MyWES®

The MyWES® test is based on WES - Whole Exome Sequencing analysis and performs a complete screening of over 20,000 genes for the detection and diagnosis of genetic diseases. Most of the genetic variants responsible for a genetic disease are found in the coding exons of the human genome. Although they make up only 1% – 2% of the genome, a total of 85% of all known mutations responsible for genetic diseases are estimated to be found in these regions. Therefore, it often makes sense to perform a targeted WES analysis. MyWES® gene testing can be done during pregnancy, childhood or adulthood. It is usually performed for one or more of the following reasons: When is the iGenome – (Whole Exome Sequencing) test recommended for diagnosis?

When is the MyWES® - (Whole Exome Sequencing) test recommended in diagnosis?

Phenotype or family history data strongly involve a genetic etiology, but the phenotype does not correspond to a specific disorder for which a genetic test targeting a particular gene is available on a clinical basis.
A patient shows a genetic disorder that demonstrates high degree of genetic heterogeneity, making WES or WGS analysis of multiple genes simultaneously a more practical approach.
A patient has a possible genetic disorder, but specific genetic tests available have not given any diagnosis for this phenotype.
An infant with a potential genetic disorder in which specific genetic tests, including targeted sequencing tests available for this phenotype, failed to give a diagnosis.

When is the MyWES® (Whole Exome Sequencing) test recommended in prevention:

The MyWES® test can be used to screen carriers prenatally before pregnancy, using a strategy of focusing on genetic variants known to be associated with diseases with a dominant or recessive mode of inheritance. Given the long time required and the interpretive complexities associated with this technology, it is recommended that the carrier testing be performed prior to conceiving.
Asymptomatic individuals interested in the MyWES® test for diagnostic health purposes should receive pre- and post-test genetic counseling from a medical geneticist and/or genetic counselor.

Technical information

WES is performed using a special technology called next generation sequencing (NGS). A DNA sample is collected from either a blood or saliva sample given by the patient. The patient’s DNA is then compared to a reference sample (a sample that represents the ‘normal’ sequence of human DNA) in an attempt to find any differences between the patient’s DNA and the reference DNA. If there are differences, they are examined by our specialist laboratory geneticists and your doctor.

The test is performed on blood and requires 2 EDTA vials

Frequently Asked Questions

In how many days will the results be available?: Results are ready in 25 working days.
What type of sample is required for the test?: 2 EDTA vials of patient’s blood are required.
Is the test covered by any public/private insurance?: For cost coverage and related information, please contact the customer service of Genekor.
How do I make the payment for the test?: Payment can be made by bank transfer or debit/credit card
How I send the sample and receive the results?: Regarding the receipt of the sample, please contact the secretariat. The results are shared with your doctor and with you via email.

How to order the test?

Our Customer Service Team is committed to answer your questions with regards to the services offered by Genekor. If you would like to order any of the tests that Genekor performs please contact us directly.

*To complete the test, you are required to complete and send the Consent form that you will find on the link below.

CONSENT FORM

If you want to send us your sample, please contact us in order to arrange all procedures.

CONTACT

*For more information on scientific content please contact: scientific.support@genekor.com

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