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 Comprehensive Carrier Screening Solution by First Genomix

What is FirstScreen?

FirstScreen, developed by First Genomix, is a genetic test that is offered to help determine whether a person carries a recessive genetic disorder.

FirstScreen is one of the most innovative and comprehensive carrier screening solutions offered in the market where around 2950 genes associated with recessive genetic disorders are examined with 99% of the coding regions covered at 20X.

Who is a carrier of a genetic disorder?

Every person has two copies of each gene. A carrier individual harbors one mutated copy and another normal copy of a gene. (Except for genes carried on sex-linked chromosomes)

What are the risks of being a carrier?

Individuals who are carriers of a mutated gene do not exhibit symptoms of the genetic disorder but have a 50% statistical risk of passing on the mutated gene to their future offspring.

Types of genetic disorders
identified through carrier screening

Autosomal recessive disorders
X-linked recessive disorders (gene located on the X chromosome)

When is FirstScreen recommended?

FirstScreen is offered to all individuals who want to know their carrier status for recessive genetic disorders. However, it is particularly recommended in cases of:

  • Consanguineous marriages
  • Family history of genetic disorders
  • Being of a certain ethnic background (i.e. increased carrier rate of beta-thalassemia and familial Mediterranean fever in the Mediterranean region).

How is FirstScreen performed?

By gaining insight into their carrier status for recessive genetic conditions, couples can enhance their decision-making process when it comes to family planning.

The FirstScreen test report provides details about disease-causing variants found in genes related to recessive genetic disorders. If the patient gives consent, the report can also include information about disease-causing variants in 78 genes recommended by the American College of Medical Genetics and Genomics (ACMG). These genes are associated with conditions that can be managed through preventive measures, such as cardiovascular diseases and cancer. Additionally, the report may offer recommendations to assist in making clinical decisions based on the genetic testing results.

For couples with positive test results, genetic counseling sessions are offered to help them understand their reproductive options clearly and to help eliminate the chances of transmitting disease-causing genes to their offspring in the future.