TRPM6 Gene Hypomagnesemia Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Hereditary Magnesium Deficiency
The TRPM6 Gene Hypomagnesemia Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals suffering from unexplained magnesium deficiency disorders. This advanced genetic analysis specifically targets the TRPM6 gene, which plays a critical role in magnesium homeostasis and absorption within the human body. Hypomagnesemia type 1 is a rare autosomal recessive condition characterized by severe magnesium wasting, leading to significant clinical complications if left undiagnosed and untreated.
What Does This Test Measure and Detect?
Our comprehensive NGS genetic test employs cutting-edge next-generation sequencing technology to analyze the entire TRPM6 gene for pathogenic variants. The test specifically identifies:
- Point mutations and single nucleotide variants in the TRPM6 gene
- Insertions and deletions affecting gene function
- Splice site mutations that disrupt normal protein production
- Compound heterozygous mutations causing autosomal recessive inheritance
- Novel genetic variants with potential clinical significance
The TRPM6 gene encodes a transient receptor potential cation channel subfamily M member 6, which is essential for magnesium absorption in the intestines and renal tubules. Mutations in this gene impair magnesium reabsorption, leading to the characteristic symptoms of hypomagnesemia type 1.
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with the following symptoms or clinical scenarios:
- Unexplained persistent hypomagnesemia despite adequate dietary intake
- Recurrent muscle cramps, spasms, or tetany
- Neurological symptoms including seizures or tremors
- Cardiac arrhythmias or abnormal ECG findings
- Chronic fatigue and generalized weakness
- Family history of magnesium deficiency disorders
- Children with failure to thrive and developmental delays
- Patients with refractory hypocalcemia
- Individuals with a suspected diagnosis of Gitelman or Bartter-like syndromes
Clinical Benefits of TRPM6 Genetic Testing
Undergoing the TRPM6 Gene Hypomagnesemia Type 1 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out hereditary hypomagnesemia type 1 with high precision
- Personalized Treatment: Enables targeted magnesium supplementation and management strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates prompt treatment to prevent long-term complications
- Differential Diagnosis: Helps distinguish between various forms of hereditary magnesium wasting disorders
- Prognostic Information: Offers insights into disease progression and potential complications
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your TRPM6 gene analysis:
- Positive Result: Identification of pathogenic mutations confirms the diagnosis of hypomagnesemia type 1, requiring lifelong magnesium supplementation and monitoring
- Negative Result: Absence of known pathogenic variants suggests alternative causes for magnesium deficiency
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or functional analysis
- Carrier Status: Identification of single mutation carriers important for family planning purposes
All results are accompanied by detailed clinical interpretation and recommendations from our board-certified genetic specialists.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | TRPM6 Gene Hypomagnesemia Type 1 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 |
| Specialty | Metabolic Genetics |
Pre-Test Requirements
Before undergoing the TRPM6 Gene Hypomagnesemia Type 1 NGS Genetic DNA Test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss testing implications
- Development of a detailed family pedigree chart
- Review of previous magnesium and electrolyte studies
- Discussion of potential outcomes and their clinical significance
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures that high-quality genetic testing is accessible to patients throughout the country.
Take Control of Your Health Today
Don’t let unexplained symptoms compromise your quality of life. The TRPM6 Gene Hypomagnesemia Type 1 NGS Genetic DNA Test provides definitive answers and empowers you with knowledge for better health management. Our experienced genetic counselors and medical specialists are available to guide you through the testing process and help interpret your results.
Call us today at +1(267) 388-9828 to schedule your genetic test or to speak with our genetic specialists. Take the first step toward accurate diagnosis and personalized treatment for magnesium deficiency disorders.
