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ZNF469 Gene Brittle Cornea Syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ZNF469 Gene Brittle Cornea Syndrome NGS Genetic Test

Short Name: ZNF469 BCS NGS Test

Also known as: Brittle cornea syndrome genetic test, ZNF469 gene mutation analysis, ZNF469 NGS sequencing

ZNF469 Gene Brittle Cornea Syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger sequencing confirmation if required on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are provided in 3 to 4 weeks after sample submission.. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)🏠 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 primary purpose of this test is to identify disease-causing sequence variants in the ZNF469 gene and to support a clinical diagnosis of brittle cornea syndrome. It is also used to evaluate individuals with a positive family history of known ZNF469 mutations, to facilitate reproductive and preconception counselling, and to provide a baseline for long-term monitoring. This test is not a general screening test and should be ordered only in the appropriate clinical scenario.

Test Code
3781
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are provided in 3 to 4 weeks after sample submission.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger sequencing confirmation if required
Step 1

Sample Collection

No fasting is required. The referring doctor should document the clinical indication and family history. A genetic counselling session to draw a pedigree chart is recommended before testing. The patient should bring a valid ID and prescription/referral if available.

Method: Peripheral blood draw / FTA card blood spot / DNA submission

Step 2

Laboratory Analysis

A small blood sample is collected in an EDTA tube by a phlebotomist, or one drop of blood is applied to an FTA card. The sample is carefully labelled and sent to the DNA Labs India processing laboratory.

Step 3

Report Delivery

After collection, you can resume normal activities. The laboratory will process the sample using NGS technology. Your healthcare provider will receive the report and discuss the result, its medical implications, and next steps with you.

Timeline: Reports are provided in 3 to 4 weeks after sample submission.

Patient Instructions

1
Before the Test:No special preparation is needed. The ordering doctor may refer you for pre-test genetic counselling. A detailed clinical and family history will help the laboratory and clinician interpret the result.
2
During the Test:The sample collection is simple and usually takes a few minutes. A trained professional will collect blood or guide you on FTA card sample collection. The sample is then sent to the laboratory for NGS analysis.
3
After the Test:You can return to normal activities immediately. The report will be shared through the selected delivery method once the analysis is complete. A genetic counsellor or doctor should explain the result and its implications.

About This Test

Who Should Get This Test

The primary purpose of this test is to identify disease-causing sequence variants in the ZNF469 gene and to support a clinical diagnosis of brittle cornea syndrome. It is also used to evaluate individuals with a positive family history of known ZNF469 mutations, to facilitate reproductive and preconception counselling, and to provide a baseline for long-term monitoring. This test is not a general screening test and should be ordered only in the appropriate clinical scenario.

How to Prepare

  • Use an EDTA tube for blood collection when required.
  • If using an FTA card, apply one drop of blood to each marked circle and allow it to air-dry completely.
  • Label the sample with patient name, date and time of collection.
  • Transport the sample at room temperature unless otherwise instructed.
  • If extracted DNA is provided, store it appropriately before dispatch.

Doctor's Notes

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

"Management of brittle cornea syndrome requires a multidisciplinary approach. Genetic confirmation of a ZNF469 variant allows informed surveillance planning, family screening and preconception counselling. This NGS test provides accurate sequencing to guide clinical decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for chosen sample type (one drop for FTA card)
ContainerEDTA Vacutainer / FTA Card / DNA Vial
Collection MethodPeripheral blood draw / FTA card blood spot / DNA submission

Sample Stability

Whole blood in EDTA: 3-4 days at 2-8 degree C if stored before processing.
FTA card: stable at room temperature for several weeks.
Extracted DNA: long-term storage at -20 degree C is recommended.
Sample Rejection Criteria:
  • Unlabelled or misidentified sample.
  • Insufficient sample volume or poor DNA quality.
  • Clotted or grossly hemolyzed blood.
  • Wet, damaged or improperly stored FTA card.

