FISH - PDGFR Beta (5q33) Gene Rearrangement Test
Short Name: PDGFR Beta FISH Test
Also known as: PDGFR Beta Rearrangement FISH Test, FISH for 5q33 Gene Rearrangement, PDGFRB FISH Test
FISH - PDGFR Beta (5q33) Gene Rearrangement Test test available at DNA Labs India for ₹6,000. Uses FISH (Fluorescence In Situ Hybridization) on 5 mL (3 mL min.) whole blood OR 4 mL (2 mL min.) Bone Marrow samples. Results in Report available in 4 working days 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 the FISH - PDGFR Beta (5q33) Gene Rearrangement Test is to detect specific genetic rearrangements in the PDGFR Beta gene, which are implicated in the development of various myeloid neoplasms. This test helps in confirming diagnoses, determining prognosis, and identifying patients who may benefit from targeted therapies, thereby improving treatment outcomes.
- Test Code
- 595
- Price
- ₹6,000
- Sample Type
- 5 mL (3 mL min.) whole blood OR 4 mL (2 mL min.) Bone Marrow
- Result Time
- Report available in 4 working days from sample receipt
- Fasting Required
- No
- Method
- FISH (Fluorescence In Situ Hybridization)
Sample Collection
Duly filled Chromosome & FISH analysis Requisition Form (Form 17) is mandatory. Ensure the patient is informed about the procedure and has no contraindications for blood draw or bone marrow aspiration.
Method: Venipuncture for whole blood; bone marrow aspiration for bone marrow sample
Laboratory Analysis
For whole blood, collect 5 mL (minimum 3 mL) in sodium heparin tubes via venipuncture. For bone marrow, aspirate 4 mL (minimum 2 mL) into sodium heparin tubes. Label tubes correctly and transport at 18-22°C. Do not freeze.
Report Delivery
Apply pressure to the collection site to prevent bleeding. Monitor for any adverse reactions. Ensure samples are shipped promptly to the laboratory for processing.
Timeline: Report available in 4 working days from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the FISH - PDGFR Beta (5q33) Gene Rearrangement Test is to detect specific genetic rearrangements in the PDGFR Beta gene, which are implicated in the development of various myeloid neoplasms. This test helps in confirming diagnoses, determining prognosis, and identifying patients who may benefit from targeted therapies, thereby improving treatment outcomes.
How to Prepare
- Use 2 Green Top (Sodium Heparin) tubes for sample collection
- Ship samples at 18-22°C; do not freeze
- Complete and attach the Chromosome & FISH analysis Requisition Form (Form 17)
- Ensure sample is collected by a trained phlebotomist or healthcare professional
- Label tubes with patient details, date, and time of collection
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This test is essential for identifying PDGFR Beta gene rearrangements, which are key in diagnosing specific subtypes of myeloid neoplasms such as chronic myelomonocytic leukemia, guiding targeted therapy decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Unlabeled or mislabeled samples
- Insufficient sample volume
- Sample collected in wrong container (e.g., EDTA instead of sodium heparin)
- Sample hemolyzed or clotted
- Requisition form not completed
Understanding Your Results
Positive (Rearrangement Detected)
A positive result indicates a PDGFR Beta gene rearrangement, which is commonly seen in certain myeloid neoplasms such as chronic myelomonocytic leukemia. This finding may guide targeted therapy options, such as tyrosine kinase inhibitors.
Action: Consult with an oncologist or hematologist for further evaluation, prognosis assessment, and treatment planning.
Negative (Rearrangement Not Detected)
A negative result means no PDGFR Beta gene rearrangement was identified by this test. However, this does not rule out other genetic abnormalities or conditions.
Action: Correlate with clinical symptoms and consider additional tests if myeloid neoplasms are still suspected.
Consult a doctor if you experience symptoms such as unexplained fatigue, frequent infections, weight loss, night sweats, or abnormal blood counts, especially if you have a known history of blood disorders. After receiving test results, consult with a hematologist or oncologist for personalized advice and management.
Limitations
- ⚠This test detects only PDGFR Beta rearrangements and not other genetic mutations
- ⚠Requires adequate number of viable cells for analysis
- ⚠False negatives may occur if the rearrangement is below the detection limit
- ⚠Results should be correlated with clinical findings and other diagnostic tests
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Infection risk for bone marrow aspiration (rare)
- ●Slight dizziness or fainting during blood draw
- ●Bleeding or hematoma at the collection site
Interfering Factors
- ●Improper sample collection or handling
- ●Sample contamination
- ●Insufficient cellularity in bone marrow samples
- ●Use of incorrect anticoagulant tubes
Compare With Similar Tests
| Test | FISH - PDGFR Beta (5q33) Gene Rearrangement Test | FISH - BCR-ABL1 Gene Rearrangement Test | Karyotyping | PCR for PDGFR Beta | Bone Marrow Biopsy |
|---|---|---|---|---|---|
| Comparison | FISH - PDGFR Beta (5q33) Gene Rearrangement Test | While FISH for PDGFR Beta detects rearrangements specific to certain myeloid neoplasms, BCR-ABL1 FISH targets the Philadelphia chromosome associated with chronic myeloid leukemia (CML). Both use FISH technology but for different genetic abnormalities. | Karyotyping provides a broader view of chromosomal abnormalities but may have lower sensitivity for specific rearrangements compared to FISH. FISH for PDGFR Beta offers higher specificity for detecting this gene rearrangement. | PCR can detect specific fusion transcripts but requires prior knowledge of breakpoints. FISH visualizes rearrangements at the cellular level and can detect various types of rearrangements without needing specific primers. | A bone marrow biopsy assesses cell morphology and architecture but may not detect specific gene rearrangements. FISH for PDGFR Beta complements biopsy by providing genetic insights for targeted diagnosis. |
Frequently Asked Questions
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