Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL2A1 gene for Platyspondylic skeletal dysplasia, Torrance type

PreTest Information

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

Detail Description

DNA Labs India | COL2A1 Gene Platyspondylic Skeletal Dysplasia, Torrance Type NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

DNA Labs India is proud to offer the COL2A1 Gene Platyspondylic Skeletal Dysplasia, Torrance Type NGS Genetic DNA Test. This test is designed to diagnose this rare genetic disorder that affects the development of bones and cartilage in the body. The test is available at a cost of INR 20,000.

What is COL2A1 Gene Platyspondylic Skeletal Dysplasia, Torrance Type?

COL2A1 Gene Platyspondylic Skeletal Dysplasia, Torrance Type is a rare genetic disorder that affects the development of bones and cartilage in the body. It is caused by mutations in the COL2A1 gene which provides instructions for making type II collagen, an important component of cartilage and bone. The disorder is characterized by short stature, a flattened vertebral column, and abnormal development of the pelvis and limbs.

Symptoms of COL2A1 Gene Platyspondylic Skeletal Dysplasia, Torrance Type

The symptoms of COL2A1 Gene Platyspondylic Skeletal Dysplasia, Torrance Type can vary greatly between individuals. Some common symptoms include:

• Short stature
• Flattened vertebral column
• Abnormal development of the pelvis and limbs
• Joint pain and stiffness
• Vision and hearing problems

Diagnosing COL2A1 Gene Platyspondylic Skeletal Dysplasia, Torrance Type

Diagnosing COL2A1 Gene Platyspondylic Skeletal Dysplasia, Torrance Type can be challenging due to its rarity. The NGS Genetic DNA Test offered by DNA Labs India is a highly accurate and reliable method for diagnosing the disorder. The test analyzes the COL2A1 gene to identify any mutations that may be present.

NGS Genetic DNA Test Cost

The cost of the NGS Genetic DNA Test for COL2A1 Gene Platyspondylic Skeletal Dysplasia, Torrance Type is INR 20,000.

Conclusion

If you or someone you know is experiencing symptoms of COL2A1 Gene Platyspondylic Skeletal Dysplasia, Torrance Type, it is important to seek medical attention. DNA Labs India offers a reliable and accurate NGS Genetic DNA Test for diagnosing this rare genetic disorder. Contact DNA Labs India today to schedule your test.