Our in-house team of registered Clinical Scientists hold decades of experience in variant interpretation gained from leading genomics laboratories in healthcare settings
Our Clinical Interpretation Service is independently assessed by Genomics Quality Assessment (GenQA), awarded full marks in each of the last three years, providing the highest quality assurance in genomic variant analysis
Rapid turn-around times
Our streamlined service provides transparent, comprehensive analysis and delivers clinical reports from DNA samples in just four-weeks and as little as one-week in urgent rapid-response cases
Achieve the best results possible
We support clinical laboratories to streamline workflows, overcome case backlogs and deliver high throughput, high quality analysis. Whatever your challenge, our team has the expertise and flexibility to support your lab achieve the best results possible.
Strengthen your capabilities
Whether you require short-term support on a specific project or support on an ongoing basis we’re here to assist you with whole exome and whole genome analysis, interpretation and reporting. Our approach is collaborative, working closely with you to ensure optimum outcomes.
Clinical Interpretation Services
Our Clinical Interpretation and Reporting Services include:
Clinical workflow optimization
Managed secondary analysis from sample, FASTQ, VCF and BAM
Evaluation of patient phenotypic information
Variant identification and classification following ACMG guidelines
Comprehensive and transparent clinical interpretation
References to publications supporting medical and scientific results
Custom clinical research reports
Congenica’s clinical interpretation service is a unique differentiator. As practicing genomic scientists they understand the clinical questions we are trying to address and work with us to develop flexible solutions. Their knowledge and experience has been key in making our variant interpretation services a success.
Dr Gholson Lyon, M.D., Ph.D.
Principal Investigator and Clinician, Institute for Basic Research in Developmental Disabilities, New York State
Reach your goals faster
From setting up a new pipeline to scaling existing operations, we’re here to help you achieve your goals faster. Getting started is easy – contact our team today