AVP Gene Diabetes Insipidus Neurohypophyseal NGS Genetic DNA Test
Understanding Neurohypophyseal Diabetes Insipidus
Neurohypophyseal diabetes insipidus is a rare hereditary condition characterized by the inability to properly concentrate urine, leading to excessive thirst and urination. This disorder results from mutations in the AVP gene, which encodes arginine vasopressin – a crucial hormone that regulates water balance in the body. Our advanced NGS genetic DNA test provides definitive diagnosis and helps guide appropriate treatment strategies.
What Does This Test Measure?
This comprehensive genetic analysis utilizes next-generation sequencing technology to examine the entire AVP gene for pathogenic mutations. The test specifically detects:
- Point mutations in the AVP gene coding regions
- Small insertions and deletions affecting gene function
- Genetic variants associated with autosomal dominant inheritance patterns
- Mutations that disrupt vasopressin production and processing
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Excessive thirst (polydipsia) and urination (polyuria)
- Family history of diabetes insipidus
- Early-onset symptoms in childhood or adolescence
- Inability to concentrate urine despite dehydration
- Nocturnal enuresis or bedwetting in older children
- Failure to thrive in infants with the condition
Clinical Indications Include:
- Patients with suspected hereditary diabetes insipidus
- Families with multiple affected members across generations
- Individuals with unexplained polyuria and polydipsia
- Patients requiring differentiation between genetic and acquired forms
Benefits of Genetic Testing
Undergoing the AVP gene test provides numerous advantages:
- Accurate Diagnosis: Confirms neurohypophyseal diabetes insipidus with genetic certainty
- Family Planning: Enables informed reproductive decisions for affected families
- Early Intervention: Allows prompt treatment initiation in at-risk children
- Treatment Guidance: Helps determine appropriate desmopressin therapy
- Genetic Counseling: Provides basis for comprehensive family risk assessment
Understanding Your Test Results
Our genetic counselors will help you interpret your results:
- Positive Result: Identifies a pathogenic mutation confirming diagnosis
- Negative Result: No mutation detected, suggesting other causes
- Variant of Uncertain Significance: Requires further clinical correlation
- Carrier Status: Important for family members and genetic counseling
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | AVP Gene Diabetes Insipidus Neurohypophyseal 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 |
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session with our specialists
- Development of family pedigree chart
- Discussion of testing implications and potential outcomes
Nationwide Testing Availability
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, and San Jose. Our network ensures accessible genetic testing services for patients throughout the country.
Take Control of Your Health Today
Don’t let unexplained symptoms control your life. Our AVP Gene Diabetes Insipidus Neurohypophyseal NGS Genetic DNA Test provides the answers you need for proper diagnosis and treatment. With our discounted price of $500 USD and comprehensive genetic analysis, you can gain valuable insights into your condition and make informed healthcare decisions.
Ready to schedule your test? Call our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and receiving the personalized care you deserve.
