Diagnostic Test Directory

Molecular Genetics Laboratory

CHOP in the News

Clinical Lab Products quotes Avni Santani, PhD, Scientific Director, Molecular Genetics Laboratory, in a story about next-gen sequencing. Read the story »

Laboratory Update

Testing for the Noonan spectrum of disorders is now available at the Molecular Genetics Laboratory. Learn more about Noonan spectrum testing »

Hereditary Papillary Renal Carcinoma (MET proto-oncogene Known Mutation)

  • LIS Mnemonic: MBHPRCPT

    Collect

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

    Volume Required

    5 ml whole blood or 1 ug 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

2-3 weeks

CPT

81479

Disease Information

Clinical Features:

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.

Molecular Genetics:

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).

Test Methods:

Sequence analysis of the mutation previously identified in a family member will be performed.

Detection Rate:

The analytical sensitivity of this assay is close to a 100%.

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:

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.

Search Lab Test Directory

Search by disease or test name

View a full list of all lab tests

Contact Us

Ask for more information about our laboratory services.

215-590-5221