Leading Edge Genomic Services & Solutions

Clinical Services

Clinical Services Overview

Novogene - Clinical ServicesIn addition to applying our expertise to assist in NGS-based research, Novogene has developed a set of clinical tests, with more under development. These tests, performed by Novogene Diagnostics, a subsidiary of Novogene, are currently being performed for patient diagnosis in China. These tests are being carried out in a lab that meets CLIA standards. Over time, as they gain certification and approval in other countries, they will be available for enhancing personalized medicine around the world. For the time being, the NovoPM™ test is available now for RUO (more detailed information on this assay is below). The development and content on these tests has been done in collaborations that Novogene has undertaken with premier medical institutions and clinical experts around the world. In addition to NovoPM, we offer NovoCR™ and an Inherited Disease Panel. The NovoPM and NovoCR panels have been validated on >14,000 patient samples, establishing the validity and effectiveness of the panels for content/performance. Thus, these tests can be used with full confidence in their efficacy.


The NovoPM test provides a solution for solid cancer assessment and aids in developing a personalized cancer therapy strategy. The test, run on both Illumina HiSeq sequencer and Novogene’s digital PCR platform, identifies relevant cancer-related genomic alterations in individual samples. Novogene’s CFDA-approved digital PCR platform, a highly sensitive and accurate NGS verification tool, is also available for testing liquid biopsy samples in our Tianjin lab, especially for clinical samples with suspected positive mutation sites below the minimum detection limit. There is also a non-invasive NovoPM test which analyzes circulating tumor DNA (ctDNA) alterations in plasma. Each has two versions, “Standard” and “Professional”. The Standard Version contains 40 genes. The Professional Version sequences the coding region of 550 cancer-related genes and introns from 21 genes. This covers most major cancers (Lung, Colon, Esophageal, Gastric, Breast, etc.), examining selected genes based on National Comprehensive Cancer Network (NCCN) guidelines. In a research setting these assays can be used to help scientists develop potential therapeutics.

This test is highly effective when implemented clinically with significant scientific advantages:

  • Professional Bioinformatics Team: Our team of bioinformatics experts, consisting of hundreds of bioinformaticians with thousands of projects completed, provide you with the most extensive analysis available and expert interpretation based on their many years of NGS experience.
  • Advanced Technology: We use the best target enrichment technology (Agilent) and most advanced NGS platform to provide reliable data output.
  • Sample Types: Plasma, ctDNA, DNA from tissue, and FFPE samples are acceptable.
  • Competitive Price: Most cost-effective service for cancer studies, especially for ultra-deep sequencing coverage needs.

Inherited Disease Panel

The panel includes 2742 genes associated with different categories of human genetic diseases. The genes are sequenced using NGS technology to detect the mutations that cause inherited diseases. Pathogenic variants associated with 14 categories of inherited diseases, among them, cardiovascular, nervous system, blood disorder and musculoskeletal disorders are sequenced and analyzed using our bioinformatics expertise. The panel utilizes trio-sequencing, which is a more comprehensive method of identifying mutations and an approach that significantly increases the odds of a definitive result.


This test, tested and validated on over 400 patient samples, is available for patient diagnosis in China, provides an advanced cancer susceptibility gene screening solution for people with high risk of cancer. By analyzing germ line mutations in leukocytes or oral mucosa cells, NovoCRTM helps doctors diagnose cancer at the molecular level. It also offers risk assessment for relatives of the cancer patient, which helps cancer prevention through pre-emptive medical care. The Professional Version covers 106 genes in 16 types of cancer. The test, which offers extensive exon coverage, uses international databases such as HGMD, BIC, LOVD InSiGHT, and ClinVar and a Chinese database developed in collaboration with national experts.

Novogene will continue to collaborate with leading experts to develop more tests for Molecular Diagnostics. Our aim is to introduce these tests in various countries for use as diagnostic tools that will guide the development of personalized medicine.