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Test Catalog
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SMN DNA Sequencing Test |
#211 |
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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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| Indications for Testing: |
Symptomatic individuals consistent with spinal muscular atrophy |
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| Disease(s) tested for: |
Spinal muscular atrophy (SMA) |
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| Test Details |
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| Test Code: |
211 |
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| Profiles that contain this test: |
Complete SMA Evaluation (Reflexive), SMA Carrier Plus (Reflexive), SMA Plus (Reflexive)
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
Test code 211 should be utilized for SMN1 DNA sequencing for symptomatic patients. Since 95% of individuals affected with SMA will have a homozygous deletion of SMN1, it is strongly recommended that the patient be tested first for deletions. Please see test code 111D for further test details or the SMA Plus reflex testing option (#214) |
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| Technical Information |
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| Utility: |
Confirm diagnosis of SMA |
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| Methodology: |
DNA Sequencing, PCR |
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| Reference Value: |
No point mutations identified in SMN1 or SMN2 |
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| Patents: |
6,080,577, 7,033,752 |
| CPT Coding |
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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.
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| Stacked CPT Code(s): |
83891(1), 83898(8), 83904(8), 83909(8), 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: |
2-4 mL |
| Collection Tube: |
Lavender top (EDTA) |
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| Alternate
Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
2-4 mL |
| Collection Tube: |
Yellow top (ACD-A or ACD-B) |
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| Storage Conditions: |
Room temperature: 5 days; Refrigerated: 14 days; Frozen: Unacceptable |
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| Shipping Conditions: |
Room temperature. Clotted specimens will be rejected. |
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| Test Turnaround: |
7-12 days |
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