NPHS1 Gene Nephrotic Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Kidney Disorders
The NPHS1 Gene Nephrotic Syndrome Type 2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for kidney health. This advanced test specifically targets mutations in the NPHS1 gene, which encodes nephrin—a critical protein component of the kidney’s filtration barrier. When this gene malfunctions, it leads to congenital nephrotic syndrome, a severe kidney condition characterized by massive protein loss in urine and progressive renal damage.
What Does This Test Measure and Detect?
Our state-of-the-art Next-Generation Sequencing (NGS) technology comprehensively analyzes the NPHS1 gene to identify:
- Point mutations and single nucleotide variants
- Insertions and deletions affecting gene function
- Copy number variations and structural abnormalities
- Pathogenic variants associated with nephrotic syndrome type 2
- Inheritance patterns for family planning decisions
Who Should Consider This Genetic Test?
This specialized genetic analysis is recommended for individuals experiencing:
- Unexplained proteinuria (protein in urine) in infants or children
- Persistent swelling (edema) in face, abdomen, or extremities
- Family history of congenital nephrotic syndrome
- Recurrent kidney infections with protein loss
- Poor growth and development in children with kidney symptoms
- Previous diagnosis of steroid-resistant nephrotic syndrome
- Planning pregnancy with family history of kidney disorders
Significant Benefits of NPHS1 Genetic Testing
Early genetic detection provides numerous advantages for patients and families:
- Early Intervention: Enables prompt treatment before significant kidney damage occurs
- Personalized Treatment: Guides targeted therapy based on specific genetic mutations
- Family Planning: Provides crucial information for reproductive decisions
- Prognostic Information: Helps predict disease progression and outcomes
- Reduced Diagnostic Uncertainty: Eliminates prolonged diagnostic odyssey
- Comprehensive Care Planning: Facilitates multidisciplinary management approach
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Indicates presence of NPHS1 gene mutation; consult with nephrologist and genetic counselor for management plan
- Negative Result: No detected mutations in NPHS1 gene; consider additional testing for other nephrotic syndrome genes
- Variant of Uncertain Significance: Genetic change identified but clinical significance unknown; requires clinical correlation
- Carrier Status: Identifies individuals who carry one copy of mutation but may not show symptoms
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | NPHS1 Gene Nephrotic Syndrome Type 2 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 |
Pre-Test Requirements
To ensure accurate results and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session with our specialists
- Detailed pedigree chart of family members affected by kidney disorders
- Current medication and treatment history
- Previous laboratory and imaging results
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities 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 easy access to this vital genetic testing service.
Take Control of Your Kidney Health Today
Don’t let uncertainty about inherited kidney conditions affect your health decisions. Our NPHS1 Gene Nephrotic Syndrome Type 2 NGS Genetic DNA Test provides the clarity you need for informed medical choices and proactive health management.
Call us now at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our expert genetic counselors are available to answer your questions and guide you through the testing process.
Early detection through genetic testing can significantly improve outcomes for individuals with inherited kidney disorders. Take the first step toward comprehensive kidney health management by scheduling your NPHS1 genetic test today.
