PHKA2 Gene Glycogen Storage Disease Type 9A NGS Genetic DNA Test
Introduction
The PHKA2 Gene Glycogen Storage Disease Type 9A NGS Genetic DNA Test is a crucial diagnostic tool for identifying genetic mutations associated with Glycogen Storage Disease Type 9A (GSD9A). This condition falls under the category of metabolic disorders, where the body is unable to properly store and utilize glycogen, leading to various health complications. Early diagnosis through this test can significantly enhance patient management and treatment outcomes.
What the Test Measures
This genetic test specifically analyzes the PHKA2 gene, which is responsible for encoding a protein that plays a vital role in glycogen metabolism. By utilizing Next Generation Sequencing (NGS) technology, the test detects any mutations or alterations in the PHKA2 gene that may lead to GSD9A.
Who Should Consider This Test
This test is recommended for individuals experiencing symptoms associated with glycogen storage diseases, such as:
- Muscle weakness
- Hypoglycemia (low blood sugar)
- Growth retardation in children
- Elevated liver enzymes
Additionally, individuals with a family history of metabolic disorders or those who have undergone genetic counseling should consider this test.
Benefits of Taking the Test
- Accurate diagnosis of Glycogen Storage Disease Type 9A
- Guidance for appropriate management and treatment options
- Informed family planning through understanding genetic risks
- Access to specialized care and support for affected individuals
Understanding Your Results
Upon completion of the test, results will be analyzed and interpreted by qualified genetic specialists. A comprehensive report will be provided, detailing any identified mutations and their implications. It is essential to follow up with your healthcare provider to discuss the results and potential next steps.
Test Name and Price
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PHKA2 Gene Glycogen Storage Disease Type 9A NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Branches and Booking
We have branches across all major cities in Kenya, including Nairobi, Mombasa, and Kisumu. We also offer a home sample collection service for your convenience. To book the PHKA2 Gene Glycogen Storage Disease Type 9A NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
