LIFR Gene Stuve-Wiedemann Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Skeletal Disorders
The LIFR Gene Stuve-Wiedemann Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare skeletal conditions. This advanced test utilizes cutting-edge next-generation sequencing technology to identify mutations in the LIFR (Leukemia Inhibitory Factor Receptor) gene, which plays a critical role in bone development and temperature regulation. Stuve-Wiedemann syndrome is a severe autosomal recessive disorder characterized by skeletal abnormalities, respiratory complications, and autonomic nervous system dysfunction.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the LIFR gene located on chromosome 5p13.1, identifying pathogenic variants including:
- Point mutations affecting protein function
- Frameshift mutations disrupting gene reading
- Nonsense mutations creating premature stop codons
- Missense mutations altering amino acid sequences
- Small insertions and deletions affecting gene structure
The test provides complete sequencing coverage of all coding regions and critical regulatory elements of the LIFR gene, ensuring comprehensive mutation detection with exceptional accuracy exceeding 99.9%.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with clinical features suggestive of Stuve-Wiedemann syndrome, including:
- Infants with skeletal abnormalities: Bowing of long bones, camptodactyly, or joint contractures
- Temperature regulation issues: Episodes of hyperthermia or hypothermia without infection
- Respiratory complications: Breathing difficulties, apnea episodes, or recurrent pneumonia
- Feeding difficulties: Poor sucking reflex, swallowing problems, or failure to thrive
- Facial dysmorphism: Prominent eyes, micrognathia, or distinctive facial features
- Family history: Siblings or relatives with confirmed Stuve-Wiedemann syndrome diagnosis
Clinical Benefits of Genetic Testing
Undergoing the LIFR Gene Stuve-Wiedemann Syndrome NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Stuve-Wiedemann syndrome with definitive genetic evidence
- Early Intervention: Enables prompt implementation of specialized care and management strategies
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Treatment Optimization: Guides appropriate therapeutic approaches based on specific genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Contributes to scientific understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our board-certified genetic specialists and delivered with comprehensive explanations:
- Positive Result: Indicates the presence of pathogenic mutations in the LIFR gene, confirming Stuve-Wiedemann syndrome diagnosis
- Negative Result: Suggests no disease-causing mutations were detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if an individual carries one copy of a mutated gene without showing symptoms
All results include detailed clinical interpretation, management recommendations, and access to genetic counseling services to help you understand the implications for your health and family.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| LIFR Gene Stuve-Wiedemann Syndrome NGS Genetic DNA Test | $700 |
| Discount Price | $500 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic testing centers ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our expert team of genetic counselors and medical specialists are ready to guide you through the testing process and provide the answers you need. Early genetic diagnosis can significantly impact treatment outcomes and quality of life for individuals with Stuve-Wiedemann syndrome.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your LIFR Gene Stuve-Wiedemann Syndrome NGS Genetic DNA Test. Take control of your genetic health with confidence and professional support.
