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Test Catalog
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Primary Dystonia Evaluation |
#639 |
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| Type of Disorder: |
Movement Disorders |
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| Typical Presentation: |
Dystonia frequently involving the craniocervical region although most patients have limb involvement that eventually progresses onto generalized dystonia. Age of onset is usually in childhood but adults onset has been reported. |
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| Indications for Testing: |
Clincial features consistent with Primary Early-Onset Dystonia |
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| Disease(s) tested for: |
Primary Early-Onset Dystonia |
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| Test Details |
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| Test Code: |
639 |
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| Profile includes: |
Dystonia (DYT1) DNA Test, THAP1 (DYT6) DNA Sequencing Test
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Technical Information |
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| Utility: |
Detection for mutations to THAP1 and deletions to TOR1A |
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| Methodology: |
Polymerase Chain Reaction (PCR), Fragment Analysis, DNA Sequencing |
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| Reference Value: |
No mutations or deletions detected |
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| Patents: |
6,387,616, 6,921,814 |
| 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(5), 83904(4), 83909(5), 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: |
6 mL |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Do not freeze, refrigerate |
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| Shipping Conditions: |
Room tempature avoid freezing |
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| Test Turnaround: |
28 days |
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