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MYOC Gene Glaucoma, Open Angle Type 1A NGS Genetic Test

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MYOC Gene Glaucoma, Open Angle Type 1A NGS Genetic Test

Short Name: MYOC Glaucoma NGS Test

Also known as: GLC1A Gene Test, Myocilin Gene Mutation Test, Open Angle Glaucoma Type 1A Genetic Test

MYOC Gene Glaucoma, Open Angle Type 1A 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 generally available within 3 to 4 weeks after the sample reaches the laboratory. The report will be shared online through email, portal, or WhatsApp.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

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 disease-causing mutations in the MYOC gene associated with open-angle glaucoma type 1A. Molecular confirmation helps clinicians assess inherited risk, guide treatment decisions, and offer genetic counselling and cascade testing to affected families.

Test Code
3831
ICD Code
H40.11
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are generally available within 3 to 4 weeks after the sample reaches the laboratory. The report will be shared online through email, portal, or WhatsApp.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Please provide the clinical history of the patient and any previous eye examination reports. A genetic counselling session is recommended to draw a pedigree of family members affected with MYOC-related glaucoma.

Method: Venipuncture or finger-prick blood spot / extracted DNA submission

Step 2

Laboratory Analysis

A trained phlebotomist or laboratory technician will collect blood using venipuncture. If an FTA card is used, one drop of blood will be placed on the card for drying and transport.

Step 3

Report Delivery

No specific dietary or physical restrictions are required after sample collection. You may resume normal activities immediately.

Timeline: Results are generally available within 3 to 4 weeks after the sample reaches the laboratory. The report will be shared online through email, portal, or WhatsApp.

Patient Instructions

1
Before the Test:Before this test, you should complete a genetic counselling session if possible, share your clinical history and family pedigree, and provide all prior eye examination reports. No fasting is required.
2
During the Test:During the test, a small blood sample will be collected. If using an FTA card, a simple finger-prick blood spot is taken. The procedure is quick and non-invasive.
3
After the Test:After the test, you can resume normal activities immediately. The laboratory will process the sample by NGS technology and share the report after 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect disease-causing mutations in the MYOC gene associated with open-angle glaucoma type 1A. Molecular confirmation helps clinicians assess inherited risk, guide treatment decisions, and offer genetic counselling and cascade testing to affected families.

How to Prepare

  • No special preparation like fasting is required.
  • The sample can be whole blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card.
  • Please carry all previous eye examination reports and clinical history for correlation.
  • A genetic counselling session should be completed to draw a pedigree of family members affected with glaucoma.
  • Samples must be labelled correctly with the patient's name, date of birth, and collection date.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"An ophthalmologist may order this NGS test when a patient has open-angle glaucoma with a strong family history, early onset, or atypical clinical features. The genetic result must be correlated with comprehensive eye examination findings, tonometry, gonioscopy, and visual field analysis."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory instructions
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or finger-prick blood spot / extracted DNA submission

Sample Stability

Whole blood in EDTA: transport to the laboratory as soon as possible; avoid extreme temperature conditions.
FTA card sample: stable at room temperature and can be transported by courier.
Extracted DNA: requires cold transport; follow the laboratory's specific instructions.
Sample Rejection Criteria:
  • Unlabelled or incorrectly labelled specimen
  • Clotted or haemolysed blood sample
  • Insufficient sample quantity
  • Inappropriate tube or container
  • Sample received after prolonged transit without proper storage

Understanding Your Results

The test result is interpreted by clinical genetics professionals. If a disease-causing pathogenic or likely pathogenic variant in the MYOC gene is identified, it may confirm the diagnosis of open-angle glaucoma type 1A in the appropriate clinical and family context.
📊

No pathogenic variant detected

A negative result does not exclude glaucoma caused by other genes or non-genetic factors. Continue regular ophthalmic monitoring and clinical evaluation.

