Short Description

NGS genetic DNA test detecets for variant and mutation detection in B3GAT3 gene for Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects

PreTest Information

Clinical History of Patient who is going for B3GAT3 Gene Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with B3GAT3 Gene Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects NGS Genetic DNA Test gene B3GAT3

Detail Description

B3GAT3 Gene Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects are some of the symptoms of B3GAT3 gene mutations. B3GAT3 gene mutations are rare genetic disorders that affect the development of various organs and tissues in the body. The condition is inherited in an autosomal recessive pattern, which means that both parents must carry the mutated gene for their child to be affected.

Symptoms of B3GAT3 Gene Mutations

B3GAT3 gene mutations can cause a wide range of symptoms, including:

• Multiple joint dislocations
• Short stature
• Craniofacial dysmorphism
• Congenital heart defects
• Abnormalities in the skeleton
• Eye abnormalities
• Intellectual disability

Diagnosis of B3GAT3 Gene Mutations

B3GAT3 gene mutations are diagnosed through genetic testing. Next-generation sequencing (NGS) genetic DNA testing is the most reliable and accurate method of detecting B3GAT3 gene mutations. NGS is a high-throughput sequencing technology that can sequence millions of DNA strands simultaneously, allowing for the detection of even rare mutations.

Cost of B3GAT3 Gene NGS Genetic DNA Test

The cost of B3GAT3 gene NGS genetic DNA test in India is INR 20000. The test is available at DNA Labs India, a leading provider of genetic testing services in India.

Conclusion

B3GAT3 gene mutations can cause a wide range of symptoms, including multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects. The condition is diagnosed through genetic testing, and NGS genetic DNA testing is the most reliable and accurate method of detecting B3GAT3 gene mutations. If you suspect that you or your child may have B3GAT3 gene mutations, it is important to consult with a genetic counselor or healthcare provider to discuss testing options.

At DNA Labs India, we offer a comprehensive range of genetic testing services, including NGS genetic DNA testing for B3GAT3 gene mutations. Our team of experienced genetic counselors and healthcare professionals is dedicated to providing personalized care and support to every patient. Contact us today to learn more about our services and how we can help you.