| Test code: | 146 |
| Type of disorder: | Neuromuscular Disorders |
| Disease(s) tested for: | Sodium Channel Myotonia |
| Genes Included: |
SCN4A, |
| Profiles that contain this test: | Early Onset Myotonia Evaluation |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects point mutations in the SCN4A gene
Typical Presentation: Adults may present with myotonia due to cold, exercise, normal or abnormal serum potassium levels.
Indications for testing: Proximal and/or distal stiffness or weakness. Non-dystrophic, non-syndromic myotonia with mild hypertrophy. Dystrophic but non-syndromic myotonia for differential.
|
| Methodology: |
Next Generation 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: | 21-28 days |
Home