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CPOX Gene Coproporphyria NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CPOX Gene Coproporphyria NGS Genetic Test

Short Name: CPOX Gene Coproporphyria NGS Test

Also known as: CPOX Mutation Analysis, Coproporphyria Genetic Test, Hepatic Coproporphyria NGS Test

CPOX Gene Coproporphyria 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.

Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the CPOX Gene Coproporphyria NGS Genetic Test is to diagnose Coproporphyria by identifying mutations in the CPOX gene. This test aids in confirming the disorder, guiding treatment plans, and facilitating genetic counseling for affected individuals and their families.

Test Code
1953
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

No special preparation is required. Provide clinical history and undergo genetic counseling if recommended.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein or a finger prick for FTA card collection by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities unless otherwise advised.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling as part of pre-test information.
2
During the Test:Sample collection via blood draw or FTA card, followed by DNA extraction and NGS analysis in the lab.
3
After the Test:Results are available in 3-4 weeks. Review with a healthcare provider for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of the CPOX Gene Coproporphyria NGS Genetic Test is to diagnose Coproporphyria by identifying mutations in the CPOX gene. This test aids in confirming the disorder, guiding treatment plans, and facilitating genetic counseling for affected individuals and their families.

How to Prepare

  • Fasting is not required
  • Bring valid ID and prescription if available
  • Ensure proper identification of the sample

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This test is crucial for diagnosing Coproporphyria, a rare genetic disorder, and helps in guiding treatment and genetic counseling for affected individuals and families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood samples: stable at 2-8°C for up to 7 days
FTA cards: stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Insufficient sample volume
  • Incorrectly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the CPOX gene. A positive result confirms Coproporphyria, while a negative result suggests no mutations detected, but does not exclude other conditions.
📊

Normal

No pathogenic variants detected in the CPOX gene. Coproporphyria is unlikely, but clinical correlation is advised.

📊

Abnormal

Pathogenic variants detected in the CPOX gene, indicative of Coproporphyria. Genetic counseling and medical management are recommended.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms of Coproporphyria, have a family history of the disorder, or after receiving test results for further evaluation and management.

Limitations

  • May not detect all possible mutations in the CPOX gene
  • Requires interpretation by a genetic specialist
  • Results should be correlated with clinical symptoms and family history

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection
  • Psychological impact of genetic results; counseling recommended

Interfering Factors

  • Sample contamination
  • Incorrect sample collection or handling
  • DNA degradation

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ComparisonCPOX Gene Coproporphyria NGS Genetic Test

Frequently Asked Questions

What is Coproporphyria?
Coproporphyria is a rare genetic disorder caused by mutations in the CPOX gene, leading to impaired heme production and symptoms like abdominal pain, nausea, and seizures.
How is the CPOX Gene Coproporphyria NGS Genetic Test performed?
The test uses next-generation sequencing (NGS) technology to analyze DNA from a blood or FTA card sample for mutations in the CPOX gene.
What does a positive test result mean?
A positive result indicates pathogenic mutations in the CPOX gene, confirming Coproporphyria. Genetic counseling and medical management are advised.
Is the test painful?
The test involves a standard blood draw, which may cause minor discomfort but is generally not painful.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What are the risks of the test?
Risks are minimal and include standard blood draw risks like bruising. Genetic results may have psychological implications, so counseling is recommended.
How accurate is the test?
The test is highly accurate using NGS technology, but no genetic test is 100% definitive. Results should be interpreted with clinical findings.
What should I do if I have a family history of Coproporphyria?
Consider genetic testing and counseling to assess risk, especially if you exhibit symptoms.
Is the test covered by insurance?
Coverage varies by insurance policy. Check with your provider for details on schemes like PMJAY, CGHS, etc.
What is the cost of the test?
The cost is INR 20,000, including test fees and home collection in select cities.
Where can I get the test done?
The test is available at DNA Labs India with home collection in cities like Mumbai, Delhi, Bangalore, and many others across India.
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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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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