PKHD1 Gene Polycystic Kidney Disease Type 1 Autosomal Recessive NGS Genetic DNA Test
Comprehensive Genetic Testing for Autosomal Recessive Polycystic Kidney Disease
The PKHD1 Gene Polycystic Kidney Disease Type 1 Autosomal Recessive NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for kidney disorders. This advanced testing method utilizes next-generation sequencing technology to identify mutations in the PKHD1 gene, which is responsible for autosomal recessive polycystic kidney disease (ARPKD). Early detection through this test can significantly impact treatment outcomes and quality of life for affected individuals and their families.
What Does This Test Measure and Detect?
This comprehensive genetic test specifically targets the PKHD1 gene, which encodes the protein fibrocystin. The test detects:
- Pathogenic variants and mutations in the PKHD1 gene
- Single nucleotide polymorphisms (SNPs) associated with ARPKD
- Deletions, insertions, and other structural variations
- Compound heterozygous mutations that cause disease manifestation
- Carrier status for autosomal recessive inheritance patterns
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals experiencing:
- Unexplained kidney enlargement in infants or children
- Family history of polycystic kidney disease
- Congenital hepatic fibrosis or liver complications
- Recurrent urinary tract infections in childhood
- Hypertension in young patients
- Couples with previous child affected by ARPKD
- Individuals from families with known PKHD1 mutations
- Patients with unexplained kidney failure in childhood
Key Benefits of PKHD1 Genetic Testing
Undergoing this genetic test provides numerous advantages:
- Early Diagnosis: Enables proactive management before severe complications develop
- Family Planning: Provides crucial information for reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches
- Risk Assessment: Identifies carrier status in family members
- Peace of Mind: Reduces uncertainty about genetic predisposition
- Comprehensive Analysis: Utilizes advanced NGS technology for accurate results
Understanding Your Test Results
Your genetic test results will fall into one of several categories:
- Positive Result: Indicates the presence of pathogenic mutations in both PKHD1 gene copies, confirming ARPKD diagnosis
- Carrier Status: Shows mutation in one gene copy, indicating carrier status without disease manifestation
- Negative Result: No pathogenic mutations detected, significantly reducing ARPKD risk
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
All results are accompanied by detailed interpretation from our genetic specialists, and we strongly recommend genetic counseling to fully understand the implications for you and your family.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | PKHD1 Gene Polycystic Kidney Disease Type 1 Autosomal Recessive 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 |
| Specialty | Genetics, Hepatology, Nephrology, Endocrinology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of test implications with healthcare provider
- Understanding of potential outcomes and their significance
Nationwide Accessibility
We have testing facilities conveniently located across the United States, serving 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 testing services regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic risks affect your health decisions. Our PKHD1 genetic test provides the clarity you need to make informed choices about your kidney health and family planning. With our discounted price of $500 USD and comprehensive genetic analysis, you’re investing in peace of mind and proactive healthcare.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and protecting your family’s future.
