Ataxia Repeat Expansion Analysis by NGS

Diseases Targeted:

Overview:

The Ataxia Repeat Expansion Analysis panel tests for repeat expansions in genes associated with ataxic conditions. This diagnostic test utilizes two independent algorithms to first screen for repeat expansion signatures from whole genome data, then confirm any genes screening positive for repeat expansions by gene-specific single-gene repeat-primed PCR tests.

Who is this test for?

Patients with a known or suspected family history of ataxia and presentation of symptoms consistent with hereditary ataxia. Signs of ataxia include incoordination of gait, hands, feet, and eye movement. The scope of this assay is limited to repeat expansion analysis of the specified genes. Gene sequencing and deletion/duplication analysis are not included.

What are the potential benefits for my patient?

Identification of the specific genetic etiology can help confirm a clinical diagnosis and/or determine medical management for a patient. It can also provide information about clinical course of disease and illuminate potential risk for close relatives of the patient.