B3GALNT2 Gene Congenital Muscular Dystrophy and Hypoglycosylation of Dystroglycan NGS Genetic DNA Test
Introduction
The B3GALNT2 Gene Congenital Muscular Dystrophy and Hypoglycosylation of Dystroglycan NGS Genetic DNA Test is a significant diagnostic tool for understanding congenital muscular dystrophies associated with genetic mutations. This test employs Next-Generation Sequencing (NGS) technology to analyze the B3GALNT2 gene, which plays a crucial role in the proper glycosylation of dystroglycan, a protein essential for muscle function.
What the Test Measures
This test detects mutations in the B3GALNT2 gene that can lead to congenital muscular dystrophy and hypoglycosylation of dystroglycan. By identifying these genetic alterations, healthcare providers can better understand the underlying causes of muscle weakness and other related symptoms.
Who Should Consider This Test
Individuals who may benefit from this test include:
- Those exhibiting symptoms of muscular dystrophy, such as muscle weakness or difficulty in movement.
- Patients with a family history of congenital muscular dystrophies or related neurological disorders.
- Individuals identified by a neurologist for further genetic evaluation.
Benefits of Taking the Test
Taking the B3GALNT2 Gene test offers numerous benefits:
- Accurate diagnosis of genetic conditions, leading to tailored treatment plans.
- Informed family planning and genetic counseling options.
- Access to specialized care for managing symptoms associated with muscular dystrophy.
Understanding Your Results
Results from the B3GALNT2 Gene test will provide information about the presence of any genetic mutations. A genetic counselor or healthcare provider will help interpret these results, discussing their implications for treatment and management.
Test Name and Price
| Discount Price | Regular Price |
|---|---|
| 400,000 NGN | 560,000 NGN |
Booking the Test
To book the B3GALNT2 Gene Congenital Muscular Dystrophy and Hypoglycosylation of Dystroglycan NGS Genetic DNA Test, please contact us at +2348110567037. Our team is ready to assist you with scheduling and any further inquiries you may have.
Test Details
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: A clinical history of the patient is required, along with a genetic counseling session to draw a pedigree chart of family members affected by B3GALNT2 Gene Congenital Muscular Dystrophy.
Don’t wait to get the answers you need. Book your test today!
