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Test Catalog
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SIL1 (Marinesco-Sjogren Syndrome) DNA Sequencing Test |
#282 |
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| Type of Disorder: |
Movement Disorders |
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| Typical Presentation: |
Ataxia, poor coordination of hand, speech and eye movements, uncoordinated and unsteady gait |
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| Disease(s) tested for: |
Marinesco-Sjorgren Syndrome |
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| Test Details |
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| Test Code: |
282 |
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| Profiles that contain this test: |
Autosomal Recessive Ataxia Evaluation, Complete Ataxia Evaluation
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
No |
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| Special Notes: |
For clinical support on test ordering or result interpretation, please contact Athena's genetic counselors or lab directors |
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| Technical Information |
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| Utility: |
Analysis of the SIL1 gene sequence includes 9 of the 11 exons that are found in variant 1 mRNA (eliminating the first two exons that are not part of the protein coding region) |
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| Methodology: |
Polymerase Chain Reaction (PCR) and DNA Sequencing |
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| Reference Value: |
No sequence variations detected |
| 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(10), 83904(10), 83909(10), 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 |
| Minimum Volume: |
10 ml |
| Collection Tube: |
Levender top (EDTA) |
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| Storage Conditions: |
Refrigerate, avoid freexing |
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| Shipping Conditions: |
Room temperature. Ship within 24 hours, Monday-Thursday only. |
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| Test Turnaround: |
14-21 days |
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