PMM2 Gene Glycosylation Disorder Type 1A Genetic Test
At DNA Labs UAE, we offer the PMM2 Gene Glycosylation Disorder Type 1A Genetic Test, a diagnostic test used to identify mutations in the PMM2 gene associated with type 1A congenital disorder of glycosylation (CDG).
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
Prior to undergoing the PMM2 Gene Glycosylation Disorder Type 1A NGS Genetic DNA 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 with Glycosylation Disorder Type 1A.
Test Details
The PMM2 gene glycosylation disorder type 1A NGS genetic test is a diagnostic test used to identify mutations in the PMM2 gene that are associated with type 1A congenital disorder of glycosylation (CDG). CDG is a group of rare genetic disorders characterized by abnormal protein glycosylation, which can lead to a wide range of symptoms including developmental delays, intellectual disability, and organ dysfunction.
The PMM2 gene is responsible for producing an enzyme called phosphomannomutase 2, which plays a crucial role in the glycosylation process. Mutations in the PMM2 gene can impair the function of this enzyme, leading to abnormal glycosylation and the development of CDG type 1A.
The NGS (Next-Generation Sequencing) genetic test is a high-throughput sequencing method that can analyze multiple genes simultaneously. This test specifically targets the PMM2 gene and can identify a wide range of mutations that may be present in an individual’s DNA.
The PMM2 gene glycosylation disorder type 1A NGS genetic test is typically performed on individuals who present with symptoms consistent with CDG type 1A. It can help confirm a diagnosis, guide treatment decisions, and provide information about the risk of passing the condition on to future generations.
It’s important to note that this test is typically ordered by a healthcare professional, such as a geneticist or genetic counselor, and the results should be interpreted in conjunction with a thorough clinical evaluation. Genetic counseling is often recommended for individuals undergoing genetic testing to help them understand the implications of the results and make informed decisions about their healthcare.
| Test Name | PMM2 Gene Glycosylation disorder type 1A 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 PMM2 Gene Glycosylation disorder type 1A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycosylation disorder type 1A |
| Test Details |
The PMM2 gene glycosylation disorder type 1A NGS genetic test is a diagnostic test used to identify mutations in the PMM2 gene that are associated with type 1A congenital disorder of glycosylation (CDG). CDG is a group of rare genetic disorders characterized by abnormal protein glycosylation, which can lead to a wide range of symptoms including developmental delays, intellectual disability, and organ dysfunction. The PMM2 gene is responsible for producing an enzyme called phosphomannomutase 2, which plays a crucial role in the glycosylation process. Mutations in the PMM2 gene can impair the function of this enzyme, leading to abnormal glycosylation and the development of CDG type 1A. The NGS (Next-Generation Sequencing) genetic test is a high-throughput sequencing method that can analyze multiple genes simultaneously. This test specifically targets the PMM2 gene and can identify a wide range of mutations that may be present in an individual’s DNA. The PMM2 gene glycosylation disorder type 1A NGS genetic test is typically performed on individuals who present with symptoms consistent with CDG type 1A. It can help confirm a diagnosis, guide treatment decisions, and provide information about the risk of passing the condition on to future generations. It’s important to note that this test is typically ordered by a healthcare professional, such as a geneticist or genetic counselor, and the results should be interpreted in conjunction with a thorough clinical evaluation. Genetic counseling is often recommended for individuals undergoing genetic testing to help them understand the implications of the results and make informed decisions about their healthcare. |
