Fragile X Syndrome

For men & women

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672 hours

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1 test

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₹9975

~~₹10500~~

5% off

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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. 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 characteristic features of fragile X syndrome. Genetic testing typically involves analyzing DNA samples to identify specific mutations, offering precise and personalized information about an individual's genetic health.

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Test conducted by

Mapmygenome India Limited

NABL, ISO certified

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Know more about lab

Mapmygenome India Limited

NABL, ISO certified

About this lab

Mapmygenome is India's Pioneering Genomics Company: Preventive Genomics (Genomepatri, MyFitGene, MedicaMap) + Clinical (WES, WGS etc). Mapmygenome helps optimize health using genomics. We are tying up with Mapmygenome to offer their tests on our platform on a 3PL model where their tests would be available on our platform under Mapmygenome's name.

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 Fragile X syndrome.
Screening for carrier status and full mutation of the FMR1 gene.

What Does the Report Tell Me?

The Fragile X syndrome test report provides detailed information on the presence of mutations in the FMR1 gene. It identifies whether an individual is a carrier or has a full mutation, offering insights into the risk of having affected offspring. The report aids in understanding the genetic factors contributing to fertility problems and informs decisions regarding family planning and reproductive health. A sample report would include:

Carrier status or presence of full mutation.
Interpretation of genetic findings.
Recommendations for further actions based on the results.

Next Steps Post Getting the Report:

After receiving the report, the following steps are recommended:

Schedule a genetic counseling session to interpret the results and discuss the implications for family planning and reproductive health.
Discuss the findings with your healthcare provider to tailor a management plan based on the genetic insights provided.
Consider options for assisted reproductive techniques or other interventions informed by the genetic report.
Utilize the free genetic counseling offered to navigate the results, understand the genetic risks, and make informed decisions about future pregnancies.

Note: Pre-test & post-test genetic counseling can be provided. If interested please send the request to this email id: [email protected]

What does Fragile X Syndrome measure?

The Fragile X Syndrome test measures repeat expansions in the FMR1 gene, which are responsible for the production of the fragile X mental retardation protein (FMRP). It identifies whether an individual carries a full mutation or is a carrier of the gene, providing insights into the risk of intellectual disability, autism spectrum disorder, and fertility-related issues in offspring. By detecting these genetic changes, the test informs family planning decisions, guides genetic counseling, and supports personalized reproductive health management.

Test Information is reviewed by: Dr. Swati Gupta (Anand), MBBS, MD Lab Medicine and written by Dr. Lipika Khurana, PGDHHM, BDS . The test details are for information purpose only. Consult a doctor before taking any test. Last updated on: 15th Aug 2026

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Fragile X Syndrome test price for other cities

Price in	Hyderabad	Rs. 9975
Price in	Bangalore	Rs. 9975
Price in	Allahabad	Rs. 9975
Price in	Coimbatore	Rs. 9975
Price in	Bhopal	Rs. 9975

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FAQs related to Fragile X Syndrome

How is fragile X syndrome inherited?

Fragile X syndrome is inherited in an X-linked dominant manner. This means that both males and females can be affected, but males are typically more severely affected. Females can be carriers of the condition.

What are the symptoms of fragile X syndrome?

Symptoms of fragile X syndrome can vary but often include intellectual disability, learning and language difficulties, social and behavioral challenges, attention deficit hyperactivity disorder (ADHD), and physical characteristics such as a long face and large ears.

How is fragile X syndrome diagnosed?

Fragile X syndrome is diagnosed through genetic testing, typically by analyzing the FMR1 gene for the presence of the mutation. Testing may be recommended in individuals with developmental delays, intellectual disability, autism spectrum disorder, or a family history of fragile X syndrome.

How does fragile X syndrome testing impact in vitro fertilization (IVF)?

Fragile X syndrome testing in IVF can influence decisions regarding embryo selection, as identifying carrier status or the presence of a full mutation can guide the selection of embryos without the mutation for transfer, potentially improving the chances of a successful pregnancy.

Can fragile X syndrome testing be done during pregnancy?

Yes, fragile X syndrome testing can be performed during pregnancy through procedures such as chorionic villus sampling (CVS) or amniocentesis. These tests can provide information about the genetic status of the fetus.

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