Leveraging unparalleled experience and expertise, from gene panels through to whole genome, our team is here to enable your lab to run a gold-standard service. We want you to be successful now and in the future. Our approach is collaborative, working with you to provide as much or as little support as you need to meet demand and scale your operations.
Full support from sample to report
Our team of registered Clinical Scientists are available to support you with:
Assay design
Defining gene content to deliver clinically relevant custom gene panels
Sequencing
Provide your own sequenced data or let us facilitate access to clinical grade sequencing through our accredited and certified partners – from gene panel to whole genome
Data analysis
Submit FASTQ files and we’ll perform variant calling. Or use your own in-house or 3rd party pipeline for variant calling and submit the BAM/VCF output
Interpretation
Leverage our clinical services team to identify, evaluate and select variants for reporting. Reported variants are classified following ACMG guidelines and annotated with supporting references and evidence when relevant
Reporting
Receive a customized report that can be reviewed independently or presented directly to the ordering clinician
From advice on clinical best practice, guidance to validation approaches and development of compliant standard operating procedures, we can support and enable you to cost-effectively meet testing demand and scale operations.
Request a consultation
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 grade reports from sequenced data in as little as one week or from DNA samples in only four weeks.
New offering!
Combining digital genomic profiles for comprehensive couples’ carrier screening
As part of a newly launched service, our Clinical Scientists can now use a couple’s genetic data to identify if they are at high risk of conceiving a child with a severe, recessive or X-linked condition. This is done by combining parental genetic data to identify any deleterious combinations of variants associated with genetic disease. These combined data, and data from both parents, are uploaded to the Congenica platform for interpretation.
The result is actionable, pre-conception knowledge of disease risk, enabling the couple to plan their future family with confidence
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