Test Catalog

Test ID: RETZ    
RET Proto-Oncogene, Full Gene Analysis, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Confirmation of suspected clinical diagnosis of multiple endocrine neoplasia type A or B, Hirschsprung disease, or congenital central hypoventilation syndrome


Identification of familial pathogenic or likely pathogenic RET mutation to allow for predictive or diagnostic testing in family members

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test includes next-generation sequencing of exons 1-20 to evaluate for mutations in the RET gene. Sanger sequencing may be performed to confirm detected variants. Testing can be ordered for multiple endocrine neoplasia types 2A (MEN2A) and 2B (MEN2B), and familial medullary thyroid carcinoma (FMTC). If an interpretation is desired specific to Hirschsprung disease (HSCR) or congenital central hypoventilation syndrome (CCHS), call 800-533-1710 and ask for the Genomics Genetic Counselor oncall.


Full sequencing of the RET gene including all exons 1-20


Mutations in the RET gene are the most common cause of multiple endocrine neoplasia type 2 and Hirschsprung disease

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing when appropriate

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

RET Gene, Full Gene Analysis

Aliases Lists additional common names for a test, as an aid in searching

Multiple Endocrine Neoplasia Type 2
Multiple Endocrine Neoplasia Type 2A
Multiple Endocrine Neoplasia Type 2B
Hirschsrpung Disease
Hirschsprung's Disease
Congenital central hypoventilation syndrome
Familial Medullary Thyroid Cancer
Medullary thyroid cancer
RET proto-oncogene
Next Gen Sequencing Test