Cystic Fibrosis Mutation Screening CFTR Del 508 G551D R553X G542X
Introduction to the Test
The Cystic Fibrosis Mutation Screening (CFTR Del 508 G551D R553X G542X) is a pivotal genetic test designed to identify specific mutations in the CFTR gene that are associated with cystic fibrosis (CF). This condition is a serious genetic disorder that affects the lungs and digestive system, leading to severe respiratory and nutritional challenges. Early detection through genetic screening can significantly improve patient outcomes by enabling timely interventions and personalized care.
What the Test Measures
This screening test detects mutations in the CFTR gene, specifically the Del 508, G551D, R553X, and G542X variants. These mutations disrupt the normal function of the CFTR protein, leading to the symptoms associated with cystic fibrosis.
Who Should Consider This Test
The Cystic Fibrosis Mutation Screening is recommended for individuals who exhibit symptoms of cystic fibrosis or have a family history of the disease. Symptoms may include:
- Chronic cough
- Frequent lung infections
- Difficulty in gaining weight
- Salty-tasting skin
Additionally, individuals planning to start a family or those with a partner who has a known CFTR mutation should also consider this test.
Benefits of Taking the Test
- Early diagnosis of cystic fibrosis can lead to better management of the condition.
- Informs reproductive choices for couples at risk of passing on the disease.
- Guides treatment options and lifestyle changes to improve quality of life.
- Provides peace of mind for individuals concerned about their genetic health.
Understanding Your Results
Results from the Cystic Fibrosis Mutation Screening will indicate whether any of the targeted mutations are present. A positive result may necessitate further testing and consultation with a genetic counselor or specialist. It is essential to discuss your results with a healthcare provider to understand their implications fully.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Cystic Fibrosis Mutation Screening CFTR Del 508 G551D R553X G542X | 150,000 NGN | 200,000 NGN |
Booking Information
The Cystic Fibrosis Mutation Screening can be performed with a Doctor’s prescription. Please note that a prescription is not applicable for surgery and pregnancy cases or for individuals planning to travel abroad. The turnaround time for results is 3-4 days, and the sample type required is peripheral blood collected in an EDTA Vacutainer (2ml).
To book your test or for more information, please call or WhatsApp us at +2348077798758. Take charge of your health today!
