TTC21B Gene Nephronophthisis Type 12 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Kidney Disorders
The TTC21B Gene Nephronophthisis Type 12 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations responsible for nephronophthisis type 12, a rare autosomal recessive kidney disorder. This sophisticated genetic analysis utilizes next-generation sequencing technology to provide precise detection of pathogenic variants in the TTC21B gene, enabling early intervention and personalized management strategies for affected individuals and their families.
What Does This Test Measure and Detect?
This comprehensive genetic test specifically targets the TTC21B gene, which encodes the tetratricopeptide repeat domain 21B protein. The test identifies:
- Pathogenic mutations in the TTC21B gene associated with nephronophthisis type 12
- Single nucleotide variants (SNVs) and small insertions/deletions (indels)
- Compound heterozygous or homozygous mutations
- Novel genetic variants with potential clinical significance
- Carrier status for family members
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Unexplained chronic kidney disease in childhood or adolescence
- Family history of nephronophthisis or inherited kidney disorders
- Progressive renal impairment with tubular dysfunction
- Extrarenal manifestations including liver fibrosis or skeletal abnormalities
- Consanguineous parentage with renal disease history
- Unexplained end-stage renal disease requiring transplantation
Clinical Benefits of TTC21B Genetic Testing
Undergoing this genetic analysis provides numerous clinical advantages:
- Early Diagnosis: Enables prompt identification before significant renal damage occurs
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Management: Guides targeted treatment approaches and monitoring protocols
- Prognostic Information: Helps predict disease progression and potential complications
- Carrier Detection: Identifies asymptomatic carriers within families
- Therapeutic Guidance: Informs appropriate interventions to preserve kidney function
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and nephrologists:
- Positive Result: Indicates the presence of pathogenic TTC21B mutations confirming nephronophthisis type 12 diagnosis
- Negative Result: Suggests absence of detectable mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Reveals heterozygous mutations without disease manifestation
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Pricing and Availability
| Test Component | Price (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 major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Take Control of Your Genetic Health Today
Don’t wait to gain crucial insights into your genetic predisposition for kidney disorders. Our expert team of genetic counselors and nephrology specialists are ready to guide you through the testing process and help you understand your results. Early detection through genetic testing can significantly impact treatment outcomes and quality of life.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your TTC21B Gene Nephronophthisis Type 12 NGS Genetic DNA Test and take the first step toward personalized medical care.
Our comprehensive testing service includes pre-test genetic counseling, advanced NGS analysis, detailed result interpretation, and post-test counseling to ensure you have all the information needed for informed healthcare decisions.
