WES test - the most extensive genetic test on the market
WES (Whole Exome Sequencing) research is the most comprehensive and modern genetic research based on NGS (Next Generation Sequencing) technology. The WES study sequences the entire human exome, i.e. all genes known at the moment (approx. 23,000 - gene coding sequences are analyzed) that may lead to the development of symptoms of genetic diseases. The WES test can be performed in both adults and children and is completely safe.
Thanks to the WES test, a wide differential diagnosis is possible - checking in one analysis (from one patient sample) hundreds of genetic causes of disturbing symptoms occurring in the patient. This means a significant shortening of the diagnostic path and avoiding the so-called a diagnostic odyssey - when the suspicions of further diseases are excluded in subsequent tests and finding the true cause of the disease takes years and carries high costs. And worst of all, it postpones the time of diagnosis and possible targeted treatment.
Make an appointment now - to the attending geneticist in our hospital
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When is the WES test particularly advisable?
- in the case of symptoms from the autism spectrum and intellectual development disorders,
- in the case of epilepsy and other neurological disorders of unknown origin,
- in the case of immunodeficiency and frequent infections (for congenital immunodeficiencies),
- in the case of orthopedic problems (dysplasia, rickets, osteogenesis imperfecta and others)
- in the case of dysmorphic features - atypical facial features,
- in the case of muscular dystrophies,
- in the case of hematological and cardiological disorders of unknown cause,
- in the case of the risk of oncological diseases,
- in the case of lung diseases of unknown origin,
- when a metabolic disease is suspected.
Importantly, the WES test allows not only to check the genetic causes of the existing symptoms, but also to obtain other relevant information about health (the risk of developing diseases that have not yet produced symptoms). The WES test also shows the carrier status, which is very important in family planning and disease risk assessment in the offspring and the patient's family.
WES test in the testDNA Laboratory
the scope of the study includes the analysis of the human exome and CNV changes (microdeletions and microduplications within the examined exome. This range is similar to the study of microarrays - molecular karyotype),
test sample: blood (we arrange for you to collect a sample for testing at the facility)
waiting time for the result: up to 10 weeks
if the patient agrees, he or she may obtain information about the risk of developing other genetic diseases unrelated to the current symptoms or family genetic burden,
once a gene analysis has been performed, it is possible to return to the future (without the need to re-sample). Thanks to this, it is possible to check if the state of medical knowledge has not changed and if no new mutations have been found that may cause disturbing symptoms,
price: 5 497 PLN
WES test - what will it not check?
It should be remembered that, like any genetic test, also the WES test has its limitations. The analyzed changes in the genetic material include point mutations in genes and CNV changes (so-called copy number variants). They are the cause of most genetic diseases. However, the WES test does not report the scope of the standard karyotype test, nor the so-called dynamic mutations in genes. This is due to technological limitations. The attending physician (genetics) is responsible for the final interpretation of the result and the influence of the detected mutation on the clinical symptoms present in the patient.
