Epidermolysis Bullosa and Related Disorders Panel

Casandra

Casandra Test Code PG62709Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 3003CPT Code 81479

Epidermolysis Bullosa and Related Disorders Panel

Clinical Use

Use

This test is designed for individuals with relevant clinical symptoms or suspected diagnosis of epidermolysis bullosa or related skin fragility disorders. It is also suitable for individuals with a family history of autosomal recessive epidermolysis bullosa and related disorders, as well as for reproductive partners of individuals with known pathogenic variants in the tested genes.

Special Instructions

For patients considering this test, it is vital to provide a detailed clinical history and any relevant family history to aid interpretation. Patients may also opt for Exome-Wide CNV Analysis as an additional add-on.

Limitations

While this panel offers comprehensive coverage of genes associated with epidermolysis bullosa and related disorders, there may be pathogenic variants not detected due to technological limitations or coverage gaps in the regions beyond the analyzed exons. Variants in genes not included in the panel or in non-coding regions may also be missed.

Test Details

New York Approved

Methodology

NGS (CGP)

Biomarkers

The test applies NGS technology to sequence 41 genes related to epidermolysis bullosa and associated disorders, integrating CNV analysis to detect deletions and duplications.

NGS Sequencing with CNV Analysis • CGP