Methylmalonic Aciduria and Homocystinuria, cblJ Type

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder

Ordering

554
4 weeks
Solid Tissue (>50 mg Muscle, Liver, Heart, Kidney or Brain-Flash Frozen) | 2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Cultured Fibroblasts (2-T25 Flasks Near Confluence)

Billing

81460x1, 81465x1
Yes
Yes
For price inquiries please email zebras@genedx.com

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Oliveira et al., (2005) Dev Med Child Neurol 47:185-189.
  2. Zhu et al., (2009) Acta Biochim Biophys Sin 41:179-187
  3. Chinnery, P. Gene Reviews (2006) Mitochondrial Disorders Overview.
  4. Tarnopolsky, M and Raha S. (2005) Med Sci Sports Exerc 37:2086-93.
  5. van Adel, B. and Tarnopolsky, M. (2009) J Clin Neuromusc Dis 10:97-121.
  6. Longo, N. (2003) Neurol Clin N Am 21:817- 831.
  7. Bennett S.(2004) Pharmacogenomics 5:433-8.
  8. Chinnery, P. Gene Reviews (2006) Mitochondrial Disorders Overview.
  9. Koenig MK. (2008) Pediatr Neurol, 38:305-313.
  10. Zeviani1 and Di Donato. (2004) Brain, 127: 2153–2172.

Forms and Documents

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.

Ordering

J809
6 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

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

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Ataide, A., Marques, C., Miguel, T., Borges, L., Vicente, A. M., and Oliveira, C. R. (2005) Dev Med Child Neurol 47, 185-9.
  2. Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
  3. Tarnopolsky, M. A., and Raha, S. (2005) Med Sci Sports Exerc 37, 2086-93.
  4. van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
  5. Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
  6. Bai R, Balog A, Higgs J, Retterer K, Arjona D, Juusola J, Vitazka P, Suchy S, Enns GM, Haas R, Goldstein A, Tarnopolsky M, Parikh S, Copeland WC, Niyazov D, Falk MJ, Chung WK, Bale S, Richard G. WES and WMGS for Molecular Diagnosis of Mitochondrial Disord
  7. Pronicka et al. (2016) J Transl Med 14 (1):174 (PMID: 27290639)
  8. Taylor et al. (2014) Jama 312 (1):68-77 (PMID: 25058219)
  9. Retterer et al. (2015) Genet. Med.: (PMID: 26633542)