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

FBN1 Gene MASS Syndrome NGS Genetic DNA Test Cost INR 20,000 Symptoms Diagnosis

MASS syndrome is a genetic disorder that affects the connective tissues of the body. It is caused by mutations in the FBN1 gene. This gene provides instructions for making a protein called fibrillin-1, which is essential for the proper formation of connective tissues.

Connective tissues are found throughout the body, including in the bones, tendons, ligaments, skin, and blood vessels. In individuals with MASS syndrome, the mutations in the FBN1 gene can cause various abnormalities in these tissues, leading to a range of symptoms and health problems.

Symptoms of MASS Syndrome

The symptoms of MASS syndrome can vary widely from person to person, even among individuals with the same genetic mutation. Some common symptoms of MASS syndrome include:

• Tall stature
• Long limbs and fingers
• Scoliosis
• Flat feet
• Nearsightedness
• Enlarged aorta
• Joint pain and stiffness

MASS syndrome can also increase the risk of developing other health problems, such as:

• Aortic aneurysm
• Dislocation of the lens in the eye
• Early-onset osteoarthritis
• Varicose veins
• Hernias

Diagnosis of MASS Syndrome

MASS syndrome is diagnosed through genetic testing. Specifically, a Next Generation Sequencing (NGS) Genetic DNA test can analyze the FBN1 gene for mutations. This test can detect mutations in the FBN1 gene that are associated with MASS syndrome.

If a mutation is detected, a genetic counselor or healthcare provider can discuss the implications of the diagnosis with the patient and their family members. They can also recommend appropriate medical management and surveillance to monitor for any potential complications.

Cost of FBN1 Gene MASS Syndrome NGS Genetic DNA Test

The cost of the FBN1 Gene MASS Syndrome NGS Genetic DNA Test in India is approximately INR 20,000. This cost may vary depending on the testing facility and any additional services that may be required.

Conclusion

MASS syndrome is a genetic disorder that can cause a range of symptoms and health problems. Early diagnosis through genetic testing can help individuals and their healthcare providers manage the condition and monitor for potential complications. The FBN1 Gene MASS Syndrome NGS Genetic DNA Test is available in India for approximately INR 20,000.

If you suspect that you or a loved one may have MASS syndrome, it is important to speak with a healthcare provider or genetic counselor about genetic testing and appropriate medical management.

Contact DNA Labs India for more information on genetic testing for MASS syndrome and other genetic disorders.

MASS syndrome, also known as MASS phenotype, is a genetic condition that stands for Mitral Valve Prolapse, Aortic Enlargement, Skin and Skeletal findings. It shares some clinical features with Marfan syndrome, but it is considered a milder and less severe condition. It's important to note that MASS syndrome is not caused by mutations in the FBN1 gene, which is typically associated with Marfan syndrome.

Instead, MASS syndrome is associated with mutations in the TGFBR1 and TGFBR2 genes, which are involved in the signaling pathway of transforming growth factor beta (TGF-β). This pathway plays a role in the regulation of cell growth, differentiation, and other cellular processes.

An NGS (Next-Generation Sequencing) genetic DNA test for the TGFBR1 and TGFBR2 genes involves sequencing the DNA to identify any mutations or variations within these genes that are associated with MASS syndrome. This testing can help diagnose the condition and identify individuals who carry mutations in the TGFBR1 and TGFBR2 genes.

If you suspect that you or someone you know may have MASS syndrome or if there's a family history of the condition, it's important to consult with a geneticist, cardiologist, or medical specialist familiar with connective tissue disorders. They can guide you through the genetic testing process, interpret the results, and provide appropriate recommendations for management and treatment based on the specific genetic findings.