RET Full Gene Analysis
Label Mnemonic: MEN2MUT
Epic Lab Code: LAB3573
Downtime Form: A-1a Miscellaneous Request
Commercial Mail-out Laboratory
5231 RCP
356-8593
Specimen(s):
Whole Blood
Specimen Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
Specimen must arrive reference laboratory within 96 hours of collection.
Collection Medium:
Lavender top tube 3 mL (EDTA)
Alternate Collection Media:
Yellow top tube 8.5 mL (ACD solution A)
Minimum:
Preferred Minimum: 3.0 mL lavender top tube (EDTA)
Absolute Minimum: 1.0 mL whole blood

Contact Clinical Pathology/Core Laboratory for other specimen options (356-3527): Amniotic Fluid or Chorionic Villus
Testing Schedule:
Monday - Thursday only, NO weekends or holidays.
Turn Around Time:
14 days upon receipt at reference laboratory
Reference Range:
An interpretive report will be provided.
Interpretive Data:
All detected alterations will be evaluated according to American College of Medical Genetics and Genomics (ACMG) recommendations.(1) Variants will be classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Comments:
Useful For:
Confirmation of suspected clinical diagnosis of multiple endocrine neoplasia type A or B, Hirschsprung disease, or congenital central hypoventilation syndrome in patients with a suspected diagnosis of any of these conditions.

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

Cautions:
Some individuals who have a diagnosis of multiple endocrine neoplasia type A or B, Hirschsprung disease, or congenital central hypoventilation syndrome and/or involvement of RET may have a mutation that is not identified by this method (eg, large genomic deletions or duplications, promoter mutations, deep intronic mutations). The absence of a mutation, therefore, does not eliminate the possibility of a diagnosis of multiple endocrine neoplasia type A or B, Hirschsprung disease, or congenital central hypoventilation syndrome. For predictive testing of asymptomatic individuals, it is important to first document the presence of an RET gene mutation in an affected family member.

In some cases, DNA alterations of undetermined significance may be identified.

Rare polymorphisms exist that could lead to false-negative or false- positive results. If results obtained do not match the clinical findings, additional testing should be considered.

A previous bone marrow transplant from an allogenic donor will interfere with testing.

Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.
Please print, complete and submit the following forms to the lab, with the specimen and the A-1a Miscellaneous Request: Molecular Genetics: Inherited Cancer Syndromes Patient Information Sheet and the Informed Consent Form for Genetic Testing from the Mayo Medical Laboratories.

This mailout test requires pathologist approval for orders during inpatient encounters. Mailouts staff will not process order without approval. The pathologist covering mailouts approval can be reached at pager #5379. If approval is given, the name of the pathologist can be selected in the drop-down menu to the right of the approval warning in Epic when ordering the test.
Methodology:
Polymerase Chain Reaction (PCR) Amplification followed by DNA Sequencing
CPT Code:
81406