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CXCR4 Gene Mutation Analysis Test: Booking, Price, and Results

About CXCR4 Gene Mutation Analysis Test: Booking, Price, and Results

Field	Value
Also Known As	C-X-C Chemokine Receptor Type 4 Mutation Analysis, CXCR4 Somatic Mutation Test, Leukocyte-Derived Seven Transmembrane Domain Receptor Mutation Analysis
Sample Type	FFPE Tissue Block
Fasting Required	No
Report Time	25 days
Recommended For	Adults of any gender with suspected or confirmed Waldenström macroglobulinaemia or lymphoplasmacytic lymphoma; individuals being evaluated for WHIM syndrome
Price	Starting at ₹9,600

What is a CXCR4 Gene Mutation Analysis Test?

The CXCR4 Gene Mutation Analysis test is a specialised molecular genetic test that detects mutations in the CXCR4 gene, which provides instructions for making a receptor protein on white blood cells. Doctors typically order this test for patients with suspected or confirmed Waldenström macroglobulinaemia (WM), lymphoplasmacytic lymphoma (LPL), or a rare immune disorder called WHIM syndrome. The test is performed on a formalin-fixed paraffin-embedded (FFPE) tissue block sample and uses next-generation sequencing (NGS), an advanced DNA-reading method.

What Does a CXCR4 Gene Mutation Analysis Test Measure?

The CXCR4 Gene Mutation Analysis examines a specific region of the CXCR4 gene, located on chromosome 2, to identify mutations that affect the receptor protein's function. The test focuses on the C-terminal end of the gene, covering the region c.898–1059 (amino acids 300–353).

The key elements assessed are listed below:

Component	What It Tells Us
CXCR4 gene region (c.898–1059)	Whether mutations are present in the C-terminal end of the gene
Hotspot mutation c.1013C>G/A, p.S338X	Detects the most common clinically significant point mutation in this region
Mutation status (wild-type or mutated)	Guides prognosis and treatment decisions in WM and LPL

Mutations in this region are found in approximately 30-40% of patients with LPL/WM and are almost always seen alongside the MYD88 L265P mutation.

Why is a CXCR4 Gene Mutation Analysis Test Done?

This test helps doctors confirm a diagnosis, understand disease behaviour, and plan the most appropriate treatment for certain blood cancers and immune conditions.

Common Symptoms That May Require This Test

A doctor may order a CXCR4 Gene Mutation Analysis when a patient presents with the following symptoms:

Blurry vision, double vision, or sudden vision loss
Ringing in the ears or sudden hearing loss
Unexplained nosebleeds or bleeding gums
Recurrent infections or poor immune response
Low blood cell counts (pancytopenia) on a routine blood test
Nerve damage symptoms such as numbness or tingling (neuropathy)
Enlarged organs such as the liver or spleen (organomegaly)

Conditions This Test Can Help Detect

The test assists in identifying and managing the following conditions:

Lymphoplasmacytic lymphoma and Waldenström macroglobulinaemia (LPL/WM)
WHIM syndrome (Warts, Hypogammaglobulinaemia, Infections, and Myelokathexis), a rare inherited immune disorder
Drug resistance patterns in lymphoplasmacytic lymphoma

CXCR4 Gene Mutation Analysis Test for Chronic Disease Monitoring

The CXCR4 Gene Mutation Analysis test plays an important role in ongoing disease management for patients with WM or LPL. Mutation status is a key factor in predicting how well a patient will respond to BTK inhibitor therapy, particularly ibrutinib (a type of targeted cancer medicine). Patients with a detected CXCR4 mutation tend to have lower rates of major and deep responses to ibrutinib compared to those with wild-type (unmutated) CXCR4. The test may be repeated to monitor disease progression or treatment response over time.

How to Prepare and What to Expect

Preparation for this test depends on how the tissue sample is collected. Your doctor will guide you based on your specific situation.

Do You Need to Fast?

No fasting is required before this test.

Practical Tips Before Your Test

The following steps will help ensure a smooth experience and accurate results:

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 all medications you are currently taking, especially blood thinners.
If the test is being done for a known diagnosis of WM or LPL, bring all previous medical records.
Wear comfortable, loose clothing if a bone marrow or tissue sample is being collected at the centre.
Be aware that results may take up to 25 days, so plan follow-up appointments accordingly.

