Glycogen Storage Disease X (GSD10)

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Test Details

AAAS, AADAT, AARS, AARS2, AASS, ABAT, ABCA13, ABCA4, ABCA9, ABCB10, ABCB11, ABCB4, ABCB6, ABCB7, ABCB8, ABCB9, ABCC9, ABCD1, ABCD2, ABCD3, ABCD4, ABCF2, ABHD10, ABHD11, ACAA1, ACAA2, ACACA, ACACB, ACAD10, ACAD11, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACAT2, ACCS, ACE, ACLY, ACN9, ACO1, ACO2, ACOT13, ACOT2, ACOT7, ACOT9, ACOX1, ACOX3, ACP6, ACR, ACSF2, ACSF3, ACSL1, ACSL4, ACSL5, ACSL6, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM4, ACSM5, ACSS1, ACSS3, ACTA1, ACTB, ACTG2, ACTR5, ACYP2, ADAR, ADCK1, ADCK2, ADCK3, ADCK4, ADCK5, ADCY5, ADHFE1, ADNP, ADSL, AFF4, AFG3L2, AGBL5, AGK, AGL, AGMAT, AGPAT4, AGPAT5, AGPS, AGR2, AGXT, AGXT2, AHCY, AHCYL1, AHDC1, AHI1, AIFM1, AIFM2, AIFM3, AIMP1, AK2, AK3, AK4, AKAP1, AKAP10, AKR1B10, AKR1B15, AKR1D1, AKR7A2, ALAS1, ALAS2, ALDH18A1, ALDH1B1, ALDH1L1, ALDH1L2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDH9A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH1, ALKBH3, ALKBH7, ALMS1, AMACR, AMT, ANGEL2, ANO10, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APEX2, APOA1BP, APOC3, APOO, APOOL, APOPT1, APTX, ARF5, ARG1, ARG2, ARHGEF9, ARID1B, ARID2, ARL13B, ARL2, ARL6, ARMC10, ARSA, ARX, ASL, ASNS, ASPA, ASS1, ASXL1, ASXL3, ATAD1, ATAD3A, ATAD3B, ATF5, ATIC, ATL1, ATP10D, ATP13A2, ATP1A2, ATP1A3, ATP2A1, ATP2A2, ATP2C1, ATP5A1, ATP5B, ATP5C1, ATP5D, ATP5E, ATP5F1, ATP5G1, ATP5G2, ATP5G3, ATP5H, ATP5I, ATP5J, ATP5J2, ATP5L, ATP5O, ATP5S, ATP5SL, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP7A, ATP7B, ATP8B1, ATPAF1, ATPAF2, ATPIF1, ATRX, AUH, AURKAIP1, AUTS2, B4GALNT1, B4GALT1, B9D1, BAD, BAG3, BAK1, BBOX1, BBS2, BCAP31, BCAT1, BCAT2, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL2L1, BCL2L13, BCL2L2, BCS1L, BDH1, BEST1, BHMT, BID, BIN1, BLOC1S1, BNIP3, BNIP3L, BOLA1, BOLA3, BPHL, BRAT1, BRD2, BRPF1, BSCL2, BTD, C10ORF10, C10orf2, C12ORF10, C12ORF65, C14ORF159, C14ORF2, C15ORF40, C15ORF48, C15ORF61, C17ORF89, C19orf12, C19ORF52, C19ORF66, C19ORF70, C1QBP, C20ORF24, C21ORF33, C2ORF47, C2ORF69, C2ORF71, C3ORF33, C5orf42, C6ORF136, C6ORF203, C6ORF57, C7ORF55, C8ORF37, C8ORF82, CA4, CA5A, CA5B, CACNA1A, CACNA1E, CACNA1F, CACNA1G, CACNA2D1, CAD, CALM2, CAMTA1, CAPN3, CARKD, CARS2, CASK, CASQ2, CAT, CBL, CBR3, CBR4, CBS, CC2D2A, CCBL2, CCDC109B, CCDC127, CCDC51, CCDC58, CCDC78, CCDC90B, CCT5, CCT7, CDC25C, CDHR1, CDK1, CDKL5, CECR5, CEP164, CEP290, CEP41, CEP89, CERKL, CFHR1, CFL2, CHAMP1, CHAT, CHCHD1, CHCHD3, CHCHD4, CHCHD5, CHCHD6, CHCHD7, CHD2, CHDH, CHKB, CHPT1, CHRM3, CHRNB1, CISD1, CISD2, CISD3, CKB, CKM, CKMT2, CLCN1, CLCN2, CLCNKB, CLDN3, CLIC4, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CLPX, CLRN1, CLYBL, CMC1, CMC2, CMC4, CMPK2, CNGA1, CNGB1, CNGB3, CNTN1, CNTNAP1, CNTNAP2, COA1, COA3, COA4, COA5, COA6, COA7, COASY, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL12A1, COL1A2, COL27A1, COL4A1, COL5A2, COL6A1, COL6A2, COL6A3, COMTD1, COQ10A, COQ10B, COQ2, COQ3, COQ4, COQ5, COQ6, COQ7, COQ9, COX10, COX11, COX14, COX15, COX16, COX17, COX18, COX19, COX20, COX4I1, COX4I2, COX5A, COX5B, COX6A1, COX6A2, COX6B1, COX6B2, COX6C, COX7A1, COX7A2, COX7A2L, COX7B, COX7B2, COX7C, COX8A, COX8C, CP, CPOX, CPS1, CPSF4, CPT1A, CPT1B, CPT1C, CPT2, CRAT, CRB1, CREBBP, CRLS1, CROT, CRY1, CRYZ, CS, CSF1R, CSPP1, CTBP1, CTCF, CTLA4, CTNNB1, CTPS2, CTSD, CUL4B, CYB5A, CYB5B, CYB5R1, CYB5R2, CYB5R3, CYC1, CYCS, CYP11A1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, CYP2U1, CYP7B1, D2HGDH, DAG1, DAP3, DARS, DARS2, DBI, DBT, DCAKD, DDAH1, DDC, DDHD1, DDHD2, DDOST, DDX28, DDX3X, DECR1, DES, DGUOK, DHCR24, DHDDS, DHODH, DHRS1, DHRS4, DHRS7B, DHRSX, DHTKD1, DHX30, DIABLO, DIAPH1, DLAT, DLD, DLST, DMD, DMGDH, DNA2, DNAJA3, DNAJC11, DNAJC12, DNAJC15, DNAJC19, DNAJC28, DNAJC30, DNAJC4, DNAJC6, DNM1, DNM1L, DNM2, DNMT1, DOK7, DOLK, DPAGT1, DPM1, DPM3, DPYD, DSG2, DTYMK, DUS2, DUSP26, DUT, DYNC1H1, DYRK1A, DYSF, EARS2, ECH1, ECHDC1, ECHDC2, ECHDC3, ECHS1, ECI1, ECI2, ECSIT, EEF1A2, EEFSEC, EFHD1, EHHADH, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF5AL1, ELAC2, ELOF1, EMC1, EMC2, EME2, ENDOG, ENO3, EP300, EPG5, EPHX2, ERAL1, ERCC2, ERCC6L2, ERLIN2, ETFA, ETFB, ETFDH, ETHE1, EXOG, EXOSC3, EYA4, EYS, EZH2, FA2H, FABP1, FAH, FAHD1, FAHD2A, FAM126A, FAM136A, FAM161A, FAM162A, FAM185A, FAM195A, FAM210A, FAM210B, FAM213A, FANCA, FARS2, FASN, FASTK, FASTKD1, FASTKD2, FASTKD3, FASTKD5, FBN1, FBP1, FBXL4, FDPS, FDX1, FDX1L, FDXR, FECH, FH, FHIT, FHL1, FIG4, FIS1, FKBP10, FKBP8, FKRP, FKTN, FLAD1, FLNC, FOLR1, FOXP1, FOXRED1, FPGS, FSCN2, FTH1, FTMT, FTSJ2, FUNDC1, FUNDC2, FXN, G6PC, GAA, GABRA1, GABRB2, GABRB3, GAD1, GAD2, GADD45GIP1, GALC, GAMT, GAPDH, GARS, GATAD1, GATAD2B, GATB, GATC, GATM, GBA2, GBAS, GBE1, GCAT, GCDH, GCH1, GCSH, GDAP1, GFAP, GFER, GFM1, GFM2, GHITM, GIMAP5, GJB1, GJB2, GJC2, GK, GLA, GLB1, GLDC, GLOD4, GLRX2, GLRX5, GLS, GLS2, GLUD1, GLYAT, GLYCTK, GMPPA, GMPPB, GNAO1, GNB1, GNG5, GOLPH3, GOT2, GPAM, GPD1, GPD2, GPI, GPT2, GPX1, GPX4, GRHPR, GRIN1, GRIN2A, GRIN2B, GRPEL1, GRPEL2, GRSF1, GSR, GSS, GSTK1, GSTO1, GSTZ1, GTPBP10, GTPBP3, GTPBP6, GUCA1B, GUF1, GUK1, GYG1, GYG2, GYS1, GYS2, HAAO, HADH, HADHA, HADHB, HAGH, HAO2, HARS2, HCCS, HCFC1, HCN1, HDHD3, HEBP1, HECW2, HEMK1, HEPACAM, HEXA, HGSNAT, HIBADH, HIBCH, HIGD1A, HIGD2A, HINT1, HINT2, HINT3, HIVEP2, HK1, HK2, HLCS, HMBS, HMGCL, HMGCS2, HNF1A, HNF4A, HNRNPK, HNRNPU, HOGA1, HRSP12, HSCB, HSD17B10, HSD17B4, HSD17B8, HSD3B7, HSDL1, HSDL2, HSPA9, HSPB7, HSPD1, HSPE1, HTATIP2, HTRA2, HUWE1, IARS2, IBA57, ICT1, IDE, IDH1, IDH2, IDH3A, IDH3B, IDH3G, IDI1, IFI27, IFIH1, IFT172, IGHMBP2, IL1RAPL1, IMMP1L, IMMP2L, IMMT, IMPDH1, IMPG2, INPP5E, INSR, IQSEC2, ISCA1, ISCA2, ISCU, ISOC2, ITGA7, ITPR1, IVD, JUP, KANSL1, KARS, KAT6A, KAT6B, KAT8, KBTBD13, KCNA2, KCNC1, KCNC3, KCNJ10, KCNQ1, KCNQ2, KCNQ3, KCNT1, KCNV2, KDM5C, KDSR, KIAA0100, KIAA0141, KIAA0196, KIAA0391, KIAA1279, KIAA2022, KIF1A, KIF1B, KIF1C, KIF21A, KIF22, KIF5A, KIF7, KITLG, KIZ, KLHL7, KMO, KMT2A, KMT2D, KRT5, KYNU, L1CAM, L2HGDH, LACE1, LACTB, LACTB2, LAMA2, LAMC1, LAMP2, LAP3, LARS, LARS2, LDHA, LDHAL6B, LDHB, LDHD, LETM1, LETM2, LETMD1, LIAS, LIPA, LIPT1, LIPT2, LMBRD1, LMNA, LONP1, LONP2, LRAT, LRPPRC, LYPLA1, LYPLAL1, LYRM1, LYRM2, LYRM4, LYRM5, LYRM7, LYRM9, MACROD1, MAGEL2, MAK, MALSU1, MAOA, MAOB, MAP2K1, MAP3K7, MAR1, MAR2, MAR5, MARS, MARS2, MAVS, MCAT, MCCC1, MCCC2, MCEE, MCOLN1, MCU, MCUR1, MDH1, MDH2, ME1, ME2, ME3, MECP2, MECR, MEF2C, MEFV, MEGF10, MEIS2, MERTK, METAP1D, METTL14, METTL15, METTL17, METTL20, METTL5, METTL8, MFF, MFN1, MFN2, MFSD8, MGARP, MGAT2, MGME1, MGST1, MGST3, MICU1, MICU2, MIEF1, MIEF2, MINOS1, MIPEP, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCOS, MOCS1, MOCS2, MOCS3, MOGS, MORC2, MPC1, MPC2, MPDU1, MPDZ, MPI, MPST, MPV17, MPV17L, MPV17L2, MPZL3, MRM1, MRPL1