Genetic Diseases

Genetic Testing for Fragile X Syndrome

Fragile X is the most common inherited cause of intellectual disability and a cause of autism.

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What is Fragile X?

Abnormal CGG repeat expansion in the FMR1 gene.

Symptoms

Intellectual disability, autism-like behaviors and characteristic features.

Genetic causes

Premutation and full mutation alleles in FMR1.

Inheritance pattern

X-linked with progressive expansion.

Important genes

FMR1.

Who should be tested?

Individuals with intellectual disability, autism or family history.

Recommended tests

Fragment analysis and where needed Southern blot or specialized assays.

Counseling

Assess premutation status in female relatives and discuss PGT-M.

Frequently Asked Questions

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Contact Gene Negar Ayandegan for sample submission, laboratory collaboration, or more information.

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Gene Negar Ayandegan · Genetic Testing for Fragile X Syndrome