Providing leading genomic services & solutions

Clinical Exome Solutions for Rare Diseases

Whole Exome Sequencing (WES) is the most effective tool for diagnosing complicated and multi-system rare diseases. WES searches through all coding regions of currently identified genes, yielding a high chance of correctly diagnosing patients with a complex phenotype. Novogene offers comprehensive and cost-effective clinical exome solutions that meet the needs of patients and your business.

Novogene offers comprehensive clinical exome solutions:

  • High-quality WES services, bioinformatic analysis, and interpretation.
  • Fast turnaround time at a highly competitive price.
  • Customized data file types and reports.

Why Partner with Us?

Explore Clinical Exome Solutions at Novogene

1. Human Whole Genome/Exome Sequencing/Target Region Sequencing

  • Performed at Novogene CAP-accredited or CLIA-certified laboratories.
  • Data quality with high on-target reads percentage and coverage uniformity.
  • Fast Turnaround Time.

2. Bioinformatic Platform

  • Knowledge-driven NGS analysis, interpretation, and reporting platform based on the GeneCards Suite Knowledgebase 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.

3. Interpretation

  • 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 best-practice guidelines.

Service Features

Sample Types: Blood, Saliva, Buccal Swab, or DNA
Exome Capture: Agilent SureSelect Human All Exon V6
Sequencing Platform: Illumina NovaSeq 6000
Turnaround Time: 10 Working Days (from sample receival to FASTQ)

CLIA-validated WES Performance Metrics

Mean Sequencing Coverage 103X
Average Raw Data 13.75 G
Base Pairs Covered at ≥20X ≥94%
Coverage Uniformity ≥90%
Repeatability ≥98% for SNVs
≥88% for InDels
Sensitivity ≥98% for SNVs
≥90% for InDels
Specificity ≥99% for SNVs
≥98% for InDels
Mapping Rate ≥97%

Custom Deliverables

File/Report Types Sequencing Only Sequencing + Analysis Sequencing + Analysis + Interpretation
Data QC Report
BAM Files
VCF Files
Medical Report
Data releasing through AWS Free Data Uploading Service

Contact Us

Disclaimer: This test is not available in New York state.