CXCR4 Gene WHIM syndrome NGS Genetic Test
Short Name: CXCR4 WHIM Syndrome NGS Test
Also known as: WHIM Syndrome Genetic Test, CXCR4 Mutation Analysis, WHIM Syndrome NGS Panel, CXCR4 Gene Sequencing Test, WHIM Syndrome DNA Test
CXCR4 Gene WHIM syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the CXCR4 Gene WHIM Syndrome NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the CXCR4 gene that cause WHIM syndrome. This test enables definitive molecular diagnosis of WHIM syndrome, differentiates it from other primary immunodeficiency disorders with overlapping clinical features, guides targeted treatment decisions including immunoglobulin replacement and G-CSF therapy, facilitates genetic counseling for affected families, enables carrier detection and prenatal testing in at-risk families, and supports clinical research and genotype-phenotype correlation studies.
- Test Code
- 5172
- CPT Code
- 81479
- ICD Code
- D81.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Analysis
Sample Collection
No special preparation such as fasting is required. A genetic counseling session is recommended prior to sample collection to discuss the test purpose, implications, and to draw a pedigree chart of family members. Provide complete clinical history of the patient including infection history, immunoglobulin levels, and previous laboratory results.
Method: Venipuncture / FTA Card Blood Spot
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA (lavender-top) vacutainer tube. Alternatively, one drop of blood can be spotted on an FTA card. The sample is labeled with patient details and transported to the laboratory under appropriate conditions.
Report Delivery
The blood sample is processed in the molecular genetics laboratory where DNA is extracted and prepared for NGS analysis. The patient may resume normal activities immediately after blood collection. Results are typically available within 3 to 4 weeks and will be delivered via online portal, email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the CXCR4 Gene WHIM Syndrome NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the CXCR4 gene that cause WHIM syndrome. This test enables definitive molecular diagnosis of WHIM syndrome, differentiates it from other primary immunodeficiency disorders with overlapping clinical features, guides targeted treatment decisions including immunoglobulin replacement and G-CSF therapy, facilitates genetic counseling for affected families, enables carrier detection and prenatal testing in at-risk families, and supports clinical research and genotype-phenotype correlation studies.
How to Prepare
- Collect 3-5 mL venous blood in EDTA (lavender-top) vacutainer
- Alternatively, spot one drop of blood on an FTA card
- Label the sample clearly with patient name, date of birth, and sample ID
- Do not freeze the blood sample; store at room temperature (15-25°C)
- Transport the sample to the laboratory within 48 hours of collection
- Avoid heparin anticoagulant as it may interfere with NGS library preparation
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"WHIM syndrome is a rare but clinically significant primary immunodeficiency disorder that is frequently underdiagnosed. Patients presenting with recurrent bacterial and viral infections, unexplained neutropenia, persistent warts, and low immunoglobulin levels should be evaluated for CXCR4 gene mutations. Early molecular diagnosis through NGS testing allows for timely initiation of immunoglobulin replacement therapy and G-CSF treatment, significantly improving patient outcomes and quality of life. Genetic confirmation also enables accurate family counseling and carrier testing."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in heparin anticoagulant
- Hemolyzed or severely lipemic blood sample
- Sample received without proper labeling or identification
- Sample older than 48 hours at room temperature without refrigeration
- Insufficient sample volume for DNA extraction
Understanding Your Results
Pathogenic Variant Detected
Confirms molecular diagnosis of WHIM syndrome. The detected CXCR4 mutation is known to cause the disease. Clinical correlation and genetic counseling are recommended. Family screening should be considered.
Likely Pathogenic Variant Detected
Strong evidence supports this variant as disease-causing. Clinical correlation with patient symptoms and immunological findings is recommended. Genetic counseling and possible family studies are advised.
Variant of Uncertain Significance (VUS)
A genetic variant was identified but current evidence is insufficient to classify it as pathogenic or benign. Clinical correlation is essential. Repeat testing or family studies may help clarify significance.
Likely Benign Variant Detected
The detected variant is unlikely to be associated with WHIM syndrome. Clinical correlation is recommended if symptoms persist. Consider other differential diagnoses.
No Pathogenic Variant Detected
No disease-causing mutations were identified in the CXCR4 gene. This result does not completely exclude WHIM syndrome if caused by variants in non-coding regions or other genetic mechanisms. Clinical correlation and further evaluation may be warranted.
Consult a healthcare professional if you or your child experience recurrent severe infections (bacterial, viral, or fungal), persistent warts that do not respond to treatment, unexplained low white blood cell counts, or have a family history of immunodeficiency disorders. If genetic test results indicate a pathogenic or likely pathogenic variant, or a variant of uncertain significance, seek genetic counseling and immunological evaluation promptly.
Limitations
- ⚠This test does not detect large structural rearrangements beyond the detection capability of NGS
- ⚠Variants of uncertain significance (VUS) may be identified and require clinical correlation
- ⚠This test analyzes only the CXCR4 gene and does not screen for mutations in other immunodeficiency-associated genes
- ⚠A negative result does not completely exclude WHIM syndrome if caused by regulatory region mutations or epigenetic changes
- ⚠Results should always be interpreted in conjunction with clinical findings and other laboratory investigations
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Very small risk of infection at the needle insertion site
- ●Psychological impact of genetic diagnosis on patient and family members
- ●Possibility of identifying variants of uncertain significance requiring further evaluation
Interfering Factors
- ●Recent blood transfusion within the past 4 weeks may affect DNA quality
- ●Degraded or insufficient DNA sample may impact sequencing accuracy
- ●Presence of somatic mosaicism may lead to variant detection at low allele frequency
- ●Heparin-contaminated samples may interfere with NGS library preparation
Compare With Similar Tests
| Test | CXCR4 Gene WHIM syndrome NGS Genetic Test | Sanger Sequencing of CXCR4 Gene | Primary Immunodeficiency Gene Panel (Multi-gene) | Immunoglobulin Level Testing (IgG, IgA, IgM) |
|---|---|---|---|---|
| Comparison | CXCR4 Gene WHIM syndrome NGS Genetic Test |
Frequently Asked Questions
What is WHIM syndrome?
What causes WHIM syndrome?
What is the CXCR4 gene and what does it do?
How is WHIM syndrome diagnosed?
What does the CXCR4 Gene WHIM Syndrome NGS Genetic Test involve?
Who should get tested for WHIM syndrome?
What is the cost of the CXCR4 Gene WHIM Syndrome NGS Genetic Test?
How long does it take to get the test results?
Is WHIM syndrome inherited?
What treatment options are available for WHIM syndrome?
Is home sample collection available for this test?
Can this genetic test be performed on children?
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