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Test Catalog
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SGCE Deletion Analysis (DYT11) |
#627 |
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| Type of Disorder: |
Movement Disorders |
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| Typical Presentation: |
Childhood onset of myoclonic jerks in neck, trunk or upper limbs. 50% present with cervical dystonia or writer's cramp |
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| Indications for Testing: |
Childhood onset of myclonus |
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| Disease(s) tested for: |
Myoclonus-dystonia |
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| Test Details |
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| Test Code: |
627 |
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
Penetrance affected by maternal imprinting. |
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| Technical Information |
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| Utility: |
Detects sequence variations, duplications and deletions in the SGCE gene |
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| Methodology: |
Multiplex-Ligation Probe Amplification (MLPA) |
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| Reference Value: |
No deletions 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), 83900(1), 83901(19), 83909(1), 83912(1), 83914(21)
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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: |
10 ml |
| Collection Tube: |
Lavender top (EDTA) |
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| Shipping Conditions: |
Room temperature, avoid freezing |
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| Test Turnaround: |
21-28 days |
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