NTF4 Gene Glaucoma, Open Angle Type 1F NGS Genetic Test
Short Name: NTF4 Glaucoma Type 1F NGS Test
Also known as: NTF4 gene glaucoma test, Open angle glaucoma type 1F genetic test, NTF4 NGS sequencing test
NTF4 Gene Glaucoma, Open Angle Type 1F 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 Reports are generally delivered within 3 to 4 weeks from sample receipt. The timeline may extend if confirmation testing or further bioinformatics analysis is required for an unusual variant.. 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 test is performed to identify mutations in the NTF4 gene associated with open-angle glaucoma type 1F. It assists in confirming a genetic predisposition in patients with clinical suspicion or a family history and helps in clinical risk stratification and counselling of at-risk relatives.
- Test Code
- 3835
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally delivered within 3 to 4 weeks from sample receipt. The timeline may extend if confirmation testing or further bioinformatics analysis is required for an unusual variant.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. Kindly carry a valid ophthalmology referral/prescription and complete the genetic counselling session before sample collection.
Method: Peripheral venipuncture or FTA card blood spot
Laboratory Analysis
A trained phlebotomist will draw blood into an EDTA vacutainer. For FTA card testing, one drop of blood is placed onto the FTA card and allowed to air dry.
Report Delivery
There are no activity restrictions. Inform the laboratory if you have received a blood transfusion or bone marrow transplant within the last three months.
Timeline: Reports are generally delivered within 3 to 4 weeks from sample receipt. The timeline may extend if confirmation testing or further bioinformatics analysis is required for an unusual variant.
Patient Instructions
About This Test
Who Should Get This Test
The test is performed to identify mutations in the NTF4 gene associated with open-angle glaucoma type 1F. It assists in confirming a genetic predisposition in patients with clinical suspicion or a family history and helps in clinical risk stratification and counselling of at-risk relatives.
How to Prepare
- Complete pretest genetic counselling and informed consent before sample collection.
- Use an EDTA vacutainer for whole blood collection; fill at least 1 mL for paediatric cases and 2 mL for adults.
- For FTA card, apply one drop of blood, avoid touching the target area, and air-dry the card for 30 minutes.
- For extracted DNA, provide at least 500 ng genomic DNA with A260/A280 ratio between 1.8 and 2.0 in a sterile vial.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for NTF4 is most useful when combined with a detailed eye examination and family history. It helps identify individuals who may require more frequent intraocular pressure and optic nerve monitoring."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Inadequate blood volume or insufficient extracted DNA
- Sample without proper labelling or signed consent
- Sample received without clinical history or ophthalmology referral
- Grossly haemolysed, clotted, or microbially contaminated blood sample
- FTA card that is wet, contaminated, or smeared
Understanding Your Results
Negative
No pathogenic or likely pathogenic NTF4 variants were identified. The individual does not have an NTF4-associated genetic predisposition based on current evidence. Regular ophthalmic surveillance is still recommended if there is clinical suspicion of glaucoma.
Positive
A pathogenic or likely pathogenic NTF4 variant was identified. This confirms a genetic predisposition for open-angle glaucoma type 1F. Family members should be offered targeted testing and genetic counselling.
Variant of Uncertain Significance (VUS)
A NTF4 variant was found, but its impact on glaucoma risk is unclear. Further family segregation studies or functional analysis may help clarify the clinical significance.
Consult an ophthalmologist if you have symptoms such as gradual peripheral vision loss, tunnel vision, blurred vision, or halos around lights, or if you have a family history of open-angle glaucoma. A clinical geneticist can help you understand the implications of your NTF4 genetic test result and guide family screening.
Limitations
- ⚠Targeted NGS cannot reliably detect large deletions, duplications, repeat expansions, or deep intronic variants unless specifically analysed.
- ⚠This test is limited to the NTF4 gene and does not rule out mutations in other genes that may cause open-angle glaucoma.
- ⚠Variants of uncertain significance may be reported; additional family testing or functional validation may be required.
- ⚠A negative genetic result does not eliminate the clinical diagnosis of glaucoma, as environmental and other genetic factors contribute to the disease.
Risks & Considerations
- ●Minimal risk of bruising, pain, or bleeding at the venipuncture site
- ●Possible emotional distress or anxiety upon receiving genetic results
- ●No physical risk is associated with FTA card blood spot collection
Interfering Factors
- ●Recent allogeneic bone marrow transplant may lead to donor-derived DNA in blood and affect variant interpretation.
- ●Gross blood contamination or DNA degradation can impair NGS library preparation and sequencing accuracy.
- ●Clonal haematopoiesis of undetermined potential may interfere with germline variant detection in blood samples.
- ●Use of another individual's sample or mislabelling can cause false-positive or false-negative results.
Compare With Similar Tests
| Test | NTF4 Gene Glaucoma, Open Angle Type 1F NGS Genetic Test | Targeted NTF4 Gene Testing | Comprehensive Glaucoma Gene Panel |
|---|---|---|---|
| Comparison | NTF4 Gene Glaucoma, Open Angle Type 1F NGS Genetic Test |
Frequently Asked Questions
What is the NTF4 gene glaucoma NGS genetic test?
What is open-angle glaucoma type 1F?
What are the symptoms of open-angle glaucoma type 1F?
How is open-angle glaucoma diagnosed?
Why should I get this genetic test?
What sample is required for the NTF4 gene NGS test?
Is fasting required before the test?
What is the cost of the NTF4 gene glaucoma NGS test at DNA Labs India?
When will I get my report?
Will I receive raw data files along with my report?
Should I have genetic counselling before the test?
What does a positive result mean?
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