WDR19 Gene Nephronophthisis Type 13 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Kidney Health
The WDR19 Gene Nephronophthisis Type 13 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited kidney disorders. This advanced test utilizes cutting-edge next-generation sequencing (NGS) technology to identify mutations in the WDR19 gene, which plays a crucial role in maintaining kidney structure and function. Nephronophthisis type 13 is a rare autosomal recessive disorder characterized by progressive kidney damage that typically manifests during childhood or adolescence, often leading to end-stage renal disease if left undiagnosed.
What Does This Test Detect?
This comprehensive genetic analysis specifically targets the WDR19 gene, which encodes a protein essential for proper ciliary function in kidney cells. The test identifies:
- Pathogenic variants and mutations in the WDR19 gene
- Single nucleotide polymorphisms (SNPs) associated with nephronophthisis
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations
- Novel genetic variants with potential clinical significance
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Unexplained chronic kidney disease in childhood or adolescence
- Excessive thirst and frequent urination (polyuria and polydipsia)
- Growth retardation and developmental delays
- Family history of nephronophthisis or inherited kidney disorders
- Abnormal kidney ultrasound findings
- Progressive renal insufficiency without clear cause
- Siblings of affected individuals for carrier screening
Clinical Benefits and Importance
Early detection through genetic testing provides numerous advantages:
- Accurate Diagnosis: Confirms nephronophthisis type 13 with high precision
- Personalized Treatment: Enables targeted management strategies
- Family Planning: Provides crucial information for genetic counseling
- Early Intervention: Allows proactive monitoring and treatment
- Prognostic Information: Helps predict disease progression
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and medical professionals:
- Positive Result: Indicates the presence of pathogenic WDR19 mutations, confirming nephronophthisis type 13 diagnosis
- Negative Result: Suggests absence of known pathogenic variants, though does not completely rule out the condition
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Detects individuals with one mutated copy who may pass the condition to offspring
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our network of certified laboratories and collection centers ensures accessible testing for patients nationwide.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need about your genetic health. Our experienced team of genetic counselors and medical professionals are ready to guide you through the testing process and help you understand your results. Early detection and proper management can significantly impact treatment outcomes and quality of life.
Call us now at +1(267) 388-9828 to schedule your genetic counseling session and book your WDR19 Gene Nephronophthisis Type 13 NGS Genetic DNA Test. Take the first step toward understanding your genetic health and making informed medical decisions.
