CBFB Rearrangement, inv(16)(p13.1q22), FISH

CBFB Rearrangement, inv(16)(p13.1q22), FISH
WSLH Department: Cytogenetics
WSLH Test Code:882F80
Includes:FISH analysis of 200 cells for rearrangement of the gene for the beta subunit of core binding factor (CBFB)
Methodology:**(CPT Codes: 88271x2, 88275)** Fluorescence in situ hybridization performed on interphase nuclei using a break-apart DNA probe (LSI CBFB dual color, rearrangement; Vysis, Inc) specific for the CBFB gene in 16q22. This probe is designed to detect rearrangements of the CBFB gene including inversions and translocations.
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 CBFB gene associated with acute myeloid leukemia (AML) with inversion 16 and myeloproliferative neoplasms with eosinophilia. Aid in diagnosis 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:0.5-1.0 ml early aspirate bone marrow OR 1-2 ml whole blood collected in sodium heparin vacuum type tube
Collection Kit/Container: 
Patient Preparation: 
Collection Instructions:**Bone marrow: 0.5-1.0ml bone marrow from 1st or 2nd aspirate. Material submitted for cytogenetic analysis must be from an early aspirate to avoid dilution with blood. Draw sodium heparin solution (1000 USP units/ml) into the syringe to be used for aspiration and then expel (over-heparinization is toxic to the cells). Transfer the marrow to a sterile, Na-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 Na-Heparin. **Blood: Draw blood using aseptic techniques into a sterile Na-Heparin vacuum type tube. Invert tube to mix. If using larger tubes, draw to full volume to avoid over-treatment with heparin.
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.
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 CBFB rearrangement, and the reference range for false positives based on the number of cells with an abnormal signal pattern in 200 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. This probe will not detect small deletions or duplications or base pair changes.
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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