Short Description

NGS genetic DNA test detecets for variant and mutation detection in MAP2K2 gene for Cardiofaciocutaneous syndrome type 4

PreTest Information

Clinical History of Patient who is going for MAP2K2 Gene Cardiofaciocutaneous syndrome type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MAP2K2 Gene Cardiofaciocutaneous syndrome type 4 NGS Genetic DNA Test gene MAP2K2

Detail Description

MAP2K2 Gene and Cardiofaciocutaneous Syndrome Type 4: A Comprehensive Guide

Cardiofaciocutaneous syndrome (CFC) is a rare genetic disorder that affects multiple systems in the body. It is caused by mutations in genes that are involved in a specific pathway called the RAS/MAPK signaling pathway. One such gene is MAP2K2, which is associated with CFC syndrome type 4. In this blog, we will discuss the symptoms, diagnosis, and DNA test cost for MAP2K2 gene-related CFC syndrome type 4.

Symptoms of CFC Syndrome Type 4

CFC syndrome type 4 is characterized by a combination of symptoms that affect the heart, face, and skin. Some of the common symptoms include:

• Heart abnormalities such as congenital heart defects or arrhythmia
• Dysmorphic facial features such as a large forehead, wide-set eyes, and a small chin
• Abnormal skin pigmentation, dry skin, and eczema
• Delayed development, intellectual disability, and behavioral problems

These symptoms can vary in severity and may not always be present in individuals with CFC syndrome type 4. It is important to note that not all individuals with MAP2K2 gene mutations will develop CFC syndrome type 4.

Diagnosis of CFC Syndrome Type 4

CFC syndrome type 4 is a rare genetic disorder, and diagnosis can be challenging. A clinical diagnosis is usually made based on the presence of characteristic symptoms and physical findings. However, genetic testing can confirm the diagnosis and identify the underlying genetic mutation.

Next-generation sequencing (NGS) is a powerful tool for genetic testing and can detect mutations in multiple genes simultaneously. NGS-based genetic testing for MAP2K2 gene mutations is available in India and can be performed on a blood or saliva sample. The test cost for MAP2K2 gene-related CFC syndrome type 4 is approximately INR 20,000.

Conclusion

CFC syndrome type 4 is a rare genetic disorder caused by mutations in the MAP2K2 gene. It is characterized by a combination of symptoms that affect the heart, face, and skin. Diagnosis can be challenging, but genetic testing can confirm the diagnosis and identify the underlying genetic mutation. NGS-based genetic testing for MAP2K2 gene mutations is available in India for approximately INR 20,000. Early diagnosis and management can improve the quality of life for individuals with CFC syndrome type 4 and their families.

If you suspect that you or your child may have CFC syndrome type 4, it is important to consult with a healthcare professional who can provide a thorough evaluation and appropriate genetic testing.