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GTR Home > Tests > Invitae Microphthalmia/Anophthalmia Disorders Panel

Interpretation

Sample Negative Report

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Not provided

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
Invitae's variant interpretation methodology adheres closely to ACMG guidelines. Observed variants are interpreted according to the framework of evidence recommended by these guidelines, based on evidence in peer-reviewed literature and Invitae's database. Our clinical report documents the evidence and logic supporting each variant interpretation to make it easy for the ordering clinician to evaluate our conclusions.
What is the laboratory's policy on reporting novel variations? Help
Novel variations are described in our clinical report to the ordering clinician. The report documents the evidence and logic supporting the interpretation of any novel variations.
Are family members with defined clinical status recruited to assess significance of VUS without charge?Help
Yes
Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes

Research

Is research allowed on the sample after clinical testing is complete?Help
Not provided

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