1, SAMD9, SAMD9L
Specificity
2 %
Genes
100 %
|
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.
By Genetic Services Laboratory University of Chicago in United States.
BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, ALAS2, RPL35A, HAX1, ANKRD26, FANCC, BLM, PTPN11, RPS19, TINF2, CBL, ATM, NBN , (...)
View the complete list with 59 more genes
BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, ALAS2, RPL35A, HAX1, ANKRD26, FANCC, BLM, PTPN11, RPS19, TINF2, CBL, ATM, NBN, PALB2, CHEK2, BRIP1, GATA2, PAX5, SBDS, CEBPA, RAD51C, MPL, RTEL1, WAS, SBF2, NF1, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, FANCB, DKC1, TERC, TERT, PARN, CTC1, WRAP53, NHP2, NOP10, FANCA, FANCG, FANCF, FANCE, SLX4, FANCL, FANCI, FANCD2, ERCC4, SRP72, RPS7, USB1, IKZF1, ETV6, CSF3R, ELANE, RPL15, G6PC3, VPS45, RPL26, RBM8A, GFI1, CXCR4, ACD, DNAJC21, POT1, NAF1, SAMD9, SAMD9L, UBE2T, RAD51
Specificity
2 %
Genes
100 %
|
Hyperferritinemia Panel.
By Molecular Genetics Laboratory London Health Sciences Centre in Canada.
HFE, ALAS2, SLC25A38, CDAN1, SEC23B, FTL, CP, SLC40A1, TFR2, HAMP, HJV, B2M, FTH1, STEAP3, TF
Specificity
7 %
Genes
100 %
|
X-linked sideroblastic anemia (sequence analysis of ALAS2 gene).
By CGC Genetics in Portugal.
ALAS2
Specificity
100 %
Genes
100 %
|
Porphyria Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
ALAS2, FECH, PPOX, CPOX, UROS, UROD, HMBS, ALAD
Specificity
13 %
Genes
100 %
|
Chronic/Cutaneous Porphyria Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
ALAS2, FECH, PPOX, CPOX, UROS, UROD
Specificity
17 %
Genes
100 %
|
X-linked Sideroblastic Anemia via ALAS2 Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
ALAS2
Specificity
100 %
Genes
100 %
|
ALAS2.
By Department of Clinical Genetics Odense University Hospital in Denmark.
ALAS2
Specificity
100 %
Genes
100 %
|
Hepatic and pancreatic diseases - panels.
By MGZ Medical Genetics Center in Germany.
HFE, ABCB11, ABCB4, ATP7B, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, ALAS2, SLC25A13, SMPD1, DGUOK, FAH, MPV17 , (...)
View the complete list with 49 more genes
HFE, ABCB11, ABCB4, ATP7B, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, ALAS2, SLC25A13, SMPD1, DGUOK, FAH, MPV17, GALT, ASS1, CYP27A1, MKS1, FECH, PPOX, CPOX, CFTR, DHCR7, LIPA, NPC1, NPC2, PEX2, PEX7, SERPINA1, PEX1, PKHD1, TMEM216, CYP7B1, PEX6, TJP2, PEX14, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, UROS, AKR1D1, VPS33B, VIPAS39, BAAT, ABCC2, CLDN1, EPHX1, NOTCH2, HSD3B7, SLCO1B1, SLCO1B3, PEX11B, UROD, HMBS, NR1H4, MYO5B, ALAD, SLC27A5, UTP4
Specificity
2 %
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 %
|
Comprehensive mitochondrial disorders panel.
By Centogene AG - the Rare Disease Company in Germany.
MCCC1, MCCC2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRB, HLCS, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, STAR, MTRR , (...)
View the complete list with 160 more genes
MCCC1, MCCC2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRB, HLCS, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, STAR, MTRR, AMACR, CPS1, CPT2, OPA1, ABCB6, TRMU, PRODH, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, AFG3L2, CYP11B1, KIF1B, ALAS2, SLC25A13, MFN2, SDHC, PANK2, HADHA, OPA3, FH, CYP11B2, MRPL3, ACO2, IDH3B, DHODH, LIAS, NDUFB3, NDUFA9, AGK, ALDH18A1, DGUOK, DIABLO, PDHB, ALDH6A1, SARS2, PCK2, NDUFAF1, HMGCL, HSD3B2, NDUFA10, CYP24A1, CYP11A1, SCP2, IDH2, CAVIN1, ABAT, SLC25A12, GATM, COX4I2, SOD2, SDHB, SUCLA2, CYCS, MRPS22, ACAD8, SLC25A3, HAX1, TUFM, TSFM, MRPS16, HTRA2, ALDH2, POLG2, ACADSB, TK2, SLC25A22, GFM1, HADHB, PDP1, UNG, COQ2, SPG7, GLUD1, PARK7, PCCB, PCCA, HMGCS2, PINK1, GCSH, GLDC, AMT, DMGDH, SCO2, RNASEL, OTC, PDHA1, GK, TIMM8A, ABCB7, MAOA, ACSL4, SLC9A6, SUOX, ALDH5A1, SARDH, AK2, CYP27B1, AGXT, OAT, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, CPT1A, NDUFA1, NDUFA11, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, MCEE, MMAB, MMAA, MUT, DBT, MLYCD, SUCLG1, DLAT, OXCT1, IVD, ALDH4A1, SLC25A15, HK1, ETFB, ETFA, ETFDH, GCDH, FXN, COX6B1, CYP27A1, SLC25A20, FECH, PPOX, OGG1, CPOX, TMLHE, PDHX, SDHA, SDHD, BRIP1, PDX1, LARS2, COX10, SCO1, HADH, GSR, CRBN, BCL2, MIP, NDUFB9, TIMM44, HSPA9
Specificity
1 %
Genes
100 %
|
CentoICU platinum plus.
