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FECH Gene Protoporphyria, erythropoietic type 1 NGS Genetic Test

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FECH Gene Protoporphyria, erythropoietic type 1 NGS Genetic Test

Short Name: FECH Gene EPP NGS Test

Also known as: Protoporphyria, erythropoietic type 1, Erythropoietic Protoporphyria, EPP

FECH Gene Protoporphyria, erythropoietic type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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, typically diagnosed in childhood🏠 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

To diagnose Erythropoietic Protoporphyria by identifying mutations in the FECH gene using Next-Generation Sequencing, enabling accurate diagnosis, management, and genetic counseling.

Test Code
5116
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
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

No special preparation required. Provide clinical history and family pedigree chart during genetic counseling.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist using sterile equipment.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Keep the area clean.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a healthcare provider, provide clinical history, and undergo genetic counseling to draw a family pedigree chart.
2
During the Test:Sample collection via blood draw or FTA card, followed by DNA extraction and NGS analysis.
3
After the Test:Wait for results (3-4 weeks), then review with a genetic counselor for interpretation and next steps.

About This Test

Who Should Get This Test

To diagnose Erythropoietic Protoporphyria by identifying mutations in the FECH gene using Next-Generation Sequencing, enabling accurate diagnosis, management, and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection tubes or FTA cards
  • Label samples correctly
  • Transport samples at ambient temperature

Doctor's Notes

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

"Genetic testing for EPP is crucial for early diagnosis and management. Consult a geneticist for personalized care and family planning advice."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improper labeling
  • Contaminated sample

Understanding Your Results

Results will indicate the presence or absence of mutations in the FECH gene associated with Erythropoietic Protoporphyria.
Positive: Pathogenic mutation detected, consistent with EPP diagnosis
Negative: No pathogenic mutation detected, but clinical correlation is advised
Variant of uncertain significance: Further testing or family studies may be recommended
⚠️ When to Consult a Doctor:

If you experience symptoms of EPP, have a family history, or receive a positive genetic test result, consult a geneticist or dermatologist for management and counseling.

Limitations

  • ⚠May not detect all possible mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●Minimal discomfort during blood draw

Interfering Factors

  • ●Poor sample quality
  • ●DNA degradation
  • ●Contamination during collection

Compare With Similar Tests

TestFECH Gene Protoporphyria, erythropoietic type 1 NGS Genetic Test
ComparisonFECH Gene Protoporphyria, erythropoietic type 1 NGS Genetic Test

Frequently Asked Questions

What is FECH Gene Protoporphyria?
FECH Gene Protoporphyria, or Erythropoietic Protoporphyria (EPP), is a rare genetic disorder caused by mutations in the FECH gene, leading to protoporphyrin accumulation and severe skin sensitivity to sunlight.
What are the symptoms of EPP?
Symptoms include severe skin sensitivity to sunlight, burning or itching sensations, redness, swelling, blisters, scarring, and sometimes stomach pain or nausea, typically starting in childhood.
How is EPP diagnosed?
EPP is diagnosed through genetic testing, such as the FECH Gene NGS Test, which identifies mutations in the FECH gene. Additional tests like skin biopsy or urine tests may support diagnosis.
What is the cost of the FECH Gene NGS Test in India?
The cost is INR 20000 at DNA Labs India, with free home sample collection available across many cities.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test covered by insurance?
Insurance coverage may vary; it is advisable to check with your insurance provider. Genetic counseling can help determine eligibility.
What sample type is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Can children undergo this genetic test?
Yes, the test can be performed on individuals of all ages, including children, especially if symptoms or family history suggest EPP.
What are the treatment options for EPP?
Treatment focuses on minimizing sun exposure, using protective clothing, and managing symptoms. There is no cure, but genetic testing aids in early management.
How accurate is the NGS Genetic Test for EPP?
NGS technology provides high accuracy in detecting FECH gene mutations, but results should be interpreted by a genetic counselor in clinical context.
Who should consider this genetic test?
Individuals with symptoms of EPP, a family history of the disorder, or those suspected of having porphyria should consider this test after consulting a healthcare provider.
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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For Hospitals & Clinics

Reference 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.

LIMS Integration

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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.

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