Episodic Ataxia Panel

Casandra

Casandra Test Code PG49204Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 13383CPT Code 81479

Episodic Ataxia Panel

Clinical Use

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.

Test Details

New York Approved

Methodology

NGS (CGP)

Biomarkers

The episodic ataxia panel includes sequencing of 36 genes known to be associated with episodic ataxia. The test utilizes the NGS platform with CNV detection to assess gene variants across the specified genes.

Episodic Ataxia Gene Sequencing • CGP