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DOLK Gene Glycosylation Disorder Type 1M Genetic Test Cost

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

-21%

The “DOLK Gene Glycosylation Disorder Type 1M Genetic Test” is a specialized diagnostic tool available at DNA Labs UAE, designed to identify mutations in the DOLK gene, which are responsible for a rare genetic condition known as Congenital Disorders of Glycosylation Type 1m (CDG-1m). This condition affects the body’s ability to properly attach sugar molecules to proteins, a process essential for various bodily functions. Symptoms can range from mild to severe and may include developmental delay, skin abnormalities, and problems with the nervous system and internal organs.

The test, priced at 4400 AED, involves analyzing the patient’s DNA to look for specific mutations in the DOLK gene that are indicative of the disorder. This is crucial for confirming the diagnosis, understanding the disease’s progression, and potentially guiding treatment options. Conducted at DNA Labs UAE, the test represents an important step towards personalized medicine, offering hope to families affected by this rare condition by providing them with accurate diagnoses and the possibility of targeted interventions.

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DOLK Gene Glycosylation Disorder Type 1M Genetic Test

At DNA Labs UAE, we offer the DOLK Gene Glycosylation Disorder Type 1M Genetic Test to help diagnose and manage this rare genetic disorder. Read on to learn more about the test components, cost, symptoms, and diagnosis process.

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

Symptoms and Diagnosis

The DOLK gene is responsible for encoding the enzyme dolichol kinase, which is crucial for the glycosylation process. Glycosylation is the attachment of sugar molecules to proteins or lipids, and it plays a vital role in various cellular functions.

Glycosylation Disorder Type 1M is a rare genetic disorder caused by mutations in the DOLK gene. This disorder affects the glycosylation process, leading to the abnormal production of glycoproteins and glycolipids. Individuals with this disorder may experience symptoms such as developmental delay, intellectual disability, seizures, hearing loss, and physical abnormalities.

To diagnose DOLK Gene Glycosylation Disorder Type 1M, we offer NGS genetic testing. NGS technology allows us to analyze multiple genes simultaneously. This test can identify mutations or variations in the DOLK gene that may be responsible for the disorder.

The test involves collecting a sample of DNA, usually through a blood sample or cheek swab. The DNA is then sequenced using NGS technology to identify any mutations or variations in the DOLK gene. The results of the test can confirm a diagnosis of DOLK Gene Glycosylation Disorder Type 1M and provide valuable information for genetic counseling and management of the condition.

It is important to note that NGS genetic testing may not be available in all healthcare settings and may require specialized laboratories or genetic testing centers. We recommend genetic counseling before and after the test to understand the implications of the results and discuss potential treatment options or management strategies.

For more information or to schedule a DOLK Gene Glycosylation Disorder Type 1M Genetic Test, please contact DNA Labs UAE.

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

The DOLK gene is responsible for encoding the enzyme dolichol kinase, which plays a crucial role in the glycosylation process. Glycosylation is the attachment of sugar molecules to proteins or lipids, and it is essential for various cellular functions.

Glycosylation disorder type 1M is a rare genetic disorder caused by mutations in the DOLK gene. This disorder affects the glycosylation process, leading to the abnormal production of glycoproteins and glycolipids. As a result, affected individuals may experience a wide range of symptoms, including developmental delay, intellectual disability, seizures, hearing loss, and other physical abnormalities.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of DOLK gene glycosylation disorder type 1M, NGS genetic testing can be used to identify mutations or variations in the DOLK gene that may be responsible for the disorder.

NGS genetic testing for DOLK gene glycosylation disorder type 1M involves collecting a sample of DNA, usually through a blood sample or cheek swab. The DNA is then sequenced using NGS technology to identify any mutations or variations in the DOLK gene. The results of the test can help confirm a diagnosis of DOLK gene glycosylation disorder type 1M and provide valuable information for genetic counseling and management of the condition.

It is important to note that NGS genetic testing may not be available in all healthcare settings and may require specialized laboratories or genetic testing centers. Genetic counseling is recommended before and after genetic testing to understand the implications of the test results and discuss any potential treatment options or management strategies.

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