GNPAT Gene Rhizomelic Chondrodysplasia Punctata Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Skeletal Disorders
The GNPAT Gene Rhizomelic Chondrodysplasia Punctata Type 2 NGS Genetic DNA Test represents a breakthrough in pediatric genetic diagnostics, offering precise detection of mutations responsible for this rare skeletal dysplasia condition. Rhizomelic chondrodysplasia punctata type 2 (RCDP2) is an autosomal recessive peroxisomal disorder characterized by distinctive skeletal abnormalities, severe growth retardation, and neurological impairments.
What This Advanced Genetic Test Measures
This comprehensive NGS-based test specifically analyzes the GNPAT (glyceronephosphate O-acyltransferase) gene for pathogenic variants that disrupt normal peroxisomal function. The test detects:
- Point mutations and small insertions/deletions in the GNPAT gene
- Missense, nonsense, and frameshift mutations affecting protein function
- Variants that impair plasmalogen biosynthesis pathways
- Genetic alterations responsible for impaired bone development
Clinical Indications: Who Should Consider Testing
This genetic test is recommended for individuals presenting with:
- Rhizomelic shortening of proximal limbs (upper arms and thighs)
- Punctate calcifications in cartilage visible on X-rays
- Severe growth retardation and developmental delays
- Facial dysmorphism including flat nasal bridge and high forehead
- Joint contractures and spinal abnormalities
- Family history of skeletal dysplasia or consanguineous parents
- Unexplained cataracts in infancy
Significant Benefits of Early Genetic Diagnosis
Undergoing the GNPAT gene test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms RCDP2 and differentiates from other skeletal dysplasias
- Family Planning: Enables informed reproductive decisions and prenatal testing options
- Proactive Management: Facilitates early intervention strategies and specialized care
- Genetic Counseling: Provides comprehensive risk assessment for family members
- Research Contribution: Advances understanding of peroxisomal disorders
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your results:
- Positive Result: Identifies pathogenic variants confirming RCDP2 diagnosis
- Negative Result: No disease-causing mutations detected in GNPAT gene
- Variant of Uncertain Significance: Requires additional family studies for clarification
- Carrier Status: Identifies individuals with single copy of mutated gene
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
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, and San Jose. Our state-of-the-art laboratories maintain the highest standards of genetic testing accuracy and reliability.
Take Action for Genetic Clarity
Don’t let uncertainty about skeletal abnormalities affect your family’s future. Our comprehensive GNPAT gene testing provides the answers you need for informed medical decisions and peace of mind. Schedule your genetic counseling session and testing appointment today.
Call our genetic specialists at +1(267) 388-9828 to book your GNPAT Gene Rhizomelic Chondrodysplasia Punctata Type 2 NGS Genetic DNA Test. Our team is ready to guide you through the testing process and provide the expert support your family deserves.
