Short Description

NGS genetic DNA test detecets for variant and mutation detection in LTBP2 gene for Weill-Marchesani syndrome type 3

PreTest Information

Clinical History of Patient who is going for LTBP2 Gene Weill-Marchesani syndrome type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LTBP2 Gene Weill-Marchesani syndrome type 3 NGS Genetic DNA Test gene LTBP2

Detail Description

LTBP2 Gene Weill-Marchesani Syndrome Type 3: NGS Genetic DNA Test Cost INR 20,000 - Symptoms & Diagnosis

Weill-Marchesani Syndrome (WMS) is a rare genetic disorder that affects connective tissues in the body. It is caused by mutations in the LTBP2 gene, which encodes a protein that is essential for the formation of extracellular matrix (ECM) in various tissues. WMS is characterized by distinctive physical features such as short stature, brachydactyly (short fingers), and microspherophakia (small, spherical lens in the eye).

Symptoms of Weill-Marchesani Syndrome Type 3

The symptoms of Weill-Marchesani Syndrome Type 3 (WMS3) are similar to other types of WMS, but with additional features such as:

• Glaucoma
• Cataracts
• High myopia (nearsightedness)
• Retinal detachment
• Joint stiffness

Individuals with WMS3 may also experience dental abnormalities, such as small teeth and delayed eruption.

Diagnosis of Weill-Marchesani Syndrome Type 3

WMS3 can be diagnosed through genetic testing, specifically Next-Generation Sequencing (NGS) of the LTBP2 gene. NGS is a high-throughput method that allows for the sequencing of multiple genes simultaneously, providing a comprehensive view of the individual's genetic makeup. This test can be performed on a blood or saliva sample.

The cost of the NGS Genetic DNA Test for WMS3 at DNA Labs India is INR 20,000. The test results are usually available within 2-4 weeks.

Conclusion

Weill-Marchesani Syndrome Type 3 is a rare genetic disorder that affects connective tissues in the body. It is caused by mutations in the LTBP2 gene and is characterized by short stature, brachydactyly, microspherophakia, glaucoma, cataracts, high myopia, retinal detachment, and joint stiffness. The disorder can be diagnosed through genetic testing, specifically Next-Generation Sequencing of the LTBP2 gene, which is available at DNA Labs India for INR 20,000.

Early diagnosis of WMS3 can help in the management of symptoms and prevent complications such as vision loss and joint problems. If you or your loved one is experiencing any of the symptoms mentioned above, it is recommended to consult a healthcare professional for further evaluation and testing.

For more information on genetic testing and other DNA-related services, please visit the DNA Labs India website.