AVPR2 Gene Diabetes Insipidus Nephrogenic X-Linked NGS Genetic DNA Test
Comprehensive Genetic Testing for X-Linked Nephrogenic Diabetes Insipidus
The AVPR2 Gene Diabetes Insipidus Nephrogenic X-Linked NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited metabolic disorders. This advanced test specifically targets mutations in the AVPR2 gene, which plays a critical role in regulating water balance within the body. Nephrogenic diabetes insipidus is a rare condition characterized by the kidneys’ inability to respond properly to vasopressin, leading to excessive urine production and persistent thirst.
What Does This Test Measure and Detect?
Our comprehensive NGS-based genetic test precisely identifies mutations in the AVPR2 gene located on the X chromosome. This test detects:
- Point mutations affecting the vasopressin V2 receptor
- Frameshift mutations disrupting protein function
- Nonsense mutations leading to premature stop codons
- Missense mutations altering receptor structure
- Splice site mutations affecting gene expression
The test utilizes state-of-the-art Next-Generation Sequencing technology to provide complete coverage of the AVPR2 gene, ensuring high accuracy and reliability in mutation detection.
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals experiencing:
- Unexplained excessive thirst (polydipsia) and urination (polyuria)
- Family history of nephrogenic diabetes insipidus
- Persistent dehydration despite adequate fluid intake
- Failure to thrive in infants and children
- Recurrent episodes of hypernatremia
- Unexplained fever and irritability in young children
- Male individuals with maternal family history of the condition
Clinical Benefits of AVPR2 Genetic Testing
Undergoing this genetic test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out X-linked nephrogenic diabetes insipidus
- Personalized Treatment: Guides appropriate therapeutic interventions
- Genetic Counseling: Enables informed family planning decisions
- Early Intervention: Facilitates timely management to prevent complications
- Carrier Detection: Identifies female carriers for genetic counseling
- Differential Diagnosis: Distinguishes from other forms of diabetes insipidus
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates the presence of a pathogenic mutation in the AVPR2 gene, confirming the diagnosis of X-linked nephrogenic diabetes insipidus
- Negative Result: Suggests no mutation detected in the AVPR2 gene, though other genetic or acquired forms should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation
- Carrier Status: For female patients, indicates carrier status for X-linked inheritance
All positive results include detailed genetic counseling to help you understand the implications and next steps.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving 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 facilities ensure consistent, high-quality testing standards nationwide.
Pre-Test Requirements
Before scheduling your test, we recommend:
- Complete clinical history documentation of symptoms related to diabetes insipidus
- Genetic counseling session to create a detailed family pedigree chart
- Discussion of test implications with your healthcare provider
- Understanding of inheritance patterns and family planning considerations
Take Control of Your Genetic Health Today
Don’t let uncertainty about your genetic health prevent you from getting the answers you need. Our AVPR2 Gene Diabetes Insipidus Nephrogenic X-Linked NGS Genetic DNA Test provides the clarity required for proper diagnosis and management. With our discounted price of only $500 USD and comprehensive genetic analysis, you can make informed decisions about your health and family planning.
Call us now at +1(267) 388-9828 to schedule your genetic test or speak with our genetic counseling team. Take the first step toward understanding your genetic health and securing your family’s future.
