Whole Exome Sequencing (WES)
WES is a new sequencing method based on Next Generation Sequencing (NGS) technology. It involves sequencing only the protein-coding regions, called exons, of about 20,000 protein-coding genes, which is about 1-2% of the human genome. Conversely, WES can reduce both the cost and time of sequencing by excluding other regions. In exons regions, 85% of the pathogenic genetic variants that cause genetic diseases are identified.
The aim of WES is to identify the molecular lesion that may be responsible for the patient’s phenotype. This genetic test is recommended for rare and complex conditions and for genetic syndromes with high clinical heterogeneity.
Trio WES analysis involves the simultaneous analysis of all exons in the patient’s biological parents in order to optimize the interpretation of the patient’s results offering higher diagnostic accuracy for genetic rare diseases and coverage. The three samples are analyzed simultaneously and only changes related to the phenotype of the affected individual are evaluated. It’s commonly used when parental genetic information is required and is often chosen for detecting de novo mutations.
As WES is still a relatively new diagnostic technique, doctors are cautious about which patients can benefit from it. Research has shown that exome sequencing can detect genetic mutations associated with birth defects and developmental delays. Patients with a family history of the condition, or who are looking for a diagnosis to explain their symptoms, may be able to avoid unnecessary diagnostic tests by undergoing exome sequencing.
ASTREA HEALTH offers a thorough genetic counseling before the start of WES or Trio WES and after receipt of the report, to answer all possible questions and explain to you in detail the results of the performed test and how these may affect you and your family.
ASTREA HEALTH offers testing of specific panels of genes associated with a particular phenotype (e.g. cancer or heart disease). In this way, the cost of the WES test is lower and the result more direct.
The panels offered by ASTREA HEALTH are:
– Long QT Syndrome (LQTS) panel
– Hereditary Breast and Gynecological Cancer Panel
– Neuromuscular panel
– Cancer panel
– Neurodevelopmental panel
– Noonan syndrome panel
– Hypertrophic Cardiomyopathy (HCM) Panel
Here, at ASTREA HEALTH, we also offer the WES as part of our preventive screening for better wellbeing & longevity service package. This enables us to determine your genetic predisposition to all genetic diseases. You can read more about this opportunity on the ASTREA HEALTH services: Precision Medicine for Wellbeing, Prevention & Longevity.
Sample type: Blood sample in EDTA containing tube
Time to obtain result: about 1 month