DBH Gene Dopamine Beta-Hydroxylase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Autonomic Nervous System Disorders
The DBH Gene Dopamine Beta-Hydroxylase Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare autonomic nervous system disorders. This advanced test specifically targets the DBH gene, which encodes the enzyme dopamine beta-hydroxylase responsible for converting dopamine to norepinephrine. When this enzyme is deficient, it leads to a cascade of cardiovascular and neurological symptoms that can significantly impact quality of life.
What Does This Test Measure?
Our NGS-based genetic test provides comprehensive analysis of the DBH gene to identify pathogenic variants associated with dopamine beta-hydroxylase deficiency. The test specifically detects:
- Point mutations in the DBH gene coding regions
- Insertions and deletions affecting enzyme function
- Splice site variants that disrupt normal gene expression
- Regulatory region mutations impacting enzyme production
- Compound heterozygous and homozygous mutations
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of autonomic nervous system dysfunction, including:
- Severe orthostatic hypotension (low blood pressure upon standing)
- Exercise intolerance and chronic fatigue
- Ptosis (drooping eyelids) and other ocular symptoms
- Autonomic dysfunction affecting heart rate and blood pressure regulation
- Family history of similar cardiovascular or autonomic disorders
- Unexplained syncope (fainting episodes)
- Children with developmental delays and autonomic symptoms
Clinical Benefits of DBH Genetic Testing
Early and accurate diagnosis through DBH genetic testing provides numerous clinical advantages:
- Precise Diagnosis: Confirms dopamine beta-hydroxylase deficiency with high accuracy
- Personalized Treatment: Enables targeted therapeutic approaches including L-DOPS therapy
- Family Planning: Provides crucial information for genetic counseling and family planning decisions
- Symptom Management: Guides appropriate management strategies for autonomic symptoms
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Contributes to ongoing research in rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling service helps you understand your DBH test results:
- Positive Result: Indicates pathogenic mutations in the DBH gene confirming dopamine beta-hydroxylase deficiency
- Negative Result: Suggests absence of known DBH mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene without showing symptoms
All results are accompanied by detailed interpretation and recommendations from our certified genetic counselors.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | DBH Gene Dopamine Beta-Hydroxylase Deficiency 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) Technology |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of symptoms and previous diagnostic evaluations
- Informed consent for genetic testing
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities 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 for everyone.
Take Control of Your Health Today
Don’t let unexplained symptoms control your life. Our DBH Gene Dopamine Beta-Hydroxylase Deficiency NGS Genetic DNA Test provides the answers you need for proper diagnosis and treatment. With our discounted price of $500 USD and comprehensive genetic counseling included, you’re investing in your long-term health and wellbeing.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our expert team is ready to guide you through every step of the testing process and help you understand your results with compassion and expertise.