Step-by-Step Procedure

The procedure for this test involves the collection and analysis of a tissue sample. The steps below describe what typically happens:

Your doctor will explain the sample collection procedure and obtain your consent before proceeding.
A tissue sample (FFPE tissue block) is prepared from a biopsy already performed or scheduled by your treating doctor.
The tissue block is transported to the laboratory at ambient temperature (18 to 28 degrees Celsius).
In the laboratory, genomic DNA is extracted from the tissue. The relevant C-terminal region of the CXCR4 gene is then amplified using PCR (a method used to make many copies of a specific DNA segment).
The amplified DNA is analysed using NGS (next-generation sequencing), which reads the DNA sequence to identify any mutations.
A specialist reviews the findings and prepares a detailed report, which is made available within 25 days.

Factors That Can Affect Accuracy

Several factors can influence the reliability of results.

Poor quality or degraded DNA from the tissue sample
Older paraffin blocks (generally over five years), which may reduce the ability to detect mutations
Low disease burden in the bone marrow, which can limit mutation detection sensitivity
Subclonal diversity, where different tumour cells carry different mutations
DNA that does not meet established laboratory quality criteria, leading to inconclusive or false-negative results

Understanding Your CXCR4 Gene Mutation Analysis Test Results

Results from this test are reported as either "mutation detected" or "mutation not detected". Your doctor will interpret these findings in the context of your full medical history and other test results.

Result	What It Means
Not detected (Wild-type)	No mutation found in the tested gene region; associated with a better response to BTK inhibitor therapy
Detected (Mutated)	Mutation present; found in approximately 30% to 40% of WM/LPL patients; may indicate reduced treatment response and higher disease burden

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.

Results During Special Conditions

Certain clinical situations can influence how results are interpreted.

In patients with Waldenström macroglobulinaemia, the presence of a CXCR4 mutation is associated with higher serum IgM levels (a type of antibody) and a greater risk of hyperviscosity, a condition where the blood becomes abnormally thick. In cases of WHIM syndrome, the complete set of symptoms is seen in only about 20% of patients who carry a CXCR4 mutation, which means a positive result alone is not sufficient for diagnosis.

How to Maintain Healthy Levels

The following general wellness practices are relevant for patients undergoing this test:

Attend all scheduled follow-up appointments with your haematologist (blood specialist) to monitor disease status.
Report any new or worsening symptoms, such as vision changes, unexplained bleeding, or frequent infections, to your doctor promptly.
Discuss mutation status and its implications for treatment planning with your oncologist (cancer specialist) before starting or changing any therapy.

Lupin Diagnostics CXCR4 Gene Mutation Analysis Test Price

The CXCR4 Gene Mutation Analysis test is priced starting at ₹9,600 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre; home collection is not available for this test.

City	Approximate Price (₹)
BHOPAL	9600
CHENNAI	9600
HYDERABAD	9600
KOLKATA	9600
NAVI MUMBAI	9600
PUNE	9600

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

How to Book

Follow these steps to book your CXCR4 Gene Mutation Analysis test at Lupin Diagnostics.

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 the stipulated turnaround time.

Frequently Asked Questions

The CXCR4 gene provides instructions for making a receptor protein found on the surface of white blood cells. This protein plays a role in cell growth, division, and survival. When mutations occur in this gene, they can contribute to blood cancers such as Waldenström macroglobulinaemia or to a rare immune disorder called WHIM syndrome. Testing for these mutations helps doctors understand the disease and plan treatment.

This test is recommended for patients with a suspected or confirmed diagnosis of Waldenström macroglobulinaemia, lymphoplasmacytic lymphoma, or WHIM syndrome. Your haematologist or oncologist will advise whether this test is appropriate based on your symptoms, blood test results, and clinical history.

Patients with a detected CXCR4 mutation tend to have a lower and slower response to BTK inhibitor therapy, such as ibrutinib, compared to those without the mutation. Knowing the mutation status helps doctors choose the most suitable treatment approach and set realistic expectations about how quickly a response may occur.

The level of discomfort depends on the type of sample collection. For a bone marrow procedure, patients may feel pressure or a brief sharp sensation during needle insertion. Tenderness over the area may last for a few days afterwards. The procedure is generally performed under local anaesthesia and is well-tolerated by most patients. Your doctor will explain what to expect beforehand.

A somatic mutation is an acquired change found only in tumour cells, as seen in Waldenström macroglobulinaemia. A germline mutation is inherited and present in every cell of the body, as found in WHIM syndrome. The same region of the CXCR4 gene can be affected in both conditions, but the context and implications differ significantly.

No. CXCR4 mutations are present in only 30-40% of patients with WM. This means the majority of WM patients will have a wild-type (normal) result on this test. A negative result does not exclude the diagnosis. Doctors use multiple tests and clinical findings together to reach a conclusion.