WASHC5 Gene Ritscher-Schinzel Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Developmental Disorders
The WASHC5 Gene Ritscher-Schinzel Syndrome Type 1 NGS Genetic DNA Test represents a significant advancement in molecular diagnostics for rare genetic conditions. This specialized test employs state-of-the-art Next-Generation Sequencing technology to identify mutations in the WASHC5 gene, which plays a crucial role in cellular processes and neurological development. Ritscher-Schinzel Syndrome Type 1, also known as 3C syndrome (cranio-cerebello-cardiac syndrome), is a rare autosomal recessive disorder characterized by distinctive physical features and multiple system involvement.
What This Test Measures and Detects
Our comprehensive NGS-based analysis specifically targets the WASHC5 gene to identify:
- Pathogenic variants and mutations in the WASHC5 gene
- Single nucleotide polymorphisms (SNPs) associated with disease manifestation
- Insertions, deletions, and other structural variations
- Compound heterozygous mutations in autosomal recessive inheritance patterns
- Novel genetic variants with potential clinical significance
The test provides complete coverage of the WASHC5 gene coding regions, splice sites, and regulatory elements to ensure comprehensive mutation detection with exceptional accuracy exceeding 99.9%.
Who Should Consider This Genetic Test
This specialized genetic analysis is recommended for individuals presenting with:
- Characteristic craniofacial abnormalities including cleft palate, hypertelorism, or micrognathia
- Congenital heart defects such as ventricular septal defects or complex cardiac anomalies
- Cerebellar malformations including Dandy-Walker malformation or cerebellar hypoplasia
- Developmental delay and intellectual disability of unknown etiology
- Family history suggestive of autosomal recessive inheritance patterns
- Multiple congenital anomalies affecting different organ systems
- Unexplained growth retardation or failure to thrive in infancy
Clinical Benefits and Applications
Undergoing the WASHC5 Gene Ritscher-Schinzel Syndrome Type 1 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Ritscher-Schinzel Syndrome Type 1 with high precision
- Personalized Treatment Planning: Enables targeted interventions and specialized care approaches
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Early Intervention: Facilitates timely management of associated medical complications
- Research Contribution: Advances understanding of rare genetic disorders and potential therapies
- Peace of Mind: Reduces diagnostic uncertainty and provides clear answers for families
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation and clinical correlation:
- Positive Result: Identifies pathogenic mutations in the WASHC5 gene, confirming diagnosis of Ritscher-Schinzel Syndrome Type 1
- Negative Result: No disease-causing mutations detected, though other genetic causes should be considered
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Identifies individuals with single mutated copy who may pass the condition to offspring
All results are accompanied by detailed clinical interpretation and recommendations from our board-certified genetic specialists. Genetic counseling is strongly recommended to fully understand the implications of your test results.
Test Pricing and Availability
| Test Description | Price (USD) |
|---|---|
| WASHC5 Gene Ritscher-Schinzel Syndrome Type 1 NGS Genetic DNA Test – Discount Price | $500 |
| WASHC5 Gene Ritscher-Schinzel Syndrome Type 1 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient 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 state-of-the-art laboratories maintain the highest standards of quality and accuracy in genetic analysis.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our WASHC5 Gene Ritscher-Schinzel Syndrome Type 1 NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With our discounted price of only $500 USD and comprehensive genetic analysis, you can gain valuable insights into your genetic health.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
