ACTIA

Trio Exome Analysis

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ACTIA

Trio Exome Analysis

ACTIA

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 Trio Exome Analysis?

Next generation sequencing of Trio Exome Analysis family pedigrees offers a powerful approach for the identification of causal mutations for inherited diseases. Trio Exome Analysis can be used to identify variants inherited from the parents causing recessive disease or dominant disease. Additionally, de novo variants that occur in the offspring but are not present in either of the parents can also be detected.

Trio Exome Analysis using whole exome/clinical exome sequencing facilitates analyses of thousands of genes simultaneously to identify genetic alterations like insertions/deletions (indels), single nucleotide variants (SNVs) and copy number variations (CNVs). This familial analysis based approach also helps in excluding variants, which do not conform to Mendelian transmission, thereby reducing false positive calls and narrowing down the potential candidate variants.

The overall diagnostic yield of Trio Exome Analysis exome sequencing has a 5-10% increase compared to analyzing proband only.

ACTIA Diagram

Why Trio Exome Analysis?

The test is used only where the individual's medical examination, laboratory findings and family history suggest underlying genetic etiology. This test can be done for one or more of the following reasons:

  • Patient with undiagnosed genetic disease (extensive evaluation and multiple genetic tests, without identifying the etiology)
  • To facilitate medical intervention, treatment etc
  • To guide reproductive planning and assessment of recurrence risk Screening of genetically heterogeneous diseases (where the same disease or condition can be caused by several genes)
  • Prognosis (based on family history)
  • Where there is no other alternate technique to confirm the diagnosis and to end the diagnostic odyssey

Why ACTIA Trio Exome Analysis is Better?

  • Mendelian QC to assess the relatedness based on variants obtained
  • Combined variant calling increases the accuracy of variant calling and ability to make variant calls in low coverage regionss
  • Better diagnostic yield compared to analyzing single proband sample
  • Simultaneous analysis for all modes of inheritance i.e. autosomal recessive, autosomal dominant and de novo variants
  • Prioritization of variants based on patient phenotype
  • Ability to ascertain significance of clinically relevant variants especially compound heterozygous and de novo variants
ACTIA Diagram

Test Methodology

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
Geknow Hub

Geknow Hub

MedGenome’s commitment to sharing knowledge related to Genes and Genomics

As a leader in providing genomics testing solutions in India, MedGenome recognizes that it’s imperative for a clinician to be enabled with the most accurate information and the deepest insights for providing better treatment outcomes. Through our GeKNOW hub, we give you the best and latest rich sets of information, you can learn about, and capitalize on the tremendous possibilities that our solutions can help you with.

Free Genetic Counselling

Free Genetic Counselling

ACTIA offers all your patients FREE pre & post-test genetic counselling with our expert and certified genetic counsellors.

Best available support for your patients and families via

  • Latest technologies
  • Helpful customer service
  • Clear result interpretation
  • Counselling sessions with our Genetic Counsellors
Dial 1800 103 3691
diagnostics@medgenome.com

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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