Short Description

NGS genetic DNA test detecets for variant and mutation detection in BRAF gene for Cardiofaciocutaneous syndrome

PreTest Information

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

Detail Description

BRAF Gene Cardiofaciocutaneous Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

BRAF gene Cardiofaciocutaneous syndrome (CFC) is a rare genetic disorder that affects multiple parts of the body, including the heart, face, and skin. It is caused by mutations in the BRAF gene, which provides instructions for making a protein that helps regulate cell growth and division. The syndrome is inherited in an autosomal dominant pattern, meaning that a person only needs one copy of the mutated gene to develop CFC.

Symptoms of CFC Syndrome

The symptoms of CFC syndrome can vary widely from person to person, but they typically include:

• Heart defects
• Distinctive facial features, such as a wide forehead, low-set ears, and a small chin
• Skin abnormalities, such as dry, scaly skin or patches of thickened skin
• Delayed development or intellectual disability
• Short stature

Diagnosis of CFC Syndrome

CFC syndrome is usually diagnosed based on a combination of clinical features and genetic testing. A doctor will perform a physical exam to look for characteristic features of the syndrome, such as heart defects and facial abnormalities. Genetic testing can confirm the diagnosis by identifying mutations in the BRAF gene.

NGS Genetic DNA Test for CFC Syndrome

Next-generation sequencing (NGS) is a powerful genetic testing technique that can be used to identify mutations in the BRAF gene that cause CFC syndrome. This test involves sequencing the entire gene to look for mutations that may not be detected by traditional genetic testing methods.

Cost of NGS Genetic DNA Test for CFC Syndrome

The cost of the NGS genetic DNA test for CFC syndrome varies depending on the laboratory and location. In India, the cost of the test is typically around INR:20000.

Conclusion

CFC syndrome is a rare genetic disorder that can cause a range of physical and intellectual disabilities. Early diagnosis and treatment can help improve outcomes for people with the syndrome. Genetic testing, including NGS, can help confirm a diagnosis and inform treatment decisions. If you suspect that you or a loved one may have CFC syndrome, speak to a healthcare provider or genetic counselor to learn more about testing options.

For more information and to schedule a test, contact DNA Labs India today.