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Test Catalog
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Complete Ataxia Evaluation (Old) |
#690 |
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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), SCA6, SCA7, SCA8, SCA10, SCA13, SCA14 SCA17, AVED, MSS, Aprataxin, DRPLA & Friedreich's ataxias, Spinocerebellar ataxia type 5 (SCA5) |
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| Test Details |
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| Test Code: |
690 |
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| Profile includes: |
Aprataxin DNA Sequencing Test , DRPLA DNA Test, Friedreich Ataxia DNA Test, MIRAS-Specific POLG1 DNA Test, SCA1 DNA Test, SCA10 DNA Test, SCA13 Select Exon DNA Test, SCA14 DNA Test, SCA17 DNA Test, SCA3 (Machado-Joseph Disease) DNA Test, SCA6 DNA Test, SCA8 DNA Test, SETX DNA Sequencing Test, SIL1 (Marinesco-Sjogren Syndrome) DNA Sequencing Test, TTPA (Ataxia with Vitamin E Deficiency) DNA Sequencing 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, APTX, SIL1, TTPA, SETX, and POLG1* genes
*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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| Patents: |
5,741,645, 5,834,183, 5,840,491, 5,853,995, 6,150,091, 6,303,307, 6,280,938, 6,514,755, 6,524,791, 6,844,431, 6,673,535, 6,855,497, 7,118,893, 7,119,186, 7,329,487, 7,527,931, and 7,585,629 |
| 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), 83894(10), 83898(92), 83904(83), 83909(1), 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: |
20 mL |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Refrigerate, Room temperature. Ship within 24 hours, Monday-Thursday only. |
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| Test Turnaround: |
28 days |
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