Preconception Screening

Preconception carrier screening can identify individuals or couples at high risk of having a child with a serious heritable disorder. These people are carriers of autosomal recessive or X-linked recessive conditions.

We can offer a preconception carrier screening panel for three common disorders:

  • Cystic fibrosis (CF)
  • Spinal muscular atrophy (SMA)
  • Fragile X syndrome (FXS)

There are two options:

  1. A three-gene panel looks for mutations responsible for three common genetic disorders: cystic fibrosis, spinal muscular atrophy and Fragile X syndrome. 
  2. The Beacon expanded carrier screen is a screening test that looks for mutations in 299 autosomal recessive genes and 28 X-linked genes which cause serious disorders affecting babies and children. 

The enclosed doctor brochure outlines the rationale and process for testing. We recommend that testing of both partners be performed prior to conception. The tests can also be done in early pregnancy. Genetic Counselling services included in the costs of these tests.

For more information, visit Sonic Genetics

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