Orders for this test for patients residing in New York state cannot be accepted at this time.
| Test code: | 5506 |
| Type of disorder: | Neuromuscular Disorders |
| Disease(s) tested for: | Myotonic Syndrome |
| Genes Included: |
ATP2A1, CAV3, CLCN1, CNBP, DMPK, HSPG2, SCN4A, |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects sequence variations in 5 genes and repeat expansions in 2 genes known to cause myotonia.
Typical Presentation: Impaired ability to relax skeletal muscles following a contraction. Myotonias may be dystrophic (termed myotonic dystrophy). |
| Methodology: |
Next Generation Sequencing, Repeat Expansion Detection by PCR, Long Read Sequencing
|
| Reference Range: | No mutations detected. DM1 (DMPK) normal: 5-34 CTG repeats. DM2 (CNBP) normal: Less than 177 base pairs |
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: | 81187(1), 81234(1), 81404(1), 81406(2), 81479(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: | 21-28 days |
Home