Birt-Hogg-Dube Syndrome (FLCN) Sequencing and Deletion/Duplication

Also known as: FLCN NGS

Clinical Use

Use

Recommended test to confirm a clinical diagnosis or family history of Birt-Hogg-Dubé syndrome (BHDS). BHDS is a genetic disorder characterized by skin lesions, lung cysts with a risk of pneumothorax, and renal tumors. It is caused by pathogenic variants in the FLCN gene, following an autosomal dominant pattern of inheritance. Approximately 90-95% of individuals with a pathogenic FLCN variant will develop features of BHDS. The genetic test can aid in diagnosis for patients exhibiting symptoms or with a family history consistent with BHDS.

Special Instructions

Not provided.

Limitations

This test detects variants within the coding regions and intron-exon boundaries of the FLCN gene. It may not identify larger deletions or duplications, regulatory region variants, deep intronic variants, or low-level mosaic variants. The analytical sensitivity is around 99% for single nucleotide variants and over 93% for small insertions and deletions. However, deletions of single exons or duplications of two or fewer exons may have lower detection sensitivity.

Test Details