Whole Exome Sequencing

With more than 7,000 rare diseases identified and approximately 80 % linked to genetic causes, the diagnosis of rare disease patients can often be difficult – resulting in time-consuming, costly and emotional diagnostic odysseys. With  Whole Exome Sequencing – WES, we have a genetic test at hand to diagnose in less time with the highest levels of accuracy.

The Full Exome provides highly uniform coverage of the entire exome and mitochondrial genome as well as nearly complete coverage of all known disease-causing regions in the genome, in a single test.

 

Includes analysis of CNVs.

 

Turnaround time: up to 45 days

Specimen: Saliva, Blood and BloodSpot.