Variant Interpretation
Sample Receipts
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Your sample is received by our laboratory. All samples and accompanying paperwork are checked over thoughly to ensure accuracy.
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Test orders will be reviewed by our genetic counselor to ensure proper test selection
Sample Processing
- Your sample is processed according to our laboratory guidelines.
Data Analysis
- Our experienced technicians perform a thorough analysis of the raw data generated from your sample.
- For diagnostic testing, sequencing variants are confirmed with Sanger sequencing.
Clinical Review
- An in-depth review is performed for all qualifying variants including all relevant literature, databases, and prediction models.
- Variants are then classified according to the 2015 ACMG guidelines and sorted into one of the following categories: Pathogenic, Likely Pathogenic, Variant of Uncertain Significance (VUS), Likely Benign or Benign.
Final Review
- A comprehensive review is performed incorporating the available evidence, classification of variants, and patient clinical history.
- Performed by our board-certified medical and molecular genetics directors.
Reporting
- Results are generated into a report including comprehensive summaries for any Pathogenic, Likely Pathogenic, and Variants of Uncertain significane that were found. Any Likely Benign variants found are also noted on the report.
- Summaries include all available data including publications, external and internal database information, conservation data, and other relevant information.
