Sale!

COG8 Gene Glycosylation Disorder Type 2H Genetic Test

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

-21%

The “COG8 Gene Glycosylation Disorder Type 2H Genetic Test” is a specialized diagnostic tool available at DNA Labs UAE, designed to identify mutations in the COG8 gene, which are responsible for a rare genetic disorder known as Congenital Disorders of Glycosylation Type 2H (CDG2H). This condition is part of a larger group of diseases that affect the glycosylation process, a critical biochemical pathway responsible for adding sugar molecules to proteins and lipids, which is essential for their proper function. Mutations in the COG8 gene disrupt this process, leading to a wide range of symptoms that can include developmental delay, neurological issues, and abnormalities in liver function, among others.

The test is priced at 4400 AED and involves collecting a DNA sample, usually through a blood draw, which is then analyzed in the laboratory to detect any genetic alterations in the COG8 gene. DNA Labs UAE employs state-of-the-art genetic sequencing technologies to ensure accurate and reliable results, which are crucial for the diagnosis and management of this complex disorder. Early detection through genetic testing can significantly benefit affected individuals by enabling timely intervention and personalized treatment plans, ultimately improving the quality of life for those diagnosed with CDG2H.

Home  Sample collection service available

  • 100% accuaret Test Results
  • Ranked as Most trusted Genetic DNA Lab
  • This test is not intended for medical diagnosis or treatment
Guaranteed Safe Checkout

COG8 Gene Glycosylation Disorder Type 2H Genetic Test

At DNA Labs UAE, we offer the COG8 Gene Glycosylation Disorder Type 2H Genetic Test for AED 4400.0. This test is used to diagnose a rare genetic disorder that affects the process of glycosylation, which is the addition of sugar molecules to proteins and lipids.

Test Details

The COG8 gene glycosylation disorder type 2H is caused by mutations in the COG8 gene. This gene encodes a protein that is involved in the transport of glycosylation enzymes within cells. Our NGS genetic testing uses next-generation sequencing technology to analyze the DNA sequence of the COG8 gene. This allows us to identify mutations in the gene that are associated with the disorder, enabling early diagnosis and appropriate treatment.

Symptoms and Diagnosis

Symptoms of COG8 gene glycosylation disorder type 2H may include developmental delay, intellectual disability, seizures, and abnormal facial features. To diagnose this disorder, we recommend a clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with COG8 gene glycosylation disorder type 2H.

Treatment and Management

Treatment for COG8 gene glycosylation disorder type 2H may include supportive care, such as physical therapy and speech therapy, as well as medications to manage seizures and other symptoms. Early diagnosis through our NGS genetic testing can help healthcare providers make an accurate diagnosis, which can guide treatment and improve outcomes for individuals with this rare genetic disorder.

Report Delivery and Test Department

After the test, the report will be delivered within 3 to 4 weeks. The COG8 Gene Glycosylation Disorder Type 2H Genetic Test is conducted in our Genetics department, under the supervision of a Neurologist.

Test Name COG8 Gene Glycosylation disorder type 2H 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 COG8 Gene Glycosylation disorder type 2H NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with COG8 Gene Glycosylation disorder type 2H
Test Details

COG8 gene glycosylation disorder type 2H is a rare genetic disorder that affects the process of glycosylation, which is the addition of sugar molecules to proteins and lipids. This disorder is caused by mutations in the COG8 gene, which encodes a protein that is involved in the transport of glycosylation enzymes within cells.

NGS genetic testing for COG8 gene glycosylation disorder type 2H is a type of genetic test that uses next-generation sequencing technology to analyze the DNA sequence of the COG8 gene. This test can identify mutations in the gene that are associated with the disorder, allowing for early diagnosis and appropriate treatment.

Symptoms of COG8 gene glycosylation disorder type 2H may include developmental delay, intellectual disability, seizures, and abnormal facial features. Treatment may include supportive care, such as physical therapy and speech therapy, as well as medications to manage seizures and other symptoms.

NGS genetic testing for COG8 gene glycosylation disorder type 2H can help healthcare providers make an accurate diagnosis, which can guide treatment and improve outcomes for individuals with this rare genetic disorder.