PKHD1 Gene Polycystic Kidney and Hepatic Disease NGS Genetic DNA Test
Comprehensive Genetic Screening for Kidney and Liver Health
The PKHD1 Gene Polycystic Kidney and Hepatic Disease NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals at risk of autosomal recessive polycystic kidney disease (ARPKD). This sophisticated next-generation sequencing analysis provides critical insights into inherited kidney and liver conditions that can significantly impact quality of life and long-term health outcomes.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based screening specifically targets mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene, which encodes the protein fibrocystin. This crucial protein plays a vital role in maintaining the structural integrity of renal tubules and bile ducts. When mutations occur in the PKHD1 gene, they disrupt normal cellular function, leading to the development of fluid-filled cysts in both kidneys and liver.
- Identifies pathogenic variants in the PKHD1 gene
- Detects autosomal recessive inheritance patterns
- Screens for mutations causing progressive renal dysfunction
- Identifies genetic markers for congenital hepatic fibrosis
- Provides comprehensive analysis of all coding regions
Who Should Consider PKHD1 Genetic Testing?
Clinical Indications and Symptoms
This specialized genetic test is particularly important for individuals experiencing or at risk for:
- Family history of polycystic kidney disease, especially in siblings
- Unexplained kidney enlargement in infants or children
- Progressive renal insufficiency without clear cause
- Hepatic fibrosis or liver complications alongside kidney issues
- Planning pregnancy with family history of ARPKD
- Unexplained hypertension in childhood
- Abnormal prenatal ultrasound showing enlarged kidneys
- Chronic kidney disease of unknown origin
Significant Benefits of PKHD1 Genetic Testing
Transformative Healthcare Insights
Undergoing PKHD1 genetic testing provides numerous advantages for patients and healthcare providers:
- Early Intervention Opportunities: Identify at-risk individuals before significant organ damage occurs
- Personalized Treatment Planning: Develop targeted management strategies based on genetic profile
- Family Planning Guidance: Make informed reproductive decisions with comprehensive genetic counseling
- Proactive Monitoring: Implement appropriate surveillance for kidney and liver function
- Accurate Diagnosis: Differentiate ARPKD from other forms of polycystic kidney disease
- Reduced Diagnostic Uncertainty: Provide definitive answers for complex clinical presentations
Understanding Your Test Results
Comprehensive Result Interpretation
Our detailed genetic analysis provides clear, actionable information:
- Positive Result: Indicates presence of pathogenic PKHD1 mutations, confirming ARPKD diagnosis and enabling proactive management
- Negative Result: No disease-causing mutations detected, though clinical correlation with symptoms remains important
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation and family studies
- Carrier Status: Determines if individuals carry one copy of mutated gene without disease manifestation
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | PKHD1 Gene Polycystic Kidney and Hepatic Disease 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 |
Convenient Nationwide Access
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 comprehensive network ensures accessible genetic testing services regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about inherited kidney and liver conditions impact your health decisions. Our PKHD1 genetic testing provides the clarity needed for informed medical choices and proactive health management. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic diagnostics with confidence.
Ready to schedule your PKHD1 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.
Take the first step toward understanding your genetic risk factors and securing better health outcomes for yourself and your family. Call now to schedule your comprehensive PKHD1 genetic screening.
