CHRND Gene Multiple Pterygium Syndrome Lethal Type NGS Genetic DNA Test
Comprehensive Genetic Testing for Lethal Multiple Pterygium Syndrome
The CHRND Gene Multiple Pterygium Syndrome Lethal Type NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the CHRND gene, which are responsible for lethal multiple pterygium syndrome. This rare genetic disorder affects neuromuscular development and skeletal formation, presenting significant challenges for affected families and healthcare providers.
What This Advanced Genetic Test Detects
Our specialized NGS (Next-Generation Sequencing) test specifically targets the CHRND gene, which encodes the delta subunit of the acetylcholine receptor. This receptor plays a critical role in neuromuscular junction function and skeletal muscle development. The test identifies:
- Pathogenic variants in the CHRND gene sequence
- Mutations affecting acetylcholine receptor function
- Genetic abnormalities leading to lethal multiple pterygium syndrome
- Inheritance patterns for family planning purposes
Who Should Consider This Genetic Test
This comprehensive genetic evaluation is recommended for individuals and families experiencing:
- Family history of multiple pterygium syndrome
- Congenital contractures and joint abnormalities
- Webbing of skin across multiple joints (pterygia)
- Severe skeletal development issues
- Respiratory complications at birth
- Previous pregnancy losses with skeletal abnormalities
- Unexplained neonatal deaths with contractures
Significant Benefits of Genetic Testing
Undergoing the CHRND gene test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out lethal multiple pterygium syndrome
- Family Planning Guidance: Enables informed reproductive decisions
- Early Intervention: Facilitates appropriate medical management
- Genetic Counseling: Provides comprehensive family risk assessment
- Peace of Mind: Reduces uncertainty about genetic risks
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your CHRND gene test results:
- Positive Result: Indicates presence of pathogenic CHRND gene mutation, confirming diagnosis of lethal multiple pterygium syndrome
- Negative Result: Suggests absence of detectable mutations in the CHRND gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of the mutated gene
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Sample Requirements
| Test Component | Details | Price (USD) |
|---|---|---|
| Discount Price | Limited time offer | $500 |
| Regular Price | Standard pricing | $700 |
| Turnaround Time | Results delivery | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or FTA Card | Included |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Pre-Test Preparation Requirements
Before undergoing the CHRND gene test, patients should complete:
- Comprehensive clinical history documentation
- Genetic counseling session with certified genetic counselor
- Family pedigree chart development
- Discussion of testing implications and potential outcomes
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic risks affect your family’s future. Our advanced CHRND Gene Multiple Pterygium Syndrome Lethal Type NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With our discounted price of only $500 USD and comprehensive genetic counseling support, you can gain valuable insights into your genetic health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test appointment or to speak with our genetic specialists about your testing needs.
Our team of experienced genetic counselors and laboratory specialists is ready to provide the comprehensive testing and support your family deserves. Book your test now and take the first step toward understanding your genetic health with confidence and clarity.
