Mapmygenome now offers Whole Exome 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.
Genetic counseling | Physician support
In order to be HIPPA compliant and in order to protect YOU, we require a doctor's/physician's summary or a genetic counseling session before purchase
You can either book a session with MapMyGenome directly, or choose to see your own genetic counselor or doctor before ordering this test
Before sending you the test kit, we'll request a copy of the report or proof of the session
MY DNA CHOICES. likes
The most genetic information available in one test
Recommendations and guidelines from our counselor or a genetic counselor of your choice
Details
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.
Why is Whole Exome Sequencing right for you?
Thousands of genetic variants are uncovered every day - extensive coverage and mapping with reference databases is a key part of our analysis
Sanger confirmation of pathogenic variants and extended clinical reports are available as an add-on package
Ideal for targeted management of complex syndromes, epilepsy, ASDs, neuropathy, heterogenous phenotypes
Expert counseling provided after the delivery of the report or you can select your own practitioner
Benefits | Features - The Science behind this test
Platform: Next Generation Sequencing (Illumina HiSeq)
Coverage: 30X
Sample type
1 ug purified genomic sample ( i.e. 2 x Buccal swab)