By Centogene AG - the Rare Disease Company in Germany.
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)
View the complete list with 494 more genes
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, ATP8B1, AUH, BCKDHA, BCKDHB, BCS1L, C12orf65, GAA, ADSL, HNF1A, HBB, MMACHC, EYA1, COL1A1, COL1A2, STAR, WT1, RB1, PSEN1, HNF1B, MTR, RET, SLC37A4, EYA4, ABCA12, SLC16A1, MTRR, HSD17B4, CPS1, CPT2, KRT5, TRMU, WFS1, COMT, PSAP, GNPTAB, GLB1, PRODH, GNE, HSD17B10, JAG1, HPRT1, MKKS, ADGRV1, CEP290, AASS, DLD, POLG, NDUFS4, SLC25A19, GCK, CYP11B1, FOXRED1, NDUFAF2, ALAS2, SLC25A13, HADHA, RAF1, OPA3, FH, SMPD1, MECP2, CYP11B2, FBN1, COQ9, PDSS2, PDSS1, LIAS, ACSF3, PDHB, ALDH6A1, NFU1, FAH, NDUFAF1, HMGCL, HSD3B2, TAT, ABAT, GAMT, GATM, SPR, STXBP1, SUCLA2, ACAD8, P3H1, CRTAP, DNAJC19, CTSD, ACADSB, HADHB, PDP1, UNG, UCP2, COQ2, PCCA, HMGCS2, GLDC, AMT, ETHE1, D2HGDH, OTC, PDHA1, GK, TAZ, AIFM1, SLC9A6, MMADHC, LMBRD1, TCN2, HEXA, SUOX, ALDH5A1, ALDH3A2, HEXB, ALDH7A1, ACOX1, PTS, QDPR, PAH, AGXT, OAT, CTSA, NDUFA2, COX15, NDUFS7, NDUFAF6, CPT1A, GUSB, GALNS, MOCS2, MOCS1, SDHAF1, NDUFA11, NDUFV2, NDUFS2, NDUFAF5, MMAB, MMAA, MUT, HIBCH, DBT, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, NAGS, CBS, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, GLYCTK, LRPPRC, SLC3A1, ASS1, SLC22A5, SLC25A20, PMM2, ASL, SOX2, ALMS1, OGDH, CYP17A1, ANKRD26, HESX1, PAX2, PDHX, ABCD4, ADA, AGA, AHCY, ARSB, SUGCT, DOLK, GNMT, HPD, IL2RG, PNP, TSHR, ARSA, ASPA, CFTR, FANCC, BRAF, CDKL5, CHD7, DHCR7, FOXG1, GJB2, GLA, HRAS, KRAS, LIPA, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PLOD1, POMC, PTPN11, RMRP, RPS19, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, MAP2K2, TSC2, TSC1, NIPBL, NSD1, PHOX2B, GPC3, SBDS, LAMB3, FKTN, G6PD, CTNS, PROP1, DCLRE1C, SERPINA1, SLC7A7, SLC26A2, UGT1A1, LAMA3, SUMF1, WAS, ABCC8, BTK, LAMC2, PHGDH, PKHD1, TGM1, PMP22, EGR2, WNK1, CSTB, SCN1A, GCH1, NR0B1, KCNJ11, CASR, INS, PDX1, HNF4A, POU1F1, BSND, PKD2, PLEC, POMT2, POMT1, LAMA2, MCPH1, ASPM, NHLRC1, KCNH2, ST3GAL5, SCN2A, KCNQ2, KCNQ3, PNPO, EPM2A, BCKDK, CENPJ, RAB3GAP1, STIL, KMT2D, SPTAN1, KCNJ10, TCF4, ATRX, CASK, ZEB2, SALL1, ATP6V1B1, CACNA1D, EDN3, COL11A1, PNPT1, PAX3, KCNQ4, SIX5, PRPS1, KCNE1, KCNQ1, SIX1, GATA3, TJP2, FUCA1, CACNA1C, GATA1, KLF1, MVK, PKLR, UROS, NEU1, CDAN1, MAGT1, FANCB, RPS6KA3, NAA10, COMP, SPRED1, CEP152, CDK5RAP2, PCNT, ATR, CACNB2, GPSM2, MITF, CALM1, AKAP9, KDM6A, SFTPD, DOCK8, ABCA3, SFTPC, SFTPB, PRKAG2, DNA2, RAB3GAP2, F11, SPINK1, TBX19, LHX4, LHX3, CD320, SALL4