Medical Exome Panel

Description of Medical Exome Panel

Though whole exome sequencing is the gold standard for disease research, it remains expensive for some genetic centers. A panel comprising all OMIM-referenced (Online Mendelian Inheritance in Man, 2016) genes called "medical exome" constitute an alternative strategy to whole exome sequencing, but its efficiency is poorly known.

CD Genomics' medical exome panel includes 3800 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 more than 5300 kinds of inherited diseases, among them, cardiovascular, nervous system, blood disorder and musculoskeletal disorders are sequenced and analyzed using our bioinformatics expertise, by which can help researchers decode the complexities molecular biology mechanism of genetic disease.

Highlights of Medical Exome Panel

  • Target-enrichment sequencing by Illumina provides ultra-deep sequencing to target specific genomic regions with lower costs.
  • SNVs, indels, and even low-frequency variants below 2% allele frequency can be detected.
  • Strict quality control throughout the pipeline workflow to ensure the accuracy and repeatability of the sequencing.
  • Fast turnaround time.
  • Provide a list of comprehensive genes related to inherited disease according to OMIM.

Applications of Medical Exome Panel

  • Inherited disease related mechanism studies
  • Biomarker discovery
  • Therapeutic target discovery
  • Drug target discovery
  • Discover rare mutations and detect low frequency mutations

Service Specifications

Service Specifications

Sample Requirements

  • Sample types for genome DNA from tissues, whole blood, cultured cells, and formalin-fixed paraffin-embedded (FFPE) tissues.
  • Sample amount: ≥ 2 μg
  • Collection: DNA samples are stored in TE buffer or equivalent. Blood is collected by routine blood collection kits.
Service Specifications


  • Illumina PE150
  • Enrichment Method: Hybridization capture
  • More than 80% of bases with a ≥Q30 quality score
  • Recommended sequencing depth: 200x
Service Specifications

Bioinformatics Analysis

We provide customized bioinformatics analysis including:

  • Read alignment
  • Variant calling/Annotation

Gene Panel Workflow

CD Genomics provides the accurate and cost-effective medical exome panel sequencing and bioinformatics analysis. Our professional expert team executes quality management, following every procedure to ensure confident and unbiased results. The general workflow for medical exome panel sequencing is outlined below.

Gene Panel Workflow

For more information about the medical exome panel or need other amplification requirements, please contact us.


  1. Xu Y H, et al. Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience. Genetics in Medicine, 2018. 20, 1045-1053.
  2. E Chérot, et al. Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. Clinical Genetics, 2018. 93,567-576.
* For Research Use Only. Not for use in diagnostic procedures.

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