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Whole Genome Sequencing

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Mapmygenome now offers Whole Genome Sequencing as a complete solution to healthcare providers, patients and researchers alike. With high-precision reporting, detailed interpretation and easy-to-read clinical reports, this service empowers you to make the right decisions for diagnosis and/or treatment. Whole genome data can be used for clinical interpretation, genetic diagnosis, predictive screening, disease risk assessment, nutrigenomics and pharmacogenomics (drug response) profile.

This includes: -

  • Clinical report for genetic diagnosis
  • Predictive screening tests (Genomepatri/MyFitGene/MedicaMap) as per client request
  • 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
  • 95-98% of the entire genome sequenced, with 30x depth
  • 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
  • Predictive tests (Genomepatri/MyFitGene/MedicaMap) feasible on whole genome data (as per client request)
  • 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.
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Gender Female, Male
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