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Fragile X Syndrome
Fragile X syndrome is a genetic disorder caused by a repeat expansion in the FMR1 gene, leading to intellectual and developmental disabilities. The disorder is the most common inherited cause of intellectual disability and autism spectrum disorder. This geneti...
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Fragile X syndrome is a genetic disorder caused by a repeat expansion in the FMR1 gene, leading to intellectual and developmental disabilities. The disorder is the most common inherited cause of intellectual disability and autism spectrum disorder. T...
Understanding Fragile X Syndrome
The Fragile X Syndrome test is a comprehensive test for detecting Fragile X syndrome, the most common inherited cause of intellectual disability and autism spectrum disorder, by analyzing repeat expansions in the FMR1 gene.
Clinical Utility:
Knowledge of carrier status or a full mutation can aid in understanding the underlying genetic factors involved and guide counseling and family planning decisions for future pregnancies.
Panels Covered:
Analysis of the FMR1 gene to detect repeat expansions responsible for F...
What does Fragile X Syndrome measure?
Fragile X syndrome is a genetic disorder caused by a repeat expansion in the FMR1 gene, leading to intellectual and developmental disabilities. The disorder is the most common inherited cause of intellectual disability and autism spectrum disorder. This genetic test analyzes the FMR1 gene to detect mutations that disrupt the production of the fragile X mental retardation protein (FMRP), which is essential for normal brain development. Without adequate FMRP, the brain does not function properly, leading to the chara...
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