Short Description

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

PreTest Information

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

Detail Description

COL2A1 Gene Spondyloperipheral Dysplasia NGS Genetic DNA Test

Spondyloperipheral dysplasia (SPD) is a rare genetic disorder that affects the skeletal system. It is caused by mutations in the COL2A1 gene, which provides instructions for making type II collagen. This protein is a major component of cartilage and other connective tissues in the body.

Symptoms of SPD

SPD is characterized by short stature, abnormal curvature of the spine, and malformations of the limbs. Other symptoms may include:

• Abnormal curvature of the fingers
• Clubfoot
• Flat feet
• Hearing loss
• Joint pain and stiffness
• Joint laxity
• Short fingers and toes

Diagnosis of SPD

SPD is diagnosed through a combination of physical exams, imaging tests, and genetic testing. X-rays and MRI scans can show abnormalities in the bones and joints, while genetic testing can identify mutations in the COL2A1 gene.

COL2A1 Gene Spondyloperipheral Dysplasia NGS Genetic DNA Test

The COL2A1 gene spondyloperipheral dysplasia NGS genetic DNA test is a genetic test that can identify mutations in the COL2A1 gene. This test uses next-generation sequencing (NGS) technology to analyze the DNA sequence of the gene and detect any variations that may be associated with SPD.

Cost of the Test

The cost of the COL2A1 gene spondyloperipheral dysplasia NGS genetic DNA test is INR 20,000.

Benefits of the Test

The benefits of the COL2A1 gene spondyloperipheral dysplasia NGS genetic DNA test include:

• Early diagnosis of SPD
• Identification of carriers of the mutation
• Accurate genetic counseling for affected individuals and their families

Conclusion

The COL2A1 gene spondyloperipheral dysplasia NGS genetic DNA test is a valuable tool for the diagnosis and management of SPD. It can provide early detection and accurate genetic counseling for affected individuals and their families. With a cost of INR 20,000, this test is an affordable and effective option for those who may be at risk for SPD.

Contact DNA Labs India today to learn more about the COL2A1 gene spondyloperipheral dysplasia NGS genetic DNA test and how it can benefit you.