Clinical Exome

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Clinical Exome


Precision in diagnosis, including the identification of disease subtypes, directly influences treatment and patient outcomes. Understanding of pathology at a molecular level is critical for identification of many diseases and their subtypes.

Presenting ACTIA from MedGenome, delivering ACTIONABLE insights to enable happier outcomes. Actia provides an end-to-end integrated solution to clinical genomics in India and is highly focussed on the Indian population.

ACTIA Diagram

What is Clinical Exome?

Clinical Exome is a 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. About 6000 genes are reported to be clinically relevant in OMIM and/or HGMD.

Exome: 1-2% of the genome that encodes proteins (Exons)

What is Clinical Exome?

Why Clinical Exome?

An efficient and focused method of analysing a patient’s DNA to discover the genetic cause of diseases or disabilities. Analysis of trios significantly improves the diagnostic yield compared with proband-only testing for genetically heterogeneous disorders and facilitates identification of novel candidate genes.

Retterer, Kyle., Juusola, Jane., Cho, Megan T., Vitazka, Patrik.,Millan, Francisca. Et al., Clinical application of whole-exome sequencing across clinical indications, Genet Med, 1098-3600.

Why ACTIA Clinical Exome is Better?

India’s Most Comprehensive Clinical Exome Test
Leveraged by 550+ Hospitals and 5500+ Clinicians.
MedGenome Clinical Exome Test screens 40% more clinically relevant genes
MEDGENOME Competitor E Competitor S Competitor P
Number of Genes Covered 8342 Approx. 5200 Approx. 4800 Approx. 5300
CNV Analysis
CAP Accredited (Proficiency testing)
Access to FREE Genetic Counselling
Sign off by a Clinical Geneticist
Clinically relevant for a range of disorders across:
Clinical Exome Test Categories

Test Methodology

1.Next Generation Sequencing (NGS)

Using genomic DNA extracted from blood, the coding regions of all the genes are captured and sequenced simultaneously by NGS technology on an Illumina platform. The sequence data that is generated is aligned and analyzed for sequence variants.

2.Multiplex ligation-dependent probe amplification (MLPA)

Deletion and duplication analysis of genomic DNA is carried out by MLPA. This method allows for the amplification of multiple targets with only a single primer pair.

Test sample requirements

Test sample requirements
Blood (3-5ml in EDTA tubes)
Extracted DNA samples (1µg high quality DNA)

Required forms

  • Relevant clinical information including all the clinical presentations and symptoms
  • Test request form (TRF)

Turnaround time

  • 4 weeks for NGS
  • 3 weeks for MLPA
  • 3 weeks for Sanger sequencing

Reporting of Results

The results are reported based on the recommendations of American College of Medical Genetics, as described below:


A change in a gene. This could be disease causing (pathogenic) or non-disease causing (benign).


A disease causing variation detected in a gene provides an explanation for the patients' symptoms.

Likely Pathogenic

A variant which is very likely to contribute to the development a disease however, the scientific evidence is currently insufficient to prove this conclusively. Additional evidence is expected to confirm this assertion of pathogenicity.

Variant of Uncertain Significance (VOUS)

A variant has been detected, but it is difficult to classify it as either pathogenic (disease causing) or benign (non-disease causing) based on current available scientific evidence. Further testing of the patient or family members as recommended by your clinician may be needed. It is probable that their significance can be assessed only with time, subject to availability of scientific evidence.

Dial 1800 103 3691

Our representative will get in touch with you within 24 hours to help you with the registration. You can start prescribing the test right away and help your patients gain clarity about their genetic health.

Talk to our genetic experts for free today or reach us

Our certified genetic specialists are available right now to discuss your queries before, during and after screenings.

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