CLDN19 Gene Hypomagnesemia Type 5 NGS Genetic DNA Test
Comprehensive Genetic Testing for Kidney Magnesium Disorders
The CLDN19 Gene Hypomagnesemia Type 5 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited kidney disorders. This advanced test specifically targets mutations in the CLDN19 gene, which plays a crucial role in maintaining proper magnesium balance and kidney function. Hypomagnesemia type 5, also known as familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), is a rare autosomal recessive disorder that can lead to severe kidney complications if left undiagnosed.
What Does This Test Measure?
This comprehensive genetic analysis utilizes next-generation sequencing (NGS) technology to examine the complete coding region of the CLDN19 gene. The test specifically detects:
- Point mutations, deletions, and insertions in the CLDN19 gene
- Genetic variations affecting claudin-19 protein function
- Mutations responsible for impaired renal magnesium reabsorption
- Genetic markers associated with progressive kidney damage
- Inheritance patterns for family planning purposes
Who Should Consider This Test?
This genetic test is particularly important for individuals experiencing:
- Unexplained persistent hypomagnesemia (low magnesium levels)
- Recurrent kidney stones or nephrocalcinosis
- Family history of kidney disorders or magnesium deficiency
- Vision problems including severe myopia or macular coloboma
- Children with failure to thrive and developmental delays
- Individuals with elevated calcium levels in urine (hypercalciuria)
- Patients with progressive kidney dysfunction of unknown cause
Clinical Benefits of Testing
Early genetic diagnosis through CLDN19 testing provides numerous clinical advantages:
- Early Intervention: Enables proactive management before irreversible kidney damage occurs
- Personalized Treatment: Guides targeted magnesium supplementation and dietary modifications
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Disease Monitoring: Establishes baseline for ongoing kidney function surveillance
- Vision Care: Facilitates early ophthalmological interventions for associated eye conditions
- Preventive Care: Helps prevent complications like end-stage renal disease
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and physicians:
- Positive Result: Indicates the presence of CLDN19 gene mutations, confirming diagnosis of hypomagnesemia type 5
- Negative Result: Suggests absence of detectable CLDN19 mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation
- Carrier Status: Determines if you carry one copy of the mutated gene without showing symptoms
Test Details and Pricing
| Test Feature | Details |
|---|---|
| Test Name | CLDN19 Gene Hypomagnesemia Type 5 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) |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of potential implications with healthcare provider
- Understanding of insurance coverage and out-of-pocket costs
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States. We have conveniently located branches in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our state-of-the-art laboratories ensure accurate and reliable results regardless of your location.
Take Control of Your Health Today
Don’t let uncertainty about genetic kidney disorders affect your quality of life. Early detection through CLDN19 genetic testing can provide the answers you need to make informed healthcare decisions and implement effective management strategies. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results.
Ready to schedule your test? Call us today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and protecting your kidney function for years to come.
