| Test code: | 111, 5026(NY) |
| Type of disorder: | Motor Neuron Disorders |
| Disease(s) tested for: | Lower Motor Neuron Disease, Spinal muscular atrophy (SMA) |
| Genes Included: |
SMN1 Del, SMN2 Del, |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects copy number (dosage) of the SMN1 and SMN2 genes in patient affected with spinal muscular atrophy (SMA). |
| Methodology: |
qPCR
|
| Reference Range: | Normal: Presence of two or more SMN1 gene copies (dosage) |
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.
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: |
4 mL (2 mL minimum) whole blood collected in (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: | 4 days |
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