Short Description

NGS genetic DNA test detecets for variant and mutation detection in FGFR1 gene for Osteoglophonic dysplasia

PreTest Information

Clinical History of Patient who is going for FGFR1 Gene Osteoglophonic dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FGFR1 Gene Osteoglophonic dysplasia NGS Genetic DNA Test gene FGFR1

Detail Description

FGFR1 Gene Osteoglophonic Dysplasia NGS Genetic DNA Test Cost

Osteoglophonic dysplasia is a rare genetic disorder that affects bone development. It is caused by mutations in the FGFR1 gene, which provides instructions for making a protein that is involved in the growth and development of bones. This disorder is characterized by abnormal bone growth and development, particularly in the skull and facial bones. It can also affect other bones in the body, such as the hands and feet.

Symptoms of Osteoglophonic Dysplasia

The symptoms of osteoglophonic dysplasia can vary greatly from person to person, but may include:

• Abnormal bone growth in the skull and facial bones
• Widely spaced eyes
• Underdeveloped cheekbones
• Abnormal curvature of the spine
• Short stature
• Abnormal bone growth in the hands and feet
• Intellectual disability

Diagnosis of Osteoglophonic Dysplasia

Osteoglophonic dysplasia is diagnosed based on the symptoms and physical examination of the patient. Genetic testing can also be done to confirm the diagnosis. This involves analyzing a sample of the patient's DNA to look for mutations in the FGFR1 gene.

NGS Genetic DNA Test Cost for Osteoglophonic Dysplasia

The cost of NGS Genetic DNA Test for Osteoglophonic Dysplasia at DNA Labs India is INR 20000. This test uses next-generation sequencing technology to analyze the patient's DNA and look for mutations in the FGFR1 gene. It is a highly accurate and reliable test that can help diagnose this rare genetic disorder.

If you or someone you know is experiencing symptoms of osteoglophonic dysplasia, it is important to seek medical attention and get a proper diagnosis. Contact DNA Labs India to learn more about NGS Genetic DNA Test for Osteoglophonic Dysplasia and how it can help diagnose this rare genetic disorder.