Short Description

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

PreTest Information

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

Detail Description

DNA Labs India: FBN1 Gene MASS Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

MASS syndrome is a genetic disorder that affects the connective tissues 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 essential component of connective tissues, including those that make up the skeletal system, heart, blood vessels, and eyes.

MASS syndrome is a rare condition, and its prevalence in the general population is unknown. The symptoms of MASS syndrome can vary widely, even among individuals with the same genetic mutation. Some common symptoms of MASS syndrome include:

• Tall stature
• Long limbs
• Joint hypermobility
• Abnormal curvature of the spine (scoliosis)
• Weakness or dilation of the aorta (the main blood vessel that carries blood from the heart to the rest of the body)
• Eye problems, including nearsightedness, dislocated lenses, and detached retinas

Diagnosis of MASS syndrome typically involves a physical exam, genetic testing, and imaging tests. The genetic test for MASS syndrome involves sequencing the FBN1 gene to look for mutations. This test can be done using next-generation sequencing (NGS) technology, which allows for the analysis of multiple genes simultaneously.

DNA Labs India offers a comprehensive NGS genetic DNA test for MASS syndrome. The cost of this test is INR 20,000. This test includes sequencing of the FBN1 gene as well as other genes associated with connective tissue disorders. Results from this test can help confirm a diagnosis of MASS syndrome and provide information on the specific genetic mutation involved.

If you or a loved one is experiencing symptoms of MASS syndrome, it is important to seek medical attention promptly. Early diagnosis and treatment can help prevent or manage complications associated with this condition. Talk to your doctor about genetic testing for MASS syndrome and whether the NGS genetic DNA test from DNA Labs India is right for you.

At DNA Labs India, we are committed to providing accurate, reliable, and affordable genetic testing services to our customers. Contact us today to learn more about our NGS genetic DNA test for MASS syndrome and our other genetic testing services.