Short Description

NGS genetic DNA test detecets for variant and mutation detection in ABCC9 gene for Cantu syndrome

PreTest Information

Clinical History of Patient who is going for ABCC9 Gene Cantu syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ABCC9 Gene Cantu syndrome NGS Genetic DNA Test gene ABCC9

Detail Description

ABCC9 Gene Cantu syndrome NGS Genetic DNA Test cost INR:20000 symptoms diagnosis - DNA Labs India

Cantu syndrome is a rare genetic disorder that is inherited in an autosomal dominant manner. It is caused by mutations in the ABCC9 gene, which provides instructions for making a protein that regulates the flow of potassium ions in cells. This can lead to a variety of symptoms such as:

• Abnormal facial features
• Cardiac abnormalities
• Skeletal abnormalities
• Joint hypermobility
• Intellectual disability
• Low muscle tone

The severity of these symptoms can vary widely, even among individuals with the same genetic mutation.

To diagnose Cantu syndrome, a genetic test is required. DNA Labs India offers NGS Genetic DNA Test for Cantu syndrome at a cost of INR 20,000. This test uses Next Generation Sequencing technology to analyze the entire ABCC9 gene and detect any mutations that may be present.

If a mutation is found, genetic counseling is recommended to help individuals and their families understand the implications of the diagnosis. There is currently no cure for Cantu syndrome, but treatment can help manage the symptoms.

It is important to note that genetic testing is not recommended for everyone. It is typically recommended for individuals who have symptoms of a genetic disorder or a family history of a genetic disorder.

If you suspect that you or a loved one may have Cantu syndrome, it is important to speak with a healthcare professional who can help determine if genetic testing is appropriate.