Short Description

Mutations in the FMR1 gene cause fragile X syndrome. Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. This test is used to determine the number of time the CGG triplet is repeated to diagnose Fragile X syndrome.

PreTest Information

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Detail Description

FRAGILE X (FMR1) Carrier Test Cost INR: 12000 Symptoms Diagnosis

FRAGILE X (FMR1) MUTATION Carrier Test is a genetic test that helps to identify the Fragile X Syndrome. It is a rare genetic disorder that causes intellectual disability and other developmental problems. This test helps to diagnose the condition and understand its severity. The test is conducted by analyzing the FMR1 gene, which is responsible for producing a protein that is essential for brain development.

Symptoms of Fragile X Syndrome

Fragile X Syndrome is a genetic disorder that affects both males and females, but males are more severely affected than females. The symptoms of Fragile X Syndrome vary from person to person, but some common symptoms include:

• Intellectual disability
• Speech and language delays
• Behavioral problems
• Anxiety and hyperactivity
• Autism-like behaviors
• Physical features such as a long face, large ears, and a prominent forehead.

If you notice any of these symptoms in yourself or your child, it is important to get a Fragile X Syndrome test done.

Diagnosis of Fragile X Syndrome

The diagnosis of Fragile X Syndrome is done through a genetic test. The test analyzes the FMR1 gene, which is responsible for producing a protein that is essential for brain development. The test is usually done on a blood sample or a cheek swab. If a mutation is found in the FMR1 gene, it indicates that the person has Fragile X Syndrome.

FRAGILE X (FMR1) MUTATION Carrier Test Cost

The cost of the FRAGILE X (FMR1) MUTATION SCREEN Test in India is around INR 12000. The cost may vary depending on the diagnostic center or hospital where the test is being done. It is important to consult with your doctor and get the test done at a reputable diagnostic center.

Conclusion

FRAGILE X (FMR1) MUTATION SCREEN Test is an important genetic test that helps to identify Fragile X Syndrome. The test is conducted by analyzing the FMR1 gene, which is responsible for producing a protein that is essential for brain development. The cost of the test in India is around INR 8000. If you notice any symptoms of Fragile X Syndrome, it is important to consult your doctor and get the test done at a reputable diagnostic centre.

Getting an early diagnosis can help in managing the condition and improving the quality of life of the affected individual and their family.

For more information and guidance, you can contact DNA Labs India.

Mutations in the FMR1 gene cause fragile X syndrome. Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. This test determines the number of times the CGG triplet is repeated to diagnose Fragile X syndrome.