Short Description

NGS genetic DNA test detecets for variant and mutation detection in MMP9 gene for Metaphyseal anadysplasia type 2

PreTest Information

Clinical History of Patient who is going for MMP9 Gene Metaphyseal anadysplasia type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MMP9 Gene Metaphyseal anadysplasia type 2 NGS Genetic DNA Test gene MMP9

Detail Description

MMP9 Gene Metaphyseal Anadysplasia Type 2 NGS Genetic DNA Test

Metaphyseal anadysplasia type 2 (MMA2) is a rare genetic disorder that affects the skeletal system, causing abnormalities in bone growth and development. It is caused by mutations in the MMP9 gene, which provides instructions for making an enzyme called matrix metalloproteinase-9. This enzyme is involved in breaking down the extracellular matrix that surrounds cells and tissues, and plays a role in bone development and remodeling.

Symptoms of MMA2

Individuals with MMA2 typically have short stature and bowed legs. They may also experience pain and joint stiffness, as well as an increased risk of fractures. Other symptoms may include abnormal curvature of the spine (scoliosis), a flattened or misshapen chest, and hearing loss.

Diagnosis of MMA2

MMA2 can be diagnosed through genetic testing, which looks for mutations in the MMP9 gene. This can be done through a technique called next-generation sequencing (NGS), which allows for the analysis of multiple genes at once. A blood or saliva sample is typically required for testing.

The Cost of NGS Genetic DNA Test for MMA2

The cost of NGS genetic DNA test for MMA2 varies depending on the laboratory performing the test and the location. In India, DNA Labs India offers NGS genetic DNA testing for MMA2 at a cost of INR 20,000. This includes the cost of sample collection, testing, and interpretation of results.

Why Get Tested?

If you or a loved one is experiencing symptoms of MMA2, genetic testing can provide a definitive diagnosis and help guide treatment and management of the condition. It can also provide important information for family planning and genetic counseling.

Conclusion

MMA2 is a rare genetic disorder that affects bone development and growth. Genetic testing through NGS can provide a definitive diagnosis and guide treatment and management of the condition. DNA Labs India offers NGS genetic DNA testing for MMA2 at a cost of INR 20,000, providing a reliable and affordable option for those seeking genetic testing.

If you suspect you or a loved one may have MMA2 or have questions about genetic testing, contact DNA Labs India today for more information.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for MMP9 Gene Metaphyseal anadysplasia type 2 NGS Genetic DNA Test