Mitochondrial Whole Genome Sequence Analysis

Abbrev Code:XMISC   
Order Code:LAB4909Order Name:Send Outs Misc Test
Synonyms:mtDNA Whole Genome Sequencing; Mitochondrial DNA Whole Genome Sequence Analysis
Methodology:Sequence analysis is performed in both forward and reverse directions
CPT Codes: 81403 x1, 81479 x1
Test Includes:Leber Hereditary Optic Neuropathy (LHON) Mutation Panel; Mitochrondrial Nonsyndromic Hearing Loss and Deafness Mutation Panel, Complex IV (COX) Subunits Panel-Mitochrondrial Genes, Mitochrondrial Cytochrome b Subunit Sequence Analysis, Mitochrondrial ATPase Subunits Sequence Analysis, Mitochrondrial Complex I Subunits Sequence Analysis
Turnaround Time:Specimens are sent to reference laboratory Mon-Thur before 1300 results are reported within 42 days.
Special Instructions:A signed informed consent in the patient's medical record is required. The consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors. A completed requisition form must accompany each sample.
Associated Links:

Genetic Testing Consent Form, BCM Medical Genetics Requisition Form

Collection Instructions

Specimen:Blood or muscle tissue
Optimal Volume:5 mL blood; 50 mg muscle tissue
Minimum\Peds Volume:5 mL blood, 3 mL blood for infants less than 2 years of age; 50 mg muscle tissue
Container:Purple (EDTA)

Processing and Shipping

Specimen Processing:Do not process. Store whole blood at room temperature; store muscle tissue in freezer.
Shipping Instructions:Ship blood at room temperature. Ship muscle tissue on dry ice. Must arrive Mon-Fri within 24 hours of collection.
Test Performed at or Referral Lab Lab Sendouts  (Baylor College of Medicine)
Referral Lab number:3055


Reference Range:Interpretive report.

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