Short Description

NGS genetic DNA test detecets for variant and mutation detection in FBN1 gene for Marfan syndrome

PreTest Information

Clinical History of Patient who is going for FBN1 Gene Marfan syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FBN1 Gene Marfan syndrome NGS Genetic DNA Test gene FBN1

Detail Description

FBN1 Gene Marfan Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Marfan syndrome is a genetic disorder that affects the connective tissue in the body. It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. This protein is an important component of connective tissue, which supports and strengthens the body's structures, including the heart, blood vessels, bones, and tendons.

Marfan syndrome is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated FBN1 gene from one parent to develop the condition. However, not all people with a mutation in the FBN1 gene will develop Marfan syndrome, and the severity of the condition can vary greatly from person to person.

NGS Genetic DNA Test Cost INR:20000

If you suspect that you or a loved one may have Marfan syndrome, it is important to get a definitive diagnosis through genetic testing. At DNA Labs India, we offer NGS genetic DNA testing for Marfan syndrome at a cost of INR 20,000. This test uses next-generation sequencing technology to analyze the entire FBN1 gene and identify any mutations that may be present.

Symptoms of Marfan Syndrome

The symptoms of Marfan syndrome can vary widely from person to person and can affect many different parts of the body. Some of the most common symptoms include:

• Tall and thin body type
• Long arms, legs, and fingers
• Flexible joints
• Curvature of the spine
• Chest that sinks in or sticks out
• Flat feet
• Crowded teeth
• Stretch marks on the skin
• Eye problems, such as nearsightedness, cataracts, and dislocated lens
• Heart problems, such as enlarged or weakened aorta, mitral valve prolapse, and arrhythmias

It is important to note that not all people with Marfan syndrome will have all of these symptoms, and some people may have only mild symptoms.

Diagnosis of Marfan Syndrome

Diagnosing Marfan syndrome typically involves a physical exam, medical history, and genetic testing. During the physical exam, a doctor will look for physical signs of the condition, such as tall stature, long limbs, and curvature of the spine. The doctor may also order imaging tests, such as echocardiography and CT scans, to check for heart and blood vessel abnormalities.

If Marfan syndrome is suspected, genetic testing can confirm the diagnosis. NGS genetic DNA testing is the most accurate way to identify mutations in the FBN1 gene and diagnose Marfan syndrome.

Conclusion

If you or a loved one is experiencing symptoms of Marfan syndrome, it is important to seek medical attention and get a definitive diagnosis through genetic testing. At DNA Labs India, we offer NGS genetic DNA testing for Marfan syndrome at an affordable cost of INR 20,000. Our tests are accurate, reliable, and confidential, and our team of experts is dedicated to providing you with the highest quality genetic testing services.