Short Description

NGS genetic DNA test detecets for variant and mutation detection in XYLT1 gene for Desbuquois dysplasia type 2

PreTest Information

Clinical History of Patient who is going for XYLT1 Gene Desbuquois dysplasia type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with XYLT1 Gene Desbuquois dysplasia type 2 NGS Genetic DNA Test gene XYLT1

Detail Description

XYLT1 Gene Desbuquois Dysplasia Type 2 NGS Genetic DNA Test

Desbuquois Dysplasia Type 2 is a rare genetic disorder that affects bone growth. It is caused by mutations in the XYLT1 gene, which provides instructions for making an enzyme called xylosyltransferase 1. This enzyme is essential for the formation of certain molecules that help build bones and cartilage.

Symptoms of Desbuquois Dysplasia Type 2

The symptoms of Desbuquois Dysplasia Type 2 vary widely. Some people may have mild symptoms while others may have severe symptoms. Common symptoms include:

• Short stature
• Joint pain and stiffness
• Abnormal curvature of the spine
• Abnormalities in the hands and feet
• Facial abnormalities

Other symptoms may include hearing loss, respiratory problems, and heart defects.

Diagnosis of Desbuquois Dysplasia Type 2

Diagnosis of Desbuquois Dysplasia Type 2 is usually done through a physical examination, X-rays, and genetic testing. X-rays can show abnormalities in the bones and joints, while genetic testing can identify mutations in the XYLT1 gene.

NGS Genetic DNA Test for XYLT1 Gene Desbuquois Dysplasia Type 2

Next-generation sequencing (NGS) is a powerful genetic testing technology that can identify mutations in the XYLT1 gene. This test can be done using a small sample of blood or saliva.

The cost of the NGS Genetic DNA Test for XYLT1 Gene Desbuquois Dysplasia Type 2 in India is INR 20,000.

Conclusion

Desbuquois Dysplasia Type 2 is a rare genetic disorder that affects bone growth. It is caused by mutations in the XYLT1 gene, which can be identified through genetic testing. The NGS Genetic DNA Test for XYLT1 Gene Desbuquois Dysplasia Type 2 is a powerful tool for diagnosing this condition. If you suspect that you or a loved one may have this condition, speak to a genetic counselor or healthcare provider to learn more about testing options.

For more information on genetic testing and DNA analysis, contact DNA Labs India.