📊

Pathogenic or likely pathogenic variant detected

Confirms the presence of a MYOC-associated glaucoma-causing variant. Genetic counselling and cascade testing of family members should be arranged.

📊

Variant of uncertain significance (VUS)

Clinical significance is currently unknown. Additional family segregation testing and clinical correlation may be required.

⚠️ When to Consult a Doctor:

Consult an ophthalmologist or clinical geneticist immediately if you have a family history of MYOC glaucoma, elevated eye pressure, or symptoms such as progressive loss of peripheral vision, halos, blurred vision, eye pain, or headaches.

Limitations

  • ⚠NGS may not detect all types of genetic changes such as large structural rearrangements or deep intronic mutations in all cases
  • ⚠A negative result does not exclude glaucoma caused by other genes or non-genetic causes
  • ⚠A variant of uncertain significance (VUS) may require additional family studies and further testing
  • ⚠This test is not a substitute for a comprehensive ophthalmic examination

Risks & Considerations

  • ●Minimal risk of bruising or slight bleeding at the blood collection site
  • ●Rare possibility of a vasovagal episode during blood draw
  • ●No major physical risks associated with genetic testing, but psychological or familial implications may arise after result disclosure

Interfering Factors

  • ●Incorrect patient identification on the sample or request form
  • ●Sample contamination with another person's DNA
  • ●Previous bone marrow transplant from another individual can affect genetic interpretation
  • ●Incomplete clinical history and missing family pedigree may reduce interpretation accuracy

Compare With Similar Tests

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Frequently Asked Questions

What is the cost of the MYOC Gene Glaucoma Open Angle Type 1A NGS Genetic Test?
The test costs INR 20000 at DNA Labs India. The MRP may be higher, but the online booking price is a special discounted price of Rs 20000.0.
What is the MYOC gene and why is it tested?
The MYOC gene provides instructions for making myocilin, a protein found in the trabecular meshwork of the eye. Mutations in MYOC can cause blockage of aqueous humor outflow, increased intraocular pressure, and open-angle glaucoma type 1A.
What are the symptoms of MYOC-associated open-angle glaucoma?
Symptoms may include gradual loss of peripheral vision, tunnel vision in advanced stages, blurred vision, halos around lights, eye pain, and headaches. Early stages may be asymptomatic, making regular eye examinations essential.
Who should undergo this MYOC NGS genetic test?
Individuals with a family history of open-angle glaucoma type 1A, those with early-onset glaucoma, unexplained optic nerve damage, or elevated IOP with an open drainage angle may benefit. A clinical geneticist or ophthalmologist should recommend the test.
What sample type is required for the MYOC gene NGS test?
The sample can be blood, extracted DNA, or one drop of blood on an FTA card. Blood is usually collected in an EDTA vacutainer.
Is fasting required before this genetic test?
No, fasting is not required for this MYOC gene NGS genetic test. You can eat and drink normally before sample collection.
How long will the test reports take?
The reports are generally available within 3 to 4 weeks after the sample reaches the laboratory. This time allows for DNA extraction, NGS sequencing, bioinformatics analysis, and clinical interpretation.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings for this test in many cities across India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, and others.
What does a positive MYOC gene test result mean?
A positive result means a pathogenic or likely pathogenic variant was detected in the MYOC gene. This supports the diagnosis of MYOC-associated open-angle glaucoma type 1A and indicates a possible inherited risk for family members.
What does a negative MYOC gene test result mean?
A negative result means no disease-causing variant was detected in the MYOC gene. However, it does not completely rule out glaucoma caused by other genetic or non-genetic factors.
Will I receive raw data files with my genetic test report?
DNA Labs India is transparent and will share raw data files, including FASTQ and VCF files, along with the conclusive clinical report for this test. Ask for raw data when booking the test.
Which doctor should be consulted if my test result is abnormal?
You should consult an ophthalmologist for glaucoma management and a clinical geneticist for genetic counselling, family risk assessment, and cascade testing of at-risk relatives.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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