, TBX5, JAK3, GNAS, F9, F8, ADAMTS13, FANCA, FANCD2, BDNF, AKR1D1, EVC, EVC2, RAB18, IER3IP1, RBBP8, MYCN, SLC46A1, MAT1A, DDC, PCBD1, PSPH, HADH, APOC2, AKT2, GLIS3, PTF1A, EIF2AK3, GP1BA, FGA, FGB, FGG, P2RX1, P2RY12, STIM1, GFI1B, ITGB3, ITGA2B, MASTL, TNFRSF13B, AICDA, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, GNA11, INSR, SLC4A1, ELANE, RBM8A, LAMTOR2, RAC2, NHEJ1, LIG4, PTPRC, SPTB, SPTA1, ANK1, EPB42, GSS, C15orf41, PIK3CD, LRBA, PROS1, ITGB4, ITGA6, COL17A1, COL7A1, IL12RB1, NFKB2, ABCC2, JAGN1, F7, CD19, CR2, CD81, ICOS, PRKDC, TNFRSF13C, NOTCH2, CARD11, IL2RA, TSPYL1, FRAS1, ASNS, ACTN1, GP9, SLC25A1, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG, SERAC1, COA5, PET100, F10, SERPING1, ALOX12B, NIPAL4, CERS3, STS, ALOXE3, PNPLA1, CYP4F22, LIPN, PSAT1, SLCO1B1, SLCO1B3, LRRC8A, BLNK, CD79A, IGLL1, CD79B, F13A1, PEPD, SERPINC1, SLC52A1, TRHR, UMPS, HGD, IGF1, PCK1, IL21R, MALT1, IGF1R, GPHN, UQCRC2, MCM4, CD3G, CORO1A, UPB1, MPC1, UQCC2, ADK, CD247, IRF8, CTPS1, IL2, OPRM1, SOX6, CABS1, LCK, IKBKB, PPM1K, OPLAH
Specificity
1 %
Genes
100 %
|
CentoICU platinum.
By Centogene AG - the Rare Disease Company in Germany.
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)
View the complete list with 494 more genes
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, ATP8B1, AUH, BCKDHA, BCKDHB, BCS1L, C12orf65, GAA, ADSL, HNF1A, HBB, MMACHC, EYA1, COL1A1, COL1A2, STAR, WT1, RB1, PSEN1, HNF1B, MTR, RET, SLC37A4, EYA4, ABCA12, SLC16A1, MTRR, HSD17B4, CPS1, CPT2, KRT5, TRMU, WFS1, COMT, PSAP, GNPTAB, GLB1, PRODH, GNE, HSD17B10, JAG1, HPRT1, MKKS, ADGRV1, CEP290, AASS, DLD, POLG, NDUFS4, SLC25A19, GCK, CYP11B1, FOXRED1, NDUFAF2, ALAS2, SLC25A13, HADHA, RAF1, OPA3, FH, SMPD1, MECP2, CYP11B2, FBN1, COQ9, PDSS2, PDSS1, LIAS, ACSF3, PDHB, ALDH6A1, NFU1, FAH, NDUFAF1, HMGCL, HSD3B2, TAT, ABAT, GAMT, GATM, SPR, STXBP1, SUCLA2, ACAD8, P3H1, CRTAP, DNAJC19, CTSD, ACADSB, HADHB, PDP1, UNG, UCP2, COQ2, PCCA, HMGCS2, GLDC, AMT, ETHE1, D2HGDH, OTC, PDHA1, GK, TAZ, AIFM1, SLC9A6, MMADHC, LMBRD1, TCN2, HEXA, SUOX, ALDH5A1, ALDH3A2, HEXB, ALDH7A1, ACOX1, PTS, QDPR, PAH, AGXT, OAT, CTSA, NDUFA2, COX15, NDUFS7, NDUFAF6, CPT1A, GUSB, GALNS, MOCS2, MOCS1, SDHAF1, NDUFA11, NDUFV2, NDUFS2, NDUFAF5, MMAB, MMAA, MUT, HIBCH, DBT, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, NAGS, CBS, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, GLYCTK, LRPPRC, SLC3A1, ASS1, SLC22A5, SLC25A20, PMM2, ASL, SOX2, ALMS1, OGDH, CYP17A1, ANKRD26, HESX1, PAX2, PDHX, ABCD4, ADA, AGA, AHCY, ARSB, SUGCT, DOLK