PFKM Gene Glycogen Storage Disease Type 7 NGS Genetic DNA Test
Introduction
The PFKM Gene Glycogen Storage Disease Type 7 NGS Genetic DNA Test is a pivotal diagnostic tool for identifying Glycogen Storage Disease Type 7 (GSD7), a rare metabolic disorder caused by mutations in the PFKM gene. This condition affects the body’s ability to metabolize carbohydrates, leading to serious health issues. Early detection through genetic testing can significantly improve patient management and outcomes.
What the Test Measures
This genetic test utilizes Next Generation Sequencing (NGS) technology to analyze the PFKM gene for specific mutations that are known to cause Glycogen Storage Disease Type 7. By identifying these mutations, healthcare providers can confirm a diagnosis and tailor treatment plans accordingly.
Who Should Consider This Test
Individuals who may benefit from the PFKM Gene Glycogen Storage Disease Type 7 NGS Genetic DNA Test include:
- Those experiencing symptoms such as muscle weakness, exercise intolerance, or recurrent muscle cramps.
- Individuals with a family history of Glycogen Storage Disease Type 7 or related metabolic disorders.
- Patients referred by a general physician or specialist due to suspected metabolic disorders.
Benefits of Taking the Test
Taking the PFKM Gene Glycogen Storage Disease Type 7 NGS Genetic DNA Test offers numerous advantages:
- Accurate diagnosis of Glycogen Storage Disease Type 7.
- Informed decision-making regarding treatment and management options.
- Understanding genetic risks for family members.
- Peace of mind through clarity about one’s health status.
Understanding Your Results
Results from the PFKM Gene Glycogen Storage Disease Type 7 NGS Genetic DNA Test will typically be available within 3 to 4 weeks. A healthcare professional will interpret the results, providing guidance on the implications of any identified mutations and discussing potential next steps.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PFKM Gene Glycogen Storage Disease Type 7 NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Book Your Test Today
We have branches across major cities in Kenya, including Nairobi, Mombasa, and Kisumu, making it easy for you to access our services. We also offer home sample collection for your convenience.
To book the PFKM Gene Glycogen Storage Disease Type 7 NGS Genetic DNA Test, please call or WhatsApp us at +254711564616. Don’t wait—take control of your health today!
