CYP1B1 Gene Glaucoma, Primary Type 3A NGS Genetic Test
Short Name: CYP1B1 Glaucoma NGS Test
Also known as: CYP1B1 Glaucoma NGS Genetic Test, Primary Congenital Glaucoma Genetic Test, GLC3A Genetic Test, CYP1B1 Gene Mutation Analysis
CYP1B1 Gene Glaucoma, Primary Type 3A 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 Results are typically ready within 3 to 4 weeks after sample receipt. In rare cases of repeat testing, the timeline may extend by a few days.. 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 this NGS genetic test is to detect pathogenic variants in the CYP1B1 gene that may cause glaucoma, primary type 3A. It is used to confirm a genetic diagnosis in children with suspected primary congenital glaucoma, to support reproductive and family planning discussions, and to screen at-risk family members when a CYP1B1 mutation has already been identified in the family.
- Test Code
- 3836
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically ready within 3 to 4 weeks after sample receipt. In rare cases of repeat testing, the timeline may extend by a few days.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. Clinical history of the patient should be provided, and a genetic counselling session to draw a pedigree chart of family members affected with CYP1B1 gene glaucoma is recommended before the test.
Method: Peripheral blood collection by phlebotomist; FTA blood spot preparation; extracted DNA submission
Laboratory Analysis
A trained phlebotomist will collect a blood sample in an EDTA vacutainer, or a one-drop blood sample on an FTA card. If extracted DNA is already available, it can be submitted directly according to the laboratory protocol.
Report Delivery
No specific precautions are needed after sample collection. The sample should be transported to the laboratory for DNA extraction, sequencing and variant analysis.
Timeline: Results are typically ready within 3 to 4 weeks after sample receipt. In rare cases of repeat testing, the timeline may extend by a few days.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic variants in the CYP1B1 gene that may cause glaucoma, primary type 3A. It is used to confirm a genetic diagnosis in children with suspected primary congenital glaucoma, to support reproductive and family planning discussions, and to screen at-risk family members when a CYP1B1 mutation has already been identified in the family.
How to Prepare
- No fasting is required before sample collection.
- Whole blood sample should be collected in an EDTA vacutainer.
- For FTA card collection, place one drop of blood on the marked circle and allow it to dry completely.
- Extracted DNA should be clearly labelled with patient name and unique identifier.
- Sample should be transported to the laboratory at the recommended temperature.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As the test is often requested during family screening, a formal genetic counselling session should be held before and after the report. Coordination with a paediatric ophthalmologist is essential for a complete clinical evaluation."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample
- Haemolysed blood sample
- Insufficient sample quantity
- Incorrectly labelled sample
- FTA card received wet or contaminated
- Sample received outside the stability period
Understanding Your Results
No pathogenic variant detected
No evidence of a disease-causing mutation in CYP1B1 was found. However, this does not completely rule out a genetic or non-genetic cause of glaucoma.
Heterozygous pathogenic variant detected
One altered copy of CYP1B1 was identified. In autosomal recessive CYP1B1 glaucoma, a second variant may be present in the other copy of the gene; family studies and clinical correlation are advised.
Homozygous or compound heterozygous pathogenic variant detected
Two disease-causing variants in CYP1B1 were identified, consistent with a molecular diagnosis of CYP1B1-related glaucoma. Genetic counselling is recommended.
Variant of uncertain significance (VUS)
The clinical significance of the variant is not currently known. Family segregation analysis and further clinical assessment may be required to clarify its role.
Consult an ophthalmologist or geneticist immediately if an infant or child shows cloudy cornea, enlarged eyes, excessive tearing, sensitivity to light, or a family history of childhood glaucoma. Early evaluation is essential to prevent optic nerve damage and vision loss.
Limitations
- ⚠This test is intended for germline CYP1B1 variants and does not assess somatic mosaicism.
- ⚠Standard NGS may not detect large structural rearrangements, deep intronic variants, or trinucleotide repeat expansions.
- ⚠A variant of uncertain significance may be reported and require additional family studies.
- ⚠A negative result does not exclude glaucoma caused by variants in other genes or by non-genetic causes.
Risks & Considerations
- ●Minimal risk of bruising, infection, or discomfort at the blood collection site.
- ●Genetic test results may have psychological and emotional implications for the family.
- ●Identification of variants of uncertain significance may require further testing.
Interfering Factors
- ●Maternal cell contamination in blood samples from infants.
- ●Recent allogeneic blood transfusion can dilute the patient's DNA.
- ●Poor DNA quality or quantity from delayed processing.
- ●Contamination during sample collection or DNA extraction.
Compare With Similar Tests
| Test | CYP1B1 Gene Glaucoma, Primary Type 3A NGS Genetic Test | ||
|---|---|---|---|
| Comparison | CYP1B1 Gene Glaucoma, Primary Type 3A NGS Genetic Test |
Frequently Asked Questions
What is the CYP1B1 Glaucoma, Primary Type 3A NGS Genetic Test?
What is the cost of the CYP1B1 Glaucoma Primary Type 3A NGS test at DNA Labs India?
What sample is needed for this genetic test?
Is fasting required before the test?
How long will the report take?
Who should take the CYP1B1 gene glaucoma test?
What symptoms can occur in CYP1B1 gene glaucoma?
How is CYP1B1 glaucoma inherited?
Why is genetic counselling required before this test?
Can a negative CYP1B1 NGS result rule out glaucoma completely?
Does DNA Labs India offer home sample collection for this test?
What does a pathogenic variant in CYP1B1 mean?
Related Tests
Leber's Hereditary Optic Neuropathy (LHON) Mitochondrial Mutation Detection Test
₹25,000Nx Gen Sequencing: Glaucoma Test
₹28,665Nx Gen Sequencing: Corneal Dystrophy Test
₹28,665Nx Gen Sequencing: Leber Congenital Amaurosis Test
₹28,665Nx Gen Sequencing: Optic Atrophy Test
₹28,665GPR143 Gene Albinism, Ocular Type I, Nettleship-Falls Type NGS Genetic Test
₹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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.