PGAM2 Gene Glycogen Storage Disease Type 10 NGS Genetic DNA Test
Introduction to the Test
The PGAM2 Gene Glycogen Storage Disease Type 10 NGS Genetic DNA Test is an essential diagnostic tool for individuals suspected of having Glycogen Storage Disease Type 10. This genetic condition affects the metabolism of glycogen, leading to various health complications. By utilizing Next Generation Sequencing (NGS) technology, this test accurately identifies mutations in the PGAM2 gene, which is crucial for diagnosing this metabolic disorder.
What the Test Measures
This test specifically detects mutations in the PGAM2 gene, which plays a vital role in glycogen metabolism. Identifying these mutations helps in confirming the diagnosis of Glycogen Storage Disease Type 10.
Who Should Consider This Test
Individuals who should consider this test include:
- Those with a family history of Glycogen Storage Disease Type 10.
- Patients exhibiting symptoms such as muscle weakness, exercise intolerance, or hypoglycemia.
- Individuals undergoing genetic counseling to understand their risk factors.
Benefits of Taking the Test
Taking the PGAM2 Gene Glycogen Storage Disease Type 10 NGS Genetic DNA Test provides several benefits:
- Accurate diagnosis of Glycogen Storage Disease Type 10.
- Guidance for treatment options and management of symptoms.
- Informed family planning decisions based on genetic risk assessment.
- Access to specialized care and support for affected individuals.
Understanding Your Results
Results from the PGAM2 test are typically available within 3 to 4 weeks. A genetic counselor will help interpret the results, explaining the implications of any identified mutations and discussing potential next steps in management and treatment.
Test Details and Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
PGAM2 Gene Glycogen Storage Disease Type 10 NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Sample Type and Pre-Test Instructions
Sample type required for this test includes:
- Blood
- Extracted DNA
- One drop of blood on an FTA card
Before taking the test, a clinical history of the patient is necessary, along with a genetic counseling session to draw a pedigree chart of family members affected by Glycogen Storage Disease Type 10.
Book Your Test Today!
We have branches across Kenya, including major cities like Nairobi, Mombasa, and Kisumu. To book the PGAM2 Gene Glycogen Storage Disease Type 10 NGS Genetic DNA Test, please call or WhatsApp us at +254711564616. Take control of your genetic health today!