Short Description

NGS genetic DNA test detecets for variant and mutation detection in MECP2 gene for Encephalopathy neonatal severe

PreTest Information

Clinical History of Patient who is going for MECP2 Gene Encephalopathy neonatal severe NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with MECP2 Gene Encephalopathy neonatal severe

Detail Description

MECP2 Gene Encephalopathy Neonatal Severe NGS Genetic DNA Test Cost INR 20000 Symptoms Diagnosis

MECP2 gene encephalopathy neonatal severe is a rare genetic disorder that affects the nervous system. It is caused by mutations in the MECP2 gene. The disorder mainly affects newborn babies and is characterized by severe developmental delays, intellectual disabilities, and other neurological symptoms. Early diagnosis and treatment are crucial for managing the symptoms and improving the quality of life of affected individuals.

Symptoms of MECP2 Gene Encephalopathy Neonatal Severe

The symptoms of MECP2 gene encephalopathy neonatal severe can vary from person to person. Some of the common symptoms include:

• Severe developmental delays
• Intellectual disabilities
• Delayed speech and language development
• Seizures
• Abnormal muscle tone
• Difficulty with coordination and balance
• Breathing difficulties
• Feeding difficulties

These symptoms usually appear within the first few months of life and tend to worsen over time.

Diagnosis of MECP2 Gene Encephalopathy Neonatal Severe

MECP2 gene encephalopathy neonatal severe can be diagnosed through genetic testing. The most commonly used test is Next-Generation Sequencing (NGS), which analyzes the DNA sequence of the MECP2 gene. The test can identify mutations in the gene and confirm a diagnosis of the disorder.

Cost of MECP2 Gene Encephalopathy Neonatal Severe NGS Genetic DNA Test

The cost of the MECP2 gene encephalopathy neonatal severe NGS genetic DNA test in India is around INR 20,000. The cost may vary depending on the laboratory and the location.

Treatment of MECP2 Gene Encephalopathy Neonatal Severe

Currently, there is no cure for MECP2 gene encephalopathy neonatal severe. Treatment focuses on managing the symptoms and improving the quality of life of affected individuals. Treatment options may include:

• Medications to control seizures
• Physical therapy to improve muscle tone and coordination
• Speech therapy to improve communication skills
• Occupational therapy to improve daily living skills

Conclusion

MECP2 gene encephalopathy neonatal severe is a rare genetic disorder that affects the nervous system. Early diagnosis and treatment are crucial for managing the symptoms and improving the quality of life of affected individuals. The NGS genetic DNA test can identify mutations in the MECP2 gene and confirm a diagnosis of the disorder. The cost of the test in India is around INR 20,000. If you suspect that your child may have MECP2 gene encephalopathy neonatal severe, it is important to consult a genetic counselor or a healthcare professional for further evaluation and testing.