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Test Catalog
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Chorea Differential Evaluation |
#402 |
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| Type of Disorder: |
Movement Disorders |
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| Typical Presentation: |
Chorea, ataxia or progressive myoclonus epilepsy and idiopathic behavior change (may not be present in children) |
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| Disease(s) tested for: |
Huntington's disease, Dentatorubralpallidoluysian Atrophy |
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| Test Details |
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| Test Code: |
402 |
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| Profile includes: |
Huntington's Disease DNA Test, DRPLA DNA Test
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
Athena provides an Action Pack for presymptomatic testing which includes literature and an agreement that must be signed by the clinician and returned prior to testing. |
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| Technical Information |
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| Utility: |
Detects CAG triplet repeat expansion in the ITI5 gene and CAG triplet repeat expansions in the DRPLA gene |
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| Methodology: |
Polymerase Chain Reaction (PCR), Fragment analysis and Southern blot |
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| Reference Value: |
DRPLA normal <u><</u> 35 CAG trinucleotide repeats <br> Huntington's normal <u>></u> 5 and <u><</u> 26 CAG trinucleotide repeats |
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| CPT Code(s): |
83891(1), 83898(2), 83909(1), 83912(1) |
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| Patents: |
N/A |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
20ml |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Refrigerate, avoid freezing |
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| Shipping Conditions: |
Room temperature, avoid freezing. Ship within 24 hours, Monday - Thursday only. |
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| Test Turnaround: |
14-21 days |
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