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DPM1 Gene Glycosylation Disorder Type 1E Genetic Test

4,400 د.إ

-21%

The DPM1 Gene Glycosylation Disorder Type 1E Genetic Test is a specialized diagnostic tool available at DNA Labs UAE, designed to detect mutations in the DPM1 gene, which are linked to Congenital Disorders of Glycosylation Type 1E (CDG-1E). These disorders are a group of rare genetic conditions that affect the normal process of glycosylation, the addition of sugars to proteins, which is crucial for proper protein function and cellular operations.

CDG-1E is characterized by a wide range of symptoms, including developmental delay, neurological issues, and abnormalities in organ function, stemming from the body’s inability to properly attach sugar molecules to proteins. Early and accurate diagnosis through genetic testing is essential for managing symptoms and improving the quality of life for affected individuals.

The test at DNA Labs UAE involves collecting a DNA sample, typically through a blood draw, and analyzing it for specific mutations in the DPM1 gene that are indicative of CDG-1E. The cost for this comprehensive genetic test is 4400 AED. Given the complexity and rarity of the condition, having access to this test represents a critical step towards personalized care and management for patients with suspected CDG-1E, offering families hope and direction in navigating this challenging condition.

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DPM1 Gene Glycosylation Disorder Type 1E Genetic Test

Test Details

The DPM1 gene is responsible for encoding an enzyme called dolichol-phosphate mannosyltransferase subunit 1, which is involved in the process of protein glycosylation. Glycosylation is a process by which sugar molecules are added to proteins to modify their structure and function.

Mutations in the DPM1 gene can lead to a rare genetic disorder known as glycosylation disorder type 1E, which is characterized by developmental delay, intellectual disability, seizures, and other symptoms.

Test Name: DPM1 Gene Glycosylation Disorder Type 1E 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 DPM1 Gene Glycosylation Disorder Type 1E NGS Genetic DNA Test

A Genetic Counselling session to draw a pedigree chart of family members affected with DPM1 Gene Glycosylation Disorder Type 1E

Test Details:

NGS (next-generation sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. NGS testing can detect mutations in the DPM1 gene that are associated with glycosylation disorder type 1E. This type of testing can provide important information for diagnosis, treatment, and genetic counseling for affected individuals and their families.

Test Name DPM1 Gene Glycosylation disorder type 1E 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 DPM1 Gene Glycosylation disorder type 1E NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with DPM1 Gene Glycosylation disorder type 1E
Test Details

The DPM1 gene is responsible for encoding an enzyme called dolichol-phosphate mannosyltransferase subunit 1, which is involved in the process of protein glycosylation. Glycosylation is a process by which sugar molecules are added to proteins to modify their structure and function. Mutations in the DPM1 gene can lead to a rare genetic disorder known as glycosylation disorder type 1E, which is characterized by developmental delay, intellectual disability, seizures, and other symptoms.

NGS (next-generation sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. NGS testing can detect mutations in the DPM1 gene that are associated with glycosylation disorder type 1E. This type of testing can provide important information for diagnosis, treatment, and genetic counseling for affected individuals and their families.