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Multiple Endocrine Neoplasia type 2 (RET gene)
Clinical Genetic Test
Help
offered by
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
GTR Test Accession: Help GTR000500676.7
CAP
INHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITYCANCER ... View more
Last updated in GTR: 2020-08-10
View version history
Last annual review date for the lab: 2023-07-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (1): Help
Multiple endocrine neoplasia, type 2
Genes (1): Help
RET (10q11.21)
Methods (1): Help
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
Target population: Help
Not provided
Clinical validity: Help
Pathogenic variants in the RET gene are found in more …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
View lab's website
Test short name: Help
MEN2
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
2387
Lab contact: Help
Marcela Lagos, MD, Lab Director
mlagos@med.puc.cl
+56 223548515
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
How to Order, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical validity: Help
Pathogenic variants in the RET gene are found in more than 95% of families with MEN2A or MEN2B, and in more than 85% of families with FMTC.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • American Thyroid Association guidelines for management of medullary thyroid cancer: an adult endocrinology perspective. Ball DW, et al. Thyroid. 2009;19(6):547-50. doi:10.1089/thy.2009.0147. PMID: 19499986.

Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
ACMG-AMP guidelines for the interpretation of sequence variants, 2015 (PMID: 25741868).

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Decline to answer.
Recommended fields not provided:
Target population, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
By sequencing exons 8, 10, 11, 13, 14, 15 and 16, a sensitivity above 95% for MEN2 can be achieved. For validation, 11 CAP samples with known genotype were sequenced.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.