Short Description

NGS genetic DNA test detecets for variant and mutation detection in MMP13 gene for Metaphyseal anadysplasia type 1

PreTest Information

Clinical History of Patient who is going for MMP13 Gene Metaphyseal anadysplasia type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MMP13 Gene Metaphyseal anadysplasia type 1 NGS Genetic DNA Test gene MMP13

Detail Description

MMP13 Gene Metaphyseal Anadysplasia Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Metaphyseal anadysplasia type 1 (MMA1) is a rare genetic disorder that affects the development of bones, particularly in the long bones of the arms and legs. MMA1 is caused by mutations in the MMP13 gene, which provides instructions for making an enzyme called matrix metallopeptidase 13. This enzyme is important for the breakdown and remodeling of bone tissue.

NGS (Next Generation Sequencing) Genetic DNA testing can be used to identify mutations in the MMP13 gene that cause MMA1. The cost of this test in India is typically around INR 20000.

Symptoms of MMA1

The symptoms of MMA1 can vary widely from person to person, even among members of the same family. Some common symptoms include:

• Short stature
• Bowed legs
• Widening of the long bones in the arms and legs
• Joint pain and stiffness
• Abnormal curvature of the spine
• Delayed motor development

These symptoms usually become apparent in early childhood, although they can sometimes be detected in utero during prenatal ultrasound examinations.

Diagnosis of MMA1

The diagnosis of MMA1 is typically made based on a combination of clinical features, radiographic findings, and genetic testing. X-rays of the affected bones can show characteristic changes, such as irregularity and thickening of the metaphyses (the wider parts of the bone near the joints). Genetic testing can confirm the presence of mutations in the MMP13 gene.

Conclusion

MMA1 is a rare genetic disorder that can have significant effects on a person's skeletal development. NGS Genetic DNA testing can be used to identify mutations in the MMP13 gene that cause MMA1, with a cost of around INR 20000 in India. Early diagnosis and management of MMA1 can help to minimize complications and improve outcomes for affected individuals.

At DNA Labs India, we offer a range of genetic testing services, including NGS Genetic DNA testing for MMA1. Contact us today to learn more about our services and how we can help you.