|
Test Catalog
|
|
Complete Ataxia Evaluation (Old) |
#690 |
|
| Type of Disorder: |
Movement Disorders |
|
| Typical Presentation: |
Ataxia, poor coordination of hand, speech and eye movements, uncoordinated and unsteady gait |
|
| 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) |
|
| Test Details |
|
| Test Code: |
690 |
|
| 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, SCA2 DNA Test, SCA3 (Machado-Joseph Disease) DNA Test, SCA5 Select Exon DNA Test, SCA6 DNA Test, SCA7 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
|
|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
No |
|
| Special Notes: |
For clinical support on test ordering or result interpretation, please contact Athena's genetic counselors or lab directors. |
|
| Technical Information |
|
| 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. |
|
| Methodology: |
Polymerase Chain Reaction (PCR), Southern blot, Pulse Field Gel Electrophoresis, Fragment Analysis, Capillary Electrophoresis and DNA Sequencing |
|
| Reference Value: |
Please see individual test listings |
|
| CPT Code(s): |
83891(1), 83894(10), 83898(92), 83904(83), 83909(1), 83912(1) |
|
| 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 |
|
| Shipping Considerations |
|
| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
20 mL |
| Collection Tube: |
Lavender top (EDTA) |
|
| Storage Conditions: |
Refrigerate, Room temperature. Ship within 24 hours, Monday-Thursday only. |
|
| Test Turnaround: |
28 days |
|
