Whole Exome Sequencing
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.
- 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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