CLDN16 Gene Hypomagnesemia Type 3 NGS Genetic DNA Test
Comprehensive Genetic Testing for Magnesium Metabolism Disorders
The CLDN16 Gene Hypomagnesemia Type 3 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for individuals suffering from unexplained magnesium deficiency and related kidney complications. This specialized genetic analysis utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the CLDN16 gene, which plays a critical role in magnesium reabsorption in the kidneys.
What Does This Test Measure?
This advanced genetic test specifically targets and analyzes the CLDN16 gene, which encodes the protein claudin-16. This protein forms tight junctions in the thick ascending limb of the loop of Henle in the kidneys, creating a paracellular pathway essential for magnesium and calcium reabsorption. The test detects:
- Point mutations in the CLDN16 gene coding regions
- Insertions and deletions affecting gene function
- Splice site mutations disrupting protein production
- Novel genetic variants with potential clinical significance
Who Should Consider This Test?
This genetic test is particularly important for individuals presenting with:
- Persistent hypomagnesemia (low blood magnesium levels) despite supplementation
- Recurrent kidney stones or nephrocalcinosis (calcium deposits in kidneys)
- Hypercalciuria (excessive calcium in urine)
- Family history of magnesium metabolism disorders
- Unexplained muscle cramps, weakness, or tetany
- Developmental delays in children with electrolyte imbalances
- Suspected familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC)
Clinical Benefits of Genetic Testing
Undergoing the CLDN16 Gene Hypomagnesemia Type 3 NGS Genetic DNA Test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out genetic causes of hypomagnesemia
- Personalized Treatment: Enables targeted magnesium replacement therapy
- Family Planning: Provides crucial information for genetic counseling
- Early Intervention: Allows proactive management to prevent kidney damage
- Disease Monitoring: Helps track disease progression and treatment response
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists:
- Positive Result: Identifies pathogenic mutations in the CLDN16 gene, confirming the diagnosis of familial hypomagnesemia type 3
- Negative Result: No disease-causing mutations detected, suggesting other causes for symptoms
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: May identify individuals carrying one copy of a mutated gene
All positive results include detailed interpretation and recommendations for clinical management, dietary modifications, and follow-up care.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | CLDN16 Gene Hypomagnesemia Type 3 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 |
| Methodology | Next-Generation Sequencing (NGS) Technology |
| Specialty | Genetics, Metabolic Disorders |
Pre-Test Requirements
Before scheduling your test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create a detailed family pedigree
- Review of previous laboratory results and imaging studies
- Discussion of potential implications for family members
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 testing regardless of your location.
Take the Next Step Toward Answers
If you or a family member experiences symptoms of hypomagnesemia or has a family history of magnesium metabolism disorders, don’t wait to get answers. Our comprehensive genetic testing provides the clarity needed for proper diagnosis and management.
Call us today at +1(267) 388-9828 to schedule your CLDN16 Gene Hypomagnesemia Type 3 NGS Genetic DNA Test or book your appointment online. Our genetic counselors are available to answer your questions and guide you through the testing process.
Early genetic diagnosis can significantly improve quality of life and prevent long-term complications. Take control of your health with definitive genetic testing from America’s leading genetics laboratory.
