EPOR Test: Booking, Price, and Results

About EPOR Test

Field	Value
Also Known As	Erythropoietin Receptor Gene Test, EPOR Gene Sequencing Test, EPO-R Gene Test
Sample Type	FFPE Tissue Block
Fasting Required	No
Report Time	8 Days
Recommended For	All genders and ages; particularly individuals with unexplained lifelong erythrocytosis and a family history of red blood cell disorders
Price	Starting at ₹8,400

What Is an EPOR Test?

The EPOR test analyses the erythropoietin receptor gene (EPOR), which carries instructions for making a protein that controls red blood cell production. It is a specialised genetic test that detects mutations in this gene. Doctors typically request this test when a patient has persistently elevated red blood cell counts that cannot be explained by common causes. This test is also called the erythropoietin receptor gene test, EPOR gene sequencing test, or EPO-R gene test. The test uses the FISH (fluorescence in situ hybridisation) method on a tissue sample.

What Does an EPOR Test Measure?

The EPOR test examines specific parts of the EPOR gene to detect disease-causing changes. Here is what it analyses:

Component	What It Looks For
EPOR gene	Mutations, particularly in exon 8, that disrupt normal regulatory control of red blood cell production

Results are reported qualitatively, meaning the test tells you whether a disease-causing variant is present or absent, rather than giving a numerical value.

Why Is an EPOR Test Done?

This test is a specialised genetic investigation, typically ordered after routine blood tests and more common causes of elevated red blood cells have been excluded.

Common Symptoms That May Require This Test

A doctor may recommend an EPOR test when a patient experiences the following symptoms:

Persistent headaches and dizziness
Frequent nosebleeds
Shortness of breath or fatigue
Visual disturbances or tinnitus (ringing in the ears)
Tingling sensations in the fingers or toes

Conditions This Test Can Help Detect

The EPOR test can help identify the following conditions:

Type 1 familial erythrocytosis, caused by a mutation in the EPOR gene
Primary familial and congenital erythrocytosis (PFCE), characterised by isolated red blood cell excess without an enlarged spleen or secondary causes
Conditions resulting from an overactive erythropoietin receptor that signals continued red blood cell production even when not needed

How to Prepare and What to Expect

Preparing for the EPOR test is straightforward. No special preparation is required, but a few practical steps will help the process go smoothly.

Do You Need to Fast?

No fasting is required for the EPOR test. You can eat and drink normally before your appointment. Always follow instructions provided by your doctor or laboratory.

Practical Tips Before Your Test

Here are a few steps to take before your appointment:

Bring a detailed clinical history including your symptoms, previous test results, and family history, as this is required for the test
Inform your doctor about any recent blood transfusions, as these can affect DNA extraction quality
Mention all medications and supplements you are currently taking
Consider seeking genetic counselling before the test to understand what the results may mean for you and your family

Step-by-Step Procedure

The sample for this test is a formalin-fixed paraffin-embedded (FFPE) tissue block, a small piece of preserved tissue prepared in a hospital setting. The steps below describe how this sample is typically obtained:

Your doctor reviews your clinical history and confirms that a tissue biopsy is appropriate for your case.
The procedure is carried out in a hospital or clinical setting by a trained specialist. The site of the biopsy depends on which tissue is being examined.
A local anaesthetic is applied to numb the area. A small sample of tissue is removed using a needle or a minor surgical procedure.
The tissue sample is preserved in formalin and then embedded in a paraffin wax block (FFPE block); this keeps the sample stable for analysis.
The FFPE tissue block is packaged and sent to the Lupin Diagnostics laboratory and stored at room temperature between 18°C and 28°C during transit.
The laboratory analyses the sample using the FISH method, and the report is prepared within 8 days.

Factors That Can Affect Accuracy

Certain factors can influence the reliability of your results. Be aware of the following:

Recent blood transfusions, which may dilute or alter the DNA in the sample
Poor sample quality due to haemolysis (breakdown of red blood cells during collection)
Incomplete filling of the EDTA tube
Delayed or improper sample handling before dispatch

Understanding Your EPOR Test Results

Results from this test should always be reviewed with a doctor or genetic counsellor, who will consider your full clinical picture alongside the findings. The table shows general reference ranges:

Result	Interpretation
No pathogenic variant detected	Normal; no known disease-causing mutation found in the EPOR gene
Heterozygous pathogenic variant detected	Positive for primary familial and congenital erythrocytosis (PFCE)
Variant of uncertain significance (VUS)	Further clinical review and correlation required

These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.

How to Maintain Healthy Levels

While genetic results cannot be changed, the following general steps support overall wellbeing:

Stay well hydrated, particularly during long journeys or periods of inactivity, to reduce the risk of blood clot formation
Attend regular follow-up appointments with a haematologist if a pathogenic variant is identified
Encourage family members to discuss genetic counselling with their doctor if a hereditary mutation is confirmed

Lupin Diagnostics EPOR Test Price and Booking

The EPOR test cost at Lupin Diagnostics starts at ₹8,400. This test requires a visit to a Lupin Diagnostics centre; home collection is not available for this test due to the specialised sample handling and processing requirements. The table below shows indicative pricing across cities.

City	Approximate Price (₹)
BHOPAL	8400
CHENNAI	8400
HYDERABAD	8400
KOLKATA	8400
NAVI MUMBAI	8400
PUNE	8400

Prices are indicative and may vary by location. Please confirm the current price at the time of booking.

How to Book

Follow these steps for EPOR test online booking:

Select the test on the Lupin Diagnostics website.
Choose your city and preferred centre location.
Visit the centre at your scheduled time for sample collection.
Receive your report via email or WhatsApp within 8 days.

Frequently Asked Questions

The EPOR test is used to investigate unexplained lifelong erythrocytosis, a condition where red blood cell counts remain persistently elevated. It is specifically ordered when the more common JAK2 mutation has been ruled out and erythropoietin levels are normal or low. The test helps identify whether a mutation in the erythropoietin receptor gene is responsible.

This test is relevant for individuals with a lifelong, unexplained increase in red blood cells, a negative JAK2 test result, and normal or decreased erythropoietin levels. A family history of similar blood abnormalities is also a common reason for referral. Your doctor will advise whether this test is appropriate based on your clinical picture.

The sample collection for this test is carried out by a trained healthcare professional and is not typically painful. If a tissue sample is already available, no additional procedure may be needed. Your doctor will guide you on exactly what is required.

At Lupin Diagnostics, the report delivery time for this test is 8 days. Your report will be directly delivered through email or WhatsApp.

A positive result indicates the presence of an EPOR gene mutation associated with primary familial and congenital polycythaemia. The condition is generally present from birth, does not progress to leukaemia, and follows a relatively stable course. Your doctor or genetic counsellor will explain the implications for you and your family.

Yes, pathogenic variants in the EPOR gene are typically inherited in an autosomal dominant pattern. This means the condition can be passed from one parent to a child, with approximately a 50% chance of inheritance per pregnancy. Genetic counselling is recommended for family members if a pathogenic variant is confirmed.

A positive result should be discussed with a haematologist or clinical geneticist who can explain the findings in detail. Many individuals with this condition manage well with regular monitoring, and some may benefit from specific interventions to reduce complications. Your doctor will guide the next steps based on your overall health.