PRKD1 Gene Congenital Heart Defects and Ectodermal Dysplasia NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Disorders
The PRKD1 Gene Congenital Heart Defects and Ectodermal Dysplasia NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with complex developmental disorders. This specialized test focuses on the PRKD1 gene, which plays a critical role in embryonic development and cellular signaling pathways. Mutations in this gene have been linked to a spectrum of congenital abnormalities affecting both cardiovascular and ectodermal systems.
What Does This Test Measure?
Our advanced NGS technology provides comprehensive analysis of the PRKD1 gene to detect:
- Point mutations and single nucleotide variants
- Small insertions and deletions (indels)
- Copy number variations affecting the PRKD1 locus
- Structural rearrangements within the gene region
- Pathogenic variants associated with congenital heart disease
- Mutations linked to ectodermal dysplasia manifestations
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Unexplained congenital heart defects including septal defects, valve abnormalities, or complex cardiac malformations
- Developmental abnormalities affecting skin, hair, nails, or teeth
- Family history of PRKD1-related disorders or similar genetic conditions
- Multiple congenital anomalies involving both cardiac and ectodermal systems
- Unexplained developmental delays with cardiac involvement
- Previous inconclusive genetic testing for congenital disorders
Clinical Benefits of PRKD1 Genetic Testing
Undergoing PRKD1 genetic testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive genetic confirmation for complex clinical presentations
- Family Planning Guidance: Enables informed reproductive decisions through understanding inheritance patterns
- Personalized Medical Management: Guides specialized cardiac and dermatological care based on genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention Opportunities: Facilitates timely medical and surgical interventions when indicated
- Psychological Relief: Reduces diagnostic uncertainty and provides closure for families
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your PRKD1 test results:
- Positive Result: Indicates the presence of a pathogenic PRKD1 mutation. Our genetic counselors will explain the specific variant, inheritance pattern, and implications for medical management.
- Negative Result: Suggests no disease-causing PRKD1 mutations were detected. However, other genetic or environmental factors may still contribute to symptoms.
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical impact. Ongoing research may provide additional insights over time.
- Carrier Status: Determines if you carry a single copy of a PRKD1 mutation, which may have implications for family planning.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | PRKD1 Gene Congenital Heart Defects and Ectodermal Dysplasia NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Nationwide Testing Availability
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, San Jose, and many other cities. Our network of certified genetic counselors and medical professionals ensures consistent, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our PRKD1 genetic testing provides the answers you need for informed medical care and family planning. With our discounted price of $500 USD and comprehensive genetic counseling services, you’ll receive expert guidance every step of the way.
Ready to schedule your 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 help you understand the testing process.
