CSTB Gene, Repeat Expansion Analysis, Varies

Casandra

Casandra Test Code MC60096Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID CSTBCPT Code 81188

CSTB Gene, Repeat Expansion Analysis, Varies

Clinical Use

Use

This test is useful for the molecular confirmation of clinically suspected CSTB-related progressive myoclonic epilepsy. It identifies full penetrance dodecamer repeat expansions within CSTB known to cause CSTB-related progressive myoclonic epilepsy, allowing for predictive testing of at-risk family members. The test impacts patient treatment and management by identifying a specific underlying etiology for epilepsy, directing appropriate use of anti-epileptic drugs and other treatment modalities.

Special Instructions

For predictive testing, it is important to first document the molecular etiology of disease in an affected family member. A test request should include an informed consent for genetic testing for New York clients. Additional maternal cell contamination studies are recommended for postnatal umbilical cord whole blood specimens.

Limitations

This assay will not detect nonrepeat expansion variants, and progressive myoclonic epilepsy may be caused by variants in other genes. Rare variants may lead to false-negative results. The test results should be interpreted in the context of clinical findings, family history, and other laboratory data.

Test Details

New York Approved