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 test is a genetic test designed to detect specific mutations in the CFTR gene that are associated with cystic fibrosis (CF). CF is a serious genetic disorder that primarily affects the lungs and digestive system, leading to significant health challenges. This test is crucial for early diagnosis, which can improve management and treatment outcomes for affected individuals.
What the Test Measures
This test measures the presence of specific mutations in the CFTR gene: Del 508, G551D, R553X, and G542X. By identifying these mutations, healthcare providers can assess the risk of developing cystic fibrosis or carrying the gene, enabling informed decisions regarding family planning and treatment options.
Who Should Consider This Test
Individuals who should consider the Cystic Fibrosis Mutation Screening include:
- Those with a family history of cystic fibrosis.
- Individuals presenting symptoms such as chronic cough, lung infections, or unexplained digestive issues.
- Couples planning to conceive, especially if there is a known history of CF in the family.
Benefits of Taking the Test
Taking the Cystic Fibrosis Mutation Screening test offers several benefits:
- Early diagnosis can lead to timely interventions and management strategies.
- Informs family planning decisions for couples at risk of having children with CF.
- Provides clarity for individuals experiencing symptoms related to cystic fibrosis.
Understanding Your Results
Results from the Cystic Fibrosis Mutation Screening will indicate whether or not the specific mutations were detected. A positive result means the individual carries one or more of the mutations associated with cystic fibrosis, while a negative result indicates the absence of these mutations. It is important to discuss results with a healthcare provider to understand the implications and next steps.
Test Pricing
| Test Name | Price (KSh) |
|---|---|
| Cystic Fibrosis Mutation Screening CFTR Del 508 G551D R553X G542X | Regular Price: 20,000 KSh Discount Price: 15,000 KSh |
Test Details
Turnaround Time: 3-4 days
Sample Type: Peripheral blood
Test Components: EDTA Vacutainer (2ml)
Pre-Test Instructions: A Doctor’s prescription is required for the Cystic Fibrosis Mutation Screening. Note that prescription is not applicable for surgery, pregnancy cases, or individuals planning to travel abroad.
Booking the Test
We have branches across Kenya and offer a convenient home sample collection service. To book your Cystic Fibrosis Mutation Screening CFTR Del 508 G551D R553X G542X test, please call or WhatsApp us at +254711564616. Take the first step towards understanding your health today!
