Why is iGenome® testing so important?

The iGenome® gene test analyses the entire genome, increasing the chances of diagnosing inherited genetic diseases

  • It aims to detect variants in genes associated with well-characterised genetic diseases as well as variants in less well-mapped gene regions. Compared to more targeted approaches, it also highlights changes in parts of the genome that do not code for proteins.
  • It detects missing and duplicated gene regions more reliably, offering increased diagnostic performance. Therefore, it can help to elucidate phenotypes that remain undiagnosed despite the application of existing diagnostic tools.
  • Finally, the test is extremely useful in the context of prenatal screening to prevent the inheritance of harmful and life-threatening genetic factors.

Genetic counseling: Why it is important before and after the test

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.

When is the iGenome® – (Whole Genome Sequencing) test recommended for diagnosis?

– 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.

When is the iGenome® (Whole Genome Sequencing) test recommended for prevention:

– 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.


Technical information

iGenome® 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 35 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.

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

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