Collect whole blood in a purple top (EDTA) tube (preferred). Extracted DNA is also accepted.
5 ml whole blood or 1 ug DNA
3 ml whole blood
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 papillary renal carcinoma (HPRC) is a form of inherited kidney cancer characterized by a pre-disposition to develop multiple, bilateral type I papillary renal tumors. HPRC is histologically and genetically distinct from other causes of inherited renal carcinoma such as Birt-Hogg-Dube syndrome, hereditary leiomyomatosis and renal carcinoma, and Von-Hippel-Lindau Disease.
The MET gene is located on chromosome 7q31.1-.34. The inheritance pattern is consistent with autosomal dominant transmission with reduced penetrance. Missense mutations found in HPRC families occur in exons 16, 17, 18 and 19 of the MET proto-oncogene (which encodes the tyrosine kinase domain of the protein).
Sequence analysis of the mutation previously identified in a family member will be performed.
The analytical sensitivity of this assay is close to a 100%.
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.
The clinical utility of the assay includes confirmation of a clinical diagnosis, establishing the need for continued clinical surveillance of the patient, and facilitating pre-symptomatic testing of at risk relatives.
Whole blood in EDTA purple top tubes is the preferred sample. High molecular weight genomic DNA is also accepted. Cheek epithelial cells or other samples containing DNA may be acceptable. Contact the laboratory for specific instructions regarding such samples before sending the sample.
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