Leading Edge Genomic Services & Solutions

Genetic Testing

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.

Diagnostic Laboratories

Implement highly complex genetic testing without expensive equipment purchases, validations, or any other associated costs.

Bioinformatics Services

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.