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 »

Multiple Endocrine Neoplasia 2A, MEN2A (RET Complete Sequence Analysis, Exons 1-20)

  • LIS Mnemonic: MBRETSEQ

    Collect

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

    Volume Required

    5 ml whole blood or 6 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 weeks

CPT

81406

Disease Information

Clinical Features:

Multiple Endocrine Neoplasia type 2 (MEN 2) is an autosomal dominantly inherited cancer disorder classified in to three subtypes: MEN 2A, MEN 2B and familial medullary thyroid carcinoma (FMTC). All three subtypes carry a high risk for development of medullary carcinoma of the thyroid (MTC). The onset of MTC is in early childhood in MEN 2B and early adulthood in MEN 2A. MEN2A is characterized by medullary thyroid carcinoma, pheochromocytoma, and parathyroid hyperplasia. MEN2B is characterized by bilateral medullary thyroid carcinoma, pheochromocytoma, diffuse ganglioneuromas of the intestinal tract, mucosal neuromas, and skeletal abnormalities. Symptoms of MEN2B are evident within the first decade of life and progresses rapidly.

Molecular Genetics:

Approximately 95% of families with MEN 2A have a mutation in exon 10 or 11 of the RET proto-oncogene. Approximately 85% of patients with FMTC have an identifiable mutation in exons 10, 11, 13, 14 or 15 of the RET proto-oncogene.

Test Methods:

We offer DNA sequence analysis of exons 1-20 of the RET proto-oncogene. 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.

Detection Rate:

In 95% of MEN2A cases and 85% of familial medullary thyroid carcinoma patients, the mutation involves one of five cysteine residues in the extracellular domain of the RET proto oncogene. The analytical sensitivity for sequencing is close to 100%.

Related Tests:

Known mutation analysis is available to family members for mutations previously identified by sequence analysis.

Results:

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

Utility:

The clinical utility of these assays is in confirming a clinical diagnosis of MEN 2A, facilitate pre-symptomatic testing of at risk relatives, confirm the need for clinical surveillance or surgery in patients positive for a mutation, and to facilitate prenatal diagnosis.

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