TEST CODE: 008825

SCREENING FOR: HEALTHY INDIVIDUALS (IF YOU ARE PREGNANT OR THINKING ABOUT IT)

Determine your risk of passing a genetic condition on to your child, even if you do not have symptoms of the condition yourself.

TURNAROUND TIME: 10–21 calendar days (14 days on average)

PREFERRED SPECIMEN: 3mL whole blood in a purple-top tube

ALTERNATE SPECIMENS: DNA or saliva/assisted saliva

Genomed Carrier Screening

“Your genetics, your next generation.”

Carrier screening is for everyone, including healthy adults

– Carrier screening—before or during pregnancy—can let you and your partner know if your child is at risk of inheriting a genetic disease.

– A carrier is someone who has one altered copy of a gene, called a variant, that is associated with a disease that could be passed down to a child.

– It is normal to be a carrier, even if you are healthy and do not experience any symptoms.

– Most of us are carriers of at least one genetic disease.

– For most diseases, both you and your partner have to be carriers for the same condition for your children to be at increased risk. 

When to consider carrier screening?

Carrier screening is for anyone who would like to understand their risk of having a child with a genetic disorder.

It’s also recommended for people who:

– have a family history of a genetic disorder

– are at increased risk for a specific disorder based on their ethnicity, including Ashkenazi Jewish populations

– are planning to donate eggs, sperm, or embryos

“More than 80% of children with a genetic disorder are born to parents with no family history or symptoms of the disorder.”

What are the benefits of genetic testing?

Genetic testing produces information that may help you or your healthcare provider:

– establish or confirm your specific diagnosis 


– provide an explanation of the underlying cause 
of your condition 


– uncover potential risk of developing an underlying, multi-system condition that affects more than your health

– make informed medical decisions and provide an opportunity to start risk reduction strategies 


– identify other at-risk relatives for whom genetic testing is recommended 


– make informed family planning decisions 


What are the genes tested?

Our Genomed Carrier screening tests 288 genes (including those in the core carrier screen) and is appropriate for all people who want a more comprehensive carrier screen. 

What can genetic testing tell me?

A POSITIVE TEST RESULT CAN:

– Pinpoint your risk of developing diseases, enabling you to make informed medical decisions to reduce risk by creating a management plan.

– Provide an explanation for your personal or family history of diseases.

– Identify other at-risk relatives for whom genetic testing is recommended

A NEGATIVE TEST RESULT:

– Means that you do not have an alteration in the genes tested

– Your overall cancer risk depends on your medical history, family history, and environment

AN UNCERTAIN VARIANT TEST RESULT:

– Means that an alteration was identified, but it is not currently known if that alteration increases risk

– Should not be used to guide your medical care

– Always let your healthcare provider know if there are any updates regarding your family medical history.

Genomed will update your healthcare provider if new information becomes available

Reproductive options for at-risk couples

If your results show that you are at increased risk of having a child with one of the disorders screened, it is important to know that there are options available to you depending on where you are in your reproductive journey. These may include: 

– continuing to follow your current family planning and pregnancy plans

– undergoing prenatal testing during pregnancy 

– in vitro fertilization (IVF) with preimplantation genetic testing (PGT) to identify suitable embryos 

– conception through egg, sperm, or embryo donation 

Take action based on your results.

With Genomed, you can make health decisions based on your results. Our medical-grade tests are the same tests used by doctors and genetic counselors. Based on your results, you can work with your healthcare provider to consider:

– increased or earlier screenings

– lifestyle modifications

– early intervention to prevent the onset of disease