Episodic Ataxia Panel
Use
This test is designed for individuals who have clinical or suspected diagnoses of episodic ataxia, as well as those with a family history of autosomal dominant episodic ataxia where the causative variant is unknown. It can aid in confirming the diagnosis and informing treatment and management decisions.
Special Instructions
For the exome platform, specimens can include blood, DNA, buccal, saliva, or tissue. For the genome platform, specimens are limited to blood and DNA. It is important to specify the platform choice (exome vs genome) when ordering.
Limitations
The test may not detect all genetic variants associated with episodic ataxia due to limitations in coverage and detection sensitivity. Some variants might remain unidentified if they are located in regions not well covered by NGS or if they are structural alterations not effectively captured using this method.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided