| Test code: | 6104 |
| Type of disorder: | Leukodystrophy |
| Disease(s) tested for: | Leukoencephalopathy with Vanishing White Matter |
| Genes Included: |
EIF2B4, |
| Profiles that contain this test: | Leukoencephalopathy with Vanishing White Matter |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects mutations in the EIF2B4 gene
Typical Presentation: Age of onset ranges from a congenital form through an adult onset form. Neurologic symptoms include ataxia, spasticity and variable optic atrophy. Seizures may be a prominent feature in early onset forms. |
| Methodology: |
Sanger Sequencing
|
| Reference Range: | No mutation 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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