iGenome®

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

Why is iGenome® testing so important?

The iGenome® gene test analyses the entire genome (Whole Genome Sequencing), increasing the chances of diagnosing inherited genetic diseases.

It aims to detect variants in genes related to well-characterized genetic conditions, and variants in less well-mapped genomic regions. Compared to more targeted approaches, it reveals changes even in parts of the genome that do not code for proteins.
It more reliably detects deletions and duplications of genomic regions, offering increased diagnostic performance. Therefore, it can contribute to the clarification of phenotypes that remain undiagnosed despite the use of existing diagnostic tools.
Finally, the test is extremely useful in the context of preconception screening to prevent the inheritance of harmful and life-threatening genetic factors.
It uses next-generation NGS technology with certified MGI DNBSEQ-T7 and G400 systems, providing accurate and reliable results within 25 working days.

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.

Genekor provides free genetic counseling to individuals undergoing testing, delivered by specialized clinical geneticists.

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

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.
When previous genetic tests (targeted panels, WES) have already been performed but have not led to a diagnosis.
In newborns/children with a suspected genetic disorder, where the clinical picture is non-specific and available targeted tests have not clarified the diagnosis.

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

• Carrier screening (pre-conception carrier testing): 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.

Technical information

The iGenome® test is performed using advanced Next-Generation Sequencing (NGS) technology. A DNA sample is collected either from the patient’s blood or saliva.

The patient’s DNA is then compared to a reference sample (representing the “normal” human DNA sequence) in order to identify any variation. These differences are thoroughly evaluated by Genekor’s team of specialized geneticists, in collaboration with your treating physician.

The analysis is carried out using the MGI DNBSEQ-T7 and MGI DNBSEQ-G400 platforms, CE-IVD–certified systems that allow the simultaneous processing of multiple samples with high sensitivity and specificity, providing more reliable results in less time.

The test is performed on blood and requires 2 EDTA vials.

Frequently Asked Questions

In how many days will the results be available?: The results are ready in 25 working days.
What type of sample is required for the test?: 2 EDTA vials of patient’s blood are required.
Does any public/private insurance cover the test?: For cost coverage and related information, please contact 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 do I send the sample and receive the results?: Regarding the receipt of the sample, please contact the reception. As for the results, they are sent to your doctor and to 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.

CONSENT FORM