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.
• Phenotypic data or family history strongly suggest a genetic cause, without a clear connection to a specific disorder for which a genetic test targeting a particular gene is clinically available.
• A patient presents with a defined genetic disorder, but with a high degree of genetic heterogeneity, making the analysis of multiple genes simultaneously through WGS (Whole Genome Sequencing) a more practical approach.
• A patient presents with a possible genetic disorder, but specific genetic tests available for this phenotype that have already been applied have not resulted in a diagnosis.
• An infant with a possible genetic disorder for which specific genetic tests, including targeted sequencing tests available for this phenotype, did not clarify the diagnosis.
• Carrier screening: Whole genome sequencing can be used for carrier screening to identify individuals/couples who carry a single copy of a genetic variant for a specific recessive disorder. This information can be vital for family planning decisions and the prevention of passing on genetic diseases to offspring.
• Presymptomatic screening for dominant diseases with a later onset of disease, in individuals who are about to start the process of having children.
• Asymptomatic individuals who are interested in the iGenome test for assessing the risk of developing a genetic disease.