HNL genomics
Variant Interpretation Process
Our Process
From the moment our laboratory receives your sample, to the reporting of your results and beyond, our experienced and professional staff ensure that your sample is processed to the highest possible standards. After each sample is received and processed, we perform in-depth analysis and a careful review before reporting results.
Sample Receipts & Processing
- Your sample is received by our laboratory. All samples and accompanying paperwork are checked over thoroughly to ensure accuracy.
- For all inherited genetics testing, test orders are reviewed by a genetic counselor to ensure proper test selection.
- 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 inherited genetic testing, diagnostic testing, sequencing variants are confirmed with Sanger sequencing.
Clinical Review
- All results are reviewed by a team of experts
- Variants are then classified according to the most recent guidelines and sorted into one of the following categories: Pathogenic, Likely Pathogenic, Variant of Uncertain Significance (VUS), Likely Benign, or Benign.
- Variants are then classified according to the most recent 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.
- The review is performed by our board-certified pathologists and molecular and cytogenetics directors.
Reporting
- Results are generated into a report including comprehensive summaries for any pathogenic, likely pathogenic, and variants of uncertain significance that were found.
- Summaries include all available data including publications, external and internal database information, conservation data, and other relevant information.
Our Specialties
- Oncology
- Prenatal
- Cardiology
- Inherited Genetics
Contact Us
For questions about our variant interpretation process, or for more information, please contact our customer care department.
Genomics Phone
484-244-2900
Genomics Email
Genomics Phone
484-244-2900