TGM1 Gene Ichthyosis, congenital, autosomal recessive type 1 NGS Genetic Test
Short Name: TGM1 Gene Ichthyosis NGS Genetic Test
Also known as: Congenital Ichthyosis Type 1, TGM1 Gene Mutation Test, ARCI Type 1
TGM1 Gene Ichthyosis, congenital, autosomal recessive type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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
To confirm the diagnosis of TGM1 gene ichthyosis by identifying pathogenic mutations in the TGM1 gene, aiding in clinical management, genetic counseling, and family planning.
- Test Code
- 4997
- 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
- NGS Technology
Sample Collection
No special preparation required. Provide clinical history and family pedigree as advised.
Method: Venipuncture or FTA Card
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist using sterile techniques.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Keep the area clean.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To confirm the diagnosis of TGM1 gene ichthyosis by identifying pathogenic mutations in the TGM1 gene, aiding in clinical management, genetic counseling, and family planning.
How to Prepare
- Ensure proper patient identification
- Use sterile collection equipment
- Label samples correctly
- Follow transport guidelines for stability
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for TGM1 mutations is crucial for confirming diagnosis, guiding treatment, and informing family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improper labeling or storage
Understanding Your Results
Positive
Pathogenic variant detected, confirming diagnosis of TGM1 gene ichthyosis.
Negative
No pathogenic variants detected; clinical correlation and further testing may be needed.
Variant of Uncertain Significance
A genetic variant was found but its clinical significance is unknown; requires follow-up.
If symptoms of ichthyosis are present, or if genetic testing is recommended by a healthcare provider for diagnosis or family planning.
Limitations
- ⚠May not detect all genetic variants or mutations in other genes
- ⚠Requires interpretation by a genetic specialist
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minor bruising at puncture site
- ●Rare risk of infection
- ●Emotional impact of genetic results
Compare With Similar Tests
| Test | TGM1 Gene Ichthyosis, congenital, autosomal recessive type 1 NGS Genetic Test | Clinical Examination | Skin Biopsy |
|---|---|---|---|
| Comparison | TGM1 Gene Ichthyosis, congenital, autosomal recessive type 1 NGS Genetic Test |
Frequently Asked Questions
What is TGM1 Gene Ichthyosis?
What are the symptoms of TGM1 Gene Ichthyosis?
How is TGM1 Gene Ichthyosis diagnosed?
What is the cost of the NGS Genetic Test for TGM1 Gene Ichthyosis?
What sample is required for the test?
How long does it take to get the test results?
Is home sample collection available?
What are the treatment options for TGM1 Gene Ichthyosis?
Can this test be used for prenatal diagnosis?
Is genetic counseling recommended before testing?
What does a positive test result mean?
Are there any risks associated with the 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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ 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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