| Test code: | 490 |
| Type of disorder: | Neuromuscular Disorders |
| Disease(s) tested for: | Autosomal Dominant Optic Atrophy, Optic Neuropathy |
| Genes Included: |
OPA1, |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects pathogenic variants in the OPA1 gene that are associated with autosomal dominant optic atrophy. This disorder presents in childhood with progressive loss of visual acuity that is usually bilateral, centrocecal scotoma that is typically symmetrical, and bilateral temporal atrophy of the optic nerve. There is considerable variability of clinical presentation both within and between families with visual acuity declining slowly with age in some families, but not others. |
| 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.
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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