MyWES®

The MyWES® test utilizes Whole Exome Sequencing (WES) to conduct a comprehensive analysis of more than 20,000 genes for the identification and diagnosis of genetic disorders. The majority of genetic variations associated with genetic diseases are located in the coding exons of the human genome. Despite constituting around 1% to 2% of the genome, over 85% of all identified mutations linked to genetic disorders are believed to reside inside these regions. Consequently, doing a focused WES analysis is frequently advisable. MyWES® gene testing can be conducted during gestation, youth, or maturity. It is typically conducted for one or more of the following purposes:

When is the MyWES® (Whole Exome Sequencing) test advised for diagnostic purposes?

Phenotypic or familial history data significantly indicate a genetic origin; yet, the phenotype does not align with a specific condition for which a clinically available genetic test targeting a particular gene exists.
A patient exhibits a genetic disease characterized by significant genetic heterogeneity, rendering whole exome sequencing (WES) or whole genome sequencing (WGS) of many genes concurrently a more pragmatic strategy.
A patient exhibits a potential genetic illness; nevertheless, the existing genetic tests have not provided a diagnosis for this phenotype.
An newborn with a possible genetic condition for which particular genetic tests, including focused sequencing tests pertinent to this phenotype, did not yield a diagnosis.

When is the MyWES® (Whole Exome Sequencing) test advised for preventive measures:

The MyWES® test can be utilized for prenatal carrier screening prior to conception, employing an approach that targets genetic variants linked to diseases with dominant or recessive inheritance patterns. Due to the extensive duration and interpretative complications inherent in this technology, it is advisable to conduct carrier testing before conception.

Asymptomatic persons seeking the MyWES® test for diagnostic health reasons should obtain pre- and post-test genetic counseling from a medical geneticist and/or genetic counselor.

Technical data

Whole Exome Sequencing (WES) is conducted via a specialized technology known as next generation sequencing (NGS). A DNA sample is obtained from a blood or saliva specimen provided by the patient. The patient’s DNA is subsequently compared to a reference sample, which reflects the standard sequence of human DNA, to identify any discrepancies between the patient’s DNA and the reference DNA. Any discrepancies are analyzed by our specialized laboratory geneticists and your physician.

The test is conducted on blood and necessitates two EDTA vials.