Carrier Screening

Carrier screening is a genetic test that helps determine whether you are a carrier of certain inherited conditions. Being a carrier typically does not affect your health, but it may increase the chance of having a child with a genetic condition if both reproductive partners carry the same condition.

Most individuals carry several genetic variants without knowing it. Carrier screening provides important information to support informed family planning decisions.

Important: Carrier screening specimens are analyzed by Dynacare’s affiliated laboratory in the United States. Personal health information, including name, date of birth, and gender, will accompany the specimen.

References:
1. Wildhagen MF, ten Kate LP, Habbema JD. Screening for cystic fibrosis and its evaluation. Br Med Bull. 1998;54(4):857-875. doi:10.1093/oxfordjournals.bmb.a011734.

Carrier screening can be performed using one of the following sample types:

Cutting-Edge Science and Methodology:

Carrier Screening uses advanced sequencing technology and appropriate confirmations to support accurate carrier detection.

Testing may include:

• Full-gene sequencing for most genes
• Deletion/duplication analysis
• Enhanced SMA analysis
• Fragile X CGG and AGG repeat reporting, when indicated
• Optional partner reproductive risk summary
• Optional add-on panel, where clinically appropriate
• Other differentiators are: 1) Saliva (home collection) or blood usable for analysis.

Please refer to the updated requisition for panel selection, test codes, consent requirements, and ordering details.

What if the test shows you are a carrier?

If your result shows that you are a carrier, your healthcare provider can help explain what this means for you and your reproductive partner.

• For autosomal recessive conditions, if both partners are carriers of the same condition, each pregnancy has a 25% chance of being affected.
• For X-linked conditions, in most cases only the egg provider needs to be a carrier for there to be an increased chance of having a child affected by the condition. In some cases being a carrier of a mutation may pose a personal health risk to carriers themselves. This is known as "manifesting carriers".

Our clinical genetics team will work with your healthcare providers and you, to ensure you have the best information available to manage your care.

Genetic Counselling may be recommended to help you understand your results and next steps.

If your result is negative, could you still be a carrier?

Yes. A negative result reduces, but does not completely eliminate, the chance of being a carrier.

Carrier screening cannot detect all genetic variants or all conditions. A residual risk remains even after a negative result.

Important Information About Sample Processing

Carrier screening specimens are sent to LabCorp in the United States for testing.

When samples are sent to the United States, personal information, including but not limited to name and date of birth, will accompany the sample. Personal information held outside of Canada may be subject to disclosure to government or other authorities in accordance with applicable laws.