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B4GALT1 Gene Glycosylation Disorder Type 2D Genetic Test

4,400 د.إ

-21%

The B4GALT1 Gene Glycosylation Disorder Type 2D Genetic Test is a specialized diagnostic procedure aimed at identifying mutations in the B4GALT1 gene, which are associated with Congenital Disorders of Glycosylation (CDG). CDG Type 2D is a rare genetic condition that affects the body’s ability to properly glycosylate proteins and lipids, crucial processes for normal cellular function. This disorder can lead to a wide range of symptoms, including developmental delay, neurological issues, and problems with the digestive system, among others.

The test involves collecting a DNA sample, usually through a blood draw, which is then analyzed in a laboratory setting to detect any genetic anomalies in the B4GALT1 gene. This specific testing is available at DNA Labs UAE, a leading provider of genetic testing services in the United Arab Emirates, known for its state-of-the-art facilities and expertise in genetic diagnostics.

The cost of the B4GALT1 Gene Glycosylation Disorder Type 2D Genetic Test at DNA Labs UAE is 4400 AED. This price reflects the comprehensive nature of the test, including the advanced technology and professional expertise required to accurately identify mutations in the B4GALT1 gene. For families and individuals facing the possibility of CDG Type 2D, this test offers a crucial step towards obtaining a definitive diagnosis, which is essential for managing the condition and improving quality of life.

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  • This test is not intended for medical diagnosis or treatment
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B4GALT1 Gene Glycosylation Disorder Type 2D Genetic Test

Components

Price: 4400.0 AED

Sample Condition

Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery

3 to 4 Weeks

Method

NGS Technology

Test Type

Neurological Disorders

Doctor

Neurologist

Test Department

Genetics

Pre Test 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

Test Details

The B4GALT1 gene is responsible for producing an enzyme called beta-1,4-galactosyltransferase 1, which is involved in the process of glycosylation. Glycosylation is the addition of sugar molecules to proteins and lipids, which is essential for proper functioning of many biological processes.

Glycosylation Disorder Type 2D is a rare genetic disorder that is caused by mutations in the B4GALT1 gene. This disorder affects the glycosylation process, leading to a range of symptoms including developmental delay, intellectual disability, seizures, and abnormalities in the structure and function of various organs and tissues.

NGS genetic testing is a method of analyzing DNA sequences to identify mutations in specific genes, including B4GALT1. This type of testing can be used to diagnose glycosylation disorder type 2D and other genetic disorders, as well as to identify carriers of these mutations.

If a mutation is identified in the B4GALT1 gene, genetic counseling may be recommended to discuss the implications of the diagnosis and potential treatment options. Treatment for glycosylation disorder type 2D may include management of symptoms and supportive care, as there is currently no cure for this disorder.

Test Name B4GALT1 Gene Glycosylation disorder type 2D Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
Test Department: Genetics
Pre Test 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
Test Details

The B4GALT1 gene is responsible for producing an enzyme called beta-1,4-galactosyltransferase 1, which is involved in the process of glycosylation. Glycosylation is the addition of sugar molecules to proteins and lipids, which is essential for proper functioning of many biological processes.

Glycosylation disorder type 2D is a rare genetic disorder that is caused by mutations in the B4GALT1 gene. This disorder affects the glycosylation process, leading to a range of symptoms including developmental delay, intellectual disability, seizures, and abnormalities in the structure and function of various organs and tissues.

NGS genetic testing is a method of analyzing DNA sequences to identify mutations in specific genes, including B4GALT1. This type of testing can be used to diagnose glycosylation disorder type 2D and other genetic disorders, as well as to identify carriers of these mutations.

If a mutation is identified in the B4GALT1 gene, genetic counseling may be recommended to discuss the implications of the diagnosis and potential treatment options. Treatment for glycosylation disorder type 2D may include management of symptoms and supportive care, as there is currently no cure for this disorder.