Prader-Willi Syndrome Karyotyping FISH Test
Comprehensive Genetic Diagnosis for Prader-Willi Syndrome
The Prader-Willi Syndrome Karyotyping FISH test represents a sophisticated genetic diagnostic approach that combines traditional chromosomal analysis with advanced molecular techniques. This comprehensive testing methodology provides healthcare providers with detailed insights into the genetic basis of Prader-Willi syndrome, a complex neurodevelopmental disorder affecting approximately 1 in 10,000 to 30,000 individuals worldwide.
What This Test Measures and Detects
This advanced genetic test specifically targets chromosome 15 abnormalities using two complementary techniques:
- Karyotyping Analysis: Provides a complete visual examination of chromosome structure, number, and arrangement
- Fluorescence In Situ Hybridization (FISH): Uses fluorescent probes to detect specific DNA sequences on chromosome 15
- Chromosome 15 Deletions: Identifies missing genetic material in the critical 15q11-q13 region
- Uniparental Disomy: Detects when both copies of chromosome 15 are inherited from one parent
- Imprinting Defects: Identifies abnormalities in the epigenetic regulation of chromosome 15 genes
Who Should Consider This Genetic Test
This diagnostic test is recommended for individuals presenting with characteristic symptoms of Prader-Willi syndrome:
- Infants and Newborns: Exhibiting severe hypotonia (poor muscle tone), feeding difficulties, and failure to thrive
- Children: Showing developmental delays, cognitive challenges, and behavioral issues
- Individuals with Hyperphagia: Experiencing insatiable appetite leading to obesity
- Patients with Hypogonadism: Displaying underdeveloped sexual characteristics
- Family History: Individuals with relatives diagnosed with Prader-Willi syndrome
- Unexplained Developmental Delays: Children with delayed milestones without clear cause
Clinical Benefits of Early Diagnosis
Early and accurate diagnosis through Prader-Willi Syndrome Karyotyping FISH testing provides numerous clinical advantages:
- Targeted Treatment Planning: Enables development of specialized care protocols
- Growth Hormone Therapy: Facilitates timely initiation of growth hormone treatment
- Nutritional Management: Supports implementation of controlled diet plans
- Behavioral Interventions: Allows early behavioral therapy and support
- Family Counseling: Provides genetic counseling for recurrence risk assessment
- Educational Planning: Supports appropriate educational accommodations
- Medical Monitoring: Enables proactive management of associated health complications
Understanding Your Test Results
Your genetic test results will provide clear information about chromosome 15 status:
- Normal Result: No abnormalities detected in chromosome 15 structure or number
- Deletion Detected: Missing genetic material in the 15q11-q13 region
- Uniparental Disomy: Both chromosome 15 copies inherited from one parent
- Imprinting Defect: Abnormal epigenetic regulation affecting gene expression
- Inconclusive Result: May require additional testing or follow-up evaluation
All results are accompanied by detailed interpretation from our certified genetic counselors and clinical geneticists to ensure proper understanding and next steps.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Prader-Willi Syndrome Karyotyping FISH | $206 USD | $276 USD |
Nationwide Testing Accessibility
We proudly offer Prader-Willi Syndrome Karyotyping FISH testing across our extensive network of diagnostic centers throughout the United States. Our state-of-the-art facilities are conveniently located in major metropolitan areas including:
- New York City and surrounding regions
- Los Angeles and Southern California
- Chicago and Illinois metropolitan area
- Houston and Texas Gulf Coast
- Phoenix and Arizona communities
- Philadelphia and Pennsylvania region
- San Antonio and South Texas
- San Diego and California border areas
- Dallas and North Texas
- San Jose and Silicon Valley
Sample Collection and Processing
Our testing process ensures accuracy and reliability:
- Sample Type: Peripheral blood collected in sodium heparin Vacutainer (2ml)
- Turnaround Time: 7-10 days from sample receipt
- Testing Methodology: Cell Culture combined with FISH analysis
- Quality Assurance: CLIA-certified laboratory standards
- Prescription Requirements: Doctor’s prescription required (exceptions for surgery, pregnancy, or international travel)
Take Action for Genetic Health
Don’t wait to get the answers you need for proper diagnosis and management. Our experienced genetic specialists are ready to assist you with comprehensive testing and personalized support.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your Prader-Willi Syndrome Karyotyping FISH test and take the first step toward accurate diagnosis and effective management.
Early genetic diagnosis can significantly improve quality of life and enable appropriate medical interventions. Trust our expertise in genetic testing to provide the clarity and guidance your family deserves.
