Short Description

NGS genetic DNA test detecets for variant and mutation detection in FBN1 gene for Weill-Marchesani syndrome, dominant type 2

PreTest Information

Clinical History of Patient who is going for FBN1 Gene Weill-Marchesani syndrome, dominant type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FBN1 Gene Weill-Marchesani syndrome, dominant type 2 NGS Genetic DNA Test gene FBN1

Detail Description

FBN1 Gene Weill-Marchesani Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Weill-Marchesani Syndrome (WMS) is a rare genetic disorder that affects connective tissues and can cause various eye and skeletal abnormalities. It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. This protein helps to form elastic fibers that provide strength and flexibility to connective tissues such as skin, cartilage, and blood vessels.

Symptoms of WMS

There are two types of WMS: type 1 and type 2. Both types have similar symptoms, but type 2 is caused by a specific mutation in the FBN1 gene. Some common symptoms of WMS include:

• Short stature
• Abnormalities in the eyes, such as microspherophakia (small, spherical lenses), glaucoma, and cataracts
• Abnormalities in the skeletal system, such as short fingers, scoliosis, and joint stiffness
• Heart problems, such as mitral valve prolapse

Diagnosis of WMS

WMS is diagnosed based on a combination of clinical features, family history, and genetic testing. A doctor may perform a physical examination to look for characteristic physical features, such as short stature and eye abnormalities. They may also order imaging tests, such as X-rays or echocardiograms, to look for skeletal or heart abnormalities.

To confirm a diagnosis of WMS, genetic testing may be performed. This involves analyzing a person's DNA to look for mutations in the FBN1 gene. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once, making it a useful tool for diagnosing rare genetic disorders like WMS.

NGS Genetic DNA Test Cost for WMS

The cost of an NGS genetic DNA test for WMS can vary depending on the testing provider and location. In India, the cost of an NGS genetic DNA test for WMS is typically around INR 20,000. However, it is important to note that this cost may be covered by insurance, and financial assistance may be available for those who cannot afford the test.

Conclusion

WMS is a rare genetic disorder caused by mutations in the FBN1 gene. It can cause various eye and skeletal abnormalities and is diagnosed based on a combination of clinical features, family history, and genetic testing. NGS genetic DNA testing can be a useful tool for diagnosing WMS, with a typical cost of around INR 20,000 in India. If you suspect that you or a loved one may have WMS, it is important to speak with a healthcare provider to discuss testing options and treatment options.

At DNA Labs India, we offer comprehensive genetic testing services, including NGS genetic DNA testing for WMS. Our team of experienced geneticists and counselors can help you understand your test results and make informed decisions about your health. Contact us today to learn more.