Short Description

NGS genetic DNA test detecets for variant and mutation detection in CANT1 gene for Desbuquois dysplasia type 1

PreTest Information

Clinical History of Patient who is going for CANT1 Gene Desbuquois dysplasia type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CANT1 Gene Desbuquois dysplasia type 1 NGS Genetic DNA Test gene CANT1

Detail Description

CANT1 Gene Desbuquois Dysplasia Type 1 NGS Genetic DNA Test

Desbuquois dysplasia type 1 is a rare genetic disorder that affects bone growth and development. It is caused by mutations in the CANT1 gene, which provides instructions for making an enzyme that helps break down complex sugars in the body. When the CANT1 gene is mutated, the enzyme cannot function properly, leading to abnormal bone growth and development.

Symptoms of Desbuquois Dysplasia Type 1

Symptoms of Desbuquois dysplasia type 1 can vary widely in severity, but may include:

• Short stature
• Abnormal curvature of the spine (scoliosis)
• Joint stiffness and pain
• Abnormal bone growth and development
• Facial abnormalities
• Intellectual disability (in rare cases)

Diagnosis of Desbuquois Dysplasia Type 1

Diagnosis of Desbuquois dysplasia type 1 typically involves a physical exam, medical history review, and genetic testing. Genetic testing can confirm the presence of mutations in the CANT1 gene and help diagnose the condition.

CANT1 Gene Desbuquois Dysplasia Type 1 NGS Genetic DNA Test

The CANT1 gene Desbuquois dysplasia type 1 NGS genetic DNA test is a diagnostic test that can detect mutations in the CANT1 gene. The test uses next-generation sequencing (NGS) technology to analyze the entire CANT1 gene, providing highly accurate results.

The cost of the CANT1 gene Desbuquois dysplasia type 1 NGS genetic DNA test is INR 20,000 in India.

Benefits of the CANT1 Gene Desbuquois Dysplasia Type 1 NGS Genetic DNA Test

The CANT1 gene Desbuquois dysplasia type 1 NGS genetic DNA test offers several benefits:

• Highly accurate results
• Non-invasive testing (only a blood sample is required)
• Early diagnosis and treatment
• Allows for genetic counseling and family planning

Conclusion

Desbuquois dysplasia type 1 is a rare genetic disorder that can cause a range of symptoms, including short stature, joint stiffness and pain, abnormal bone growth and development, and facial abnormalities. The CANT1 gene Desbuquois dysplasia type 1 NGS genetic DNA test is a diagnostic test that can detect mutations in the CANT1 gene and help diagnose the condition. The test offers several benefits, including highly accurate results, non-invasive testing, and early diagnosis and treatment.

If you suspect that you or a loved one may have Desbuquois dysplasia type 1, talk to your doctor about the CANT1 gene Desbuquois dysplasia type 1 NGS genetic DNA test and whether it is right for you.