Comprehensive Clinical Exome Solutions for Genetic Testing
- High-quality WES services, bioinformatic analysis, and interpretation.
- Fast turnaround time at a highly competitive price.
- Customized data ﬁle types and reports.
Explore Clinical Exome Solutions at Novogene
Whole Exome SequencingDNA ExtractionLibrary PrepSequencing
Bioinformatic PlatformData Quality ControlAlignmentVariant Calling & Annotation
InterpretationVariant Evaluation & AssertionTest Report & Sign-oﬀ
- Performed at Novogene CAP-accredited or CLIA-certiﬁed Laboratories.
- Data quality with high on-target reads percentage and coverage uniformity.
- Fast Turnaround Time.
- Knowledge-driven NGS analysis, interpretation, and reporting platform based on the GeneCards Suit Knowledge base from > 120 data sources and Novogene’s in-house database.
- Rapid diagnosis of causal mutations, and prioritization of variants based on their association with patients’ phenotypes.
- Evaluation of variants with respect to pathogenicity and causality, which are categorized according to ACMG guidelines.
- Report includes primary ﬁndings related to patients’ phenotypes, medical actionable secondary ﬁndings, as well as carrier status for autosomal recessive disorders.
- Clinical interpretation is provided following international bestpractice guidelines.
Why partner with us
Transform patient care by providing aﬀordable genetic diagnostic services to your patients.
Implement highly complex genetic testing without expensive equipment purchases, validations, or any other associated costs.
Be a one-stop shop and expand your product oﬀerings with our wet-lab capabilities, providing sequencing data quality you can trust.
Interested in learning more about our Clinical Exome Solutions?
View our informational brochure:
Disclaimer: This test is not available in New York state.