ETV6/RUNX1 (TEL/AML1) Fusion, t(12;21)(p13;q22), FISH

ETV6/RUNX1 (TEL/AML1) Fusion, t(12;21)(p13;q22), FISH
WSLH Department: Cytogenetics
WSLH Test Code:881F67
CPT Code: 
Includes:FISH analysis of 200 cells for fusion of the ETV6(TEL)and RUNX1(AML1)genes
Methodology:**(CPT Codes: 88271x2, 88275)** Fluorescence in situ hybridization performed on interphase nuclei using dual fusion DNA probes (LSI TEL/AML1 dual color, dual fusion; Vysis, Inc) specific for the ETV6(TEL)gene in 12p13 and the RUNX1(AML1)gene in 21q22.
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 the ETV6/RUNX1 (TEL/AML1) fusion associated with ALL. Also detects gain of RUNX1 consistent with gene amplification or hyperdiploidy; loss of ETV6 consistent with deletion 12p. 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.
Specimen Requirements:0.5-1.0 ml early aspirate bone marrow
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. 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 ETV6/RUNX1 (TEL/AML1) fusion detected, 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:Reference range for false positive is 0-2.3% for standard dual fusion pattern. 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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