DNA Test | Whole Exome Sequencing - WES

NAPPI CODE:

MAP MY GENOME

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
  • Ideal for understanding complex conditions

Benefits | Features

  • Primary Genotype Report
  • Personalised Genetic Counseling session (~45 mins)
  • 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) 

Turnaround time

 8 weeks