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| Test code: | 207 |
| Type of disorder: | Neuromuscular Disorders |
| Disease(s) tested for: | Myotonic Dystrophy, Type 1, Myotonia Congenita, Sodium Channel Myotonia |
| Genes Included: | DMPK, CLCN1, SCN4A, |
| Tests included: | CLCN1 DNA Sequencing Test DMPK DNA Test (DM1) SCN4A (Myotonia) DNA Sequencing Test |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects CTG repeat expansions in the DMPK gene, and point mutations in the CLCN1 and SCN4A gene Typical Presentation: Adults may present with myotonia, ptosis and muscle wasting. Other symptoms may include frontal balding, cataracts, cardiac complications, infants may present with severe hypotonia, skeletal deformities, developmental delay and mental retardation. 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 , Repeat Expansion Detection by PCR , Southern Blot |
| Reference Range: | No sequence variants detected for CLCN1 and SCN4A genes. DM1 (DMPK) normal: 5-34 CTG repeats |
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: | 81234(1), 81406(2) |
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. |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 21-28 days |
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