Epidermolysis Bullosa and Related Disorders Panel
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.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided