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DPAGT1 Gene Glycosylation Disorder Type 1J Genetic Test

4,400 د.إ

-21%

The DPAGT1 gene glycosylation disorder type 1J genetic test is a specialized diagnostic tool offered by DNA Labs UAE, designed to identify mutations in the DPAGT1 gene. These mutations can lead to a rare condition known as Congenital Disorder of Glycosylation Type 1j (CDG-1j), which affects the normal process of glycosylation, an essential biological mechanism where sugar molecules are attached to proteins and lipids, impacting their stability and function. This disorder can present with a wide range of symptoms, including developmental delay, neurological issues, and problems with the digestive system, among others.

Given the complexity of CDG-1j and the importance of early diagnosis for managing the condition, the test provided by DNA Labs UAE is crucial for families with a history of the disorder or presenting symptoms. At a cost of 4400 AED, the test is conducted using advanced genetic sequencing techniques to ensure accuracy and reliability in detecting any mutations in the DPAGT1 gene. Results from this test can provide essential information for diagnosis, allowing healthcare providers to develop a tailored management and treatment plan for affected individuals.

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DPAGT1 Gene Glycosylation Disorder Type 1J Genetic Test

Welcome to DNA Labs UAE, where we offer the DPAGT1 Gene Glycosylation Disorder Type 1J Genetic Test. This test can help diagnose glycosylation disorder type 1J, a rare autosomal recessive disorder caused by mutations in the DPAGT1 gene.

Test Components

The DPAGT1 Gene Glycosylation Disorder Type 1J Genetic Test includes:

  • Sequencing the entire coding region of the DPAGT1 gene
  • Analysis of the results for any pathogenic variants

Price

The cost of the DPAGT1 Gene Glycosylation Disorder Type 1J Genetic Test is 4400.0 AED.

Sample Condition

We accept the following sample conditions for this test:

  • Blood
  • Extracted DNA
  • One drop of blood on FTA Card

Report Delivery

The report for the DPAGT1 Gene Glycosylation Disorder Type 1J Genetic Test will be delivered within 3 to 4 weeks.

Method

The test is performed using NGS (Next-Generation Sequencing) technology.

Test Type

The DPAGT1 Gene Glycosylation Disorder Type 1J Genetic Test is specifically designed for the diagnosis of neurological disorders.

Doctor

This test is recommended to be performed by a Neurologist.

Test Department

The DPAGT1 Gene Glycosylation Disorder Type 1J Genetic Test is conducted in our Genetics department.

Pre Test Information

Before undergoing the DPAGT1 Gene Glycosylation Disorder Type 1J Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by DPAGT1 Gene Glycosylation Disorder Type 1J.

Test Details

The DPAGT1 gene is responsible for encoding an enzyme called dolichyl-phosphate N-acetylglucosamine phosphotransferase. This enzyme plays a crucial role in the first step of protein glycosylation. Mutations in the DPAGT1 gene can result in a rare autosomal recessive disorder known as glycosylation disorder type 1J (CDG1J). This disorder affects the glycosylation of proteins, leading to various clinical features.

The DPAGT1 Gene Glycosylation Disorder Type 1J Genetic Test utilizes NGS genetic testing to detect mutations in the DPAGT1 gene. By sequencing the entire coding region of the gene and analyzing the results, pathogenic variants can be identified. The identification of DPAGT1 mutations can provide valuable information for genetic counseling, family planning, and potential treatment options for affected individuals.

Test Name DPAGT1 Gene Glycosylation disorder type 1J 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 DPAGT1 Gene Glycosylation disorder type 1J NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with DPAGT1 Gene Glycosylation disorder type 1J
Test Details

DPAGT1 gene encodes for an enzyme called dolichyl-phosphate N-acetylglucosamine phosphotransferase, which is involved in the first step of protein glycosylation. Mutations in this gene can lead to a rare autosomal recessive disorder called glycosylation disorder type 1J (also known as congenital disorder of glycosylation type 1J or CDG1J), which affects the glycosylation of proteins and leads to a range of clinical features.

NGS genetic testing can be used to detect mutations in the DPAGT1 gene, which can help diagnose glycosylation disorder type 1J. This test involves sequencing the entire coding region of the gene and analyzing the results for any pathogenic variants. Identification of DPAGT1 mutations can aid in genetic counseling and family planning, as well as provide insight into potential treatment options for affected individuals.