ZNF423 Gene Nephronophthisis Type 14 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Inherited Kidney Disorders
The ZNF423 Gene Nephronophthisis Type 14 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals and families affected by inherited kidney conditions. This specialized test utilizes next-generation sequencing technology to identify mutations in the ZNF423 gene, which plays a critical role in kidney development and function. Nephronophthisis type 14 is a rare autosomal recessive disorder characterized by progressive kidney damage that typically manifests in childhood or adolescence, often leading to end-stage renal disease.
What This Test Measures and Detects
Our advanced NGS genetic testing specifically targets the ZNF423 gene to identify pathogenic variants associated with nephronophthisis type 14. The test examines:
- Complete coding regions of the ZNF423 gene
- Exon-intron boundaries for splice site mutations
- Copy number variations and structural rearrangements
- Known pathogenic mutations documented in medical literature
- Novel variants of uncertain significance with clinical correlation
The ZNF423 gene encodes a zinc finger protein that functions as a transcription factor involved in kidney development and ciliary function. Mutations in this gene disrupt normal renal tubule formation and maintenance, leading to the characteristic features of nephronophthisis.
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with:
- Unexplained chronic kidney disease in childhood or adolescence
- Family history of nephronophthisis or inherited kidney disorders
- Progressive renal failure without clear etiology
- Associated symptoms including polyuria, polydipsia, and growth retardation
- Extra-renal manifestations such as liver fibrosis or skeletal abnormalities
- Consanguineous parents or siblings with similar renal symptoms
- Abnormal renal ultrasound showing small, hyperechoic kidneys with cysts
Clinical Benefits of Genetic Testing
Undergoing the ZNF423 Gene Nephronophthisis Type 14 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out nephronophthisis type 14 with high precision
- Early Intervention: Enables proactive management before significant kidney damage occurs
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches based on genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Reduced Diagnostic Odyssey: Minimizes unnecessary testing and medical procedures
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results with clinical context:
- Positive Result: Identifies pathogenic mutations in the ZNF423 gene, confirming nephronophthisis type 14 diagnosis
- Negative Result: No disease-causing mutations detected, though does not completely rule out other genetic causes
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results include detailed explanations and recommendations for follow-up care, including referral to nephrology and genetic counseling services.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| ZNF423 Gene Nephronophthisis Type 14 NGS Genetic DNA Test – Discount Price | $500 |
| ZNF423 Gene Nephronophthisis Type 14 NGS Genetic DNA Test – Regular Price | $700 |
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 more. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about inherited kidney conditions impact your health decisions. Our ZNF423 Gene Nephronophthisis Type 14 NGS Genetic DNA Test provides the clarity you need for informed medical management. With results delivered in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card, getting tested has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to answer your questions and guide you through the testing process.
Remember to bring your clinical history and be prepared for a genetic counseling session to create a detailed family pedigree chart. Early genetic testing can make a significant difference in managing nephronophthisis type 14 and preserving kidney function.
