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 an advanced diagnostic tool that plays a vital role in identifying genetic mutations associated with congenital muscular dystrophy and related neurological disorders. This test utilizes Next Generation Sequencing (NGS) technology to provide comprehensive insights into the genetic underpinnings of these conditions.
What the Test Measures
This test specifically detects mutations in the B3GALNT2 gene, which can lead to hypoglycosylation of dystroglycan—a critical protein for muscle function. By analyzing the DNA, healthcare providers can determine the presence of genetic variants that may contribute to muscular dystrophy.
Who Should Consider This Test
Individuals experiencing symptoms of muscular weakness, delayed motor skills, or have a family history of muscular dystrophy should consider this test. Risk factors include:
- Family history of genetic disorders
- Symptoms of muscular dystrophy
- Neurological symptoms such as seizures or developmental delays
Benefits of Taking the Test
Taking the B3GALNT2 Gene test offers several benefits:
- Accurate diagnosis of genetic conditions
- Informed treatment planning and management
- Family planning options for at-risk individuals
- Access to genetic counseling and support
Understanding Your Results
Results will be interpreted by a qualified medical professional. Generally, a positive result may indicate a genetic mutation that requires further medical evaluation and potential treatment options. A negative result does not rule out all genetic conditions, and additional testing may be necessary.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| B3GALNT2 Gene Congenital Muscular Dystrophy and Hypoglycosylation of Dystroglycan NGS Genetic DNA Test | 40000 KSh | 56000 KSh |
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test includes blood or extracted DNA, or one drop of blood on an FTA card. Prior to testing, a clinical history of the patient is required, along with a genetic counseling session to create a pedigree chart of affected family members.
Book Your Test Today!
We have branches across Kenya, including major cities like Nairobi, Mombasa, and Kisumu. To book the B3GALNT2 Gene Congenital Muscular Dystrophy and Hypoglycosylation of Dystroglycan NGS Genetic DNA Test, please call or WhatsApp us at +254713408028.
