PYGM Gene Glycogen Storage Disease Type 5 NGS Genetic DNA Test
Introduction
The PYGM Gene Glycogen Storage Disease Type 5 NGS Genetic DNA Test is an advanced diagnostic tool designed to identify mutations in the PYGM gene, which is responsible for glycogen metabolism. This test plays a vital role in diagnosing Glycogen Storage Disease Type 5 (GSD5), a rare metabolic disorder that can lead to serious health complications if left untreated. Early detection through this genetic test allows for timely intervention and management of the disease.
What the Test Measures
This genetic test specifically measures the presence of mutations in the PYGM gene. It utilizes Next-Generation Sequencing (NGS) technology to provide accurate and comprehensive results, ensuring that any genetic variations affecting glycogen storage are detected.
Who Should Consider This Test
Individuals who may benefit from the PYGM Gene Glycogen Storage Disease Type 5 NGS Genetic DNA Test include:
- Those with a family history of metabolic disorders, especially Glycogen Storage Disease Type 5.
- Patients exhibiting symptoms such as muscle weakness, exercise intolerance, and hypoglycemia.
- Individuals seeking genetic counseling to understand their risk factors and implications for family planning.
Benefits of Taking the Test
Undergoing the PYGM Gene Glycogen Storage Disease Type 5 NGS Genetic DNA Test offers numerous benefits:
- Accurate diagnosis of Glycogen Storage Disease Type 5.
- Informed decision-making regarding treatment and management options.
- Understanding the genetic basis of the disorder, which can aid in family planning.
- Access to genetic counseling for affected individuals and their families.
Understanding Your Results
Once the test is completed, results will be provided within 3 to 4 weeks. It is important to consult with a healthcare professional to interpret the results accurately. They will help you understand the implications of any identified mutations and discuss potential management strategies.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PYGM Gene Glycogen Storage Disease Type 5 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book the Test
To book the PYGM Gene Glycogen Storage Disease Type 5 NGS Genetic DNA Test, please contact us at +2348077798758 via call or WhatsApp. Our team is ready to assist you with your diagnostic needs.
Pre-Test Instructions
Before undergoing the test, it is essential to provide a clinical history and participate in a genetic counseling session. This session will help in drawing a pedigree chart of family members affected by Glycogen Storage Disease Type 5, ensuring a comprehensive understanding of the genetic implications.
Specialty and Method
This test falls under the specialty of General Physician and is conducted in the Genetics department using NGS technology, focusing on metabolic disorders.
