What Is Genetic Carrier Screening?

Carrier screening, performed using a simple blood draw, detects whether a patient and/or their partner carry pathogenic mutations associated with certain autosomal recessive and X-linked genetic disorders.

NTD’s genetic carrier screening panels are ideal for both physicians and those patients seeking to assess the reproductive risk for a variety of genetic conditions.


Please note – healthcare providers interested in ordering genetic carrier screening must contact the laboratory prior to sending samples 1-888-NTD-LABS (683-5227).

Pregnant mom with husband and child

With autosomal recessive disorders, couples are at increased risk of having an affected child if they are both carriers for the same disease. With X-linked disorders, couples are at increased risk of having an affected male child if the mother is a carrier.

Recessive inheritance pattern
Recessive genes

Why Is Genetic Carrier Screening Important?

When carrier screening is performed either prior to or during pregnancy, it allows patients to find out the likelihood of having a child affected with those certain disorders. Knowing about these risks ahead of time can help couples make decisions about testing options prior to and during pregnancy, and can help healthcare providers be more readily prepared to offer appropriate follow-up care at delivery.

Who Should be Offered Carrier Screening?

NTD provides comprehensive carrier screening for a broader range of patients. Traditionally carrier screening was indicated based on an individual’s family history and ethnicity. With the increasing ethnic admixture in the general population, however, there is now a need for a more comprehensive carrier screening assay. So while the specific risks will vary, carrier screening is appropriate for individuals of all ethnicities.

Which Genetic Carrier Screening Options Does NTD Offer?

Genetic Counseling

NTD has partnered with GeneMatters to provide your patients with genetic counseling services if they receive a positive genetic test. GeneMatters offers telehealth services to provide deep medical expertise for personalized genetic counseling sessions.

Learn more about how to offer our genetic counseling services to your patients.

Learn more about why NTD Eurofins has been the laboratory to trust for over 30 years.

Learn More

Genetic carrier screening is performed through our sister laboratory, EGL Genetics Eurofins.
EGL Genetics has been providing superior, cutting-edge service for more than 47 years. Their expertise spans common and rare genetic disease testing, genomic variant interpretation, test development, and research. EGL Genetics is a CLIA-certified and CAP-accredited laboratory. They work with clients across the United States and from more than 45 countries to help improve patient diagnosis.

View the complete list of references.

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