ENPP1 Gene Arterial Calcification Type 1 Generalized Infantile NGS Genetic DNA Test
Comprehensive Introduction to ENPP1 Genetic Testing
The ENPP1 Gene Arterial Calcification Type 1 Generalized Infantile NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the ENPP1 gene, which are responsible for Generalized Arterial Calcification of Infancy (GACI). This rare but serious genetic disorder affects infants and leads to abnormal calcium deposition in arterial walls, potentially causing life-threatening cardiovascular complications. Understanding the genetic basis of this condition is crucial for accurate diagnosis, appropriate medical management, and informed family planning decisions.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based test specifically targets the ENPP1 gene, which encodes ectonucleotide pyrophosphatase/phosphodiesterase 1. This enzyme plays a critical role in regulating extracellular pyrophosphate levels, essential for preventing abnormal calcification in blood vessels. The test identifies:
- Pathogenic variants and mutations in the ENPP1 gene
- Single nucleotide polymorphisms associated with arterial calcification
- Insertions, deletions, and copy number variations
- Compound heterozygous and homozygous mutations
- Novel variants with potential clinical significance
Who Should Consider ENPP1 Genetic Testing
This specialized genetic test is recommended for infants and children presenting with symptoms suggestive of GACI, including:
- Respiratory distress and breathing difficulties in infancy
- High blood pressure that develops early in life
- Cardiac murmurs or heart failure symptoms
- Poor feeding and failure to thrive
- Joint stiffness and limited mobility
- Family history of arterial calcification disorders
- Unexplained cardiovascular issues in infants
Significant Benefits of ENPP1 Genetic Testing
Undergoing ENPP1 genetic testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out GACI with high precision
- Early Intervention: Enables timely medical management strategies
- Family Planning: Provides crucial information for genetic counseling
- Treatment Guidance: Helps tailor specific therapeutic approaches
- Prognostic Information: Offers insights into disease progression
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Genetic Test Results
Our comprehensive genetic counseling support helps you interpret your ENPP1 test results:
- Positive Result: Indicates presence of pathogenic ENPP1 mutations, confirming GACI diagnosis
- Negative Result: Suggests absence of known pathogenic variants in the ENPP1 gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact
- Carrier Status: Determines if individuals carry one copy of a mutated gene
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
We proudly offer ENPP1 genetic testing services 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, San Jose, and many other cities. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take Action for Your Genetic Health
Don’t wait to get the answers you need about potential genetic conditions. Our ENPP1 Gene Arterial Calcification Type 1 Generalized Infantile NGS Genetic DNA Test provides comprehensive insights into this rare vascular disorder. Contact our genetic specialists today at +1(267) 388-9828 to schedule your test or discuss your genetic testing options. Early detection can make a significant difference in managing this condition effectively.
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-test Requirements: Clinical History and Genetic Counseling Session

