GTF2H5 Gene Trichothiodystrophy NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Inherited Disorders
The GTF2H5 Gene Trichothiodystrophy NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic conditions affecting multiple body systems. This advanced genetic test specifically targets mutations in the GTF2H5 gene, which plays a critical role in DNA repair mechanisms and transcription processes. Trichothiodystrophy is a complex autosomal recessive disorder characterized by distinctive hair abnormalities, photosensitivity, and various systemic manifestations that can impact neurological development, immune function, and skeletal integrity.
What This Test Measures and Detects
This sophisticated genetic analysis utilizes next-generation sequencing (NGS) technology to comprehensively examine the GTF2H5 gene for pathogenic variants. The test specifically identifies:
- Point mutations, deletions, and insertions in the GTF2H5 gene
- Variants associated with transcription factor II H subunit 5 dysfunction
- Genetic markers linked to nucleotide excision repair deficiencies
- Mutations affecting DNA damage response mechanisms
- Genetic variations responsible for trichothiodystrophy spectrum disorders
Who Should Consider This Genetic Test
This comprehensive genetic evaluation is recommended for individuals presenting with the following symptoms or clinical indications:
- Brittle, fragile hair with characteristic tiger-tail banding under polarized light microscopy
- Photosensitivity and abnormal skin reactions to sunlight exposure
- Developmental delays or intellectual disabilities of unknown origin
- Recurrent infections suggesting immune system deficiencies
- Skeletal abnormalities or growth retardation
- Ichthyosis or other congenital skin conditions
- Family history of trichothiodystrophy or related genetic disorders
- Unexplained neurological symptoms including microcephaly
Significant Benefits of Genetic Testing
Undergoing the GTF2H5 Gene Trichothiodystrophy NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Provides definitive molecular confirmation of trichothiodystrophy
- Personalized Treatment Planning: Enables targeted management strategies based on specific genetic findings
- Genetic Counseling: Supports informed family planning decisions and recurrence risk assessment
- Early Intervention: Facilitates proactive management of associated complications
- Comprehensive Care Coordination: Guides multidisciplinary approach involving dermatology, immunology, and genetics specialists
- Research Contribution: Advances understanding of rare genetic disorders and potential therapeutic approaches
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results with clinical context:
- Positive Result: Identifies pathogenic variants in the GTF2H5 gene, confirming trichothiodystrophy diagnosis and guiding specialized care
- Negative Result: No disease-causing variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation and family studies
- Carrier Status: Identifies individuals carrying one copy of mutated gene with implications for family planning
All results are accompanied by detailed clinical interpretation and recommendations from our board-certified genetic specialists.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | GTF2H5 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 |
| Specialties Involved | Dermatology, Genetics, Immunology |
Pre-Test Requirements and Preparation
To ensure optimal testing outcomes, please provide:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to document family pedigree
- Detailed information about affected family members
- Relevant medical records and previous test results
Nationwide Testing Availability
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. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our comprehensive GTF2H5 Gene Trichothiodystrophy NGS Genetic DNA Test provides the answers you need for informed medical management and family planning. Our experienced genetic counselors and medical specialists are ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your genetic health journey.
