| Test code: | 5519 |
| Type of disorder: | Neuromuscular Disorders |
| Disease(s) tested for: | Limb Girdle Muscular Dystrophy |
| Genes Included: | ANO5, CAPN3, CAV3, DAG1, DES, DNAJB6, DYSF, FKRP, FKTN, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TRAPPC11, TRIM32, TTN, |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects sequence variations in 23 genes, including duplications/deletions in three of these genes (CAPN3, SGCA and SGCG) in patients with Limb Girdle Muscular Dystrophy (LGMD). LGMD is highly heterogeneous in inheritance, comorbidities, and involvement of other organ systems. Patients usually have proximal weakness in the shoulder and hip muscles (i.e. limb girdle muscles). |
| Methodology: | Next Generation Sequencing, Dosage Analysis |
| Reference Range: | No mutations detected. No deletions or duplications 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.
| CPT: | 81404(3), 81405(7), 81406(6), 81408, 81479 |
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 |
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