Short Description

NGS genetic DNA test detecets for variant and mutation detection in CC2D2A gene for COACH syndrome

PreTest Information

Clinical History of Patient who is going for CC2D2A Gene COACH syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CC2D2A Gene COACH syndrome

Detail Description

Understanding CC2D2A Gene and COACH Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

COACH syndrome is a rare genetic disorder that affects the brain, eyes, and other parts of the body. The condition is caused by mutations in the CC2D2A gene, which provides instructions for making a protein that plays a crucial role in the development and function of various organs and tissues.

CC2D2A gene mutations are inherited in an autosomal recessive pattern, which means that an affected individual inherits two copies of the mutated gene, one from each parent. Individuals who carry only one copy of the mutated gene are called carriers and do not typically show any symptoms of the condition.

What are the Symptoms of COACH Syndrome?

The symptoms of COACH syndrome can vary widely depending on the severity of the disease. Some of the most common symptoms include:

• Brain malformations
• Seizures
• Intellectual disability
• Abnormal eye movements
• Blindness
• Congenital heart defects
• Kidney abnormalities
• Abnormalities of the fingers and toes

COACH syndrome is a progressive disorder, meaning that symptoms often worsen over time. Early diagnosis and treatment are essential for managing the symptoms and improving the quality of life for affected individuals.

How is COACH Syndrome Diagnosed?

COACH syndrome is diagnosed through a combination of clinical evaluation, medical history, and genetic testing. A physical examination may reveal characteristic features of the condition, such as brain malformations or abnormalities of the eyes, heart, or kidneys.

Genetic testing is the most definitive way to diagnose COACH syndrome. The NGS genetic DNA test is a highly accurate and reliable test that can detect mutations in the CC2D2A gene. This test is typically performed on a blood sample or other tissue sample, and results are usually available within a few weeks.

What is the Cost of NGS Genetic DNA Test in India?

The cost of NGS genetic DNA testing for COACH syndrome in India can vary depending on the laboratory or clinic where the test is performed. On average, the cost of this test can range from INR 15,000 to INR 25,000.

However, it is important to note that some insurance companies may cover the cost of genetic testing for individuals who meet certain criteria, such as a family history of the condition or symptoms that suggest the presence of the disease.

Conclusion

COACH syndrome is a rare genetic disorder caused by mutations in the CC2D2A gene. The condition can cause a wide range of symptoms, including brain malformations, seizures, intellectual disability, and abnormal eye movements.

Early diagnosis and treatment are essential for managing the symptoms and improving the quality of life for affected individuals. Genetic testing, such as the NGS genetic DNA test, is an important tool for diagnosing COACH syndrome and can help identify carriers of the mutated gene.

If you suspect that you or a loved one may have COACH syndrome, it is important to speak with a qualified healthcare professional who can provide an accurate diagnosis and appropriate treatment.