TGFBI Gene Corneal Dystrophy, Epithelial Basement Membrane NGS Genetic Test
Short Name: TGFBI Corneal Dystrophy NGS Test
Also known as: TGFBI Corneal Dystrophy Genetic Test, Epithelial Basement Membrane Corneal Dystrophy NGS Test, TGFBI Gene Mutation Analysis, Map-Dot-Fingerprint Dystrophy Genetic Test, Cogan Microcystic Dystrophy Genetic Test
TGFBI Gene Corneal Dystrophy, Epithelial Basement Membrane NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Bioinformatics Pipeline Analysis, Sanger Confirmation (if required) on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample collection. You will be notified when your report is ready for download or delivery.. 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 primary purpose of the TGFBI Gene Corneal Dystrophy NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the TGFBI gene that cause or predispose individuals to epithelial basement membrane corneal dystrophy and other TGFBI-related corneal dystrophies. This test enables precise molecular diagnosis, guides appropriate clinical management, facilitates genetic counselling for affected families, and supports informed reproductive decision-making.
- Test Code
- 1488
- CPT Code
- 81479
- ICD Code
- H18.5
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample collection. You will be notified when your report is ready for download or delivery.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Bioinformatics Pipeline Analysis, Sanger Confirmation (if required)
Sample Collection
No fasting is required. A clinical history of the patient and a genetic counselling session to construct a detailed pedigree chart of affected family members should be completed prior to sample collection.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect 3–5 mL of peripheral venous blood in an EDTA vacutainer tube, or alternatively a single drop of blood can be spotted on an FTA card. The procedure takes approximately 5–10 minutes.
Report Delivery
The blood sample is labelled, stored at ambient room temperature, and transported to the DNA Labs India NABL-accredited laboratory under standardised conditions for DNA extraction and NGS analysis.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample collection. You will be notified when your report is ready for download or delivery.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the TGFBI Gene Corneal Dystrophy NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the TGFBI gene that cause or predispose individuals to epithelial basement membrane corneal dystrophy and other TGFBI-related corneal dystrophies. This test enables precise molecular diagnosis, guides appropriate clinical management, facilitates genetic counselling for affected families, and supports informed reproductive decision-making.
How to Prepare
- Ensure the patient has completed pre-test genetic counselling and pedigree documentation
- Collect 3–5 mL blood in an EDTA (Lavender Top) vacutainer or spot one drop on an FTA card
- Gently invert the EDTA tube 8–10 times immediately after collection to prevent clotting
- Label the sample with the patient's full name, date of birth, and unique identification number
- Store the sample at ambient room temperature (15–30°C) and avoid direct sunlight or extreme heat
- Transport the sample to the laboratory within 48 hours of collection
- Include a completed test requisition form with clinical history and signed informed consent
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"TGFBI gene corneal dystrophy, including epithelial basement membrane dystrophy (EBMD), can present with recurrent corneal erosions, visual disturbances, and characteristic corneal deposits. Genetic confirmation through NGS testing allows for precise diagnosis, differentiation from other corneal dystrophies, genetic counselling for affected families, and informed decisions regarding treatment, including phototherapeutic keratectomy or corneal transplantation when indicated. I recommend this test for patients with a clinical suspicion of TGFBI-related corneal dystrophy and for at-risk family members seeking carrier or predictive status information."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample in EDTA tube
- Sample collected in heparinised tube
- Insufficient sample volume (less than 2 mL)
- Unlabelled or mislabelled samples
- Samples without signed informed consent or completed requisition form
- Haemolysed or severely degraded samples
Understanding Your Results
A known disease-causing mutation in the TGFBI gene has been identified. This confirms a genetic diagnosis of TGFBI-related corneal dystrophy and supports clinical management and genetic counselling for the patient and family members.
A variant with strong evidence of disease causality has been found. Clinical correlation and family segregation studies are recommended to strengthen the diagnosis.
A variant has been detected that cannot be classified as pathogenic or benign with current evidence. Further testing of family members, functional studies, and periodic reanalysis are recommended.
A variant has been identified that is unlikely to cause disease. Clinical correlation is advised.
No disease-causing mutations were identified in the TGFBI gene. This does not exclude a genetic aetiology if mutations exist in other corneal dystrophy genes. Further clinical evaluation and additional genetic testing may be considered.
Consult your ophthalmologist or cornea specialist if you experience recurrent episodes of eye pain or redness, particularly upon waking; blurred or hazy vision; excessive tearing; sensitivity to light; or a sensation of a foreign body in the eye. Genetic consultation is recommended for individuals with a family history of corneal dystrophy or those who have received a positive or VUS result from this genetic test. Early diagnosis and management can help prevent complications such as corneal scarring and progressive vision loss.
Limitations
- ⚠This test targets the TGFBI gene only and does not screen for mutations in other genes associated with corneal dystrophy
- ⚠Deep intronic variants and large structural rearrangements may not be fully detected by standard NGS panel
- ⚠Variants of uncertain significance (VUS) may be identified that cannot be definitively classified as pathogenic or benign at the time of testing
- ⚠A negative result does not completely exclude a genetic basis for corneal dystrophy if mutations lie outside the regions covered
- ⚠Results should always be interpreted in conjunction with clinical findings and family history by a qualified ophthalmologist and geneticist
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Very small risk of infection at the blood draw site
- ●Psychological impact of genetic results, particularly for family members
- ●Risk of receiving variants of uncertain significance that may cause anxiety pending further classification
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing accuracy and coverage
- ●Blood sample contamination or improper storage can compromise results
- ●Recent blood transfusion within the past 30 days may affect DNA analysis
- ●Heparinised blood samples may interfere with downstream sequencing chemistry
Compare With Similar Tests
| Test | TGFBI Gene Corneal Dystrophy, Epithelial Basement Membrane NGS Genetic Test | Slit-Lamp Examination | Confocal Microscopy | Sanger Sequencing of TGFBI Gene | Corneal Biopsy with Histopathology |
|---|---|---|---|---|---|
| Comparison | TGFBI Gene Corneal Dystrophy, Epithelial Basement Membrane NGS Genetic Test |
Frequently Asked Questions
What is the TGFBI Gene Corneal Dystrophy NGS Genetic Test?
Who should get the TGFBI Gene Corneal Dystrophy NGS Genetic Test?
What sample is required for this genetic test?
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What is a Variant of Uncertain Significance (VUS)?
Can this test be used for carrier testing or prenatal testing?
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