Background:
The newly-founded UCI Cytogenetics Clinical Laboratory is currently performing chromosome analysis (since April 2021) on Oncology specimens, and Fluorescence in Situ Hybridization (FISH) Analysis (since February 2022) on fresh Oncology specimens including bone marrow aspirates, peripheral blood and body fluids.
Specific DNA based-FISH probes/panels will be available to use in conjunction with conventional chromosome analysis for diagnosis, prognosis, and monitoring several diseases in addition to establishing and/or monitoring for abnormal clone(s).
The Laboratory started Feb. 1, 2022 the first phase (please see below***) of offering FISH testing. The following FISH probes/panels will be available during the second phase:
- ALL panel (this panel will also assess for abnormalities common in Ph-like ALL):
BCR-ABL1 fusion
ETV6 rearrangement/deletion
KMT2A (MLL) rearrangement
RUNX1 amplification
CRLF2 rearrangement
P2RY8 deletion
IGH rearrangement
BCL2 rearrangement
MYC rearrangement
IGH-MYC fusion
TP53 deletion
Hyperdiploidy or hypodiploidy using Centromere 4, 7, 10 probes
- CLL panel:
ATM deletion
13q14.3 deletion
Trisomy 12 (Dleu/Lamp/12cen)
CCND1-IGH fusion [t(11;14)]
- Mantle Cell Lymphoma:
IGH-CCND1 fusion
***First phase FISH testing:
- Basic MDS/Myeloid Panel (monosomy or deletion of chromosome -5/5q-, -7/7q-, 20q, and trisomy 8)
- Extended MDS/Myeloid Panel (Basic MDS panel plus MECOM rearrangement and TP53 deletion)
- BCR-ABL1 Fusion
- AML panel (KMT2A rearrangement, CBFB rearrangement, MECOM rearrangement RUNX1T1/RUNX1 Fusion, DEK/NUP214 Fusion, PML-RARA Fusion, TP53 deletion)
- MPN panel (Basic MDS panel plus BCR-ABL1 Fusion)
Validation for other FISH probes/panels is ongoing and additional notifications will be distributed before implementation.
Synonyms: FISH
Effective date: Nov. 1, 2022
Test methodology: Hybridization with commercial DNA probes of cultured cells or cells obtained by direct harvest. 200 interphase nuclei are scored. Two technologists analyze each probe set, and all results are expressed as the percent abnormal nuclei.
Reference interval: As per specific FISH probe validation data.
Test code: N/A
Specimen requirements:
Specimen required: Freshly collected – 2.0 ml Bone Marrow Aspirate or 3.0 ml Peripheral Blood. Minimum 50 ml of body fluids (peritoneal, pleural).
Preparation: Use Sodium Heparin (green top) preferably. EDTA (purple tube) is also acceptable. Invert several times to mix bone marrow/blood. Collect body fluids in an aseptic container.
Transport: Refer to stability criteria as shown below.
Stability: (Collection to initiation of testing)
Ambient: Preferred. Transport to cytogenetics laboratory as soon as possible, store at room temperature up to 48 hours.
Refrigerated: 2-8 degrees Celsius if more than 48 hours after collection, and up to 10 days under proper refrigeration.
Frozen: Unacceptable.
Turnaround time (TAT) after receipt:
STAT: 1-3 days
Routine: 4-10 days
Test set up frequency: Monday-Friday
Special instructions: Order individual or multiple oncology FISH probes if standard FISH panels are not desired.
Rejection criteria:
Specimens that exceed stated stability, unlabeled/mislabeled/mismatched specimens, specimens submitted in leaking containers, samples collected over ten (10) or more days ago.
Compliance category: Laboratory Developed Test (LDT)
CPT code(s):
88368
88369
88377
Additional information:
Email CytogeneticsUCI@hs.uci.edu with questions.
Time required for testing can vary depending on specimen type and probes ordered. Please indicate the names of probes needed for testing. Contact the Lab at CytogeneticsUCI@hs.uci.edu to add a probe to a current specimen.
These tests were developed, and their performance characteristics determined, by the UCI Cytogenetics Laboratory. They have not been cleared or approved by the US Food and Drug Administration. These tests were performed in a CLIA certified laboratory and are intended for clinical purposes.
A summary of all tests offered by our laboratory services can be found here: https://www.testmenu.com/uci/search?category=3
Sincerely,
Fabiola Quintero-Rivera, MD, FACMG
Professor, Departments of Pathology & Laboratory Medicine, and Pediatrics
Director, Laboratory of Clinical Cytogenetics
Edwin S. Monuki, MD, PhD
Chair, Department of Pathology & Laboratory Medicine
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