Nx Gen Sequencing Bethlem Myopathy Myofibrillar Myopathy Ullrich Muscular Dystrophy Test
Introduction to the Test
The Nx Gen Sequencing Bethlem Myopathy Myofibrillar Myopathy Ullrich Muscular Dystrophy Test is a cutting-edge diagnostic tool designed to identify genetic disorders that lead to muscle weakness and joint contractures. By utilizing advanced Next-Generation Sequencing (NGS) and Sanger sequencing methods, this test provides a comprehensive analysis of critical genes associated with these conditions.
What the Test Measures
This test measures and detects mutations in key genes including BAG3, COL6A1, COL6A2, COL6A3, CRYAB, DES, FLNC, LDB3, and MYOT. These genes are vital for muscle function and integrity, and abnormalities in these areas can lead to severe muscular disorders.
Who Should Consider This Test
Individuals experiencing symptoms such as:
- Muscle weakness
- Joint contractures
- Family history of muscular dystrophies
- Unexplained muscle-related symptoms
should consider undergoing this test. Additionally, individuals with risk factors for genetic muscle disorders may benefit from this analysis.
Benefits of Taking the Test
- Accurate diagnosis of genetic conditions affecting muscle strength.
- Guidance for treatment options based on genetic findings.
- Informed family planning decisions.
- Access to specialized care from neurologists and genetic counselors.
Understanding Your Results
Upon receiving your results, a qualified healthcare provider will help interpret the findings. It is essential to understand the implications of any detected mutations and discuss potential management strategies tailored to your specific condition.
Test Name and Price
| Test Name | Price (NGN) |
|---|---|
| Nx Gen Sequencing Bethlem Myopathy Myofibrillar Myopathy Ullrich Muscular Dystrophy Test | Discount Price: 468000 NGN |
| Regular Price: 520000 NGN |
How to Book the Test
To book the Nx Gen Sequencing Bethlem Myopathy Myofibrillar Myopathy Ullrich Muscular Dystrophy Test, please call or WhatsApp us at +2348077798758. Ensure you have a duly filled Whole Exome Sequencing Consent Form (Form 37) ready, as it is mandatory for processing your sample.
Sample Submission Instructions
Submit 10 mL (5 mL min.) of whole blood from 2 Lavender Top (EDTA) tubes. Ensure the sample is shipped refrigerated and DO NOT FREEZE.
Turnaround Time
Samples are accepted daily by 9 AM, with reports available in approximately 40 working days.
