Ataxia Xpanded Panel
Use
This test is part of GeneDx’s suite of Xpanded® panels, specifically designed for diagnosing ataxia by combining comprehensive exome or genome sequencing with phenotypically driven analysis focused on ataxia-related genes. It is intended to increase diagnostic yield in individuals with suspected genetic forms of ataxia, enabling precision diagnosis and management.
Special Instructions
GeneDx requires a completed test order signed by a qualified ordering healthcare provider and patient/guardian (and relative consents for trio/duo), relevant clinic notes within two weeks of sample receipt, including why the test is appropriate and how results may impact management. Family member specimens may also be required, depending on the test.
Limitations
Turnaround time may vary depending on test volume and complexity; the estimate typically starts after billing and clinical review are complete. Results could be delayed by factors outside GeneDx’s control. The test is a laboratory-developed test (LDT) under CLIA/CAP and may not be available in certain jurisdictions.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Buccal Swab
Volume
Not provided
Minimum Volume
Not provided