Understanding Your Results

Interpretation of the ZNF469 gene test should be carried out by a clinical geneticist in light of the patient's clinical findings, family history, and ophthalmological examination. The report is informational and should not replace the clinical judgment of the treating physician.
Positive: Presence of a pathogenic or likely pathogenic variant in ZNF469 supports the diagnosis of brittle cornea syndrome.
Negative: No pathogenic variant identified; clinical diagnosis remains based on clinical judgment and additional genes should be considered if the phenotype is strong.
Variant of Uncertain Significance (VUS): The clinical impact is unknown; family studies and further genetic evaluation may be recommended.
Carrier result: In an autosomal recessive condition, a single ZNF469 pathogenic variant may indicate carrier status. If two variants are present in trans, the diagnosis is confirmed.
⚠️ When to Consult a Doctor:

Consult an ophthalmologist and a clinical geneticist if you or your child has corneal thinning or rupture, progressive blurred vision, joint hypermobility, skin hyperextensibility, or a family history of brittle cornea syndrome.

Limitations

  • ⚠This test is designed for ZNF469 gene analysis and does not assess all genetic causes of connective tissue disorders.
  • ⚠Large deletions, duplications, complex structural variants and certain regulatory region variants may not be identified.
  • ⚠Variants of uncertain significance may require additional family segregation studies.
  • ⚠A negative result does not completely exclude brittle cornea syndrome when clinical suspicion is high.

Risks & Considerations

  • ●Minimal risk from a routine blood draw, such as bruising or soreness.
  • ●Potential psychological impact of receiving genetic results.
  • ●No radiation or contrast exposure is involved.

Interfering Factors

  • ●Low DNA concentration or degraded DNA may reduce sequencing quality.
  • ●Contamination of the sample during collection or handling.
  • ●Deep intronic variants or large structural rearrangements may not be detected by standard NGS.
  • ●Interpretation depends on accurate clinical history and family history.

Compare With Similar Tests

TestZNF469 Gene Brittle Cornea Syndrome NGS Genetic Test
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Frequently Asked Questions

What is the ZNF469 Gene Brittle Cornea Syndrome NGS Genetic Test?
This is a targeted next-generation sequencing test that analyses the ZNF469 gene to detect sequence variants associated with brittle cornea syndrome. It is used as a diagnostic aid in patients with corneal fragility, rupture, or suggestive connective tissue features.
How much does the test cost at DNA Labs India?
The test is priced at Rs 20000.0 (INR 20,000). This includes the NGS gene analysis, clinical interpretation, and transparent data files. There are no hidden charges for the test when booked online.
What sample should I provide?
You can provide blood in an EDTA tube, one drop of blood on an FTA card, or extracted DNA. The sample type can be selected based on convenience and the laboratory instructions provided.
Is fasting required for this test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
What is the turnaround time for the report?
Reports are generally available within 3 to 4 weeks from the date the sample is received at the laboratory.
Do you offer home sample collection?
Yes. DNA Labs India provides free home sample collection for online bookings of this test across many cities in India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata and other major metros and non-metros.
Who should order this test?
The test should be ordered by an ophthalmologist or a clinical geneticist, ideally after a complete eye examination and genetic counselling. The clinical history and pedigree chart are important for variant interpretation.
What does a positive result mean?
A positive result identifies a pathogenic or likely pathogenic variant in ZNF469, supporting a clinical diagnosis of brittle cornea syndrome. At-risk family members should receive formal genetic counselling.
What does a negative result mean?
A negative result means no pathogenic ZNF469 variant was identified. This does not completely exclude the condition because mutations in regulatory or intronic regions, or other genes, could exist. Clinical correlation is essential.
Will I receive raw data files?
Yes. DNA Labs India provides raw data files (FASTQ and VCF) along with the conclusive clinical report. This transparency allows independent reanalysis and future reinterpretation if new genes become clinically relevant.
Is this test covered by insurance?
Coverage depends on your insurance policy and whether the test is declared medically necessary by your doctor. You should check directly with your insurer. Government schemes like PMJAY, CGHS, ECHS and ESIC generally do not cover the test in the standard package.
Can brittle cornea syndrome be cured?
There is currently no cure for brittle cornea syndrome. Management is multidisciplinary and focuses on regular ophthalmologic follow-up, corneal protection, avoidance of trauma, and surgical treatment of ruptures when required.
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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