Pre-conception carrier screening has been a widely adopted method over the years to determine a couple’s risk of having an affected child of certain autosomal recessive and X-linked disorders.

Improvements in technology and scientific knowledge have expanded carrier screening with greater detection rates of mutations for various populations. This test is most appropriate for individuals who wish to have children to determine their carrier status of disease and determine their pregnancy risk of having an affected child.

The Carrier Screening application analyzes well-establish autosomal recessive genes to give insights into carrier status for diseases that are severe and/or debilitating.

This information can be used to create a reproductive management plan for couples and future children. Ideally, this test utilizes sequencing data from the patient and partner to identify the inherited variants for diseases of autosomal recessive and X-linked inheritance models. The report will provide information on associated genetic risks for pregnancies and possibilities of having an affected child.

Health Screening:

Carrier Screening: This protocol is used for the analysis of variants that could be inherited and passed on as genetic conditions to offspring. When selecting a protocol, consider the specific type of analysis you wish to perform based on your sample and data. These predefined protocols provide a starting point for analysis, but they can also be customized to fit your specific requirements using the 3.10.9 Protocols feature.

Choose the appropriate protocol that aligns with your analysis goals, and then proceed to the next step of the analysis workflow.