Alport Syndrome Panel

Casandra

Casandra Test Code PG78811Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 10147

Alport Syndrome Panel

Clinical Use

Use

This panel is intended for individuals with a clinical or suspected diagnosis of Alport syndrome or those with a family history of presumed Alport syndrome without previous genetic testing. Alport syndrome primarily affects the kidneys and can lead to renal failure, hearing loss, and eye abnormalities. Early and accurate genetic diagnosis can help manage the condition and provide information for family planning.

Special Instructions

This test is performed using Next-Generation Sequencing (NGS) with CNV analysis, available on either an exome or genome platform. Additional options include prenatal testing and a STAT testing service with a surcharge. Family testing options are also available, including duo and trio analysis, to help interpret clinical significance. New York state approval is confirmed for this test.

Limitations

The test has not been cleared or approved by the FDA. Limitations include typical issues with NGS such as difficulty in detecting low-frequency variants, structural rearrangements, or variants in regions with low coverage. The clinical utility of identified variants is highly dependent on the clinical information provided.

Test Details

New York Approved

Methodology

NGS (WGS)

Biomarkers

This component involves next-generation sequencing with copy number variation analysis, using either exome or genome platforms to detect mutations associated with Alport syndrome.

NGS with CNV Analysis • WGS