, GNMT, HPD, IL2RG, PNP, TSHR, ARSA, ASPA, CFTR, FANCC, BRAF, CDKL5, CHD7, DHCR7, FOXG1, GJB2, GLA, HRAS, KRAS, LIPA, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PLOD1, POMC, PTPN11, RMRP, RPS19, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, MAP2K2, TSC2, TSC1, NIPBL, NSD1, PHOX2B, GPC3, SBDS, LAMB3, FKTN, G6PD, CTNS, PROP1, DCLRE1C, SERPINA1, SLC7A7, SLC26A2, UGT1A1, LAMA3, SUMF1, WAS, ABCC8, BTK, LAMC2, PHGDH, PKHD1, TGM1, PMP22, EGR2, WNK1, CSTB, SCN1A, GCH1, NR0B1, KCNJ11, CASR, INS, PDX1, HNF4A, POU1F1, BSND, PKD2, PLEC, POMT2, POMT1, LAMA2, MCPH1, ASPM, NHLRC1, KCNH2, ST3GAL5, SCN2A, KCNQ2, KCNQ3, PNPO, EPM2A, BCKDK, CENPJ, RAB3GAP1, STIL, KMT2D, SPTAN1, KCNJ10, TCF4, ATRX, CASK, ZEB2, SALL1, ATP6V1B1, CACNA1D, EDN3, COL11A1, PNPT1, PAX3, KCNQ4, SIX5, PRPS1, KCNE1, KCNQ1, SIX1, GATA3, TJP2, FUCA1, CACNA1C, GATA1, KLF1, MVK, PKLR, UROS, NEU1, CDAN1, MAGT1, FANCB, RPS6KA3, NAA10, COMP, SPRED1, CEP152, CDK5RAP2, PCNT, ATR, CACNB2, GPSM2, MITF, CALM1, AKAP9, KDM6A, SFTPD, DOCK8, ABCA3, SFTPC, SFTPB, PRKAG2, DNA2, RAB3GAP2, F11, SPINK1, TBX19, LHX4, LHX3, CD320, SALL4, TBX5, JAK3, GNAS, F9, F8, ADAMTS13, FANCA, FANCD2, BDNF, AKR1D1, EVC, EVC2, RAB18, IER3IP1, RBBP8, MYCN, SLC46A1, MAT1A, DDC, PCBD1, PSPH, HADH, APOC2, AKT2, GLIS3, PTF1A, EIF2AK3, GP1BA, FGA, FGB, FGG, P2RX1, P2RY12, STIM1, GFI1B, ITGB3, ITGA2B, MASTL, TNFRSF13B, AICDA, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, GNA11, INSR, SLC4A1, ELANE, RBM8A, LAMTOR2, RAC2, NHEJ1, LIG4, PTPRC, SPTB, SPTA1, ANK1, EPB42, GSS, C15orf41, PIK3CD, LRBA, PROS1, ITGB4, ITGA6, COL17A1, COL7A1, IL12RB1, NFKB2, ABCC2, JAGN1, F7, CD19, CR2, CD81, ICOS, PRKDC, TNFRSF13C, NOTCH2, CARD11, IL2RA, TSPYL1, FRAS1, ASNS, ACTN1, GP9, SLC25A1, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG, SERAC1, COA5, PET100, F10, SERPING1, ALOX12B, NIPAL4, CERS3, STS, ALOXE3, PNPLA1, CYP4F22, LIPN, PSAT1, SLCO1B1, SLCO1B3, LRRC8A, BLNK, CD79A, IGLL1, CD79B, F13A1, PEPD, SERPINC1, SLC52A1, TRHR, UMPS, HGD, IGF1, PCK1, IL21R, MALT1, IGF1R, GPHN, UQCRC2, MCM4, CD3G, CORO1A, UPB1, MPC1, UQCC2, ADK, CD247, IRF8, CTPS1, IL2, OPRM1, SOX6, CABS1, LCK, IKBKB, PPM1K, OPLAH
Specificity
1 %
Genes
100 %
|
Protoporphyria, erythropoietic, X-linked.
By Centogene AG - the Rare Disease Company in Germany.
ALAS2
Specificity
100 %
Genes
100 %
|
Anemia, sideroblastic, X-linked.
By Centogene AG - the Rare Disease Company in Germany.
ALAS2
Specificity
100 %
Genes
100 %
|
Congenital sideroblastic anemia panel.
By Centogene AG - the Rare Disease Company in Germany.
