Multiple Endocrine Neoplasia Type 2A (MEN2A), Type 2B (MEN2B), and Familial Medullary Thyroid Carcinoma (FMTC) via the RET Gene
Use
This test is intended for individuals with a clinical or suspected diagnosis of Multiple Endocrine Neoplasia Type 2 (MEN2), early-onset medullary thyroid carcinoma diagnosed before age 35, or individuals with a suspected diagnosis of Hirschsprung Disease (HSCR). It aims to identify pathogenic variants in the RET gene, which are associated with these conditions, facilitating early diagnosis and treatment planning.
Special Instructions
Ensure that the test is ordered by a qualified healthcare provider. Use the specific test requisition form available for fax orders if not done online. The test is New York approved, and the STAT option is available with a 25% surcharge, which does not apply if the report is delayed beyond 16 days and the blood sample was submitted.
Limitations
This test does not cover all genetic causes of MEN2 or FMTC and does not detect all possible variants in the RET gene. It focuses on known pathogenic variants but might miss rare or novel mutations. Variants outside the targeted regions and types of mutational events not covered by the methodology will not be detected.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided