Gene DX, FH Gene Sequencing & Del/Dup. HLRCC-FH Tier 1 Seq

Collect at NMCP only Mon-Thursday by 1200

713

Hereditary Leiomyomatosis and Renal Cell Cancer

A single tube with 1-5 mL whole blood in EDTA.

2-5 mL Blood - Lavender Top Tube

Ship overnight at ambient temperature, using a cool pack in hot weather. Specimens may be refrigerated for 7 days prior to shipping.

Ambient

5-6 weeks

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a tumor predisposition syndrome that increases the risk for a triad of features: cutaneous leiomyomas (smooth muscle tumors of the skin), uterine leiomyomas (more commonly referred to as uterine fibroids), and renal cell cancer. An estimated 76% of patients present with single or multiple cutaneous leiomyomas distributed over the trunk and extremities, and more rarely on the face and neck. The skin findings manifest at a mean age of 25 years. Uterine leiomyomas are present in almost all women with HLRCC and occur at a younger age than in the general population. Uterine fibroids are generally large and numerous. Renal tumors occur in ~10-16% of patients with HLRCC, with a median age at detection of 44 years. Most tumors are classified as 'type 2' papillary renal cancer, although tubulo-papillary, tubular, and solid tumor types have been described. The renal tumors are typically unilateral, solitary, and more aggressive than those associated with other hereditary cancer syndromes. Reasons for referral: Confirmation of a clinical diagnosis. To differentiate HLRCC from other hereditary cancer predisposition syndromes such as VHL and BHD. To determine an appropriate medical surveillance and treatment plan for at risk family members. Carrier testing for parents of a child with FHD. Risk assessment. Prenatal diagnosis in FHD families with known mutations.