FISH Prader Willi Syndrome SNRPN Test
Comprehensive Genetic Testing for Prader-Willi Syndrome
The FISH Prader Willi Syndrome SNRPN Test represents a cutting-edge diagnostic approach in the field of medical genetics, specifically designed to identify chromosomal abnormalities associated with Prader-Willi syndrome. This sophisticated fluorescence in situ hybridization (FISH) technique provides clinicians with precise molecular information crucial for accurate diagnosis and subsequent patient management strategies.
What Does the FISH Prader Willi Syndrome SNRPN Test Detect?
This specialized genetic test specifically targets the SNRPN (Small Nuclear Ribonucleoprotein Polypeptide N) gene region located on chromosome 15 at position q11-q13. The test detects:
- Chromosomal deletions in the 15q11-q13 region
- Uniparental disomy (UPD) patterns
- Imprinting center defects
- Structural abnormalities affecting the SNRPN gene
- Paternal chromosome 15 deletions
Who Should Consider This Genetic Test?
The FISH Prader Willi Syndrome SNRPN Test is recommended for individuals displaying characteristic symptoms of Prader-Willi syndrome, including:
- Infants with severe hypotonia (poor muscle tone)
- Newborns experiencing feeding difficulties and failure to thrive
- Children with developmental delays and cognitive impairment
- Individuals with hyperphagia (excessive eating) and obesity
- Patients with hypogonadism and delayed puberty
- Children showing behavioral problems and obsessive-compulsive tendencies
- Individuals with short stature and small hands/feet
Clinical Benefits of Early Diagnosis
Early detection through the FISH Prader Willi Syndrome SNRPN Test provides numerous advantages:
- Enables early intervention and specialized care planning
- Facilitates appropriate growth hormone therapy initiation
- Supports development of personalized nutritional management
- Allows for behavioral intervention strategies
- Provides genetic counseling opportunities for families
- Helps prevent obesity-related complications
- Improves overall quality of life outcomes
Understanding Your Test Results
Your FISH Prader Willi Syndrome SNRPN Test results will be carefully interpreted by our board-certified genetic specialists:
- Normal Result: No deletion detected in the 15q11-q13 region
- Abnormal Result: Deletion present, consistent with Prader-Willi syndrome diagnosis
- Inconclusive Result: May require additional testing such as methylation analysis
All positive results are accompanied by comprehensive genetic counseling to help families understand the implications and develop appropriate management strategies.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $226 |
| Regular Price | $376 |
Nationwide Availability and Testing Process
GGC DNA maintains comprehensive testing facilities across the United States, with branches in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our standardized testing protocol ensures consistent, reliable results regardless of location.
Sample Requirements: 5 mL (3 mL minimum) whole blood collected in one Green Top (Sodium Heparin) tube. Samples must be shipped at 18-22°C and should never be frozen. The duly filled Chromosome & FISH analysis Requisition Form (Form 17) is mandatory for processing.
Turnaround Time: Samples received daily by 4 pm; Reports delivered within 4 working days.
Take Action Today
Don’t delay in obtaining crucial genetic information for proper diagnosis and management. Our experienced genetic counselors and pediatric specialists are ready to assist you throughout the testing process. Contact us today to schedule your FISH Prader Willi Syndrome SNRPN Test and take the first step toward comprehensive genetic understanding.
Book your test now by calling or WhatsApp: +1(267) 388-9828
Trust GGC DNA for accurate, reliable genetic testing with rapid turnaround times and expert interpretation. Our commitment to excellence in cytogenetic analysis ensures you receive the highest quality diagnostic services available.
