Short Description

NGS genetic DNA test detecets for variant and mutation detection in FMR1 gene for Fragile X syndrome

PreTest Information

Clinical History of Patient who is going for FMR1 Gene Fragile X syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FMR1 Gene Fragile X syndrome

Detail Description

FMR1 Gene Fragile X Syndrome NGS Genetic DNA Test

Fragile X syndrome is a genetic condition that causes intellectual disability, behavioral and learning challenges, and various physical characteristics. It is caused by the mutation of the FMR1 gene on the X chromosome. The FMR1 gene provides instructions for making a protein called fragile X mental retardation protein (FMRP), which is essential for normal brain development. When the FMR1 gene is mutated, it can't produce enough FMRP, leading to fragile X syndrome.

Symptoms of Fragile X Syndrome

The symptoms of fragile X syndrome can vary widely, but they typically include:

• Intellectual disability
• Delayed speech and language development
• Hyperactivity and impulsivity
• Hand flapping and repetitive behaviors
• Autism spectrum disorder
• Physical features such as a long face, large ears, and a prominent forehead

Diagnosis of Fragile X Syndrome

Fragile X syndrome can be diagnosed through genetic testing, which looks for mutations in the FMR1 gene. The most common test for fragile X syndrome is called a DNA test or a PCR test. This test looks for changes in the FMR1 gene that are associated with fragile X syndrome. Another type of test is called a Southern blot test, which looks for the number of CGG repeats on the FMR1 gene.

NGS Genetic DNA Test for Fragile X Syndrome

Next-generation sequencing (NGS) technology is a more comprehensive way to test for fragile X syndrome. NGS looks at the entire FMR1 gene, including all the mutations and variations that can cause fragile X syndrome. This test is more accurate and can provide more detailed information about the specific type of mutation that is causing the syndrome.

Cost of NGS Genetic DNA Test for Fragile X Syndrome

The cost of an NGS genetic DNA test for fragile X syndrome can vary depending on the provider and the location. In India, the cost of an NGS genetic DNA test for fragile X syndrome is typically around INR 20,000.

Conclusion

Fragile X syndrome is a complex genetic condition that can have a significant impact on a person's life. Early diagnosis and treatment can help improve outcomes and quality of life for individuals with fragile X syndrome. If you suspect that you or a loved one may have fragile X syndrome, it's important to speak with a healthcare provider and consider genetic testing.

At DNA Labs India, we provide accurate and reliable genetic testing services for a range of conditions, including fragile X syndrome. Contact us today to learn more about our testing services and how we can help.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for FMR1 Gene Fragile X syndrome NGS Genetic DNA Test