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 B4GALT1 Gene Glycosylation disorder type 2D

Detail Description

B4GALT1 Gene Glycosylation Disorder Type 2D NGS Genetic DNA Test - DNA Labs India

B4GALT1 gene glycosylation disorder type 2D is a rare genetic disorder that affects the body's ability to produce certain types of proteins and sugars. This disorder is caused by mutations in the B4GALT1 gene, which provides instructions for making an enzyme called beta-1,4-galactosyltransferase 1. This enzyme is essential for the production of complex sugars that are found on the surface of cells and proteins throughout the body.

Symptoms of B4GALT1 Gene Glycosylation Disorder Type 2D

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

• Developmental delays
• Intellectual disability
• Seizures
• Abnormal muscle tone
• Abnormal eye movements
• Organ dysfunction

These symptoms can be mild or severe, and they may appear at any time during childhood or adulthood.

Diagnosis of B4GALT1 Gene Glycosylation Disorder Type 2D

The diagnosis of B4GALT1 gene glycosylation disorder type 2D is typically made through genetic testing. This involves analyzing a sample of the patient's DNA to look for mutations in the B4GALT1 gene. Other tests, such as MRI scans and blood tests, may also be used to evaluate the patient's symptoms and determine the extent of the disorder.

NGS Genetic DNA Test for B4GALT1 Gene Glycosylation Disorder Type 2D at DNA Labs India

DNA Labs India offers a comprehensive NGS genetic DNA test for B4GALT1 gene glycosylation disorder type 2D. This test uses the latest Next-Generation Sequencing (NGS) technology to analyze the patient's DNA and identify any mutations in the B4GALT1 gene. The test is highly accurate and can detect even rare genetic variations that may be missed by other testing methods.

Cost of NGS Genetic DNA Test for B4GALT1 Gene Glycosylation Disorder Type 2D at DNA Labs India

The cost of the NGS genetic DNA test for B4GALT1 gene glycosylation disorder type 2D at DNA Labs India is INR 20,000. This includes the cost of the test itself as well as any necessary consultations with our genetic counselors.

If you suspect that you or a loved one may have B4GALT1 gene glycosylation disorder type 2D, don't hesitate to contact DNA Labs India to learn more about our NGS genetic DNA test. Our team of experts is here to help you get the answers you need.