Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL2A1 gene for Kniest dysplasia

PreTest Information

Clinical History of Patient who is going for COL2A1 Gene Kniest dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL2A1 Gene Kniest dysplasia NGS Genetic DNA Test gene COL2A1

Detail Description

Understanding the COL2A1 Gene, Kniest Dysplasia, NGS Genetic DNA Test Cost and Symptoms Diagnosis

Genetic testing has become an essential tool in identifying inherited diseases. One such genetic disorder is Kniest dysplasia, which affects the growth and development of bones. The COL2A1 gene is responsible for producing collagen, which is a vital component of bone and cartilage development. Mutations in this gene can lead to Kniest dysplasia, a rare genetic disorder that affects approximately 1 in 100,000 people worldwide.

What is Kniest Dysplasia?

Kniest dysplasia is a rare genetic disorder that affects the growth and development of bones. It is characterized by short stature, joint pain, and a variety of skeletal abnormalities, including a flattened midface, a cleft palate, and a small chest. The condition is caused by mutations in the COL2A1 gene, which codes for the production of type II collagen.

NGS Genetic DNA Test Cost

Next-generation sequencing (NGS) is a modern technology used for genetic testing that can identify mutations in the COL2A1 gene. The cost of an NGS genetic DNA test in India for Kniest dysplasia is approximately INR 20,000. However, it is important to note that the cost may vary depending on the laboratory and the type of test performed.

Symptoms of Kniest Dysplasia

The symptoms of Kniest dysplasia can vary from person to person, but some of the most common symptoms include:

• Short stature
• Joint pain
• Skeletal abnormalities
• Flattened midface
• Cleft palate
• Small chest

It is important to note that these symptoms may not appear until later in childhood or adolescence.

Diagnosis of Kniest Dysplasia

Kniest dysplasia can be diagnosed through genetic testing, such as NGS genetic DNA testing. Additionally, imaging tests, such as X-rays and MRIs, can be used to evaluate bone and joint abnormalities. If Kniest dysplasia is suspected, it is important to consult with a genetic counselor or medical professional to discuss testing options and potential treatment options.

Conclusion

Kniest dysplasia is a rare genetic disorder that affects the growth and development of bones. Next-generation sequencing genetic DNA testing can be used to identify mutations in the COL2A1 gene, which is responsible for producing collagen. The cost of an NGS genetic DNA test for Kniest dysplasia in India is approximately INR 20,000. If you suspect that you or a loved one may have Kniest dysplasia, it is important to consult with a medical professional to discuss testing options and potential treatment options.