Short Description

NGS genetic DNA test detecets for variant and mutation detection in B4GALT1 gene for Glycosylation disorder type 2D

PreTest Information

Clinical History of Patient who is going for B4GALT1 Gene Glycosylation disorder type 2D NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycosylation disorder type 2D

Detail Description

B4GALT1 Gene Glycosylation Disorder Type 2D NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Have you been experiencing unusual symptoms such as developmental delay, seizures, and abnormal facial features? It could be a result of a genetic disorder known as B4GALT1 gene glycosylation disorder type 2D. It is a rare autosomal recessive disorder that affects the glycosylation process in the body.

Symptoms of B4GALT1 Gene Glycosylation Disorder Type 2D

The symptoms of B4GALT1 gene glycosylation disorder type 2D can vary from person to person. However, the most common symptoms include:

• Developmental delay
• Seizures
• Abnormal facial features, such as a small head, low-set ears, and a small jaw
• Abnormalities in the brain structure
• Difficulty in feeding and swallowing
• Failure to thrive

Diagnosis of B4GALT1 Gene Glycosylation Disorder Type 2D

The diagnosis of B4GALT1 gene glycosylation disorder type 2D is done through genetic testing. Next-generation sequencing (NGS) is a common method used for genetic testing. It involves sequencing a large number of DNA fragments simultaneously, making it a faster and more cost-effective method of genetic testing.

NGS Genetic DNA Test Cost INR: 20000

The cost of the NGS genetic DNA test for B4GALT1 gene glycosylation disorder type 2D in India is around INR 20000. However, the cost may vary depending on the testing facility and location.

Conclusion

B4GALT1 gene glycosylation disorder type 2D is a rare genetic disorder that affects the glycosylation process in the body. It can cause developmental delay, seizures, and abnormal facial features. Genetic testing using NGS is the most effective way to diagnose this disorder. The cost of NGS genetic DNA test for B4GALT1 gene glycosylation disorder type 2D in India is around INR 20000.

If you or your loved one is experiencing any of the symptoms mentioned above, it is essential to consult a genetic counselor or a healthcare professional for proper diagnosis and treatment.

At DNA Labs India, we offer a wide range of genetic tests, including NGS genetic DNA tests for various genetic disorders. Our team of experts uses the latest technology and equipment to ensure accurate and reliable results. Contact us today to schedule your genetic testing appointment.