CAPN3 Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2A NGS Genetic DNA Test
Introduction
The CAPN3 Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2A NGS Genetic DNA Test is a specialized diagnostic tool designed to identify mutations in the CAPN3 gene, which are associated with Limb-girdle muscular dystrophy type 2A. This condition affects muscle strength and function, leading to progressive muscle weakness. Early detection through genetic testing is crucial for effective management and treatment planning.
What the Test Measures
This genetic test measures the presence of mutations in the CAPN3 gene, which encodes a protein that plays a critical role in muscle function. By analyzing the genetic material, the test can confirm or rule out the diagnosis of Limb-girdle muscular dystrophy type 2A.
Who Should Consider This Test?
Individuals who may benefit from this test include:
- Those with a family history of Limb-girdle muscular dystrophy.
- Patients exhibiting symptoms such as muscle weakness, difficulty walking, or muscle wasting.
- Individuals who have undergone prior muscle biopsies with inconclusive results.
Benefits of Taking the Test
- Provides a definitive diagnosis, allowing for informed decisions regarding treatment and management.
- Facilitates genetic counseling for affected families.
- Helps in understanding the risk of passing the condition to future generations.
- Enables proactive health management strategies.
Understanding Your Results
Results from the CAPN3 Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2A NGS Genetic DNA Test will indicate whether mutations are present. A positive result confirms the diagnosis, while a negative result can provide reassurance. It is essential to discuss results with a healthcare professional to understand their implications fully.
Test Information
| Test Name | Price (NGN) |
|---|---|
| CAPN3 Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2A NGS Genetic DNA Test | Regular Price: 560,000 NGN Discount Price: 400,000 NGN |
Booking the Test
To book the CAPN3 Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2A NGS Genetic DNA Test, please contact us via phone or WhatsApp at +2348110567037. Our team is ready to assist you with scheduling and any inquiries you may have.
Additional Test Details
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
- Pre-test Instructions: Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with CAPN3 Gene Limb-girdle muscular dystrophy.
- Specialty: Neurology
- Department: Genetics
- Method: NGS Technology
- Disease Type: Neurological Disorders
