PGM1 Gene Glycogen Storage Disease Type 14 Genetic Test
At DNA Labs UAE, we offer the PGM1 Gene Glycogen Storage Disease Type 14 Genetic Test to help diagnose and identify this rare genetic disorder. This test is designed to analyze the PGM1 gene, which is responsible for producing the enzyme phosphoglucomutase 1. Mutations in this gene can lead to glycogen storage disease type 14 (GSD14).
Test Components
- Test Name: PGM1 Gene Glycogen Storage Disease Type 14 Genetic Test
- 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 PGM1 Gene Glycogen Storage Disease Type 14 Genetic 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 by GSD14.
Test Details
GSD14 is an autosomal recessive disorder, meaning that individuals must inherit two copies of the mutated PGM1 gene (one from each parent) to develop the condition. This genetic disorder is characterized by impaired glycogen breakdown and synthesis, leading to the accumulation of abnormal glycogen in various tissues of the body.
The PGM1 Gene Glycogen Storage Disease Type 14 Genetic Test utilizes Next-Generation Sequencing (NGS) technology to identify mutations in the PGM1 gene. NGS allows for the simultaneous sequencing of multiple genes, including PGM1, in a cost-effective and efficient manner. By analyzing the patient’s DNA sample, this test can detect specific mutations associated with GSD14.
The PGM1 Gene Glycogen Storage Disease Type 14 Genetic Test is useful for confirming a diagnosis in individuals suspected of having GSD14. It can also be utilized for carrier screening in families with a history of GSD14 or for prenatal testing to determine if a fetus has inherited the mutated PGM1 gene.
It is important to note that this genetic test should be performed by a qualified healthcare professional or genetic counselor who can accurately interpret the results and provide appropriate counseling and guidance.
| Test Name | PGM1 Gene Glycogen storage disease type 14 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 PGM1 Gene Glycogen storage disease type 14 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 14 |
| Test Details |
The PGM1 gene is responsible for producing the enzyme phosphoglucomutase 1, which plays a crucial role in glycogen metabolism. Mutations in the PGM1 gene can lead to a rare genetic disorder known as glycogen storage disease type 14 (GSD14). GSD14 is an autosomal recessive disorder, meaning that individuals must inherit two copies of the mutated PGM1 gene (one from each parent) to develop the condition. This disease is characterized by impaired glycogen breakdown and synthesis, resulting in the accumulation of abnormal glycogen in various tissues throughout the body. NGS (Next-Generation Sequencing) genetic testing is a diagnostic method that can identify mutations in the PGM1 gene. This technology allows for the simultaneous sequencing of multiple genes, including PGM1, in a cost-effective and efficient manner. By analyzing an individual’s DNA sample, NGS can detect specific mutations in the PGM1 gene associated with GSD14. The NGS genetic test for GSD14 can help confirm a diagnosis in individuals suspected of having the condition. It can also be used for carrier screening in families with a history of GSD14 or for prenatal testing to determine if a fetus has inherited the mutated PGM1 gene. It is important to note that genetic testing for GSD14 should be performed by a qualified healthcare professional or genetic counselor who can interpret the results accurately and provide appropriate counseling and guidance. |
