Prader-Willi Syndrome Mutation Detection Methylation Specific PCR Test
Comprehensive Genetic Testing for Prader-Willi Syndrome
The Prader-Willi Syndrome Mutation Detection Methylation Specific PCR Test represents a cutting-edge approach to diagnosing one of the most complex genetic disorders affecting neurological development and metabolic function. This specialized molecular diagnostic test provides definitive answers for families and healthcare providers seeking to understand and manage Prader-Willi Syndrome effectively.
What is Prader-Willi Syndrome?
Prader-Willi Syndrome is a rare genetic disorder caused by the loss of function of specific genes on chromosome 15. This condition affects approximately 1 in 10,000 to 30,000 individuals worldwide and presents with distinct clinical features that evolve throughout life. The syndrome is characterized by a unique combination of physical, mental, and behavioral symptoms that require specialized medical management.
What Does This Test Detect?
Our advanced methylation-specific PCR test specifically identifies:
- Genetic deletions in the paternal chromosome 15q11-q13 region
- Maternal uniparental disomy (both chromosomes 15 inherited from the mother)
- Epigenetic imprinting defects affecting gene expression
- Abnormal methylation patterns in the Prader-Willi critical region
Scientific Methodology
The test utilizes methylation-specific polymerase chain reaction (MS-PCR) technology, which is considered the gold standard for Prader-Willi Syndrome diagnosis. This sophisticated technique examines the methylation status of the SNRPN gene locus, providing highly accurate detection of genetic abnormalities with over 99% sensitivity and specificity.
Who Should Consider This Test?
Infants and Newborns
- Babies exhibiting severe hypotonia (poor muscle tone)
- Infants with feeding difficulties and failure to thrive
- Newborns with weak cry and lethargy
- Babies showing underdeveloped genitalia in males
Children and Adolescents
- Children developing excessive appetite and weight gain
- Individuals with developmental delays and learning disabilities
- Children showing behavioral problems and temper tantrums
- Those with short stature and small hands/feet
Adults and Family Planning
- Adults with unexplained obesity and cognitive impairment
- Individuals with suspected genetic disorders
- Families with history of Prader-Willi Syndrome
- Couples planning pregnancy with genetic concerns
Key Benefits of Genetic Testing
- Early Intervention: Enables timely implementation of specialized care and management strategies
- Accurate Diagnosis: Provides definitive confirmation of Prader-Willi Syndrome
- Family Planning: Offers genetic counseling opportunities for future pregnancies
- Personalized Treatment: Guides development of individualized medical and behavioral interventions
- Peace of Mind: Eliminates diagnostic uncertainty for families and healthcare providers
Understanding Your Test Results
Positive Result
A positive test result confirms the diagnosis of Prader-Willi Syndrome. This finding indicates abnormalities in chromosome 15 that disrupt normal genetic function. Your healthcare provider will discuss comprehensive management strategies, including:
- Growth hormone therapy considerations
- Nutritional management plans
- Behavioral intervention strategies
- Educational support requirements
- Long-term medical monitoring
Negative Result
A negative result indicates that Prader-Willi Syndrome genetic abnormalities were not detected. However, clinical evaluation remains important, as symptoms may be caused by other genetic or medical conditions. Further testing may be recommended based on clinical presentation.
Inconclusive Results
In rare cases, results may be inconclusive due to technical factors or complex genetic patterns. Additional testing or repeat analysis may be necessary to provide definitive answers.
Test Pricing and Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $276 |
| Regular Price | $450 |
| Test Name | Prader-Willi Syndrome Mutation Detection Methylation Specific PCR Test |
| Turnaround Time | Sample by 11 am; Report in 12 Working Days |
| Sample Type | 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube |
Sample Collection Instructions
- Collect 4 mL minimum whole blood in EDTA tube (lavender top)
- Ship samples refrigerated – DO NOT FREEZE
- Complete Genomics Clinical Information Requisition Form (Form 20)
- Ensure proper patient identification and labeling
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our network ensures accessible genetic testing services for families throughout the country.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s wellbeing. Our Prader-Willi Syndrome Mutation Detection Test provides the definitive answers you need for proper diagnosis and management. With our specialized molecular diagnostics expertise and nationwide availability, we make genetic testing accessible and reliable.
Call us today at +1(267) 388-9828 to schedule your appointment or speak with our genetic counseling team. Take control of your genetic health with confidence and precision.
