Short Description

MECP2 Full Gene Mutation Analysis (RETT Syndrome) is performed using Sanger Sequencing methodology. Sample that have to be given is Peripheral blood in EDTA Vacutainer (2ml) for this test. You can expect results in 8-10 days

PreTest Information

MECP2 Full Gene Mutation Analysis (RETT Syndrome) can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.

Detail Description

MECP2 Full Gene Mutation Analysis (RETT Syndrome): Symptoms, Diagnosis, and Cost

RETT Syndrome is a rare genetic disorder that affects mainly females. It is caused by a mutation in the MECP2 gene, which is responsible for producing a protein that is essential for brain development. This mutation affects the normal development of the brain and causes a range of symptoms that can vary in severity. MECP2 Full Gene Mutation Analysis is a diagnostic test that can detect mutations in the MECP2 gene, helping to diagnose RETT Syndrome.

Symptoms of RETT Syndrome

The symptoms of RETT Syndrome can vary widely, and their severity can change over time. Some common symptoms include:

• Loss of speech
• Loss of hand movements
• Loss of motor skills
• Repetitive hand movements
• Unsteady gait
• Seizures
• Breathing problems
• Intellectual disability

These symptoms usually appear between 6 and 18 months of age, and they tend to worsen over time. However, the severity of the symptoms can vary widely, and some individuals with RETT Syndrome may have only mild symptoms.

Diagnosis of RETT Syndrome

Diagnosing RETT Syndrome can be challenging, as the symptoms can be similar to those of other neurological disorders. However, a diagnosis of RETT Syndrome can be confirmed through genetic testing. MECP2 Full Gene Mutation Analysis is a diagnostic test that can detect mutations in the MECP2 gene and help to diagnose RETT Syndrome.

The test involves taking a blood sample from the individual and analyzing their DNA for mutations in the MECP2 gene. The test is highly accurate and can detect mutations in over 95% of individuals with RETT Syndrome.

Cost of MECP2 Full Gene Mutation Analysis

The cost of MECP2 Full Gene Mutation Analysis for RETT Syndrome in India is INR 15000. This cost includes the genetic testing and the interpretation of the results by a qualified genetic counselor. The test is usually covered by health insurance, but it is important to check with your insurance provider before undergoing the test.

Conclusion

RETT Syndrome is a rare genetic disorder that can cause a range of symptoms, including loss of speech, motor skills, and hand movements. MECP2 Full Gene Mutation Analysis is a diagnostic test that can detect mutations in the MECP2 gene and help to diagnose RETT Syndrome. The cost of the test in India is INR 15000, and it is usually covered by health insurance. If you suspect that you or your child may have RETT Syndrome, it is important to speak with a qualified genetic counselor and undergo genetic testing.