Short Description

NGS genetic DNA test detecets for variant and mutation detection in MECP2 gene for Rett syndrome

PreTest Information

Clinical History of Patient who is going for MECP2 Gene Rett syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MECP2 Gene Rett syndrome NGS Genetic DNA Test gene MECP2

Detail Description

MECP2 Gene Rett Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Rett syndrome is a rare genetic disorder that affects brain development in girls. It is caused by mutations in the MECP2 gene. The MECP2 gene is responsible for producing a protein that regulates gene expression in the brain. When mutations occur in this gene, it can lead to abnormal brain development and neurological symptoms.

Symptoms of Rett Syndrome

The symptoms of Rett syndrome typically appear between 6 and 18 months of age. The initial symptoms may include:

• Loss of speech and language skills
• Loss of motor skills
• Hand-wringing or hand-washing movements
• Repetitive movements
• Unsteady gait

As the disease progresses, other symptoms may appear, including:

• Seizures
• Abnormal breathing patterns
• Scoliosis
• Heart problems

Diagnosis of Rett Syndrome

Rett syndrome is typically diagnosed based on a combination of clinical symptoms and genetic testing. The genetic testing involves sequencing the MECP2 gene to identify any mutations. This can be done through a Next Generation Sequencing (NGS) genetic DNA test.

NGS Genetic DNA Test Cost INR:20000

The cost of an NGS genetic DNA test for Rett syndrome in India is typically around INR 20000. This cost may vary depending on the testing facility and the specific tests that are included in the test panel.

Conclusion

Rett syndrome is a rare genetic disorder that can have significant neurological and developmental effects. Early diagnosis through genetic testing can help families and healthcare providers develop appropriate treatment plans and support strategies. If you suspect that your child may have Rett syndrome, speak with your healthcare provider about genetic testing options.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS genetic DNA testing for Rett syndrome. Contact us today to learn more about our testing options and to schedule an appointment.