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Test Catalog
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X-Linked Spinal Muscular Atrophy (XLSMA) - UBE1 DNA Sequencing Test |
#213 |
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| Type of Disorder: |
Motor Neuron Disease |
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| Typical Presentation: |
X-linked spinal muscular atrophy is a rare disorder that closely resembles classic SMA. XLSMA presents with clinical characteristics of hypotonia, areflexia and multiple congenital contractures associated with loss of anterior horn cells and death in infancy. SMA has been associated with mutations in the X chromosome since 1995 (Kobayashi, Baumbach 1995). XLSMA is inherited in an X-linked manner, with UBE1 the only gene associated with the disorder. Carrier females have a 50% chance of transmitting the disease causing mutation with each pregnancy. Males who inherit the mutation will be affected, females who inherit the mutation will be carriers but not usually affected. |
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| Disease(s) tested for: |
Spinal muscular atrophy (SMA), X-Linked Spinal Muscular Atrophy |
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| Test Details |
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| Test Code: |
213 |
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| Profiles that contain this test: |
Complete SMA Evaluation (Reflexive)
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
Mutations in UBE1 that are associated with SMA are confined to exon 15. Targeted analysis of exon 15 is sufficient to identify all known UBE1 mutations associated with XL-SMA. Full gene sequencing may be warranted at a later date if mutations that segregate with XL-SMA are found elsewhere in the gene. |
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| Technical Information |
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| Utility: |
Confirm diagnosis of X-linked SMA in males and carrier status in females |
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| Methodology: |
DNA Sequencing, PCR (exon 15 only) |
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| Reference Value: |
No point mutations identified in UBE1 exon 15 |
| 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(1), 83904(1), 83909(1), 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: |
21-28 days |
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