, MRPL10, MRPL11, MRPL12, MRPL13, MRPL14, MRPL15, MRPL16, MRPL17, MRPL18, MRPL19, MRPL2, MRPL20, MRPL21, MRPL22, MRPL23, MRPL24, MRPL27, MRPL28, MRPL3, MRPL30, MRPL32, MRPL33, MRPL34, MRPL35, MRPL36, MRPL37, MRPL38, MRPL39, MRPL4, MRPL40, MRPL41, MRPL42, MRPL43, MRPL44, MRPL45, MRPL46, MRPL47, MRPL48, MRPL49, MRPL50, MRPL51, MRPL52, MRPL53, MRPL54, MRPL55, MRPL57, MRPL9, MRPS10, MRPS11, MRPS12, MRPS14, MRPS15, MRPS16, MRPS17, MRPS18A, MRPS18B, MRPS18C, MRPS2, MRPS21, MRPS22, MRPS23, MRPS24, MRPS25, MRPS26, MRPS27, MRPS28, MRPS30, MRPS31, MRPS33, MRPS34, MRPS35, MRPS36, MRPS5, MRPS6, MRPS7, MRPS9, MRRF, MRS2, MSRA, MSRB2, MSRB3, MSTO1, MTCH1, MTCH2, MTCP1, MTERF1, MTERF2, MTERF3, MTERF4, MTFMT, MTFP1, MTFR1, MTFR1L, MTG1, MTG2, MTHFD1, MTHFD1L, MTHFD2, MTHFD2L, MTHFR, MTHFS, MTIF2, MTIF3, MTM1, MTO1, MTPAP, MTR, MTRF1, MTRF1L, MTRR, MTTP, MTX1, MTX2, MUL1, MUT, MYBPC3, MYH14, MYH2, MYH6, MYH7, MYL2, MYO6, MYT1L, N6AMT1, NAA10, NADK2, NAGS, NALCN, NARS2, NBAS, NCEH1, NDRG1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA3, NDUFA4, NDUFA5, NDUFA6, NDUFA7, NDUFA8, NDUFA9, NDUFAB1, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB1, NDUFB10, NDUFB11, NDUFB2, NDUFB3, NDUFB4, NDUFB5, NDUFB6, NDUFB7, NDUFB8, NDUFB9, NDUFC1, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEB, NEFL, NEK2, NEK9, NEU4, NF1, NFE2L2, NFIA, NFS1, NFU1, NGLY1, NGRN, NHLRC1, NHS, NIF3L1, NIPA1, NIPSNAP1, NIPSNAP3A, NIPSNAP3B, NIT1, NIT2, NKX2-1, NLN, NLRC4, NLRP3, NLRX1, NME3, NME4, NME6, NMNAT3, NNT, NOA1, NOTCH1, NOTCH3, NPC1, NPHP1, NPHP3, NPL, NR2E3, NR2F1, NR3C2, NRD1, NRF1, NRL, NRXN1, NSD1, NSUN3, NSUN4, NT5C, NT5C2, NT5DC2, NT5DC3, NT5M, NUBPL, NUCB2, NUDT13, NUDT19, NUDT2, NUDT5, NUDT6, NUDT8, NUDT9, OAT, OBSCN, OCIAD1, OCIAD2, OFD1, OGDH, OGDHL, OPA1, OPA3, OPHN1, OPN1LW, OSBPL1A, OSGEPL1, OTC, OXA1L, OXCT1, OXCT2, OXLD1, OXNAD1, OXR1, OXSM, P2RX2, P4HB, PABPC5, PABPN1, PACS1, PACSIN2, PAH, PAICS, PAK7, PAM16, PANK2, PARL, PARS2, PC, PCBD1, PCBD2, PCCA, PCCB, PCDH19, PCK1, PCK2, PCSK9, PDE12, PDE6A, PDE6B, PDE6G, PDF, PDGFRB, PDHA1, PDHA2, PDHB, PDHX, PDK1, PDK2, PDK3, PDK4, PDP1, PDP2, PDPR, PDSS1, PDSS2, PET100, PET117, PEX1, PEX10, PEX11A, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX5L, PEX6, PEX7, PFKM, PGAM2, PGAM5, PGK1, PGM1, PGS1, PHB2, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PI4KA, PICK1, PIEZO2, PIF1, PIGA, PIGB, PIGC, PIGF, PIGG, PIGH, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIGX, PIGY, PIGZ, PISD, PITRM1, PKLR, PLA2G6, PLCB1, PLCE1, PLGRKT, PLP1, PMAIP1, PMM2, PMP22, PMPCA, PMPCB, PNKP, PNPLA2, PNPLA6, PNPLA8, PNPO, PNPT1, POC1A, POGZ, POLDIP2, POLG, POLG2, POLR3A, POLR3B, POLRMT, POMGNT1, PPA2, PPARGC1A, PPARGC1B, PPIF, PPM1K, PPOX, PPP2R1A, PPP2R5D, PPT1, PPTC7, PPWD1, PRCD, PRDM16, PRDX2, PRDX3, PRDX4, PRDX5, PRDX6, PRELID1, PRELID2, PREPL, PRKAA1, PRKAB1, PRKAG2, PRKAR1A, PRODH, PRODH2, PROM1, PROSC, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPS1, PRSS35, PSPH, PSTK, PTCD1, PTCD2, PTCD3, PTEN, PTGES2, PTPMT1, PTPN11, PTPN4, PTRH1, PTRH2, PTS, PURA, PUS1, PUSL1, PXMP2, PXMP4, PYCR1, PYCR2, PYGL, PYGM, QARS, QDPR, QRSL1, QTRT1, RAB11FIP5, RAB24, RAB32, RAB35, RAI1, RAPSN, RARS, RARS2, RBFA, RBP3, RCN2, RDH11, RDH13, RDH14, RECQL4, REEP1, REXO2, RFK, RFT1, RGR, RHO, RHOT1, RHOT2, RMDN1, RMDN3, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNMTL1, ROM1, ROMO1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1L, RPIA, RPL10, RPL10A, RPL34, RPL35A, RPL5, RPS14, RPS15A, RPS18, RPUSD3, RPUSD4, RRM2B, RSAD1, RSPH9, RTN2, RTN4IP1, RYR1, SACS, SAG, SAMHD1, SAMM50, SARDH, SARS2, SATB2, SBDS, SCCPDH, SCN11A, SCN1A, SCN2A, SCN3B, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SDR39U1, SDSL, SECISBP2, SELO, SEMA4A, SEPN1, SEPSECS, SEPT4, SERAC1, SERPINA1, SERPINI1, SETBP1, SETD2, SETD5, SETD9, SFXN1, SFXN2, SFXN3, SFXN4, SFXN5, SGCA, SGCE, SGSH, SH3TC2, SHANK2, SHANK3, SHMT1, SHMT2, SIRT3, SIRT4, SIRT5, SLC13A5, SLC16A1, SLC16A11, SLC16A2, SLC16A7, SLC19A2, SLC19A3, SLC1A3, SLC1A4, SLC22A4, SLC22A5, SLC24A1, SLC25A1, SLC25A10, SLC25A11, SLC25A12, SLC25A13, SLC25A14, SLC25A15, SLC25A16, SLC25A17, SLC25A18, SLC25A19, SLC25A2, SLC25A20, SLC25A21, SLC25A22, SLC25A23, SLC25A24, SLC25A25, SLC25A26, SLC25A27, SLC25A28, SLC25A29, SLC25A3, SLC25A30, SLC25A31, SLC25A32, SLC25A33, SLC25A34, SLC25A35, SLC25A36, SLC25A37, SLC25A38, SLC25A39, SLC25A4, SLC25A40, SLC25A41, SLC25A42, SLC25A43, SLC25A44, SLC25A45, SLC25A46, SLC25A47, SLC25A48, SLC25A5, SLC25A51, SLC25A53, SLC25A6, SLC29A3, SLC2A1, SLC2A2, SLC30A6, SLC30A9, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC38A8, SLC52A2, SLC52A3, SLC6A8, SLC7A14, SLC7A7, SLC7A9, SLC9A6, SLCO1B1, SLIRP, SLMO1, SLMO2, SMAD4, SMARCA2, SMARCB1, SMC3, SMDT1, SNAP29, SND1, SNRNP200, SOD2, SOX10, SOX11, SOX17, SPAST, SPATA19, SPATA20, SPATA5, SPATA7, SPG11, SPG20, SPG21, SPG7, SPIRE1, SPR, SPRYD4, SPTBN2, SPTLC1, SPTLC2, SQRDL, SQSTM1, SRD5A3, SSBP1, SSR4, STAR, STARD7, STOM, STOML1, STOML2, STRADA, STT3A, STT3B, STUB1, STX17, STXBP1, SUCLA2, SUCLG1, SUCLG2, SUGCT, SUOX, SUPV3L1, SURF1, SYNJ2BP, SYT14, TACO1, TAF1, TALDO1, TAMM41, TANGO2, TAP1, TAP2, TARS, TARS2, TAT, TAZ, TBC1D24, TBCD, TBCK, TBRG4, TCAIM, TCF4, TCHP, TCIRG1, TCTN1, TCTN2, TCTN3, TDP1, TDRD7, TDRKH, TECPR2, TEFM, TFAM, TFB1M, TFB2M, TH, THAP1, THEM4, THEM5, THG1L, THNSL1, TIMM10, TIMM10B, TIMM13, TIMM17A, TIMM17B, TIMM21, TIMM22, TIMM44, TIMM50, TIMM8A, TIMM8B, TIMM9, TIMMDC1, TIRAP, TJP2, TK2, TKT, TMBIM4, TMEM11, TMEM126A, TMEM126B, TMEM138, TMEM143, TMEM14C, TMEM165, TMEM177, TMEM186, TMEM205, TMEM216, TMEM237, TMEM261, TMEM65, TMEM67, TMEM70, TMLHE, TNNT1, TOMM20, TOMM22, TOMM34, TOMM40, TOMM40L, TOMM5, TOMM6, TOMM7, TOMM70A, TOP1MT, TOP3A, TOPORS, TOR1A, TPI1, TPK1, TPP1, TRAP1, TRAPPC11, TRAPPC2, TRIAP1, TRIM37, TRIOBP, TRIT1, TRMT1, TRMT10C, TRMT11, TRMT2B, TRMT5, TRMT61B, TRMU, TRNT1, TRPV4, TRUB2, TSEN2, TSEN34, TSEN54, TSFM, TSPO, TST, TSTD1, TSTD3, TTC19, TTC21B, TTC8, TTN, TUBA1A, TUBB2A, TUBB3, TUBB4A, TUFM, TULP1, TUSC3, TXN2, TXNDC12, TXNRD1, TXNRD2, TYMP, TYSND1, UBE3A, UCHL1, UCP1, UCP2, UCP3, UNC13D, UNC80, UNG, UQCC1, UQCC2, UQCC3, UQCR10, UQCR11, UQCRB, UQCRC1, UQCRC2, UQCRFS1, UQCRH, UQCRQ, USH2A, USMG5, USP14, USP9X, VAMP1, VARS2, VDAC1, VDAC2, VDAC3, VMA21, VPS13A, VPS13B, VPS13C, VPS37A, VRK1, VWA8, WAC, WARS2, WDR19, WDR45, WDR81, WFS1, WHSC1, WWOX, XPNPEP3, XRCC6BP1, YARS2, YBEY, YME1L1, YTHDF2, ZADH2, ZAK, ZC4H2, ZEB2, ZFYVE26, ZFYVE27, ZNF408, ZNF423, ZNF513, ZNF680, ZNF682

Molecular confirmation of a clinical diagnosis
Testing of patients suspected of having a mitochondrial disorder
Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.

  • Next-Gen Sequencing

Ordering

J809
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81440x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

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