The iGenome® gene test analyses the entire genome, increasing the chances of diagnosing inherited genetic diseases
The iGenome® gene test analyses the entire genome, increasing the chances of diagnosing inherited genetic diseases
Pre- and post-test genetic counselling by a clinical geneticist and/or genetic counsellor is recommended to explain the possibilities and limitations of genetic testing and to better understand the results.
– Phenotype or family history data strongly suggest a genetic etiology, without a clear link to a specific disorder for which a genetic analysis targeting a specific gene is available on a clinical basis.
– A patient presents with a defined genetic disorder with a high degree of genetic heterogeneity, making WGS (Whole Genome Sequencing) analysis of multiple genes simultaneously a more practical approach.
– A patient presents with a possible genetic disorder, but specific genetic tests available for this phenotype, which have already been applied, have not resulted in a diagnosis.
– An infant with a possible genetic disorder in which specific genetic tests, including targeted sequencing tests, were available for this phenotype did not clarify the diagnosis.
– Vector screening: whole genome sequencing can be used for vector screening to identify individuals/pairs that carry a single copy of a genetic variant for a particular recessive disorder. This information can be vital for family planning decisions and preventing the transmission of genetic diseases to offspring.
– Screening for prevalent diseases with an older age of onset in people who are about to enter the process of having offspring.
– Asymptomatic individuals interested in the iGenome test to assess their risk of genetic disease.