YARS2, ALAS2, PUS1, ABCB7, SLC25A38, GLRX5, SLC19A2, TRNT1
Specificity
13 %
Genes
100 %
|
Nuclear encoded Mitochondriopathies Panel.
By CeGaT GmbH in Germany.
MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)
View the complete list with 263 more genes
MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, STAR, ELAC2, SDHAF2, AMACR, CPS1, CPT2, OPA1, TRMU, WFS1, HSD17B10, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GCK, GARS, AFG3L2, FOXRED1, RRM2B, NDUFAF2, KIF1B, ALAS2, SLC25A13, MFN2, SDHC, PANK2, HADHA, OPA3, FH, MTO1, COQ9, PDSS2, PDSS1, COQ6, MRPL3, ACO2, NDUFA12, IDH3B, DHODH, LIAS, NDUFB3, NDUFA9, COX14, AGK, DNM1L, DGUOK, BOLA3, DIABLO, PDHB, ALDH6A1, TMEM70, SARS2, NFU1, PCK2, NDUFAF1, HMGCL, TTC19, MTPAP, XPNPEP3, NDUFA10, NUBPL, IDH2, KARS, GFER, TMEM126A, SLC25A12, GAMT, GATM, COX4I2, SDHB, SUCLA2, COQ8A, CYCS, MRPS22, RARS2, ACAD8, DARS2, SLC25A3, PNPLA2, TUFM, TSFM, MRPS16, HTRA2, REEP1, DNAJC19, POLG2, ACADSB, TK2, SLC25A22, GFM1, HADHB, PDP1, UNG, COQ2, SPG7, GLUD1, PARK7, PCCB, PCCA, HMGCS2, PINK1, GCSH, GLDC, AMT, DMGDH, CISD2, SCO2, TYMP, ETHE1, D2HGDH, PUS1, OTC, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, MMADHC, AK2, OAT, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, CYB5R3, HIBCH, DBT, MLYCD, SUCLG1, DLAT, OXCT1, IVD, ALDH4A1, SLC25A15, NAGS, L2HGDH, HK1, ETFB, ETFA, ETFDH, GCDH, FXN, LRPPRC, FASTKD2, COX6B1, CYP27A1, SLC22A5, SLC25A20, PRKN, APTX, SLC25A38, GLRX5, OGDH, PPOX, WWOX, PNKD, TACO1, FARS2, HARS2, SLC6A8, MTFMT, PDHX, SDHA, MGME1, RMRP, SDHD, SACS, GDAP1, ATL1, MT-TL1, MT-ATP6, MT-ND1, MT-ND6, MT-ND4, SPAST, KIF5A, SLC33A1, SPART, SLC19A3, SAMHD1, CLPP, PNPT1, SLC19A2, MT-TS1, MT-TS2, LARS2, MT-RNR1, PDK3, DNA2, ERCC6, DDHD1, FDX2, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, COASY, MARS2, COX10, SCO1, MT-TL2, TPK1, EARS2, HADH, IDH1, COQ8B, HOGA1, IBA57, SLC25A1, COX20, SERAC1, COA5, PET100, CHCHD10, DECR1, UQCRC2, YWHAE, ATP5F1A, MPC1, NDUFB9, CYC1, COX7B, MRPL44, LYRM4, RMND1, SFXN4, BCAT2, CRAT, CEP89
Specificity
1 %
Genes
100 %
|
Mitochondrial Diseases (mtDNA and 133 nuclear genes).
By Asper Biogene Asper Biogene LLC in Estonia.
AARS2, ACAD9, ACADL, ACADM, ACADS, ACADVL, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB, HLCS, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SLC37A4 , (...)
View the complete list with 112 more genes
AARS2, ACAD9, ACADL, ACADM, ACADS, ACADVL, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB, HLCS, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SLC37A4, CPT2, OPA1, TRMU, WFS1, DLD, POLG, NDUFS4, HSPD1, SLC25A4, AFG3L2, FOXRED1, RRM2B, NDUFAF2, ALAS2, MFN2, HADHA, OPA3, FH, COQ9, PDSS2, PDSS1, COQ6, NDUFA12, NDUFB3, DNM1L, DGUOK, BOLA3, PDHB, TMEM70, SARS2, NFU1, NDUFAF1, TTC19, MTPAP, NDUFA10, NUBPL, G6PC, GFER, TMEM126A, GAMT, GATM, SUCLA2, COQ8A, MRPS22, RARS2, DARS2, TUFM, TSFM, MRPS16, REEP1, DNAJC19, POLG2, TK2, GFM1, PDP1, COQ2, SPG7, CISD2, SCO2, TYMP, ETHE1, PUS1, PDHA1, TIMM8A, TAZ, ABCB7, AIFM1, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, ISCU, CPT1A, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, SUCLG1, DLAT, ETFB, ETFA, ETFDH, LRPPRC, FASTKD2, COX6B1, SLC25A20, APTX, SOD1, TACO1, HARS2, SLC6A8, MTFMT, PDHX, SDHA, PDX1, SETX, SLC19A3, COX10, SCO1, HADH, COA5, NDUFB9
Specificity
1 %
Genes
100 %
|
Porphyria.
