PHKG2 Gene Glycogen Storage Disease Type 9C NGS Genetic DNA Test
Introduction
The PHKG2 Gene Glycogen Storage Disease Type 9C NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to detect genetic mutations that lead to Glycogen Storage Disease Type 9C, a rare metabolic disorder. This test employs Next-Generation Sequencing (NGS) technology to analyze the PHKG2 gene, providing crucial insights into the genetic underpinnings of the disease. Early detection through this test can significantly impact treatment options and management strategies for affected individuals.
What the Test Measures
This test specifically measures mutations in the PHKG2 gene, which is responsible for encoding a subunit of the enzyme phosphorylase kinase. Mutations in this gene can lead to an accumulation of glycogen in various tissues, ultimately resulting in metabolic dysfunction.
Who Should Consider This Test?
Individuals who should consider the PHKG2 Gene Glycogen Storage Disease Type 9C NGS Genetic DNA Test include:
- Patients with symptoms of metabolic disorders, such as muscle weakness, fatigue, or exercise intolerance.
- Individuals with a family history of Glycogen Storage Disease Type 9C.
- Those who have been referred by a healthcare provider for genetic testing due to clinical indications.
Benefits of Taking the Test
- Provides definitive diagnosis of Glycogen Storage Disease Type 9C.
- Enables informed decision-making regarding treatment and management.
- Helps in understanding the risk of passing the condition to future generations.
- Facilitates access to specialized care and support services.
Understanding Your Results
Results from the PHKG2 Gene Glycogen Storage Disease Type 9C NGS Genetic DNA Test will be interpreted by qualified genetic counselors or medical professionals. They will provide guidance on the implications of the results, including potential treatment options and lifestyle modifications. It is essential to discuss your results with your healthcare provider for a comprehensive understanding.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
PHKG2 Gene Glycogen Storage Disease Type 9C NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Convenient Testing Across Kenya
We have branches across all major cities in Kenya, ensuring easy access to our diagnostic services. Additionally, we offer home sample collection services for your convenience. If you suspect you or a family member may be affected by Glycogen Storage Disease Type 9C, consider booking the PHKG2 Gene Glycogen Storage Disease Type 9C NGS Genetic DNA Test today!
Book Your Test Today!
For more information or to schedule your test, please call or WhatsApp us at +254711564616. Our team is ready to assist you with any inquiries and guide you through the booking process.