Mutation Screening
With today’s advanced medical technology, it is possible to help treat a family member suffering from a hereditary condition that can be cured through a bone marrow transplant. For the transplant to be successful, a compatible HLA match is required.
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Mutation Screening helps couples determine whether they are carriers of a hereditary disease. This test, performed using Sanger Sequencing, is particularly recommended when a specific genetic condition has already been identified in the family or when there is a known history of that disorder. Mutation Screening is ideal for detecting diseases caused by a limited number of mutations or for analyzing small genes. Cosmomed Fertility Center provides comprehensive Mutation Screening services for accurate and timely results.
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What Are the Steps for Completing Mutation Screening?
If you and your partner suspect that you may be carriers of a specific hereditary condition, Mutation Screening can help confirm whether either of you carry the genetic mutation. This test is done through a simple blood sample. Once analyzed in our Genetics Laboratory, we can determine if one or both partners are carriers of the identified genetic disease. If carrier status is confirmed, Pre-Implantation Genetic Testing (PGT) combined with IVF can be used to ensure your future children are not affected by the condition.