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Whole Exome Sequencing

In stock
SKU
WES
Rating:
100% of 100
₹40,000.00
Mapmygenome now offers Exome Sequencing for genetic diagnosis and clinical interpretation. With high-precision reporting, detailed analysis and easy-to-read reports, this service empowers you to make the right decisions for diagnosis and/or treatment.

This includes:

  • Clinical report for genetic diagnosis
  • Personalised Genetic Counseling session (~45 mins)
  • Recommendations and guidelines from our counsellor. This may include other screening tests if any.

A physician's summary or a genetic counseling session is strongly recommended, to enable accurate analysis and interpretation.

  • Next Generation Sequencing on Illumina Novaseq
  • ~23000 genes sequenced at 70-100x average coverage
  • Variant identification for rare diseases, congenital defects, inherited/hereditary syndromes, cancer diagnosis, neuromuscular disorders, metabolic disease, epilepsy, ASDs, neuropathy, etc
  • Reporting as per ACMG and ACOG guidelines
  • Expert counseling provided after the delivery of the report
  • 2 ml Blood (EDTA) sample (or) 1 ug purified genomic DNA (or) 10 dried blood spots required
  • Turnaround time of 8-10 weeks
  • Final deliverables include Clinical report with diagnostic findings, as per client profile or physician/counsellor indications. Raw data available on request.
  • TRIO package available - exome analysis for the affected individual (proband) and two family members

*Large deletions/duplications, copy number variations, and mt-DNA analysis are beyond the scope of this test.

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