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Test Catalog
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Complete SMA Evaluation (Reflexive) |
#215 |
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| Type of Disorder: |
Motor Neuron Disease |
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| Typical Presentation: |
Spinal muscular atrophy is characterized by progressive muscle weakness caused by the degeneration of lower motor neurons that are responsible for controlling voluntary muscle movement including walking, crawling, swallowing, and head and neck control. Age of onset ranges from before birth to adolescence or young adulthood. The most common type of SMA is associated with respiratory failure and death before the age of two. |
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| Disease(s) tested for: |
Spinal muscular atrophy (SMA), Spinal muscular atrophy with Respiratory Distress, X-Linked Spinal Muscular Atrophy |
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| Test Details |
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| Test Code: |
215 |
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| Profile includes: |
SMN DNA Sequencing Test, Spinal Muscular Atrophy Diagnostic Test, Spinal Muscular Atrophy with Respiratory Distress (SMARD) - IGHMBP2 DNA Sequencing Test, X-Linked Spinal Muscular Atrophy (XLSMA) - UBE1 DNA Sequencing Test
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
Profile is performed reflexively in the following order.
1. SMN1 Deletion
2. SMN1 Sequencing
3. SMARD & XLSMA |
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| Technical Information |
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| Utility: |
Confirm diagnosis of SMA caused by the mutations in the SMN1 gene. |
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| Methodology: |
DNA Sequencing and Dosage Analysis |
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| Reference Value: |
Normal: two deletions and no point mutations identified in SMN1, IGHMB2 or UBE1(exon 15) |
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| CPT Code(s): |
83891(1), 83898(19), 83900(1), 83901(21), 83904(19), 83914(23), 83909(20), 83912(1) |
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| Shipping Considerations |
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| Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form. |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
5-10 ml |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Refrigerate, avoid freezing |
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| Shipping Conditions: |
Room temperature, avoid freezing. Ship within 24 hours, Monday -Friday |
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| Test Turnaround: |
21-28 days |
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