GTF2H5 Gene Trichothiodystrophy NGS Genetic Test
Short Name: GTF2H5 TTD NGS Test
Also known as: Trichothiodystrophy NGS Test, GTF2H5 Mutation Analysis, TTD Genetic Test
GTF2H5 Gene Trichothiodystrophy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the GTF2H5 Gene Trichothiodystrophy NGS Genetic Test is to diagnose Trichothiodystrophy by identifying pathogenic mutations in the GTF2H5 gene using Next-Generation Sequencing. This test confirms the genetic basis of the disorder, aids in differential diagnosis, and informs treatment and management plans.
- Test Code
- 5158
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Provide clinical history and undergo genetic counseling if recommended.
Method: Venipuncture or FTA Card spotting
Laboratory Analysis
A blood sample will be drawn from a vein in the arm, or a drop of blood will be spotted on an FTA card.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the GTF2H5 Gene Trichothiodystrophy NGS Genetic Test is to diagnose Trichothiodystrophy by identifying pathogenic mutations in the GTF2H5 gene using Next-Generation Sequencing. This test confirms the genetic basis of the disorder, aids in differential diagnosis, and informs treatment and management plans.
How to Prepare
- Ensure the patient is comfortable and hydrated
- Use sterile equipment for blood collection
- Label the sample correctly with patient details
- Store the sample at ambient temperature if using FTA card
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for Trichothiodystrophy can guide management, family planning, and provide clarity for affected individuals and families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Trichothiodystrophy. Genetic counseling recommended for management and family planning.
No pathogenic variant detected
Trichothiodystrophy due to GTF2H5 mutations is unlikely. Consider other genetic or clinical causes.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed. Consult a geneticist for guidance.
Consult a healthcare professional if you experience symptoms like brittle hair, dry skin, intellectual disability, or have a family history of Trichothiodystrophy. After testing, discuss results with a genetic counselor or specialist for appropriate management.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
- ⚠Results require interpretation by a genetic counselor or specialist
- ⚠Does not rule out other genetic causes of similar symptoms
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results; counseling is recommended
Interfering Factors
- ●Poor sample quality or insufficient DNA quantity
- ●Contamination during sample collection or processing
- ●Recent blood transfusions may affect DNA analysis
Compare With Similar Tests
| Test | GTF2H5 Gene Trichothiodystrophy NGS Genetic Test | Whole Exome Sequencing | Sanger Sequencing | Chromosomal Microarray |
|---|---|---|---|---|
| Comparison | GTF2H5 Gene Trichothiodystrophy NGS Genetic Test |
Frequently Asked Questions
What is Trichothiodystrophy?
How is Trichothiodystrophy diagnosed?
What are the symptoms of Trichothiodystrophy?
What is the cost of the GTF2H5 Gene Test in India?
How long does it take to get results?
Is fasting required for this test?
What sample types are accepted?
Is home sample collection available?
What does a positive test result mean?
Can this test detect all mutations?
Is genetic counseling necessary?
How do I book this test?
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₹20,000Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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