ADAR Gene Dyschromatosis Symmetrica Hereditaria NGS Genetic DNA Test
Comprehensive Genetic Analysis for Inherited Skin Pigmentation Disorders
The ADAR Gene Dyschromatosis Symmetrica Hereditaria NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare dermatological conditions. This advanced test specifically targets mutations in the ADAR (Adenosine Deaminase Acting on RNA) gene, which has been identified as the primary genetic cause of Dyschromatosis Symmetrica Hereditaria (DSH), also known as reticulate acropigmentation of Dohi.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test analyzes the entire coding region of the ADAR gene to identify pathogenic variants responsible for DSH. The test specifically detects:
- Point mutations in the ADAR gene coding sequence
- Small insertions and deletions affecting gene function
- Missense, nonsense, and frameshift mutations
- Splice site variants that disrupt normal RNA editing
- Autosomal dominant inheritance pattern confirmation
The ADAR gene encodes an enzyme crucial for RNA editing, particularly in the nervous system and skin. Mutations in this gene disrupt normal melanocyte function and pigment distribution, leading to the characteristic symmetrical pigmentation patterns seen in DSH.
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with:
- Symmetrical hyperpigmented and hypopigmented macules on dorsal hands and feet
- Family history of similar skin pigmentation patterns
- Onset of pigmentation changes in early childhood
- Progressive development of reticulate pigmentation
- Absence of other systemic symptoms or neurological involvement
- Differential diagnosis needs for other pigmentary disorders
Clinical Benefits of Genetic Testing
Undergoing the ADAR Gene Dyschromatosis Symmetrica Hereditaria test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms DSH diagnosis and differentiates from other pigmentary disorders
- Genetic Counseling: Enables informed family planning decisions
- Prognostic Information: Helps understand disease progression and management
- Treatment Guidance: Informs appropriate dermatological management strategies
- Family Risk Assessment: Identifies at-risk relatives for early intervention
- Psychological Relief: Provides clarity and reduces diagnostic uncertainty
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results:
- Positive Result: Identification of a pathogenic ADAR gene mutation confirms DSH diagnosis and provides information about inheritance risk to offspring (50% chance with each pregnancy)
- Negative Result: No pathogenic mutation detected suggests alternative diagnoses should be considered
- Variant of Uncertain Significance: Rare genetic changes with unclear clinical significance may require additional family studies
- Carrier Status: Important for family members considering genetic testing
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | ADAR Gene Dyschromatosis Symmetrica Hereditaria NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Understanding of test implications and potential outcomes
- Informed consent for genetic testing
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 you can access this specialized genetic testing regardless of your location.
Take the Next Step Toward Genetic Clarity
If you or a family member are experiencing symptoms suggestive of Dyschromatosis Symmetrica Hereditaria, don’t wait to get answers. Our specialized genetic testing provides the clarity needed for proper diagnosis and management. Our genetic counselors are available to discuss your concerns and guide you through the testing process.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your ADAR Gene Dyschromatosis Symmetrica Hereditaria NGS Genetic DNA Test. Take control of your genetic health with confidence and precision.
