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Test Catalog
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Complete Dopa-Responsive Dystonia (DYT5) Evaluation |
#629 |
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| Type of Disorder: |
Movement Disorders |
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| Typical Presentation: |
Childhood onset of lower limb dystonia, typically in the foot with possible hyperflexia and striatal toe. Dramatic response to low doses of levodopa. |
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| Indications for Testing: |
Childhood onset of dystonia with positive response to low dose levodopa |
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| Disease(s) tested for: |
Dystonia |
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| Test Details |
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| Test Code: |
629 |
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| Profile includes: |
GCH1 Deletion Analysis (DYT5), GCH1 DNA Sequencing Test, TH DNA Sequencing Test (DYT5)
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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: |
Detects mutations in the GCH1 and TH genes |
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| Methodology: |
DNA Sequencing and MLPA |
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| Reference Value: |
No sequence variations or deletions detected |
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| CPT Code(s): |
83891(1), 83896(6), 83898(20), 83900(1), 83901(4), 83904(20), 83914(6), 83909(1), 83912(1) |
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| Shipping Considerations |
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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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