| Test code: | 6521 |
| Type of disorder: | Motor Neuron Disorders |
| Disease(s) tested for: | Spinal Muscular Atrophy (SMA) |
| Genes Included: | BICD2, DYNC1H1, GARS, HSPB1, HSPB3, HSPB8, IGHMBP2, TRPV4, UBA1, VRK1, |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Spinal muscular atrophy is a family of rare disorders in which muscle denervation causes atrophy of muscle. Consider this test for patients with an atypical clinical presentation or normal SMN gene testing. This test includes sequencing of 10 genes including BICD2, DYNC1H1, GARS, HSPB1, HSPB3, HSPB8, IGHMBP2, TRPV4, UBA1, and VRK1. Genes in this panel have been associated with distal SMA, late onset SMA, SMA with respiratory distress, scapuloperoneal SMA, SMA with arthrogryphosis, and SMA with pontocerebellar hypoplasia. Typical Presentation: Progressive muscle weakness, poor weight gain, sleep difficulties, pneumonia, scoliosis, joint contractures. |
| Methodology: | Next Generation Sequencing |
| Reference Range: | Accompanies report |
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(1), 81406(1), 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 |
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