Prader-Willi Syndrome Mutation Detection Methylation Specific PCR Test
Introduction
The Prader-Willi Syndrome Mutation Detection Methylation Specific PCR Test is a crucial diagnostic tool used to detect genetic mutations associated with Prader-Willi Syndrome (PWS). This syndrome is a complex genetic disorder characterized by a range of symptoms including hypotonia, developmental delays, and hyperphagia. Early detection through this test allows for timely intervention and management of symptoms, significantly improving the quality of life for affected individuals.
What the Test Measures
This test specifically measures the methylation status of genes on chromosome 15 that are associated with Prader-Willi Syndrome. By analyzing the DNA from a blood sample, the test can determine whether the genetic mutation is present, providing critical information for diagnosis.
Who Should Consider This Test
This test is recommended for individuals who exhibit symptoms of Prader-Willi Syndrome, such as:
- Severe hypotonia (decreased muscle tone) in infancy
- Feeding difficulties and failure to thrive
- Developmental delays
- Obesity and hyperphagia in childhood
- Behavioral issues and learning difficulties
Additionally, it is advised for those with a family history of genetic disorders or unexplained developmental delays.
Benefits of Taking the Test
- Accurate diagnosis of Prader-Willi Syndrome
- Guidance for treatment and management of symptoms
- Informed family planning for potential future pregnancies
- Access to support services and resources for affected individuals and families
Understanding Your Results
Once the test is completed, results will indicate whether the genetic mutation associated with Prader-Willi Syndrome is present. A positive result confirms the diagnosis, while a negative result may require further evaluation. It is essential to consult with a healthcare provider to interpret the results and discuss potential next steps.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 220,000 NGN |
| Regular Price | 360,000 NGN |
Booking the Test
To book the Prader-Willi Syndrome Mutation Detection Methylation Specific PCR Test, please contact us at +2348110567037. Ensure you have a duly filled Genomics Clinical Information Requisition Form (Form 20) ready, as it is mandatory for processing your test.
Test Details
- Sample Type: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
- Turnaround Time: Sample submitted by 11 am; Report available in 12 working days.
- Specialty: Pediatrician
- Department: Molecular Diagnostics
- Method: Methylation Specific PCR
- Disease Type: Genetic Disorders
