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Mitochondrial Disorders Panel (mtDNA by Sequencing and Deletion/Duplication, 121 Nuclear Genes by Sequencing, 119 Nuclear Genes by Deletion/Duplication)

CPT Code(s): 81440, 81460, 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, APTX, ASS1, ATPAF2, BCKDHA, BCKDHBBCS1L, C10orf2, CABC1, COQ2, COQ9, COX10, COX15, COX4I2, COX6B1, CPT1A, CPT2, CYCS, DARS2, DBTDGUOK, DLAT, DLD, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FASTKD2, FH, FXN, GFER, GFM1HADH, HADHA, HADHB, HMGCL, HMGCS2, HSPD1, LARS2, ISCU, LRPPRC, MCCC2, MFN2, MPV17Kearns-Sayre syndrome (KSS)Leber hereditary optic neuropathy (LHON)Leigh syndromeMitochondrial disorders  nuclear genes sequencing and deletion/duplication assaymitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS)MRPS16, MRPS22, NDUFA1, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5MT-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-TY mtDNA nuclear genes sequencing and deletion/duplibcation assaymyoclonic epilepsy with ragged red fibers (MERRF)NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1, PCneurogenic weakness with ataxia and retinitis pigmentosa (NARP)PCK2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PINK1, POLG, POLG2, PPM1B, PREPL, PUS1, RARS2Pearson syndromeprogressive external ophthalmoplegia (PEO)RRM2B, SCO1, SCO2, SDHAF1, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20SLC25A22, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SUOX, SURF1, TAZ, TIMM8A, TK2TMEM70, TMPO, TRMU,TSFM, TUFM, TYMP, UQCRB, UQCRQ, WFS
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