Short Description

NGS genetic DNA test detecets for variant and mutation detection in BMP1 gene for Osteogenesis imperfecta type 13

PreTest Information

Clinical History of Patient who is going for BMP1 Gene Osteogenesis imperfecta type 13 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with BMP1 Gene Osteogenesis imperfecta type 13 NGS Genetic DNA Test gene BMP1

Detail Description

BMP1 Gene Osteogenesis Imperfecta Type 13 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis - DNA Labs India

Introduction

Osteogenesis imperfecta (OI) is a genetic disorder characterized by fragile bones that are prone to fracture. The condition is caused by mutations in genes that are responsible for the production of collagen, a protein that gives structure and strength to bones. There are several types of OI, and one of them is OI type 13, which is caused by mutations in the BMP1 gene.

BMP1 Gene

The BMP1 gene provides instructions for making an enzyme called bone morphogenetic protein 1 (BMP1). This enzyme plays a critical role in the formation of bones and other tissues in the body. Mutations in the BMP1 gene can lead to the production of a faulty enzyme that disrupts the normal formation of bones, resulting in OI type 13.

Symptoms of OI Type 13

People with OI type 13 have bones that are extremely fragile and prone to fracture, even with minor trauma. They may also have blue sclera, which is a bluish tint in the whites of the eyes. Other symptoms may include hearing loss, dental problems, and skeletal abnormalities.

Diagnosis of OI Type 13

Diagnosis of OI type 13 can be done through genetic testing. DNA Labs India provides NGS Genetic DNA Test for OI type 13, which can detect mutations in the BMP1 gene. The test is done using a blood sample or a cheek swab, and results are usually available within 2-3 weeks.

NGS Genetic DNA Test Cost

The cost of the NGS Genetic DNA Test for OI type 13 at DNA Labs India is INR 20000.

Conclusion

Early diagnosis and treatment of OI type 13 is crucial for preventing complications and improving quality of life. If you suspect that you or a loved one may have OI type 13, consider getting tested at DNA Labs India. Our NGS Genetic DNA Test is accurate, reliable, and affordable.