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How is the molecular diagnosis of Fragile X Syndrome performed?

By Victoria Moliner BSc, MSc (embryologist on CREA).
Last Update: 01/24/2022

Briefly, it consists of detecting the amplification of the CGG repeat in DNA samples obtained from peripheral blood using a test called PCR (Polymerase Chain Reaction).

This test is the most reliable method that exists to determine if the individual is a carrier of the premutation or the full mutation and what risk they have of transmitting it to their offspring.

 Victoria Moliner
Victoria Moliner
BSc, MSc
Embryologist on CREA
Degree in Biochemistry and Biomedical Sciences from the University of Valencia (UV). Master's Degree in Biotechnology of Human Assisted Reproduction from the UV and the Valencian Infertility Institute (IVI). Presently, she works as a Research Biologist.
Embryologist. Degree in Biochemistry and Biomedical Sciences from the University of Valencia (UV). Master's Degree in Biotechnology of Human Assisted Reproduction from the UV and the Valencian Infertility Institute (IVI). Presently, she works as a Research Biologist.