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Test Catalog
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Autosomal Dominant Ataxia Evaluation |
#680 |
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| Type of Disorder: |
Movement Disorders |
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| Typical Presentation: |
Ataxia, poor coordination of hand, speech and eye movements, uncoordinated and unsteady gait |
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| Disease(s) tested for: |
SCA1, SCA2, SCA3 (MJD), SCA5, SCA6, SCA7, SCA8, SCA10, SCA13, SCA14, SCA17 & DRPLA |
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| Test Details |
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| Test Code: |
680 |
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| Profile includes: |
DRPLA DNA Test, SCA1 DNA Test, SCA10 DNA Test, SCA13 Select Exon DNA Test, SCA14 DNA Test, SCA17 DNA Test, SCA2 DNA Test, SCA3 (Machado-Joseph Disease) DNA Test, SCA5 Select Exon DNA Test, SCA6 DNA Test, SCA7 DNA Test, SCA8 DNA Test
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
No |
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| Special Notes: |
For clinical support on test ordering or result interpretation, please contact Athena's genetic counselors or lab directors.
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| Technical Information |
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| Utility: |
Detects the triplet repeat expansion in nine known genes causing cerebellar ataxia, pentanucleotide repeat expansion in the SCA10 gene and mutations in the SCA5*, SCA13*, SCA14
*only select exons sequenced. |
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| Methodology: |
Polymerase Chain Reaction (PCR), Southern blot, Pulse Field Gel Electrophoresis, Fragment Analysis, Capillary Electrophoresis and DNA Sequencing |
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| Reference Value: |
Please see individual test listings |
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| CPT Code(s): |
83891 (1), 83894 (9), 83898 (31), 83904 (23), 83909 (1), 83912 (1) |
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| Patents: |
5,741,645, 5,834,183, 5,840,491, 5,853,995, 6,303,307, 6,280,938, 6,514,755, 6,524,791, 6,673,535, 6,844,431, 6,855,497, 7,118,893, and 7,329,487 |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
20 mL |
| Collection Tube: |
Levender top (EDTA) |
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| Storage Conditions: |
Refrigerate, Room temperature. Ship within 24 hours, Monday-Thursday only. |
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| Test Turnaround: |
14-21 days |
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