Diagnostic Test Directory

Molecular Genetics Laboratory

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Hereditary Papillary Renal Carcinoma (MET proto-oncogene Sequencing)

  • LIS Mnemonic: MBHPRCSCRN

    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 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:

PCR amplification and sequencing is performed on exons 16- 19 of the MET proto-oncogene including splice junctions. The patient’s gene sequence is then compared to a reference sequence. 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. Large deletions, mutations in exons other than 16 -19, promoters, deep intronic regions and other regulatory regions will not be identified with this assay.

Detection Rate:

Mutations will be identified in about 89% of patients with hereditary papillary renal carcinoma. The analytical sensitivity of this assay is close to a 100%.

Related Tests:

Known point mutation analysis is available to family members for mutations previously identified by sequence analysis. We offer the following tests related to Renal Cell Carcinoma: Hereditary leiomyomatosis and renal carcinoma- FH Gene Sequencing and Deletion Analysis 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:

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.

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215-590-5221