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

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

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

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