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EFEMP1 Gene Doyne Honeycob Retinal Dystrophy NGS Genetic Test

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EFEMP1 Gene Doyne Honeycob Retinal Dystrophy NGS Genetic Test

Short Name: EFEMP1 Doyne Honeycomb Retinal Dystrophy Test

Also known as: Doyne Honeycomb Retinal Dystrophy, Malattia Leventinese

EFEMP1 Gene Doyne Honeycob Retinal 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestAll 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 test is to detect mutations in the EFEMP1 gene using NGS technology to confirm Doyne Honeycomb Retinal Dystrophy, assist in diagnosis, guide treatment planning, and provide information for genetic counseling and family risk assessment.

Test Code
1485
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Ensure no special preparation is needed, but provide complete clinical history and family pedigree as part of genetic counseling.

Method: Venipuncture or Finger-prick

Step 2

Laboratory Analysis

Sample collection via venipuncture or finger-prick under sterile conditions by trained phlebotomists.

Step 3

Report Delivery

Store sample appropriately and transport to laboratory for NGS analysis. Follow up with genetic counseling for result interpretation.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss test implications, provide family history, and understand the testing process.
2
During the Test:Sample collection is quick and minimally invasive, typically involving a blood draw. No special procedures required during testing.
3
After the Test:Wait for 3 to 4 weeks for results. Attend post-test genetic counseling to interpret findings and plan next steps.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the EFEMP1 gene using NGS technology to confirm Doyne Honeycomb Retinal Dystrophy, assist in diagnosis, guide treatment planning, and provide information for genetic counseling and family risk assessment.

How to Prepare

  • Provide signed consent for genetic testing
  • Share detailed medical and family history
  • Avoid eating or drinking for 30 minutes before blood draw if specified
  • Follow instructions for FTA card sample if applicable

Doctor's Notes

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

"Genetic testing with NGS is essential for confirming Doyne Honeycomb Retinal Dystrophy, guiding management, and informing family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or Finger-prick

Sample Stability

Blood samples stable at room temperature for 48 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples
  • Samples without proper documentation or consent

Understanding Your Results

Interpretation of EFEMP1 gene test results involves identifying mutations associated with Doyne Honeycomb Retinal Dystrophy. Positive results confirm genetic causation, while negative results may require further investigation.
Mutation Detected: Indicates pathogenic variant in EFEMP1 gene, confirming diagnosis. Recommend genetic counseling and ophthalmologist consultation.
No Mutation Detected: EFEMP1 mutations not found, but clinical suspicion remains, consider other genetic or non-genetic causes. Repeat testing or additional tests may be advised.
Variant of Uncertain Significance: Further evaluation needed through family studies or functional assays. Genetic counseling is essential.
⚠️ When to Consult a Doctor:

Consult an ophthalmologist or genetic counselor if you experience symptoms of retinal dystrophy, have a family history, or receive positive or uncertain test results for guidance on management and family planning.

Limitations

  • ⚠May not detect all possible EFEMP1 gene mutations or structural variants
  • ⚠Results require interpretation by genetic specialists
  • ⚠Does not replace clinical eye examination for diagnosis
  • ⚠Genetic testing has psychological and familial implications

Risks & Considerations

  • ●Psychological distress from positive results
  • ●Potential for uncertain or inconclusive findings
  • ●Family dynamics impact due to genetic information
  • ●Minimal physical risks from blood draw

Interfering Factors

  • ●Poor sample quality or insufficient DNA amount
  • ●Hemolyzed or degraded blood samples
  • ●Contamination during sample collection or processing
  • ●Technical limitations of NGS in detecting certain mutation types

Compare With Similar Tests

TestEFEMP1 Gene Doyne Honeycob Retinal Dystrophy NGS Genetic Test
ComparisonEFEMP1 Gene Doyne Honeycob Retinal Dystrophy NGS Genetic Test

Frequently Asked Questions

What is Doyne Honeycomb Retinal Dystrophy?
Doyne Honeycomb Retinal Dystrophy (DHRD) is a rare inherited genetic disorder affecting the retina of the eye, characterized by progressive drusen deposits and vision loss caused by mutations in the EFEMP1 gene.
What causes Doyne Honeycomb Retinal Dystrophy?
DHRD is caused by autosomal dominant mutations in the EFEMP1 gene on chromosome 2, which encodes the fibulin-3 protein. These mutations lead to abnormal protein accumulation beneath the retina, resulting in drusen formation and retinal cell death.
What are the symptoms of Doyne Honeycomb Retinal Dystrophy?
Common symptoms include blurred or distorted central vision, difficulty seeing in low-light conditions, progressive loss of peripheral vision, and the appearance of yellowish-white honeycomb-patterned deposits visible on retinal examination.
How is Doyne Honeycomb Retinal Dystrophy diagnosed?
Diagnosis involves a comprehensive ophthalmic examination including fundoscopy, retinal imaging such as OCT and fundus autofluorescence, and confirmatory genetic testing using Next-Generation Sequencing (NGS) to identify EFEMP1 gene mutations.
What is the EFEMP1 Gene NGS Genetic Test?
It is a molecular diagnostic test that uses Next-Generation Sequencing technology to analyze the EFEMP1 gene for pathogenic mutations associated with Doyne Honeycomb Retinal Dystrophy. The test provides high-sensitivity detection of point mutations, insertions, and deletions.
What is Next-Generation Sequencing (NGS)?
NGS is an advanced high-throughput DNA sequencing technology that can simultaneously analyze multiple gene regions with high accuracy. In this test, NGS is used to comprehensively screen the EFEMP1 gene for all clinically relevant mutation types.
How much does the EFEMP1 Gene NGS Genetic Test cost?
The EFEMP1 Gene NGS Genetic Test costs INR 20,000 at DNA Labs India. This price includes sample collection, NGS analysis, a genetic counseling session, and comprehensive report generation.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for the EFEMP1 Gene NGS Genetic Test across many cities in India. You can book online and a trained phlebotomist will visit your location for blood sample collection.
What type of sample is required for the test?
The test requires a blood sample collected via venipuncture or finger-prick. Alternatively, extracted DNA or one drop of blood on an FTA card can also be used for analysis.
How long does it take to receive the test results?
Results for the EFEMP1 Gene NGS Genetic Test are typically available within 3 to 4 weeks after the laboratory receives the sample. Results are delivered via online portal, email, or WhatsApp.
Is genetic counseling included with the test?
Yes, DNA Labs India includes a genetic counseling session as part of the test package. Pre-test counseling helps you understand the implications of testing, while post-test counseling assists with interpreting results and planning next steps.
Who should consider getting the EFEMP1 Gene NGS Genetic Test?
Individuals experiencing symptoms of retinal dystrophy, those with a family history of Doyne Honeycomb Retinal Dystrophy or Malattia Leventinese, and patients recommended by an ophthalmologist for confirmatory genetic diagnosis should consider this test. It is also valuable for family planning and risk assessment.
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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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.

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