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 diagosis 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 MyWES Test is necessary for proactive testing
The MyWES test can be used to test carriers prenatally before a pregnancy, using a strategy to focus on genetic variants known to be associated with significant phenotypes in homozygous or semi-homogeneous offspring. 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 genetic counseling before and after the test by medical geneticist and / or genetic counselor.
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