Short Description

NGS genetic DNA test detecets for variant and mutation detection in BMPR1B gene for Chrondrodysplasia, acromesomelic, with genital anomalies

PreTest Information

Clinical History of Patient who is going for BMPR1B Gene Chrondrodysplasia, acromesomelic, with genital anomalies NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with BMPR1B Gene Chrondrodysplasia, acromesomelic, with genital anomalies NGS Genetic DNA Test gene BMPR1B

Detail Description

BMPR1B Gene Chrondrodysplasia, Acromesomelic, with Genital Anomalies NGS Genetic DNA Test

Chondrodysplasia, Acromesomelic, with Genital Anomalies (CAMGA) is a rare genetic disorder that affects bone growth, resulting in short stature and abnormal development of the limbs and genitalia. It is caused by mutations in the BMPR1B gene, which provides instructions for making a protein that helps regulate bone growth and development.

Symptoms of CAMGA typically appear in infancy or early childhood and include:

• Short stature
• Shortened limbs, particularly the forearms and lower legs
• Abnormally shaped fingers and toes
• Abnormal development of the genitalia

Diagnosis of CAMGA typically involves a physical exam, X-rays, and genetic testing. Specifically, next-generation sequencing (NGS) genetic testing can be used to identify mutations in the BMPR1B gene that are associated with CAMGA.

NGS is a powerful tool that allows for the analysis of multiple genes or even entire genomes at once. It is particularly useful for identifying rare genetic disorders, like CAMGA, which may be caused by mutations in any one of a number of different genes.

At DNA Labs India, we offer NGS genetic testing for CAMGA at a cost of INR 20,000. Our test is highly accurate and reliable, and our team of genetic counselors and scientists is dedicated to providing you with the information and support you need to understand your results and make informed decisions about your health and the health of your family.

If you or a loved one is experiencing symptoms of CAMGA, or if you have a family history of the disorder, we encourage you to consider genetic testing. Early diagnosis and intervention can help manage symptoms and improve quality of life.

Contact DNA Labs India today to learn more about our NGS genetic testing for CAMGA, or to schedule a consultation with one of our genetic counselors.