ERCC2 Gene Trichothiodystrophy NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Inherited Disorders
The ERCC2 Gene Trichothiodystrophy NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the ERCC2 gene, which plays a critical role in DNA repair mechanisms. This specialized genetic test utilizes next-generation sequencing technology to provide comprehensive analysis of the ERCC2 gene, enabling accurate detection of pathogenic variants associated with trichothiodystrophy—a rare multisystem disorder affecting hair, skin, neurological development, and immune function.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the ERCC2 gene, which encodes a vital protein involved in nucleotide excision repair—a fundamental cellular process that corrects DNA damage caused by ultraviolet radiation and other environmental factors. The test detects:
- Pathogenic mutations in the ERCC2 gene sequence
- Single nucleotide variants and small insertions/deletions
- Genetic variations affecting DNA repair mechanisms
- Inherited mutations associated with trichothiodystrophy spectrum disorders
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with symptoms suggestive of trichothiodystrophy or related DNA repair deficiency disorders:
- Infants and children with brittle, sulfur-deficient hair that displays tiger-tail banding under polarized light microscopy
- Individuals experiencing ichthyosis (scaly skin) and photosensitivity
- Patients with developmental delays, intellectual disability, or neurological abnormalities
- Those with recurrent infections due to immune system deficiencies
- Individuals with short stature, skeletal abnormalities, or dental enamel defects
- Patients with a family history of trichothiodystrophy or consanguineous parents
Clinical Benefits of ERCC2 Genetic Testing
Undergoing the ERCC2 Gene Trichothiodystrophy NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out trichothiodystrophy with high precision
- Personalized Management: Enables tailored treatment approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management of associated complications
- Differential Diagnosis: Helps distinguish trichothiodystrophy from other similar conditions
- Prognostic Information: Offers insights into disease progression and potential complications
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and provided with comprehensive explanations:
- Positive Result: Indicates the presence of pathogenic mutations in the ERCC2 gene, confirming trichothiodystrophy diagnosis
- Negative Result: Suggests no disease-causing mutations were detected in the ERCC2 gene
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if an individual carries one copy of a mutated gene without showing symptoms
All results include detailed interpretation and recommendations for follow-up care, including referral to appropriate specialists such as dermatologists, immunologists, and neurologists.
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | ERCC2 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 of the patient undergoing testing
- Genetic counseling session to create a detailed pedigree chart of affected family members
- Informed consent for genetic testing
- Insurance pre-authorization if applicable
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
If you or your loved one is experiencing symptoms suggestive of trichothiodystrophy or has a family history of this rare disorder, don’t delay in seeking genetic answers. Our team of genetic specialists is ready to provide comprehensive testing, accurate diagnosis, and personalized guidance.
Book your ERCC2 Gene Trichothiodystrophy NGS Genetic DNA Test today by calling our dedicated genetic counseling team at +1(267) 388-9828 or schedule your appointment online. Take control of your genetic health with confidence and clarity.
