Athena Diagnostics - Testing that Makes a Difference
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Complete Dopa-Responsive Dystonia (DYT5) Evaluation #629
Type of Disorder: Movement Disorders
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.
Indications for Testing: Childhood onset of dystonia with positive response to low dose levodopa
Disease(s) tested for: Dystonia
Test Details
Test Code: 629
Profile includes: GCH1 Deletion Analysis (DYT5), GCH1 DNA Sequencing Test, TH DNA Sequencing Test (DYT5)
Informed Consent Required: Yes
Medicare ABN Required: Yes
Technical Information
Utility: Detects mutations in the GCH1 and TH genes
Methodology: DNA Sequencing and MLPA
Reference Value: No sequence variations or deletions detected
CPT Code(s): 83891(1), 83896(6), 83898(20), 83900(1), 83901(4), 83904(20), 83914(6), 83909(1), 83912(1)
Shipping Considerations
Preferred Specimen Requirements
Type: Whole blood
Minimum Volume: 10 ml
Collection Tube: Lavender top (EDTA)
Shipping Conditions: Room temperature, avoid freezing
Test Turnaround: 21-28 days
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