INVS Gene Nephronophthisis Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Kidney Disorders
The INVS Gene Nephronophthisis Type 2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals at risk of hereditary kidney diseases. This advanced next-generation sequencing test specifically targets the INVS (inversin) gene, which plays a critical role in kidney development and function. Mutations in this gene are directly linked to nephronophthisis type 2, a severe form of childhood kidney disease that can lead to end-stage renal failure if not detected early.
What Does This Test Measure?
Our comprehensive NGS genetic test analyzes the entire coding region of the INVS gene to identify pathogenic variants, including:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Splice site mutations affecting gene function
- Novel variants with potential clinical significance
The test utilizes state-of-the-art next-generation sequencing technology, providing unparalleled accuracy in detecting genetic abnormalities that conventional methods might miss.
Who Should Consider This Test?
This genetic test is particularly recommended for individuals experiencing:
- Unexplained kidney failure in childhood or adolescence
- Family history of nephronophthisis or juvenile kidney disease
- Excessive thirst and urination (polyuria and polydipsia)
- Growth retardation and developmental delays
- Anemia and fatigue related to kidney dysfunction
- Abnormal kidney ultrasound findings
- Progressive renal insufficiency without clear cause
Clinical Benefits of Genetic Testing
Early detection through genetic testing provides numerous advantages:
- Early Intervention: Enables proactive management before significant kidney damage occurs
- Personalized Treatment: Guides targeted therapeutic approaches based on genetic profile
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Disease Monitoring: Establishes baseline for ongoing kidney function assessment
- Preventive Care: Helps implement lifestyle modifications to preserve renal function
- Peace of Mind: Reduces uncertainty and anxiety through definitive diagnosis
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of findings:
- Positive Result: Indicates presence of pathogenic INVS gene mutation, confirming nephronophthisis type 2 diagnosis
- Negative Result: No disease-causing mutations detected, though clinical follow-up may still be recommended
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry one copy of mutated gene without disease symptoms
All results are accompanied by detailed explanations and recommendations for next steps, including referral to nephrology specialists and genetic counselors.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | INVS Gene Nephronophthisis Type 2 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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 optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Informed consent for genetic testing procedures
Nationwide Accessibility
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 easy access to genetic testing services regardless of your location.
Take Control of Your Kidney Health Today
Don’t let uncertainty about hereditary kidney conditions affect your quality of life. Early genetic testing can provide the answers you need to make informed healthcare decisions and implement effective management strategies. Our team of genetic specialists and nephrology experts are ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your INVS Gene Nephronophthisis Type 2 NGS Genetic DNA Test and take the first step toward understanding your genetic kidney health.
