LBR Gene Pelger-Huet anomaly NGS Genetic Test
Short Name: LBR Gene NGS
Also known as: Pelger-Huet Anomaly Genetic Test, LBR Gene Mutation Analysis, NGS for Pelger-Huet Anomaly
LBR Gene Pelger-Huet anomaly 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 3-4 weeks from sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic variants in the LBR gene that cause Pelger-Huet Anomaly. It is indicated for individuals with characteristic neutrophil morphology on peripheral smear, a family history of PHA, or unexplained hematological abnormalities. The test aids in confirming the diagnosis, assessing inheritance patterns, and guiding genetic counseling.
- Test Code
- 5898
- CPT Code
- 81479
- ICD Code
- D72.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a clinical history and genetic counseling session is recommended before testing.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is drawn by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No restrictions. Resume normal activities immediately.
Timeline: 3-4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the LBR gene that cause Pelger-Huet Anomaly. It is indicated for individuals with characteristic neutrophil morphology on peripheral smear, a family history of PHA, or unexplained hematological abnormalities. The test aids in confirming the diagnosis, assessing inheritance patterns, and guiding genetic counseling.
How to Prepare
- For blood: Use EDTA tube, mix gently.
- For FTA card: Apply one drop of blood onto the designated circle, air dry.
- Label sample with patient ID and date.
- Transport at ambient temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Pelger-Huet anomaly is often benign, but genetic confirmation is essential to rule out acquired forms and guide family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit (>7 days) without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Pelger-Huet Anomaly. Genetic counseling recommended for family members.
Likely pathogenic variant detected
Highly suggestive of PHA; further family segregation analysis may be advised.
Variant of uncertain significance (VUS)
Cannot confirm or exclude PHA; additional testing or family studies may be needed.
No pathogenic variant detected
Reduces likelihood of LBR-related PHA, but does not rule out other genetic causes.
Consult a geneticist or hematologist if you have abnormal neutrophil morphology, recurrent infections, or a family history of Pelger-Huet Anomaly. Also, if you are planning a family and have a known LBR mutation, seek preconception counseling.
Limitations
- ⚠This test detects mutations only in the LBR gene; other genes may be involved in rare cases.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠NGS may not detect large deletions/duplications or deep intronic variants.
- ⚠Test does not assess functional impact of variants.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings (unrelated to PHA)
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Recent blood transfusion (may dilute patient's DNA)
- ●Bone marrow transplantation (may reflect donor DNA)
Compare With Similar Tests
| Test | LBR Gene Pelger-Huet anomaly NGS Genetic Test | Peripheral Blood Smear | Sanger Sequencing for LBR Gene | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | LBR Gene Pelger-Huet anomaly NGS Genetic Test | Microscopic examination shows characteristic bilobed neutrophils, but cannot confirm genetic cause. | Targeted single-gene sequencing, lower cost but may miss large deletions. | Comprehensive, but more expensive and may identify incidental findings. |
Frequently Asked Questions
What is Pelger-Huet Anomaly?
What are the symptoms of Pelger-Huet Anomaly?
How is Pelger-Huet Anomaly diagnosed?
What is the cost of the LBR Gene Pelger-Huet Anomaly NGS Genetic Test?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
Will I receive raw data files?
Can this test be done during pregnancy?
What does a negative result mean?
Is home sample collection available?
How can I book this test?
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