Whole Genome Sequencing
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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