Wolfram Syndrome Panel

Casandra

Casandra Test Code PG19820Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 10057CPT Code 81479

Wolfram Syndrome Panel

Clinical Use

Use

This test is intended for individuals with clinical or suspected diagnosis of Wolfram syndrome, particularly those with symptom onset before age 15. It involves sequencing two genes known to be associated with Wolfram syndrome. This test can assist in confirming a diagnosis and guiding patient management.

Special Instructions

Test ordering can be done online or via fax using the test requisition form. Institutional pricing is available, and a STAT option allows faster processing for time-sensitive cases.

Limitations

The test is limited to the identification of pathogenic variants in the specified genes associated with Wolfram syndrome. It may not detect all mutations involved in this condition, especially in non-coding regions or genes not included in the panel. The test is not cleared by the FDA but follows CAP and CLIA regulations.

Test Details

New York Approved

Methodology

NGS (CGP)

Biomarkers

The test covers two genes associated with Wolfram syndrome using next-generation sequencing with CNV analysis. The approach accounts for detecting small variants and copy number changes.

NGS with CNV Analysis • CGP