Mitochondrial Whole Genome Sequence Analysis
| Abbrev Code: | XMISC | ||
| Order Code: | LAB4909 | Order 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 |
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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 |
Interpretive
| Reference Range: | Interpretive report. |
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