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. |
