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Mitochondrial Disorders (mtDNA) Sequencing and Deletion/Duplication

CPT Code(s): 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:
  • Kearns-Sayre syndrome (KSS)Leber hereditary optic neuropathy (LHON)Leigh syndromemitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS)MT-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-TYmtDNA microarray testingmyoclonic epilepsy with ragged red fibers (MERRF)neurogenic weakness with ataxia and retinitis pigmentosa (NARP)Pearson syndromeprogressive external ophthalmoplegia (PEO)
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