Inherited Ataxia Gene Panel, Varies
Use
The Inherited Ataxia Gene Panel is used to establish a molecular diagnosis for patients with ataxia by identifying variants within genes known to be associated with this condition. This panel aids predictive testing of at-risk family members and assists in diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for ataxia.
Special Instructions
Targeted testing for familial variants is available for the genes on this panel. Customization of this panel and single gene analysis for any gene present on this panel are available. For instructions regarding testing in the context of prior bone marrow transplants or customization options, contact the laboratory.
Limitations
Next-generation sequencing used in this test may not detect all genomic variants, and confirmation by other methodologies may be needed for select variants. Limitations include inability to effectively evaluate some gene regions due to high GC content or repetitive sequences. The test covers single and multi-exon deletions/duplications but may not achieve single exon resolution. It cannot detect low levels of mosaicism or differentiate between somatic and germline variants. Sensitivity estimates are above 99% for single nucleotide variants and slightly lower for larger indels. Negative results do not rule out the genetic disorder, and variants at genes added or removed based on updated clinical relevance are interpreted accordingly.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 51966-0
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 48018-6
- 18771-6
Result Turnaround Time
21-35 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send in original tube without aliquoting.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |