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CYP4V2 Gene Bietti Crystalline Corneoretinal Dystrophy NGS Genetic Test

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CYP4V2 Gene Bietti Crystalline Corneoretinal Dystrophy NGS Genetic Test

Short Name: CYP4V2 NGS Genetic Test

Also known as: CYP4V2 Gene Testing, BCCD Genetic Test, CYP4V2 NGS Test

CYP4V2 Gene Bietti Crystalline Corneoretinal Dystrophy 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 available in 3 to 4 weeks from the date the sample is received at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestUnisexAll Ages🏠 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 CYP4V2 NGS genetic test is to detect pathogenic variants in the CYP4V2 gene that cause Bietti crystalline corneoretinal dystrophy. It helps confirm the diagnosis, differentiate BCCD from other retinal dystrophies, enable carrier detection in at-risk relatives, and provide information for genetic counselling and reproductive planning.

Test Code
3769
ICD Code
H35.54
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are typically available in 3 to 4 weeks from the date the sample is received at the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Please bring your doctor's prescription and any relevant medical records. Inform our team if you have a bleeding disorder or are on anticoagulant therapy.

Method: Blood draw or FTA card spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a small sample of blood from a vein in your arm. The procedure takes a few minutes and is performed using sterile equipment.

Step 3

Report Delivery

You may resume normal activities immediately. The collection site may have a small bruise, which usually heals within a few days.

Timeline: Results are typically available in 3 to 4 weeks from the date the sample is received at the laboratory.

Patient Instructions

1
Before the Test:No fasting is required. Genetic counselling is recommended before the test to discuss potential outcomes and implications. A pedigree chart of affected family members may be drawn during the genetic counselling session.
2
During the Test:The blood sample or FTA card will be collected at your preferred location or at one of our collection centres. The sample is then securely transported to our NGS laboratory for analysis.
3
After the Test:Once the sample is received, sequencing will begin. Reports will be delivered within 3 to 4 weeks. Your doctor or genetic counsellor will discuss the results and next steps with you.

About This Test

Who Should Get This Test

The purpose of this CYP4V2 NGS genetic test is to detect pathogenic variants in the CYP4V2 gene that cause Bietti crystalline corneoretinal dystrophy. It helps confirm the diagnosis, differentiate BCCD from other retinal dystrophies, enable carrier detection in at-risk relatives, and provide information for genetic counselling and reproductive planning.

How to Prepare

  • No special dietary preparation is needed
  • No fasting is required
  • Inform the healthcare provider if you are on any medications
  • Ensure the identity details on the sample form are correct

Doctor's Notes

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

"Genetic counselling is essential for inherited retinal disorders to understand the inheritance pattern and recurrence risk for family members."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL whole blood or FTA card spot
ContainerEDTA Vacutainer or FTA Card
Collection MethodBlood draw or FTA card spot

Sample Stability

Room temperature: 24 hours
Refrigerated (2-8°C): 1 week
Frozen (-20°C): 1 month
Sample Rejection Criteria:
  • Clotted blood sample
  • Hemolyzed blood sample
  • Insufficient sample quantity
  • Incorrectly labelled or unlabelled sample

Understanding Your Results

The CYP4V2 NGS genetic test identifies sequence variants in the CYP4V2 gene. Results are classified according to ACMG guidelines into pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign. This interpretation helps in confirming the clinical diagnosis of Bietti crystalline corneoretinal dystrophy.
Negative: No pathogenic or likely pathogenic variant identified in the CYP4V2 gene. BCCD remains possible if clinical features are suggestive; other genetic and non-genetic causes should be considered.
Positive: Pathogenic or likely pathogenic variant identified in CYP4V2. This confirms the diagnosis of BCCD in an individual with compatible clinical features.
Heterozygous carrier: A single pathogenic variant identified. The individual is a carrier for autosomal recessive BCCD and is typically unaffected, but may have a family history.
Variant of uncertain significance (VUS): A DNA change is found but its clinical significance is not yet clear. Further family studies and functional analysis may help reclassify the variant.
⚠️ When to Consult a Doctor:

If you or a family member experience symptoms such as night blindness, progressive visual field loss, blurred vision, or crystalline deposits in the retina or cornea, consult an ophthalmologist. Genetic counselling and testing can provide a definitive diagnosis and inform family planning decisions.

Limitations

  • ⚠This NGS test detects point mutations and small insertions/deletions in the CYP4V2 coding region and splice sites.
  • ⚠Large structural rearrangements, deep intronic variants, and regulatory region mutations may not be detected by this test.
  • ⚠Variants of uncertain significance (VUS) may be reported and require additional family segregation analysis or functional studies.
  • ⚠Negative results do not completely exclude the possibility of BCCD because mutation outside the analysed regions or in other genes may be responsible.

Risks & Considerations

  • ●Minimal pain or bruising at the blood collection site
  • ●Infection (very rare)
  • ●Emotional distress from positive genetic findings

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Contamination during sample collection
  • ●Presence of homologous pseudogenes
  • ●Mosaic variants below detection limit

Compare With Similar Tests

TestCYP4V2 Gene Bietti Crystalline Corneoretinal Dystrophy NGS Genetic Test
ComparisonCYP4V2 Gene Bietti Crystalline Corneoretinal Dystrophy NGS Genetic Test

Frequently Asked Questions

What is Bietti crystalline corneoretinal dystrophy?
Bietti crystalline corneoretinal dystrophy (BCCD) is a rare inherited eye disorder that affects the retina and cornea. It causes crystalline deposits, progressive vision loss, and night blindness. It is caused by mutations in the CYP4V2 gene.
What is the role of the CYP4V2 gene?
The CYP4V2 gene provides instructions for making an enzyme involved in fatty acid breakdown. Mutations in this gene lead to accumulation of fatty acids in the retina and cornea, causing damage to these tissues.
How is CYP4V2-related BCCD inherited?
BCCD is inherited in an autosomal recessive pattern. Individuals must inherit two mutated copies of CYP4V2, one from each parent, to develop the condition.
What are the early symptoms of BCCD?
Early symptoms typically appear in early adulthood and include difficulty seeing in dim light or at night, loss of peripheral vision, blurred vision, and small yellow-white crystals in the retina and cornea.
Who should undergo this NGS genetic test?
Individuals with symptoms suggestive of BCCD, those with a family history of BCCD, and at-risk family members considering carrier or presymptomatic testing should undergo this test after clinical evaluation.
How much does the CYP4V2 NGS genetic test cost?
The test costs INR 20000 at DNA Labs India. This includes the NGS analysis, genetic counselling session, and free home sample collection for online bookings.
What sample is required for the test?
The sample can be 5 mL of blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card. Each sample type is acceptable for NGS analysis.
Do I need to fast before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
How long will it take to get the report?
The report is usually available in 3 to 4 weeks from the time the sample is received at the laboratory.
Can this NGS test detect all CYP4V2 mutations?
NGS can detect point mutations and small insertions/deletions in the coding regions and splice sites of CYP4V2. Large structural rearrangements or deep intronic mutations may not be detected by this test.
What does a positive result mean?
A positive result indicates that a pathogenic or likely pathogenic variant in the CYP4V2 gene was identified. In a symptomatic individual, this confirms the diagnosis of Bietti crystalline corneoretinal dystrophy.
Is genetic counselling included in the testing process?
Yes, genetic counselling is an important part of the testing process at DNA Labs India. It helps interpret the results, discusses inheritance patterns, and addresses family planning concerns.
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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