Short Description

NGS genetic DNA test detecets for variant and mutation detection in CCM2 gene for Cerebral cavernous malformations type 2

PreTest Information

Clinical History of Patient who is going for CCM2 Gene Cerebral cavernous malformations type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CCM2 Gene Cerebral cavernous malformations type 2 NGS Genetic DNA Test gene CCM2

Detail Description

Understanding CCM2 Gene and Cerebral Cavernous Malformations Type 2

Cerebral cavernous malformations (CCMs) are vascular abnormalities that occur in the brain and spinal cord. They are characterized by clusters of dilated, thin-walled blood vessels that can leak blood and cause seizures, headaches, and neurological deficits. Cerebral cavernous malformations type 2 (CCM2) is a genetic disorder that affects the CCM2 gene, causing the formation of these malformations.

What is the CCM2 Gene?

The CCM2 gene is located on chromosome 7 and provides instructions for making a protein called malcavernin. This protein is involved in the development and maintenance of blood vessels in the brain and other tissues. Mutations in the CCM2 gene can disrupt the normal functioning of malcavernin and lead to the formation of CCMs.

CCM2 Gene and Cerebral Cavernous Malformations Type 2

CCM2 is an autosomal dominant disorder, which means that a person only needs to inherit one mutated copy of the CCM2 gene from one parent to develop the condition. Symptoms of CCM2 usually appear in early adulthood and can range from mild to severe. They may include:

• Seizures
• Headaches
• Weakness or numbness in the arms or legs
• Difficulty speaking or understanding speech
• Visual disturbances
• Balance problems

Diagnosis of CCM2 typically involves a combination of imaging tests, such as magnetic resonance imaging (MRI), and genetic testing to identify mutations in the CCM2 gene.

NGS Genetic DNA Test for CCM2 Gene

Next-generation sequencing (NGS) is a powerful genetic testing technique that can analyze multiple genes at once, including the CCM2 gene. NGS can identify mutations in the CCM2 gene with high accuracy and sensitivity, making it an effective tool for diagnosing CCM2.

Cost of NGS Genetic DNA Test for CCM2 Gene

The cost of NGS genetic DNA test for CCM2 gene in India typically ranges from INR 15,000 to INR 25,000, depending on the laboratory and the specific test ordered. DNA Labs India offers a CCM2 gene NGS test for INR 20,000.

Conclusion

Cerebral cavernous malformations type 2 is a genetic disorder caused by mutations in the CCM2 gene. NGS genetic DNA testing can accurately diagnose the condition and help guide treatment decisions. If you or a loved one is experiencing symptoms of CCM2, consider talking to a genetic counselor or healthcare provider about the benefits and limitations of genetic testing.

For more information on NGS genetic DNA testing for CCM2 gene, contact DNA Labs India.