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

Casandra

Casandra Test Code AR14766Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3005703CPT Code 81479

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

Also known as: FLCN NGS

Clinical Use

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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

Informed consent for genetic testing is recommended. New York state clients must submit samples to a New York state-approved laboratory. A patient history form specific to BHDS is required. Refrigerated whole blood collection is necessary, and certain specimen types like serum and frozen samples are unacceptable.

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