ERCC3 Gene Trichothiodystrophy NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Dermatological Disorders
The ERCC3 Gene Trichothiodystrophy NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic conditions affecting multiple body systems. This advanced genetic screening utilizes state-of-the-art Next-Generation Sequencing technology to identify mutations in the ERCC3 gene, which plays a critical role in DNA repair mechanisms and cellular function.
What Does This Test Measure and Detect?
This specialized genetic test specifically targets the ERCC3 gene, which encodes a vital component of the transcription factor IIH complex involved in nucleotide excision repair. The test detects:
- Pathogenic variants and mutations in the ERCC3 gene
- Single nucleotide polymorphisms associated with trichothiodystrophy
- Deletions, insertions, and complex rearrangements affecting gene function
- Genetic markers indicating increased susceptibility to photosensitivity and immune dysfunction
Who Should Consider This Genetic Test?
This comprehensive genetic analysis is recommended for individuals presenting with symptoms suggestive of trichothiodystrophy or related disorders:
- Patients with brittle, sulfur-deficient hair that fractures easily
- Individuals experiencing extreme photosensitivity and skin abnormalities
- Children showing developmental delays or intellectual disabilities
- Patients with recurrent infections suggesting immune system compromise
- Individuals with ichthyosis or other dermatological manifestations
- Those with a family history of similar symptoms or confirmed genetic disorders
Clinical Benefits of ERCC3 Genetic Testing
Undergoing this genetic test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive identification of genetic causes behind complex symptoms
- Personalized Treatment: Enables targeted therapeutic approaches based on specific genetic findings
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management of potential complications
- Comprehensive Care: Supports multidisciplinary treatment involving dermatologists, immunologists, and genetic specialists
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Indicates the presence of pathogenic ERCC3 gene mutations confirming trichothiodystrophy diagnosis
- Negative Result: Suggests absence of detectable mutations in the ERCC3 gene, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation and family studies
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results are accompanied by detailed explanations and recommendations for follow-up care with qualified genetic counselors and medical specialists.
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | ERCC3 Gene Trichothiodystrophy 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 and Preparation
To ensure optimal testing conditions and accurate results, please note the following requirements:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Identification of family members affected by similar symptoms
- Informed consent for genetic testing and result disclosure
Nationwide Accessibility and Convenience
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our network of certified collection centers ensures easy access to this specialized genetic testing service.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your quality of life. Our ERCC3 Gene Trichothiodystrophy NGS Genetic DNA Test provides the answers you need for informed medical decisions and comprehensive care planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with our genetic counseling specialists. Take control of your genetic health with confidence and precision.
