Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation

Test Code
6521

Test Details


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

Technical Information


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

CPT Coding


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)

Specimen Requirements


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

Shipping Considerations


Transport Temperature: Room temperature
Set-up/Analytic Time: 21-28 days

Additional Resources

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