Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL9A3 gene for Epiphyseal dysplasia, multiple, type 3

PreTest Information

Clinical History of Patient who is going for COL9A3 Gene Epiphyseal dysplasia, multiple, type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL9A3 Gene Epiphyseal dysplasia, multiple, type 3 NGS Genetic DNA Test gene COL9A3

Detail Description

COL9A3 Gene Epiphyseal Dysplasia, Multiple, Type 3 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

COL9A3 gene epiphyseal dysplasia, multiple, type 3 is a rare genetic disorder that affects the development of bones in the body. This disorder is caused by mutations in the COL9A3 gene that provides instructions for making a protein called collagen type IX alpha 3 chain. This protein is essential for the proper formation of cartilage and bone in the body.

Symptoms of COL9A3 Gene Epiphyseal Dysplasia, Multiple, Type 3

The symptoms of COL9A3 gene epiphyseal dysplasia, multiple, type 3 can vary widely from person to person. Some of the common symptoms include:

• Short stature
• Joint pain and stiffness
• Difficulty walking
• Abnormal curvature of the spine
• Early onset arthritis
• Flat feet
• Widening of the ends of the long bones in the legs and arms
• Delayed growth and development

Diagnosis of COL9A3 Gene Epiphyseal Dysplasia, Multiple, Type 3

Diagnosis of COL9A3 gene epiphyseal dysplasia, multiple, type 3 is done through a combination of physical examination, family history, and genetic testing. A doctor will examine the patient's joints, spine, and bones to look for characteristic signs of the disorder. They will also take a family history to determine if there is a history of the disorder in the family.

Genetic testing is the most definitive way to diagnose COL9A3 gene epiphyseal dysplasia, multiple, type 3. Next-generation sequencing (NGS) is a type of genetic test that can analyze multiple genes at the same time. NGS can detect mutations in the COL9A3 gene that cause the disorder.

NGS Genetic DNA Test Cost INR: 20000

The cost of an NGS genetic DNA test for COL9A3 gene epiphyseal dysplasia, multiple, type 3 in India is approximately INR 20,000. The cost may vary depending on the lab that performs the test and the specific type of NGS test used.

Conclusion

COL9A3 gene epiphyseal dysplasia, multiple, type 3 is a rare genetic disorder that affects bone and cartilage development. It can cause a wide range of symptoms, including joint pain, short stature, and abnormal curvature of the spine. Diagnosis is done through a combination of physical examination, family history, and genetic testing. NGS genetic DNA testing is a definitive way to diagnose the disorder, with a cost of approximately INR 20,000 in India.

If you suspect that you or a loved one may have COL9A3 gene epiphyseal dysplasia, multiple, type 3, it is important to speak with a healthcare professional for proper diagnosis and management of the disorder.