Hereditary Leiomyomatosis & Renal Cell Cancer Sequencing

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary condition associated with multiple leiomyomas, uterine fibroids, and type 2 papillary renal cancer. The fumarate hydratase (FH) gene is believed to cause most cases of HLRCC. Patients with HLRCC are born with one mutated copy of the FH gene in each cell. The second copy of the FH gene in certain cells may also acquire mutations as a result of environmental factors such as ultraviolet radiation from the sun or a mistake that occurs as DNA copies itself during cell division. These changes are somatic mutations and are not inherited.

We provide sequencing for the FH gene, chromosome locus 1q42.1.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

Test Requisition: Sequencing Requisition

CPT Code: 81405 Cost: $1193.00

Turn-around-time: 5-6 weeks