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 cutting-edge diagnostic tool that utilizes Next-Generation Sequencing (NGS) technology to identify genetic mutations associated with Glycogen Storage Disease Type 6B. This condition is a rare metabolic disorder that affects the body’s ability to break down glycogen into glucose, leading to serious health complications.
Importance of the Test
Understanding your genetic predisposition to Glycogen Storage Disease Type 6B is crucial for early intervention and management. This test can help clinicians provide personalized treatment plans and genetic counseling for affected individuals and their families.
What the Test Measures
The PYGL Gene test detects mutations in the PYGL gene, which encodes the enzyme glycogen phosphorylase. This enzyme is vital for glycogen breakdown, and mutations can lead to an accumulation of glycogen in the liver and muscles, causing various symptoms.
Who Should Consider This Test
This test is recommended for individuals who:
- Exhibit symptoms such as muscle weakness, fatigue, or hypoglycemia.
- Have a family history of Glycogen Storage Disease Type 6B.
- Are undergoing evaluation for unexplained metabolic disorders.
Benefits of Taking the Test
- Early diagnosis can lead to timely treatment and management strategies.
- Informs family planning and genetic counseling for future generations.
- Provides peace of mind for individuals concerned about their health.
Understanding Your Results
Results from the PYGL Gene test will be interpreted by experienced geneticists. A positive result indicates the presence of a mutation that may lead to Glycogen Storage Disease Type 6B, while a negative result suggests no identifiable mutation. It is essential to discuss your results with a healthcare provider for proper guidance.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PYGL Gene Glycogen Storage Disease Type 6B NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking Information
To book the PYGL Gene Glycogen Storage Disease Type 6B NGS Genetic DNA Test, please contact us at +2348077798758. We recommend scheduling a genetic counseling session prior to the test to discuss your clinical history and draw a pedigree chart of family members affected by Glycogen Storage Disease Type 6B.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Specialty: General Physician
Department: Genetics
Method: NGS Technology
Disease Type: Metabolic Disorders
