Diagnostic Test Directory

Molecular Genetics Laboratory

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Hereditary Leiomyomatosis and Renal Cell Carcinoma, HLRCC (FH Gene Deletion Analysis)

  • LIS Mnemonic: MBFHRQPCR

    Collect

    Collect whole blood in a purple top (EDTA) tube (preferred). Extracted DNA is also acceptable.

    Volume Required

    5 ml whole blood or 1 ug extracted DNA

    Minimum Required

    3 ml whole blood

    Transport

    Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday within 24 hours of collection.

    Stability

    Whole blood can be refrigerated until shipment.

    Unacceptable conditions

    Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.

    Specimen Handling

    Do not heat, freeze or centrifuge blood before shipment. Refrigerate sample until shipment.

Days Performed

Mon - Fri 9:00am to 4:00pm

Reported

4-6 weeks

CPT

81479

Disease Information

Clinical Features:

Hereditary leiomyomatosis and renal carcinoma is a form of inherited kidney cancer due to mutations in the fumarate hydratase gene. Affected individuals develop benign smooth muscle tumors of the skin; affected females frequently develop leiomyomata of the uterus (fibroids). Tumors typically present at 20-35 years of age, although the phenotype can be subtle and penetrance may be incomplete. Predisposition to type II papillary renal cell carcinoma has been observed in some families.

Molecular Genetics:

The FH gene is located on chromsome1q42.1. The inheritance pattern is autosomal dominant. The mutations are predicted to result in absent or truncated proteins or in non-conservative substitutions in highly conserved amino acid residues. Missense, nonsense, splice site, small insertions and deletions and large deletions of the entire coding region have been identified in affected individuals.

Test Methods:

Large deletions and duplications in the FH gene will be detected using multiplex ligation-dependent probe amplification assay (MLPA).

Detection Rate:

Deletion Analysis: Approximately 5% of patients have large deletions of the FH gene. The analytical sensitivity is greater than 99% for whole gene deletions using MLPA.

Related Tests:

We offer scanning for point mutations in the FH gene by dHPLC (WAVE) and Surveyor endonuclease (Transgenomic, Inc.) followed by DNA sequence analysis of exons exhibiting cleavage. Known mutation analysis is available to family members for previously identified mutations. We offer the following tests related to Renal Cell Carcinoma: Hereditary papillary renal carcinoma – MET proto-oncogene (Sequencing of exons 16-19. Birt-Hogg-Dube – FLCN Gene Mutation Screen. Von-Hippel-Lindau Disease – VHL Gene Sequencing and Deletion Analysis

Results:

Test results with interpretation will be mailed and/or faxed to the referring physician or send out lab following completion of the test. Additional reports will be provided as requested.

Utility:

To identify patients with benign skin nodules and/or uterine fibroids who might be at increased risk for papillary type II renal cell carcinoma in order to facilitate clinical screening of the patient and molecular analysis of other at risk relatives.

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215-590-5221