Genetic Counseling

Personalized pre- and post-test counseling support

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Non-invasive prenatal screening

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Whole exome sequencing solution

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Comprehensive carrier screening

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Hereditary cancer panel testing

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The Whole Exome Sequencing Solution by First Genomix

FirstDx is the advanced Whole Exome Sequencing (WES) solution offered by First Genomix. It is a highly efficient, comprehensive, rapid, and reliable diagnostic test performed to determine the nucleotide sequence of the protein-coding regions (known as exome) of an individual’s genome, in order to identify mutations in the DNA that are causative or relevant to the person’s health-related concerns.

When is FirstDx Recommended?

FirstDx by First Genomix is recommended in the following cases:

  • Patients presenting with complex, non-specific, and/or heterogeneous phenotypes
  • History of deceased offspring whose medical diagnosis is suspected to be of genetic etiology
  • Conditions where previous genetic testing did not yield informative results

How is FirstDx performed?

FirstDx is a highly efficient and cost-effective test that reveals the genetic causes of rare diseases with high accuracy. Over 10,000 rare diseases have been discovered so far, and around 80% of them are believed to be genetically related. FirstDx focuses on the protein-coding regions of the human genome, which contain about 85% of the known disease-causing mutations. By targeting these regions, FirstDx offers a powerful diagnostic solution, providing valuable information for precise disease diagnosis and enabling effective treatment decisions.

The FirstDx test report provides information on variants relevant to the patient's indication for testing. Additionally, and if consented to, it can also include disease-causing variants in carrier screening genes (2950 genes) and/or the 78 genes recommended by the ACMG. These genes are associated with conditions where preventive measures can be taken to reduce the impact of the clinical outcome, such as cardiovascular diseases and cancer. Additionally, the report may provide recommendations to assist in making clinical decisions based on the genetic testing results.

At First Genomix, we remain dedicated to enhancing patients' healthcare experience and improving clinical outcomes even after reports have been provided. In line with our patient-centric approach, every FirstDx (Whole Exome Sequencing) case includes the following benefits for patients:

  • Personalized genetic counseling and reproductive plans designed to meet their unique requirements.
  • Free confirmation of findings in family members to further validate the results.
  • Complimentary carrier screening to identify potential genetic risks.
  • Variant reclassification and data reanalysis at no additional cost, particularly for cases where results are inconclusive or negative.