Short Description

NGS genetic DNA test detecets for variant and mutation detection in MEGF8 gene for Carpenter syndrome type 2

PreTest Information

Clinical History of Patient who is going for MEGF8 Gene Carpenter syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MEGF8 Gene Carpenter syndrome type 2 NGS Genetic DNA Test gene MEGF8

Detail Description

Understanding MEGF8 Gene and Carpenter Syndrome Type 2

MEGF8 gene is a gene that is responsible for providing instructions for making a protein that plays a crucial role in the development of various organs in the body, including the brain, heart, and kidneys. Carpenter Syndrome Type 2 is a rare genetic disorder that is caused by mutations in the MEGF8 gene. It is characterized by a distinct facial appearance, skeletal abnormalities, and intellectual disability.

Symptoms of Carpenter Syndrome Type 2

The symptoms of Carpenter Syndrome Type 2 can vary from person to person, but some of the most common symptoms include:

• Distinct facial appearance, including a small head, prominent forehead, widely spaced eyes, and a small jaw
• Skeletal abnormalities, including an abnormally shaped skull, fused bones in the spine, and abnormal curvature of the spine
• Intellectual disability, ranging from mild to severe
• Delayed development, including delayed motor skills and language development
• Heart defects, such as a hole in the heart or an abnormal heart rhythm

Diagnosis of Carpenter Syndrome Type 2

Carpenter Syndrome Type 2 is diagnosed through a combination of clinical evaluation, genetic testing, and imaging studies. A physical examination can help identify the characteristic facial features and skeletal abnormalities associated with the condition. Genetic testing, such as Next-Generation Sequencing (NGS), can identify mutations in the MEGF8 gene that cause the disorder. Imaging studies, such as X-rays and CT scans, can help identify skeletal abnormalities and heart defects.

NGS Genetic DNA Test Cost

The cost of NGS Genetic DNA testing for Carpenter Syndrome Type 2 can vary depending on the laboratory and location. However, in India, the cost of the test is typically around INR 20,000.

Conclusion

Carpenter Syndrome Type 2 is a rare genetic disorder caused by mutations in the MEGF8 gene. It is characterized by a distinct facial appearance, skeletal abnormalities, and intellectual disability. Genetic testing, such as NGS, can help diagnose the condition and provide valuable information for treatment and management. If you or a loved one is experiencing symptoms of Carpenter Syndrome Type 2, it is important to speak with a healthcare provider and consider genetic testing.

For more information about genetic testing for Carpenter Syndrome Type 2 or other genetic disorders, contact DNA Labs India.