Cystic Fibrosis Mutation Detection Test
Introduction to Cystic Fibrosis Mutation Detection Test
The Cystic Fibrosis Mutation Detection Test is an essential genetic test designed to identify mutations in the CFTR gene, which are responsible for cystic fibrosis (CF). This condition is a hereditary disorder that affects the lungs and digestive system, leading to severe respiratory and nutritional complications. Early detection through this test can significantly improve the quality of life and management strategies for patients.
What the Test Measures
This test specifically detects mutations in the CFTR gene, which can indicate the presence of cystic fibrosis. By analyzing the genetic material from the patient, healthcare providers can determine if an individual carries these mutations, allowing for informed decisions regarding treatment and management of the disease.
Who Should Consider This Test?
Individuals who may benefit from the Cystic Fibrosis Mutation Detection Test include:
- Infants and children who exhibit symptoms such as persistent cough, difficulty breathing, or poor weight gain.
- Individuals with a family history of cystic fibrosis or unexplained respiratory symptoms.
- Couples considering pregnancy or prenatal testing, particularly if there is a known risk of cystic fibrosis in the family.
Benefits of Taking the Test
- Early diagnosis of cystic fibrosis, enabling timely intervention and management.
- Informed family planning decisions for couples at risk of passing on the condition.
- Access to specialized care and resources for affected individuals.
- Improved understanding of the disease, leading to better health outcomes.
Understanding Your Results
Results from the Cystic Fibrosis Mutation Detection Test will indicate whether any mutations in the CFTR gene were detected. A positive result may confirm the diagnosis of cystic fibrosis, while a negative result does not rule out the possibility of the disease if symptoms are present. It is important to discuss results with a healthcare provider to understand their implications fully.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 240000 NGN |
| Regular Price | 360000 NGN |
Booking the Test
To book the Cystic Fibrosis Mutation Detection Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling your test and answering any questions you may have.
Test Details
Turnaround Time: Sample Daily by 11 am; Report 6 weeks.
Sample Type: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube OR 10 mL Amniotic fluid in a sterile screw capped container. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Pre-Test Instructions: Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Specialty: Pediatrician, Physician
Department: Molecular Diagnostics
Method: PCR, Sequencing
Disease Type: Genetic Disorders
