Short Description

NGS genetic DNA test detecets for variant and mutation detection in MAP2K1 gene for Cardiofaciocutaneous syndrome type 3

PreTest Information

Clinical History of Patient who is going for MAP2K1 Gene Cardiofaciocutaneous syndrome type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MAP2K1 Gene Cardiofaciocutaneous syndrome type 3 NGS Genetic DNA Test gene MAP2K1

Detail Description

MAP2K1 Gene Cardiofaciocutaneous Syndrome Type 3 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Cardiofaciocutaneous syndrome type 3 (CFC3) is a rare genetic disorder that affects many parts of the body. It is caused by mutations in the MAP2K1 gene. This gene provides instructions for making a protein that is involved in the MAP kinase signaling pathway, which is important for regulating cell growth and division. Mutations in this gene disrupt the normal functioning of the pathway, leading to the signs and symptoms of CFC3.

Symptoms of CFC3

The signs and symptoms of CFC3 can vary widely among affected individuals, even among those with the same genetic mutation. However, some common features of the condition include:

• Facial abnormalities, such as a high forehead, widely spaced eyes, and a small chin
• Heart defects, such as pulmonic stenosis or hypertrophic cardiomyopathy
• Intellectual disability or developmental delay
• Skeletal abnormalities, such as scoliosis or joint contractures
• Abnormal skin pigmentation

Diagnosis of CFC3

CFC3 is diagnosed based on clinical features and genetic testing. A doctor may suspect CFC3 based on physical examination and medical history. Genetic testing can confirm the diagnosis by identifying mutations in the MAP2K1 gene.

NGS Genetic DNA Test for MAP2K1 Gene

A next-generation sequencing (NGS) genetic DNA test can identify mutations in the MAP2K1 gene. This test analyzes the DNA sequence of the gene to detect any changes that may be causing CFC3. The test is performed on a blood or saliva sample and takes approximately 2-4 weeks to provide results.

Cost of NGS Genetic DNA Test for MAP2K1 Gene

The cost of the NGS genetic DNA test for the MAP2K1 gene is INR 20000 in India. This cost may vary depending on the testing facility and location.

Conclusion

CFC3 is a rare genetic disorder caused by mutations in the MAP2K1 gene. It can cause a wide range of symptoms, including facial abnormalities, heart defects, intellectual disability, and skeletal abnormalities. Diagnosis is confirmed through genetic testing, and the NGS genetic DNA test for the MAP2K1 gene costs INR 20000 in India.

If you suspect that you or a loved one may have CFC3, speak to a doctor or genetic counselor to discuss testing options and treatment options.

For more information or to schedule a genetic test, please contact DNA Labs India.