Ent Genetics

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Ent Genetic


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

ENT Genetics

  • One of the most common birth defects is congenital deafness affecting as many as 3 in every 1,000 babies born
  • Inherited genetic defects play an important role in congenital hearing loss, contributing to about 60% of deafness occurring in infants
  • It is also likely that genetics plays an important role in hearing loss in the elderly
  • Hearing loss and deafness can be due to Inherited genetic defects, medical problems, environmental exposure, trauma and medications

Hearing Impairments


  • Accounts for approximately 70% of inherited hearing loss
  • 80% of non-syndromic hearing impairment cases have an autosomal recessive mode of inheritance
  • 20% are caused by autosomal-dominant genes
  • Less than two percent of cases are caused by X-linked and mitochondrial genetic malfunctions


  • Hearing impairment is associated with other clinical abnormalities
  • 15 to 30% of hereditary hearing impairments are syndromic
  • Over 400 syndromes are known to include hearing impairment

These can be further classified as:

  • Syndromes due to cytogenetic or chromosomal anomalies
  • Syndromes transmitted in classical monogenic or Mendelian inheritance
  • Syndromes due to multi-factorial influences
  • Syndromes due to a combination of genetic and environmental factors

ACTIA offers:

A broad range of pre-designed gene mutation panels which have been developed with in-depth disease understanding of the genetic disorder incorporating the latest research in that particular domain.

New updated technologies, helpful customer service, and clear result interpretation along with counselling sessions with our Genetic Counsellors, make us equipped to provide you the best available support for your patients and families with inherited metabolic disorders.

Gene Panels:

  • Connexin-26 (GJB2) deletion/duplication analysis
  • Connexin-26 (GJB2) gene analysis
  • Deafness gene panel
  • Mondini defect (SLC26A4) gene analysis
  • Waardenburg syndrome gene panel
ACTIA offers:

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
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

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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