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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 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 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?

• 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.

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

• 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.

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Technical information

The iGenome® test is performed using a specialized technology called Next-Generation Sequencing (NGS). A DNA sample is collected either from a blood or saliva sample provided by the patient. The patient’s DNA is then compared to a reference sample (a sample representing the “normal” sequence of human DNA) in an effort to find any differences between the patient’s DNA and the reference DNA. If differences are found, they are examined by expert laboratory geneticists. and your doctor.

  The test is performed on blood and requires 2 EDTA vials

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Frequently Asked Questions

In how many days will the results be available?

The results are ready in 4 months.

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.

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

*For more information on scientific content please contact: scientific.support@genekor.com