Clinical Interpretation Services

From setting up an NGS pipeline to scaling up your existing operations – our Clinical Interpretation Service is designed to relieve the pressures faced by diagnostic laboratories.

Leveraging unparalleled experience and expertise, our team of registered Clinical Scientists are here to support your lab to run a gold-standard service.

Experience you can rely on

Our in-house team of registered Clinical Scientists hold decades of experience in variant interpretation gained from leading genomics laboratories in healthcare settings

Gold-standard interpretation

Our Clinical Interpretation Service is independently assessed by Genomics Quality Assessment (GenQA), awarded full marks in each of the last four 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 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