MPI Gene Glycosylation disorder type 1B Genetic Test
Genetic testing plays a crucial role in diagnosing and managing various genetic disorders. One such test is the MPI Gene Glycosylation disorder type 1B Genetic Test offered by DNA Labs UAE.
Test Details
The MPI Gene Glycosylation Disorder Type 1B NGS Genetic Test is a type of genetic test that identifies mutations or variations in the MPI gene. The MPI gene is responsible for producing the enzyme mannose phosphate isomerase, which is involved in the glycosylation process that adds sugar molecules to proteins.
Mutations or variations in the MPI gene can lead to MPI gene glycosylation disorder type 1B, also known as MPI-CDG (Congenital Disorders of Glycosylation). This disorder affects the glycosylation process, resulting in various symptoms such as developmental delays, intellectual disability, growth abnormalities, liver dysfunction, and neurological problems.
The MPI Gene Glycosylation Disorder Type 1B NGS Genetic Test utilizes Next-Generation Sequencing (NGS) technology to analyze the DNA sequence of the MPI gene. This allows for the identification of any mutations or variations that may be present.
Test Components and Price
The MPI Gene Glycosylation disorder type 1B Genetic Test costs AED 4400.0. The test requires a blood sample, extracted DNA, or one drop of blood on an FTA Card.
Report Delivery and Method
The test results are typically delivered within 3 to 4 weeks. The NGS technology is employed to analyze the DNA sequence of the MPI gene.
Test Type and Doctor
The MPI Gene Glycosylation disorder type 1B Genetic Test falls under the category of Metabolic Disorders. The test is conducted under the supervision of a General Physician in the Genetics department.
Pre Test Information
Prior to the test, it is essential to provide the clinical history of the patient who is undergoing the MPI Gene Glycosylation disorder type 1B NGS Genetic DNA Test. Additionally, a Genetic Counselling session is recommended to draw a pedigree chart of family members affected by Glycosylation disorder type 1B.
Conclusion
The MPI Gene Glycosylation disorder type 1B Genetic Test is a valuable tool in diagnosing and managing MPI gene glycosylation disorder type 1B. By identifying mutations or variations in the MPI gene, this test provides crucial information for genetic counseling, family planning, and medical management decisions. With the help of NGS technology, DNA Labs UAE ensures accurate and reliable results for individuals with MPI gene glycosylation disorder type 1B.
Test Name | MPI Gene Glycosylation disorder type 1B 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 MPI Gene Glycosylation disorder type 1B NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycosylation disorder type 1B |
Test Details |
MPI Gene Glycosylation Disorder Type 1B NGS Genetic Test is a type of genetic test that is used to identify mutations or variations in the MPI gene. This gene is responsible for producing the enzyme mannose phosphate isomerase, which is involved in the production of glycosylation, a process that adds sugar molecules to proteins. Mutations or variations in the MPI gene can lead to MPI gene glycosylation disorder type 1B, also known as MPI-CDG (Congenital Disorders of Glycosylation). This disorder affects the glycosylation process, leading to a range of symptoms including developmental delays, intellectual disability, growth abnormalities, liver dysfunction, and neurological problems. The NGS (Next-Generation Sequencing) technique is used in this genetic test to analyze the DNA sequence of the MPI gene and identify any mutations or variations that may be present. This test can help in confirming a diagnosis of MPI gene glycosylation disorder type 1B and providing information about the specific genetic variant that is causing the disorder. The results of the MPI Gene Glycosylation Disorder Type 1B NGS Genetic Test can be used for genetic counseling, family planning, and to guide medical management and treatment decisions for individuals with MPI gene glycosylation disorder type 1B. |