Collect whole blood in a purple top (EDTA) tube.
Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday within 24 hours of collection.
Whole blood can be refrigerated until shipment.
Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.
Do not heat, freeze or centrifuge blood before shipment. Refrigerate sample until shipment.
Mon - Fri 9:00am to 4:00pm
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.
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.
We offer scanning for point mutations by dHPLC (WAVE) and Surveyor endonuclease (Transgenomic, Inc.) followed by DNA sequence analysis of exons exhibiting cleavage. Sequence variants are classified as mutations, variants of unknown significance or benign variants unrelated to disease. Variants of unknown significance may warrant further studies in the patient and other family members.
Sequence Analysis: Point mutations in the FH gene have been identified in 93% of patients with the disease. The analytical sensitivity is close to 100% for known point mutations using WAVE/Surveyor analysis and DNA sequencing.
Deletion Analysis of the FH gene. Approximately 5% of patients have large deletions of the FH gene.
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.
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.
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.
Whole blood in EDTA purple top tubes is the preferred sample. High molecular weight genomic DNA, cheek epithelial cells, or other samples containing DNA may be acceptable. Contact the laboratory for specific instructions regarding such samples before sending the sample.