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. |
