Fragile X Syndrome near me in Bangalore
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.
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.
Understanding Fragile X Syndrome
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.
Who Should Get Tested?
- Individuals and couples experiencing unexplained infertility or with a family history of Fragile X syndrome.
- Couples undergoing IVF procedures to identify carrier status and inform assisted reproductive techniques.
- Couples experiencing recurrent pregnancy loss (RPL).
- Women with fertility issues related to elevated FSH concentrations.
- Young women with low ovarian reserve or early menopause.
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]
Fragile X Syndrome test price for other cities
Price in | Ahmedabad | Rs. 9975 |
Price in | Allahabad | Rs. 9975 |
Price in | Asansol | Rs. 9975 |
Price in | Bhopal | Rs. 9975 |
Price in | Bhubaneshwar | Rs. 9975 |
How does home sample collection work?
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Safe Sample Collection
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Sample received at lab
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