There are more than 5000 conditions with a known genetic basis. Many of these conditions are autosomal recessive which means that carriers of these conditions have no symptoms.
Preconception genetic carrier screening or just "carrier screening" identifies carriers of recessive genes. A carrier of a disease has mild or no symptoms of a disease but carries one normal and one affected gene. This is not a problem unless both parents are carriers when there is a risk that both can pass an affected gene to their baby. A baby with two affected genes will develop the disease.
The test is usually done before conception and initially only on the woman. If she is a carrier of one or more conditions, the male partner is also tested.
We carrier screening in line with RANZCOG guidelines. For most couples a limited screening test for the most common conditions ie Cystic fibrosis, Spinal Muscular Atrophy and Fragile X syndrome is sufficient. There is an enhanced screening test available that tests for more than 280 abnormalities and another test specifically designed for people from Askenazi Jewish descent. The cost of these tests vary but is approximately $350 for the limited test and $800 for the enhanced carrier screening test.
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