PDGFRB Rearrangement, FISH

PDGFRB Rearrangement, FISH
WSLH Department: Cytogenetics
WSLH Test Code:882F90
Includes:FISH analysis of 200 interphase cells for rearrangement of the PDGFRB gene
Methodology:**(CPT Codes: 88271x2, 88275)** Fluorescence in situ hybridization performed on interphase nuclei using a break-apart DNA probe (LSI PDGFRB dual color, break-apart rearrangement; Kreatech Diagnostics) specific for the PDGFRB (platelet-derived growth factor receptor, beta polypeptide) gene in 5q33. This probe is designed to detect rearrangements of the PDGFRB gene including translocations and deletions. Translocation partner chromosomes cannot be determined by this test.
Availability:Monday-Friday 7:45 AM - 4:30 PM, Saturday 7:45 AM - 12:00 PM
Turn-around Time:Approximately 2-4 days. (Reports are issued Monday-Friday 7:45 AM - 4:30 PM)
Recommended Uses:Detection of rearrangements of the PDGRFB gene associated with myeloproliferative neoplasms including CMML and JMML. Aids in diagnosis and prognosis of hematologic disorders and for monitoring disease after treatment or bone marrow transplant. May be performed in conjunction with other FISH assays, chromosome analysis or as an independent test.
Contraindications: 
Specimen Requirements:Bone marrow: 0.5-1.0 ml early aspirate bone marrow collected in sodium heparin OR Blood: 1-2 ml whole blood collected in sodium heparin vacuum type tube
Collection Kit/Container: 
Patient Preparation: 
Collection Instructions:** Bone marrow: 0.5-1.0 ml bone marrow from the 1st or 2nd aspirate. Material submitted for cytogenetic analysis must be from an early aspirate to avoid dilution with blood. Rinse the syringe to be used for aspiration by drawing sodium heparin solution (1000 USP units/ml) into the syringe and then expelling all the heparin solution (over-heparinization is toxic to the cells). Transfer the marrow to a sterile, sodium heparin vacuum type tube for delivery to State Lab. If an aspirate is unsuccessful, a 10mm bone core biopsy may be submitted in a sterile transport medium with sodium heparin. ** Blood: Draw blood using aseptic techniques into a sterile sodium heparin vacuum type tube. Invert tube to mix. If using larger tubes, draw full tube of blood to avoid over-treatment with anti-coagulant.
Specimen Handling and Transport:Store and transport specimens at room temperature (may transport with coolant during hot, >85 degrees F weather). DO NOT FREEZE. The laboratory must receive specimens within 24 hours of collection.
Unacceptable Conditions:Bone marrow/blood that is clotted or hemolyzed is not acceptable. Bone marrow/blood must not be frozen. Plasma and serum are not acceptable.
Requisition Form:Cytogenetics Lab Neoplasia Diagnosis Form #132
Required Information:Laboratory regulations require the following minimum information to be provided on the requisition form for a specimen to be accepted for testing: Patient name or unique identifier; date and time of collection, patient date of birth and sex, specimen type/site of collection, test request(s), reason for referral, clinician name and UPIN/NPI, and address for reporting results. Please be certain that name/identifier on the form matches that on the specimen label.
Results include:Number of nuclei examined, percent positive for rearrangement, and the reference range for false positives based on the average number of cells with an abnormal signal pattern in two hundred control cells. Karyotype written using International System for Human Cytogenetic Nomenclature (ISCN) 2013 and interpretation of results.
Limitations:Detects rearrangements involving this gene; the translocation partner chromosome cannot be determined by this test. Failure to identify an abnormal clone by FISH does not rule out the presence of other abnormalities in the specimen.
Additional Tests Recommended: 
Additional Comments:If FISH assay is not performed in conjunction with chromosome analysis there is an additional charge for processing the specimen.
Additional Tests Performed: 

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