PYGL Gene Glycogen Storage Disease Type 6B NGS Genetic DNA Test
Introduction to the Test
The PYGL Gene Glycogen Storage Disease Type 6B NGS Genetic DNA Test is a specialized genetic test designed to identify mutations in the PYGL gene, which are responsible for Glycogen Storage Disease Type 6B. This condition is a metabolic disorder that affects the body’s ability to break down glycogen into glucose, leading to various health complications. Early detection through this genetic test is crucial for effective management and treatment.
What the Test Measures
This test detects mutations in the PYGL gene, which encodes the enzyme glycogen phosphorylase. By analyzing the genetic material, the test can determine whether there are any pathogenic variants that may lead to Glycogen Storage Disease Type 6B.
Who Should Consider This Test?
Individuals who may benefit from this test include:
- Those with a family history of Glycogen Storage Disease Type 6B.
- Patients exhibiting symptoms such as muscle weakness, hypoglycemia, and liver enlargement.
- Individuals with unexplained metabolic issues or those diagnosed with metabolic disorders.
Benefits of Taking the Test
Taking the PYGL Gene Glycogen Storage Disease Type 6B NGS Genetic DNA Test offers several benefits:
- Accurate diagnosis of Glycogen Storage Disease Type 6B.
- Informed decision-making regarding treatment options.
- Early intervention to manage symptoms and prevent complications.
- Genetic counseling for affected family members.
Understanding Your Results
Upon receiving your test results, it is essential to consult with your healthcare provider to interpret the findings accurately. Positive results indicate the presence of mutations in the PYGL gene, while negative results suggest no identified mutations. Your doctor will guide you on the next steps based on your results.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PYGL Gene Glycogen Storage Disease Type 6B NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Book Your Test Today
We have branches across Kenya, including Nairobi, Mombasa, and Kisumu, to serve you better. Additionally, we offer a home sample collection service for your convenience. To book the PYGL Gene Glycogen Storage Disease Type 6B NGS Genetic DNA Test, please call or WhatsApp us at +254711564616. Your health is our priority!
Pre-Test Instructions
Before undergoing the test, it is recommended to have a genetic counseling session to discuss your clinical history and draw a pedigree chart of family members affected by Glycogen Storage Disease Type 6B. This will help in understanding the implications of the test results.
Turnaround Time and Sample Type
The turnaround time for this test is approximately 3 to 4 weeks. Samples can be collected from:
- Blood
- Extracted DNA
- One drop of blood on an FTA card
