Mutation Screening - Fakih Fertility Center
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  • Mutation Screening

    Mutation Screening is a tool for couples to identify if they are carriers of a heredity disease. Mutation Screening by Sanger Sequencing is most often recommended when the genetic disease has previously been identified or there is a known family history for a particular genetic disease. Mutation Screening is used to detect genetic diseases caused by a few number of mutations or for detecting mutations in small genes. Fakih IVF Fertility Center is one of the few IVF centers in the Region completing Mutation Screening in-house.

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    What are the steps for completing Mutation Screening?

    If you suspect that you and your spouse may be a carriers of a particular, known, genetic disease, you may be candidates for Mutation Screening in order to diagnosis the genetic disease. Mutation Screening is completed by blood test. Once our Genetics Laboratory has analyzed your results, we will be able to tell you if you are and your spouse are carriers of that particular genetic disease. If we find that you are carriers, Pre-Implantation Genetic Diagnosis (PGD) completed during an IVF cycle is used in order to ensure that your children will not be affected by the genetic disease.

    What is Mutation Screening by Sanger Sequencing?

    Sanger Sequencing is a technique developed by Frederick Sanger and colleagues in 1977. Sanger Sequencing consists of detecting mutations in the DNA sequences with high accuracy but low throughput. Because of this, Sanger Sequencing is used to detect mutations in genes where only a few mutations are causing a disease and for detecting mutations in small genes. Sanger Sequencing is also used to confirm mutations identified by Next Generation Sequencing. 

    Fakih IVF Fertility Center’s Genetics Laboratory is led by Dr. Ali Hellani, a world-renowned Reproductive Geneticist with over 15 years of experience, particularly in Pre-Implantation Genetic Diagnosis (PGD). Dr. Hellani was the first scientist worldwide to diagnose multiple diseases on a single cell as well as the first to diagnose the whole set of chromosomes on a single cell. He is currently the first and only scientist to perform PGD on single gene disorders with direct HLA matching. To learn more about any of the services described above or to discuss your personal case, contact or book an appointment today.