Expanded Carrier Screening (ECS)

Understand what Expanded Carrier Screening Is

With recent advances in genetic testing, it is now more accessible for individuals to participate in Expanded Carrier Screening (ECS). 

Expanded Carrier Screening

ECS is a form of genetic testing, from a blood or saliva samples, that may determine if the individual is a carrier for a certain genetic disease that can be inherited.  ECS tests mainly for diseases with autosomal recessive inheritance.  This means that if both the recipient and donor carry the mutations of the same gene, there will be a 25% chance that the offspring will inherit the disease.  If both recipient and donor test negative for the same gene, or if only one individual is a carrier, then it is considered to be at low risk of genetic inheritance.


Scientific advancements have enabled Geneticist to identify thousands of genetic conditions.  Even though there are thousands of genetic conditions that can potentially be tested, genetic testing companies focus on the conditions that are more common in the general population and are transmitted more easily to future generations. 


Some of these important testing criteria include:

- Disorders recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG)

- Extended list of disorders recommended by national Jewish societies

- Disorders that may have a severe presentation for the offspring

- A selection of disorders found on newborn screening programs

- Several X-linked disorders, including Fragile X syndrome


To assist recipients with more information about ECS, donors that have completed testing have their results provided to recipients in advance of vial purchase.  On the catalogue page, for donors that have an ECS report, it can be reviewed by clicking the Helix Icon located in the Donor Portfolio column.  This report can be shared with your treating physician to assess risk factors associated with using this donor.  It is important to note that in some cases, an Acknowledgment Consent must be completed before the vials are released and shipped to your clinic.


In addition, it is becoming more common for recipients to participate in ECS (independent of donor ECS) to better understand the possibility of having a child with a genetic condition.   This testing has the potential to understand risks whether the individual being tested is positive or negative for a gene mutation.  Being a carrier for gene mutation is not always a negative factor and obtaining this information can provide a sense of understanding that allows patients to make informed decisions.  You may wish to ask your treating physician and or genetic counselor more about ECS for yourself.


Should you have any questions, please contact us.