Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel
Use
The Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel is used for diagnostic testing of spinocerebellar ataxias. This genetic analysis is crucial for identifying pathogenic nucleotide repeat expansions in genes associated with spinocerebellar ataxias. It helps in diagnosing patients presenting with progressive incoordination of gait and is often accompanied by poor coordination of hands, speech, and eye movements due to the degeneration of the cerebellum or its connections, without significant cognitive decline.
Special Instructions
Not provided.
Limitations
False positives or negatives may occur due to insufficient information about rare variants, allele dropout, blood transfusions, bone marrow transplantations, somatic or tissue-specific mosaicism, or sample labeling errors. The test has a maximum reportable range for repeat expansions: ATN1 up to 110 repeats; ATXN1, ATXN2, ATXN3, ATXN7, and ATXN8/ATXN8OS up to 150 repeats; ATXN10 up to 70 repeats; CACNA1A up to 145 repeats; CNBP approximately 75 repeats; DMPK up to 150 repeats; FXN up to 1300 repeats; HTT and JPH3 up to 100 repeats; NOP56 and PPP2R2B up to 65 repeats; and TBP up to 120 repeats. Repeat sizes larger than the stated ranges will be reported as above the maximum reportable repeat size.
Methodology
PCR-based (Repeat-primed PCR)
Biomarkers
No genes
Gene
Result Turnaround Time
24-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
2 mL
Container
lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy techniques.
Storage Instructions
Maintain at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |
| Frozen | Do not freeze |
Other tests from different labs that may be relevant