| Test code: | 474 |
| Type of disorder: | Mitochondrial Disorders |
| Disease(s) tested for: | Mitochondrial Disease |
| Genes Included: | POLG, |
| Profiles that contain this test: | Initial Mitochondrial Evaluation Mitochondrial Encephalomyopathic Evaluation Mitochondrial Hepatoencephalopathic Evaluation Progressive External Ophthalmoplegia Evaluation |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Identifies mutations in the POLG gene related to mitochondrial disease and all allelic disorders. Typical Presentation: Mitochondrial disease is a clinically heterogeneous group of multisystem disorders characterized by muscle weakness and wasting caused by mutations of nuclear or mitochondrial DNA. POLG is associated with a wide spectrum of clinical disorders include PEO phenotype, SANDO phenotype, mild distal muscle atrophy, Alpers Syndrome, hypotonia, liver failure, GI dysmotility, and mtDNA depletion in muscle. Indications for testing: Symptomatic individuals consistent with mitochondrial disease or POLG-related disorders. |
| Methodology: | Sanger Sequencing |
| Reference Range: | No mutations detected |
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
| CPT: | 81406(1) |
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
| Specimen Type: | Whole blood |
| Specimen Stability: | Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable, |
| Specimen Requirements: | 8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum) |
| Instructions: | Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 14-28 days |
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