Short Description

NGS genetic DNA test detecets for variant and mutation detection in CRTAP gene for Osteogenesis imperfecta type 7

PreTest Information

Clinical History of Patient who is going for CRTAP Gene Osteogenesis imperfecta type 7 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CRTAP Gene Osteogenesis imperfecta type 7 NGS Genetic DNA Test gene CRTAP

Detail Description

CRTAP Gene and Osteogenesis Imperfecta Type 7

Osteogenesis Imperfecta (OI) is a genetic disorder that results in fragile bones that break easily. There are multiple types of OI, and each one is caused by a different gene mutation. OI type 7 is caused by mutations in the CRTAP gene.

Symptoms of OI Type 7

People with OI type 7 often have severe bone fragility, which can lead to frequent fractures and deformities. Other common symptoms include:

• Short stature
• Scoliosis
• Brittle teeth
• Hearing loss

It's important to note that the severity of symptoms can vary widely between individuals with OI type 7.

Diagnosing OI Type 7

Diagnosing OI type 7 typically involves a combination of clinical evaluation and genetic testing. A doctor may perform a physical exam, take X-rays, and review medical history to help diagnose the condition. Genetic testing, such as next-generation sequencing (NGS), can confirm the presence of a CRTAP gene mutation.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for OI type 7 can vary depending on the provider. At DNA Labs India, we offer NGS testing for a range of genetic disorders, including OI type 7, at a cost of INR 20,000.

Conclusion

OI type 7 is a rare genetic disorder caused by mutations in the CRTAP gene. Symptoms can vary widely between individuals, but often include severe bone fragility and deformities. Diagnosing OI type 7 typically involves a combination of clinical evaluation and genetic testing, such as NGS. If you suspect that you or a loved one may have OI type 7, contact DNA Labs India to learn more about testing options.