Clinical Exome | Actia | MedGenome

What is Clinical Exome?

Clinical Exome is a DNA test that can identify the molecular basis of a genetic disorder in individuals with a genetically heterogeneous disease and/or an atypical presentation of a genetic disorder. This comprehensive clinical exome test covers ~8332 genes including the most relevant disease-associated genes from OMIM, HGMD and ClinVar.

What genetic test to choose? How to choose the right genetic test?

Indications for prescribing Clinical Exome testing

  • In cases where Clinical findings or family history is suggestive of an underlying genetic etiology
  • To screen for genetically heterogeneous diseases
  • To detect an undiagnosed genetic disease (diagnostic odyssey) in a patient
  • To facilitate medical intervention and/or treatment
  • To confirm the suspected genetic diagnosis
  • To guide reproductive planning and assessment of recurrence risk
  • To determine a prognosis (based on family history)

Clinically relevant for a range of disorders across

  • Rare Diseases
  • Inherited Cancers
  • Neurology
  • Cardiology
  • Endocrinology
  • Nephrology
  • ENT
  • Others

MedGenome Clinical Exome Version 3

MedGenome’s Clinical Exome is already India’s Most Comprehensive Clinical Exome Test. Our enhanced Clinical Exome (MedGenome Clinical Exome) offers better coverage, superior sensitivity, and specificity.

Does the number of additional genes make a difference?

Inherited developmental diseases are genetically heterogeneous and are individually rare. Thus, additional disease-associated genes increase the potential for better diagnosis.

  • Approximately 2000 additional genes are present in MedGenome Clinical Exome V3
  • More than 1000 genes unique to MedGenome Clinical Exome V3 are associated with disease phenotypes in OMIM, HGMD, or ClinVar with ≥ 98% coverage at 20x depth of coverage
  • Including ~260 genes with a known molecular basis in OMIM

Why MedGenome Clinical Exome is superior ?

  1. Coverage: Clinical phenotypes associated with 3977 OMIM genes, 5849 HGMD genes, and 4284 ClinVar genes.
  2. Enhanced coverage of genes: Additional coverage of genes wherein pathogenic mutations have been reported in HGMD and ClinVar.
  3. Mutations in non-coding regions: Coverage of disease-causing pathogenic mutations ~13,000 from HGMD in non-coding and promoter regions of the genes.
  4. Mitochondrial: Coverage of complete mitochondrial genome (both coding and non-coding genes).
  5. Enriched targets: Additional probes for improved CNV detection.
  6. Proficiency: Requisite quality control steps throughout the workflow, from the laboratory sample processing until its interpretation, ensures consistency, validity, and accuracy of results (CAP predictive testing 99.8% accuracy).
  7. CNV: CNV detection increases the diagnostic yield without any additional test


Figure: Representation of average coverage of genes (n=100) in MedGenome Clinical Exome V3 based on disease-associated gene source HGMD, ClinVar, OMIM, ACMG (59 genes)

Clinical Exome Test Including CNV

MedGenome Clinical Exome proprietary CNV detection method:

  • Single and multi-exon aberrations
  • Deletions and duplications
  • Both reported and novel events


  • Heterozygous deletion/duplication for >200bp: ~75%
  • Homozygous deletion: >90%
  • Detection of CNVs as small as 300 bp*

* Sensitivity of CNV detection varies with the length of the region and sequencing depth


The detection of the significant variants differs based on the clinical diagnosis and underlying genetic etiology. The diagnostic yield of Medgenome Clinical Exome is comparable to those reported in the literature at 36%. The diagnostic yield of familial samples with a strong family history are higher compared to proband only analysis*.

Why recommend Clinical Exome?

  • A comprehensive and efficient method of analyzing DNA to identify the genetic cause of diseases or disabilities
  • Can be leveraged for several autosomal dominant, recessive, and X-linked disorders
  • Cost-effective, especially for broad spectrum of genetic disorders with overlapping phenotype
  • Reporting of clinically relevant disease-causing gene mutations based on OMIM or HGMD
  • Detection of both novel and reported mutations
  • Better diagnostic yield through:
    1. High sequencing accuracy
    2. High-quality variant calling
    3. Clarity in interpretation

MedGenome Clinical Exome V3 test details

 Clinical Exome (MedGenome)
Panel size~29 Mb
Number of genes8332 (includes 10bp flanking sequences to CDS)
Panel coverage80-100x
Coverage at >20x≥ 95%
Annotation sourceClinVar, HGMD, Ensembl, OMIM, RefSeq, and literature
Clinical exomeSingleTrioCarrier testing
SampleProbandParents and probandCouples
Sample requirements Whole blood or extracted DNA of good quality Whole blood or extracted DNA of good quality Whole blood or extracted DNA of good quality
TAT28 working days28 working days28 working days
Segregation StudiesOn request in the parents by Sanger sequencingThis is done as part of the analysisOn request in the affected/unaffected family members by Sanger sequencing

Reporting of Results

The clinical and sequenced data is systematically evaluated and reviewed by an experienced analyst and a clinical geneticist. The results are reported based on the recommendations of the American College of Medical Genetics (2015). We ensure the best available support for your patients and families via:

  • Latest technologies
  • Helpful customer service
  • Clear interpretation of results
  • Counseling sessions with our Genetic Counselors


MedGenome offers all your patients FREE pre- and post-test genetic counselling with our expert, certified genetic counsellors. This genetic counseling will enable patients to:

  • Make an informed decision
  • Understand risk if any
  • Discuss the implications of the result
  • Connect them to resources or support groups


Clinical Exome


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