Mitochondrial Disorders (121 Nuclear Genes) Sequencing
| CPT Code(s): | 81440 |
| Specimen Required: | Patient Preparation: Collect:Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B). Peripheral blood required. Specimen Preparation:Transport 3 mL whole blood. (Min: 1 mL) Storage/Transport Temperature:Refrigerated. Stability:Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable |
| New York DOH Approval Status: | Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible. |
| Aliases: | ABCB7, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, APTX, ASS1, ATPAF2, BCKDHA, BCKDHB, BCS1L, C10orf2, CABC1COQ2, COQ9, COX10, COX15, COX4I2, COX6B1, CPT1A, CPT2, CYCS, DARS2, DBT, DGUOK, DLAT, DLD, DNAJC19, DNM1LETFA, ETFB, ETFDH, ETHE1, FASTKD2, FH, FXN, GFER, GFM1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSPD1, LARS2, ISCULeigh syndromeLRPPRC, MCCC2, MFN2, MPV17, MRPS16, MRPS22, NDUFA1, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4Mitochondrial disorders nuclear genes sequencing assayNDUFAF5, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1, PC, PCK2, PDHA1Nuclear genes sequencingPDHB, PDHX, PDP1, PDSS1, PDSS2, PINK1, POLG, POLG2, PPM1B, PREPL, PUS1, RARS2, RRM2B, SCO1, SCO2, SDHAF1, SDHBProgressive external ophthalmoplegia (PEO)SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TIMM8A, TK2 , TSFM, TUFM, TYMP, UQCRB, UQCRQ, WFS1SUOX, TMEM70, TMPO, TRMU,TSFM |
