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Whole Exome Sequencing

Whole Exome Sequencing
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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.

QTY :

$ 600

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  • 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.

Call : 1800-102-4595 write to : info@mapmygenome.in
Toll Free Number 1800-102-4595 | Email info@mapmygenome.in | © 2019 Mapmygenome™ - Know Yourself
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