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GTR Home > Tests > CHARGE syndrome

Interpretation

Sample Negative Report

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Sample Positive Report

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Variants Of Unknown Significance (VUS) Policy And Interpretation

What is the protocol for interpreting a variation as a VUS? Help
The interpretation of a variation as a VUS is done according to the practice guidelines provided by the America College of Medical Genetics (ACMG; ACMG recommendations for standards for interpretation and reporting of sequence variations).
What software is used to interpret novel variations? Help
ALAMUT, integrating other programs (Polyphen-2, Mutation Taster, Alignment, ExPASy, BLAST) .
What is the laboratory's policy on reporting novel variations? Help
Centogene has a common practice to report all variants found in genetic testing, including novel and previously reported variants. A number of criteria are used to support a variant as being potentially disease-causing, including segregation with disease status in other affected family members, absence from a control population, and location in a conserved amino acid sequence. Evidence of altered gene function is ideally required to confirm pathogenicity, however this type of supporting evidence
Are family members with defined clinical status recruited to assess significance of VUS without charge?Help
Not provided, We are performing a majority of carrier testing with reduced pricing and in selected cases at no cost.
Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided, In case of identification of mutation that can be present in non-affected family members, or after identification of highly specific genetic change, or in additional special situations we could contact the orderer again.

Research

Is research allowed on the sample after clinical testing is complete?Help
After clinical testing is completed, with the patient’s signed consent, Centogene utilizes and archives the sample according to all regulatory guidelines and standards.

Practice guidelines

  • ACMG, 2013
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
  • EuroGentest, 2011
    Clinical utility gene card for: CHARGE syndrome.

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.