Hyperparathyroidism panel. NGS panel of 13 genes.

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000597160.1
Last updated: 2021-11-30
Annual Review past due read more
Test version history
- 597160.1, last updated: 2021-11-30

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Polyglandular autoimmune syndrome, type 1
Offered by Genologica Medica

Interpretation

Not provided

Variants Of Unknown Significance (VUS) Policy And Interpretation

What is the protocol for interpreting a variation as a VUS? HelpDescription of how the laboratory handles Variants of Unknown Significance. This may be a general statement for the laboratory and not specific to this test.: Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
What software is used to interpret novel variations? HelpList of the software applications that the lab uses to interpret novel variants. Examples for medical molecular genetics interpretation include: Melina II, MEME Suite, VISTACartagenia Bench, Alamut, SIFT, PolyPhen, Align-GVGD, GeneSplicer, laboratory proprietary internal software.: SIFT, PoliPhen, Mutation Taster, PROVEAN
Are family members with defined clinical status recruited to assess significance of VUS without charge?HelpDoes the laboratory offer testing for a variant of unknown significance to family members, free of charge? (Is test offered to affected individuals and/or presumed obligate carriers to help determine clinical significance of a VUS?): Not provided, Not provided
Will the lab re-contact the ordering physician if variant interpretation changes? HelpDescription of laboratory procedures to monitor and address reinterpretation of genetic tests results over time, after issuing the report. Does laboratory systematically re-evaluate prior interpretations and generate new reports, or does the person ordering the test need to periodically recontact the labortory to inquire about changes in test interpretation?: Yes

Research

Is research allowed on the sample after clinical testing is complete?HelpAfter clinical testing is complete, does the laboratory perform any research testing using the submitted specimen? (Quality control is not considered as research for this question.): Not provided

Reviews

Clinical resources

Practice guidelines

Orphanet, 2010
Orphanet, Type 1 autoimmune polyendocrinopathy, 2010

Molecular resources

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.