The iGenome gene test analyzes more than 20,000 genes associated with inherited diseases, helping the doctor diagnose diseases with unclear phenotypes and antenatal care.

 

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When iGenome is necessary 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 diagosis for this phenotype.
  • An embryo with a potential genetic disorder in which specific genetic tests, including targeted sequencing tests available for this phenotype, failed to give a diagnosis.

When iGenome Test is necessary for proactive testing

  • The iGenome 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 iGenome test for diagnostic health purposes should receive genetic counseling before and after the test by medical geneticist and / or genetic counselor.

For more scientific and technical information please contact us at: scientific.support@genekor.com

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