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Mitochondrial Disorders (mtDNA and 119 Nuclear Genes) Deletion/Duplication

CPT Code(s): 81440, 81465
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, ADCK3, APTX, ASS1, ATPAF2, BCKDHA, BCKDHB, BCS1L, C10orf2, COQ2ABCB7, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, APTX, ASS1, ATPAF2BCKDHA, BCKDHB, BCS1L, C10orf2, CABC1, COQ2, COQ9, COX10, COX15, COX4I2, COX6B1, CPT1A, CPT2, CYCSDARS2, DBT, DGUOK, DLAT, DLD, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1FASTKD2, FH, FXN, GFER, GFM1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSPD1ISCU, LRPPRC, MCCC2, MFN2, MPV17, MRPS16, MRPS22, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3Kearns-Sayre syndrome (KSS)Mitochondrial disorders nucelear genes deletion/duplication assayMT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1MT-TL2, MT-TM, MT-TN,MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TYNDUFAF4, NDUFAF5, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2OPA1, OXCT1, PC, PCK2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PINK1, POLG, POLG2, PPM1B, PREPL, PUS1Pearson syndromeprogressive external ophthalmoplegia (PEO)RARS2, RRM2B, SCO1, SCO2, SDHAF1, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SUOX, SURF1TAZ, TIMM8A, TK2, TMEM70, TMPO, TRMU,TSFM, TUFM, TYMP, UQCRB, UQCRQ, WFS1
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