POMT1 Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2N NGS Genetic DNA Test
Introduction
The POMT1 Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2N NGS Genetic DNA Test is a state-of-the-art diagnostic tool designed to detect genetic mutations associated with Limbgirdle muscular dystrophy (LGMD) type 2N. This condition affects muscle strength and function, leading to progressive weakness. By utilizing Next-Generation Sequencing (NGS) technology, this test offers a comprehensive analysis of the POMT1 gene, which is crucial for accurate diagnosis and management of the condition.
What the Test Measures
This genetic test specifically measures mutations in the POMT1 gene, which encodes a protein involved in glycosylation, essential for muscle cell function. Detecting these mutations can help confirm a diagnosis of LGMD type 2N and guide treatment options.
Who Should Consider This Test?
Individuals who may benefit from this test include:
- Those with a family history of Limbgirdle muscular dystrophy.
- Patients exhibiting symptoms such as progressive muscle weakness, especially in the shoulders and hips.
- Individuals seeking genetic counseling for family planning purposes.
Benefits of Taking the Test
- Accurate diagnosis of LGMD type 2N.
- Informed decision-making regarding treatment and management.
- Guidance for family planning and risk assessment for relatives.
- Access to appropriate support and resources for affected individuals.
Understanding Your Results
Once the test is completed, your results will be analyzed by our expert geneticists. It is important to discuss the findings with a healthcare provider or genetic counselor to understand the implications of the results and the next steps.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
Book the Test
Don’t wait to gain clarity on your genetic health. Book the POMT1 Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2N NGS Genetic DNA Test today! For more information or to schedule your appointment, please call or WhatsApp us at +2348077798758.
Turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test is blood, extracted DNA, or one drop of blood on an FTA card. Prior to testing, a genetic counseling session is recommended to discuss the clinical history and create a pedigree chart for affected family members.
