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UROD Gene Porphyria cutanea tarda NGS Genetic Test

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UROD Gene Porphyria cutanea tarda NGS Genetic Test

Short Name: UROD PCT NGS Test

Also known as: Porphyria Cutanea Tarda Genetic Test, UROD Gene Analysis

UROD Gene Porphyria cutanea tarda NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or FTA Card samples. Results in 3-4 weeks from sample receipt. Free home collection in 300+ cities across India.

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 diagnose Porphyria Cutanea Tarda by identifying mutations in the UROD gene using NGS technology. It helps in confirming clinical suspicion, guiding treatment decisions, and providing genetic counseling for affected families.

Test Code
5119
Price
₹20,000
Sample Type
Blood, Extracted DNA, or FTA Card
Result Time
3-4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting required. Provide detailed clinical history and family pedigree chart.

Method: Venipuncture or Finger prick

Step 2

Laboratory Analysis

A blood sample will be collected by a trained professional using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. The sample will be processed and sent for analysis.

Timeline: 3-4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling session to discuss implications and draw family pedigree.
2
During the Test:Blood sample collection and processing for DNA extraction and NGS analysis.
3
After the Test:Report generation and delivery. Follow-up consultation with healthcare provider.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Porphyria Cutanea Tarda by identifying mutations in the UROD gene using NGS technology. It helps in confirming clinical suspicion, guiding treatment decisions, and providing genetic counseling for affected families.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment
  • Label the sample correctly
  • Transport at ambient temperature

Doctor's Notes

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

"Genetic testing for Porphyria Cutanea Tarda is essential for accurate diagnosis and family planning. Early detection can lead to better management outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or FTA Card
Sample VolumeAs per requirement
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or Finger prick

Sample Stability

Blood: Stable for 24 hours at room temperature
Extracted DNA: Stable for several days if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

The results of the UROD Gene NGS Test indicate the presence or absence of mutations in the UROD gene associated with Porphyria Cutanea Tarda.
📊

Pathogenic variant detected

Consistent with diagnosis of PCT. Genetic counseling recommended.

📊

No pathogenic variant detected

PCT unlikely due to UROD mutations. Consider other causes.

📊

Variant of uncertain significance

Further testing and clinical correlation advised.

⚠️ When to Consult a Doctor:

If you experience symptoms such as skin blistering, photosensitivity, or have a family history of porphyria, consult a dermatologist or geneticist immediately.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires clinical correlation
  • ⚠Not a substitute for biochemical tests in some cases

Risks & Considerations

  • ●Minimal risk associated with blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample quality issues
  • ●Contamination during collection
  • ●Technical limitations of NGS

Compare With Similar Tests

TestUROD Gene Porphyria cutanea tarda NGS Genetic Test
ComparisonUROD Gene Porphyria cutanea tarda NGS Genetic Test

Frequently Asked Questions

What is the UROD Gene Porphyria Cutanea Tarda NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the UROD gene associated with Porphyria Cutanea Tarda, aiding in diagnosis.
How much does the test cost?
The test costs INR 20000, with free home sample collection available across India.
What sample is required for the test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available within 3-4 weeks from sample receipt.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
What are the symptoms of Porphyria Cutanea Tarda?
Symptoms include photosensitivity, skin blistering, scarring, hyperpigmentation, dark urine, and abdominal pain.
How is the test performed?
The test involves collecting a blood sample, extracting DNA, and analyzing the UROD gene using NGS technology.
What does a positive result mean?
A positive result indicates the presence of pathogenic mutations in the UROD gene, suggesting a diagnosis of PCT. Genetic counseling is recommended.
Is genetic counseling provided?
Yes, genetic counseling is included as part of the test package to help interpret results and discuss implications.
Can the test be done for children?
Yes, the test can be performed on individuals of all ages, but parental consent may be required for minors.
What is the accuracy of the test?
The test uses advanced NGS technology for high accuracy in detecting UROD gene mutations, but clinical correlation is advised.
How do I book the test?
You can book the test online through DNA Labs India's website or contact them via phone or WhatsApp for assistance.
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

Your Data Privacy

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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