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B4GALT1 Gene Glycosylation Disorder Type 2D Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The B4GALT1 gene glycosylation disorder, also known as type 2D, is a rare genetic condition that affects the body’s ability to properly glycosylate proteins and lipids, which are crucial processes for normal cellular function. This disorder can lead to a wide range of symptoms, including developmental delays, neurological issues, and other systemic complications. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the faulty gene, one from each parent, to be affected.

To diagnose this condition, a specific genetic test is available at DNA Labs UAE, which focuses on identifying mutations in the B4GALT1 gene. This test is crucial for confirming the diagnosis, allowing for appropriate management and treatment plans to be established for affected individuals. The test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed for the presence of mutations in the B4GALT1 gene.

The cost of the B4GALT1 gene glycosylation disorder type 2D genetic test at DNA Labs UAE is 4400 AED. While the test price may seem high, it is a critical step in the diagnosis and management of this rare condition, providing essential information for healthcare providers, patients, and their families. Early diagnosis through genetic testing can significantly impact the quality of life for those affected by offering targeted treatments and interventions.

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B4GALT1 Gene Glycosylation Disorder Type 2D Genetic Test

Welcome to DNA Labs UAE, where we offer the B4GALT1 Gene Glycosylation Disorder Type 2D Genetic Test. This test is designed to identify mutations or variations in the B4GALT1 gene that may be causing the disorder.

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

Metabolic Disorders

Doctor

General Physician

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 Glycosylation Disorder Type 2D.

Test Details

The B4GALT1 gene is responsible for encoding an enzyme called beta-1,4-galactosyltransferase, which plays a crucial role in the process of glycosylation. Glycosylation is the attachment of sugar molecules to proteins and lipids, and it is essential for the proper functioning of many biological processes.

A mutation in the B4GALT1 gene can lead to a glycosylation disorder known as type 2D, also called congenital disorder of glycosylation type 2D (CDG2D). This disorder is characterized by a range of symptoms that can vary in severity, including developmental delays, intellectual disability, seizures, abnormal facial features, skeletal abnormalities, and other organ system involvement.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of an individual. In the context of B4GALT1 gene glycosylation disorder type 2D, NGS genetic testing can be performed to identify any mutations or variations in the B4GALT1 gene that may be causing the disorder.

NGS genetic testing involves sequencing the DNA of the individual using advanced sequencing technologies. This allows for the simultaneous analysis of multiple genes, including the B4GALT1 gene, in a single test. The test can detect various types of genetic alterations, such as single nucleotide variants (SNVs), insertions, deletions, and other structural variations.

By identifying specific mutations or variations in the B4GALT1 gene, NGS genetic testing can provide a definitive diagnosis for individuals suspected of having type 2D glycosylation disorder. This information can help guide medical management and treatment decisions, as well as provide important information for genetic counseling and family planning.

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
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Metabolic Disorders
Doctor General Physician
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 Glycosylation disorder type 2D
Test Details

The B4GALT1 gene is responsible for encoding an enzyme called beta-1,4-galactosyltransferase, which plays a crucial role in the process of glycosylation. Glycosylation is the attachment of sugar molecules to proteins and lipids, and it is essential for the proper functioning of many biological processes.

A mutation in the B4GALT1 gene can lead to a glycosylation disorder known as type 2D, also called congenital disorder of glycosylation type 2D (CDG2D). This disorder is characterized by a range of symptoms that can vary in severity, including developmental delays, intellectual disability, seizures, abnormal facial features, skeletal abnormalities, and other organ system involvement.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of an individual. In the context of B4GALT1 gene glycosylation disorder type 2D, NGS genetic testing can be performed to identify any mutations or variations in the B4GALT1 gene that may be causing the disorder.

NGS genetic testing involves sequencing the DNA of the individual using advanced sequencing technologies. This allows for the simultaneous analysis of multiple genes, including the B4GALT1 gene, in a single test. The test can detect various types of genetic alterations, such as single nucleotide variants (SNVs), insertions, deletions, and other structural variations.

By identifying specific mutations or variations in the B4GALT1 gene, NGS genetic testing can provide a definitive diagnosis for individuals suspected of having type 2D glycosylation disorder. This information can help guide medical management and treatment decisions, as well as provide important information for genetic counseling and family planning.

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