AGPS Gene Rhizomelic Chondrodysplasia Punctata Type 3 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Skeletal Disorders
The AGPS Gene Rhizomelic Chondrodysplasia Punctata Type 3 NGS Genetic DNA Test represents a breakthrough in diagnostic precision for families affected by rare genetic skeletal conditions. This advanced next-generation sequencing test specifically targets mutations in the AGPS (alkylglycerone phosphate synthase) gene, which plays a critical role in plasmalogen biosynthesis—essential lipid components crucial for normal skeletal development and neurological function.
What This Test Measures and Detects
Our comprehensive NGS-based analysis examines the entire coding region of the AGPS gene to identify pathogenic variants responsible for Rhizomelic Chondrodysplasia Punctata Type 3 (RCDP3). The test specifically detects:
- Point mutations, insertions, and deletions in the AGPS gene
- Missense, nonsense, and frameshift variants affecting enzyme function
- Splice site mutations that disrupt normal gene expression
- Compound heterozygous or homozygous inheritance patterns
- Novel variants of uncertain significance with detailed interpretation
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with clinical features suggestive of Rhizomelic Chondrodysplasia Punctata, including:
- Infants with rhizomelic (proximal) shortening of limbs
- Presence of punctate calcifications on radiographic imaging
- Severe growth retardation and developmental delays
- Characteristic facial features including frontal bossing and depressed nasal bridge
- Joint contractures and ichthyosis (scaly skin)
- Family history of similar skeletal abnormalities
- Cataracts or other ocular abnormalities in infancy
Clinical Benefits of Early Genetic Diagnosis
Obtaining a precise genetic diagnosis through AGPS gene testing provides numerous clinical advantages:
- Accurate Prognostic Information: Understanding the specific genetic variant helps predict disease progression and potential complications
- Targeted Management Strategies: Enables development of personalized care plans addressing skeletal, neurological, and developmental needs
- Reproductive Planning: Provides crucial information for family planning decisions and prenatal testing options
- Early Intervention: Facilitates timely implementation of physical therapy, nutritional support, and developmental services
- Genetic Counseling: Helps families understand inheritance patterns and recurrence risks
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your AGPS gene analysis:
- Positive Result: Identification of pathogenic variants confirms diagnosis of RCDP3 and enables targeted management
- Negative Result: Absence of detectable AGPS mutations may suggest alternative diagnoses requiring further evaluation
- Variant of Uncertain Significance: Novel genetic changes require correlation with clinical findings and family studies
- Carrier Status: Identification of heterozygous carriers provides important information for genetic counseling
All results include detailed clinical correlations and recommendations for follow-up care from our board-certified genetic specialists.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | AGPS Gene Rhizomelic Chondrodysplasia Punctata Type 3 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Method | Next-Generation Sequencing (NGS) |
Nationwide Accessibility and Support
We maintain comprehensive genetic testing facilities across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic services for families throughout the country.
Before testing, we recommend a genetic counseling session to discuss clinical history and create a detailed pedigree chart documenting family members affected by similar conditions. This preparatory step enhances the diagnostic yield and ensures appropriate test interpretation.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your genetic health prevent you from accessing the care and information your family deserves. Our specialized pediatric genetics team is ready to guide you through the testing process and provide comprehensive support.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book the AGPS Gene Rhizomelic Chondrodysplasia Punctata Type 3 NGS Genetic DNA Test. Take advantage of our special pricing at only $500 USD and begin your journey toward genetic understanding and improved healthcare management.