By Asper Biogene Asper Biogene LLC in Estonia.
HFE, ALAS2, FECH, PPOX, CPOX, UROS, UROD, HMBS, ALAD
Specificity
12 %
Genes
100 %
|
Hereditary Sideroblastic Anemia.
By Asper Biogene Asper Biogene LLC in Estonia.
YARS2, ALAS2, PUS1, ABCB7, SLC25A38, GLRX5, SLC19A2, TRNT1, HSPA9
Specificity
12 %
Genes
100 %
|
NGS Panel for Congenital and Acquired Sideroblastic Anemia.
By BLOODGENETICS BLOODGENETICS in Spain.
YARS2, ALAS2, PUS1, ABCB7, SLC25A38, GLRX5, MT-ATP6, SLC19A2, LARS2, SF3B1, TRNT1, STEAP3, NDUFB11, HSPA9
Specificity
8 %
Genes
100 %
|
NGS Panel for Erythropoietic protoporphyria and congenital erythropoietic porphyria.
By BLOODGENETICS BLOODGENETICS in Spain.
ALAS2, FECH, UROS, CLPX
Specificity
25 %
Genes
100 %
|
Anemia, sideroblastic, X-linked: ALAS2 gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
ALAS2
Specificity
100 %
Genes
100 %
|
Nuclear-Mito NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)
View the complete list with 484 more genes
HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB, HLCS, ATP5F1E, ATP7B, ATP8B1, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, MMACHC, STAR, ELAC2, SDHAF2, ELN, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, KRT5, ABCB6, TRMU, CASP8, PYCR1, CLCN7, DTNBP1, WFS1, COMT, PRODH, HSD17B10, FOXC1, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GCK, GARS, AFG3L2, CYP11B1, FOXRED1, RRM2B, NDUFAF2, KIF1B, ALAS2, SLC25A13, MFN2, SDHC, PANK2, HADHA, OPA3, FH, MECP2, CYP11B2, MTO1, COQ9, PDSS2, PDSS1, COQ6, MRPL3, ACO2, NDUFA12, IDH3B, DHODH, HARS, LIAS, NDUFB3, GPD1, NDUFA9, COX14, AGK, ALDH18A1, DNM1L, DGUOK, BOLA3, ACSF3, GPX1, DIABLO, LDHB, PDHB, ALDH6A1, ACAT2, TMEM70, SARS2, NFU1, PCK2, NDUFAF1, HMGCL, HSD3B2, TTC19, MTPAP, XPNPEP3, TAT, NDUFA10, NUBPL, G6PC, CYP24A1, CYP11A1, SCP2, IDH2, KARS, SPTLC2, GPI, ABAT, GFER, TMEM126A, SLC25A12, LDHA, ENO3, GATM, SPR, COX4I2, RPL35A, SDHB, SUCLA2, CYCS, MRPS22, GYS1, RARS2, ACAD8, DARS2, SLC25A3, TUFM, TSFM, MRPS16, HTRA2, ALDH2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, SECISBP2, TK2, SLC25A22, GFM1, HADHB, PDP1, ATIC, UNG, NDUFA13, UCP2, COQ2, SPG7, GLUD1, PCCB, PCCA, HMGCS2, GCSH, GLDC, AMT, DMGDH, CISD2, TAP1, SCO2, GAD1, TYMP, ETHE1, UCP1, UCP3, PPARGC1B, RNASEL, D2HGDH, PUS1, AGPS, OTC, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, ACSL4, ABCD1, MMADHC, SUOX, ALDH5A1, ALDH3A2, SARDH, AK2, PHYH, ALDH7A1, CYP27B1, PGAM2, PTS, QDPR, PAH, AGXT, TCIRG1, OAT, NME1, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, CHAT, MOCS2, MOCS1, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, CYB5R3, CYB5A, HIBCH, DBT, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, ALDH4A1, SLC25A15, NAGS, L2HGDH, HK1, CYBA, ETFB, ETFA, ETFDH, GCDH, FXN, GLYCTK, LRPPRC, FASTKD2, COX6B1, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PRKN, APTX, SLC25A38, GLRX5, TPP1, CLN3, ANKRD26, SLC22A4, FECH, PPOX, OGG1, WWOX, MEN1, GPD2, CPOX, PNKD, AKAP10, PHB, TACO1, FARS2, HARS2, SLC6A8, MTFMT, PDHX, SDHA, SUGCT, MOGS, CPT1B, CFTR, CDKL5, FOXG1, DMPK, SLC2A1, SDHD, CLN6, CLN8, G6PD, CYBB, PEX2, PPT1, PEX7, SACS, PEX1, ABCC8, CLN5, GDAP1, SCN1A, CLCN1, SCN4A, ATXN7, CACNA1A, LRRK2, KCNJ11, PDX1, CLCNKB, SPAST, SPART, CACNA1S, RYR1, KCNJ2, KCNA1, TDP1, CHRNB2, KCNH2, SCN1B, SCN2A, FOLR1, KCNQ2, KCNQ3, CHRNA4, SCN5A, DNAJC5, MFSD8, CACNA2D1, NRXN1, SLC19A2, LARS2, KCNE1, KCNQ1, PEX6, NARS2, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, PKLR, UROS, CLCN2, ABCC9, ANK2, RYR2, KCNE2, RSPH9, TFAM, PGK1, GNPAT, GNAS, TXNRD2, IMMP2L, ACACB, TFB1M, MRRF, NDUFS5, MARS2, COX4I1, NDUFA8, NDUFA7, NDUFV3, NDUFB6, COX10, SCO1, EARS2, DDC, HADH, AKT2, IDH1, INSR, AKT1, TPI1, HOGA1, PREPL, MED23, CLCN5, AAAS, COQ4, PMPCA, COA5, SLC27A4, FTH1, PEX11B, NTHL1, GLRA1, NOS3, BCL2, PCK1, DECR1, ABCD3, GPX4, NDUFB9, MOCOS, DISC1, CDC42BPB, FASN, NDUFA4, COQ5, PARP1, TXN2, MTHFD1, TIMM44, HSPA9, BCAT2, BCAT1, ARMS2, ACHE, TOMM40, TPH2, MDH1, MTHFS, MTHFD1L, FPGS, SHMT1, H6PD, GAD2, GLO1, HIGD2A, HSPB7, HSD3B1, NDUFA6, GLS, ECSIT, ECI1, HK2, NDUFB1, ATP10D, DMAC2, ACSL5, ACSM3, AS3MT, PPARGC1A, PTGES2, POLRMT, RAB11FIP5, MAVS, LETM1, IMMT, IDE, NIPSNAP3A, CLYBL, CHDH, CNR1, SIRT5, SLC25A39, SIRT1, SIRT3, TST, TOP1MT, USP24, NIPSNAP1, CKM, NPL, MGLL, MGST3, AGXT2, AKR7A2, MTCH2, MRPL48, BAX, MAOB, DDAH1, COX7A2, ENO1, GPAM, FAAH, TSPO, KYNU, PARL, ACLY, NDUFC2, NLRX1, PACRG, PAK5, PNMT
Specificity
1 %
Genes
100 %
|
ALAS2.
By Fulgent Genetics Fulgent Genetics in United States.
ALAS2
Specificity
100 %
Genes
100 %
|
X-chromosome High Resolution microarray analysis.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.
ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)
View the complete list with 140 more genes
ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, AMER1, SLC9A6, BCOR, ABCD1, TMLHE, SLC6A8, IL2RG, AR, ARX, CDKL5, DMD, GLA, IDS, IKBKG, PCDH19, PLP1, PORCN, POU3F4, SRY, HDAC8, G6PD, CYBB, WAS, BTK, GJB1, UBA1, NR0B1, SHOX, ANOS1, AVPR2, COL4A5, L1CAM, FHL1, UBQLN2, MTM1, EMD, SLC35A2, ALG13, DCX, PQBP1, FLNA, SRPX2, WDR45, PIGA, OFD1, SMS, ATRX, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, RAB39B, PRPS1, SMPX, MID1, MED12, AP1S2, NLGN4X, NLGN3, GATA1, PHF8, IGBP1, HCFC1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, ZNF41, FANCB, DKC1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, ZC4H2, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KDM6A, CSF2RA, PGK1, SH2D1A, EFNB1, F9, F8, ZIC3, XIAP, XK, EDA, CCNQ, ARSE, MAMLD1, ZNF674, IGSF1, CLCN5, ATP2B3, STS, POLA1, CFP, AMELX, TRAPPC2, VMA21, CHRDL1, COX7B, TBX22, SLC6A14, SAT1, SERPINA7
Specificity
1 %
Genes
100 %
|
Porphyria Panel.
By Blueprint Genetics in Finland.
HFE, ALAS2, FECH, PPOX, CPOX, UROS, UROD, HMBS, ALAD
Specificity
12 %
Genes
100 %
|
Comprehensive Hematology Panel.
By Blueprint Genetics in Finland.
BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)
View the complete list with 219 more genes
BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2, MTR, TYR, SLC37A4, GPR143, CLCN7, DTNBP1, ALAS2, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, GPI, RPL35A, CYCS, HAX1, AP3B1, PUS1, PDHA1, ABCB7, TCN2, AK2, NT5C3A, CUBN, CYB5R3, SLC25A38, ANKRD26, PDHX, FANCC, BLM, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, RPS19, SOS1, TINF2, RIT1, MAP2K2, CBL, ATM, NBN, PALB2, CDKN2A, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, RAD51C, HBA1, G6PD, HBA2, MPL, RTEL1, WAS, NF1, FLNA, ATRX, VPS13B, ACTB, SLC19A2, MYH9, PIEZO1, GATA1, KLF1, RPS26, RPS10, RPL11, RPL5, RPS24, PKLR, CDAN1, SEC23B, MAGT1, FANCB, DKC1, ATR, CTSC, BLOC1S6, LYST, TERC, TERT, PARN, CSF2RA, ABCA3, SFTPC, SFTPB, SH2D1A, F11, VWF, THBD, CTC1, WRAP53, NHP2, NOP10, F9, F8, ADAMTS13, FANCA, FANCG, FANCF, FANCE, ABCG5, ABCG8, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, ERCC4, SRP72, THPO, RPS7, USB1, SLC46A1, GP1BA, FGA, FGB, GGCX, MYO5A, RAB27A, TBXA2R, FGG, P2RY12, NBEAL2, ITGA2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL, JAK2, IKZF1, ETV6, CSF3R, IFNGR2, SLC4A1, GP1BB, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, STXBP2, ITK, RPL15, G6PC3, VPS45, RBM8A, GFI1, LAMTOR2, RAC2, CXCR4, EPB41, SPTB, SPTA1, ANK1, EPB42, RHAG, TPI1, GSS, C15orf41, LPIN2, PROS1, FADD, WIPF1, PROC, JAGN1, VKORC1, F7, ACD, EPOR, PGM3, EPAS1, DNAJC21, SAMD9, SAMD9L, SRC, SLFN14, PRKACG, FYB1, FLI1, ACTN1, TUBB1, GP9, REN, DDX41, EGLN1, CLPB, RNF168, TRNT1, F10, F12, TF, F13A1, DHFR, SERPINC1, F13B, TMPRSS6, MECOM, RPS29, MCFD2, LMAN1, WDR1, SMARCD2, AP3D1, MTHFD1, ERCC6L2, DCLRE1B, GINS1, MRTFA, ARPC1B
Specificity
1 %
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 %
|
Anemia Panel.
By Blueprint Genetics in Finland.
BRCA2, HFE, YARS2, PC, HBB, AMN, MTR, CLCN7, ALAS2, GPI, RPL35A, PUS1, PDHA1, ABCB7, TCN2, NT5C3A, CUBN, CYB5R3, SLC25A38, PDHX , (...)
View the complete list with 58 more genes
BRCA2, HFE, YARS2, PC, HBB, AMN, MTR, CLCN7, ALAS2, GPI, RPL35A, PUS1, PDHA1, ABCB7, TCN2, NT5C3A, CUBN, CYB5R3, SLC25A38, PDHX, FANCC, BLM, RPS19, ATM, NBN, PALB2, BRIP1, SBDS, RAD51C, HBA1, G6PD, HBA2, ATRX, SLC19A2, PIEZO1, GATA1, KLF1, RPS26, RPS10, RPL11, RPL5, RPS24, PKLR, CDAN1, SEC23B, FANCB, ATR, THBD, ADAMTS13, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, ERCC4, RPS7, SLC4A1, RPL15, SPTB, SPTA1, ANK1, EPB42, RHAG, TPI1, GSS, C15orf41, LPIN2, DNAJC21, REN, TF, DHFR, TMPRSS6, RPS29
Specificity
2 %
Genes
100 %
|
Congenital sideroblastic anemia.
By Bioarray in Spain.
ALAS2
Specificity
100 %
Genes
100 %
|
SIDEROBLASTIC ANEMIA.
By Laboratorio de Genetica Clinica SL in Spain.
ALAS2
Specificity
100 %
Genes
100 %
|
ERYTHROPOIETIC PROTOPORPHYRIA.
By Laboratorio de Genetica Clinica SL in Spain.
ALAS2, FECH
Specificity
50 %
Genes
100 %
|
X-Linked Sideroblastic Anemia , Sequencing ALAS2 Gene.
By Reference Laboratory Genetics in Spain.
ALAS2
Specificity
100 %
Genes
100 %
|
Sideroblastic Anemia , Panel Massive Sequencing (NGS) 6 Genes.
By Reference Laboratory Genetics in Spain.
YARS2, ALAS2, PUS1, ABCB7, SLC25A38, GLRX5
Specificity
17 %
Genes
100 %
|
Protoporphyria: gene sequencing.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
ALAS2
Specificity
100 %
Genes
100 %
|