Whole Genome and Exome tests

Unprecedented Breadth and Diagnostic Yield

The key service offered by Genatak is Whole Genome Sequencing. We offer this exclusive service at 30x and 50x depth. We also offer whole exome sequencing at a depth of 100x, which can detect almost all the Human genes. Following sequencing, a 2-stage analysis is carried out. Firstly all variants in the sample are identified and categorised in terms of severity. The second stage involves linking variants with disease.

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The fundamental advantage of Whole genome and  Exome Sequencing is almost all the exons in all the genes are sequenced. So the test is very comprehensive and has a superior diagnostic yield when compared to conventional methods of testing single genes, or using low-density microarrays.

The 5 key advantages of our service are:

  • Fast turnaround of 4 weeks
  • Data presented in variant filtering interface
  • Optional clinical report with sign-off from a MD Geneticist – 4-6 weeks turnaround following sequencing
  • Optional duo, trio and multi-sample, cross-analysis
  • Confirmation of mutations by forward and reverse direction Sanger sequencing

 

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