Deletion 5q31, Monosomy 5, FISH, EGR1 !!! NOTE: The contents are valid only for: 11/28/2024 !!!
| WSLH Department: | Cytogenetics |
| WSLH Test Code: | 870F45 |
| Day(s) Performed: | Monday-Friday 7:45 AM - 4:30 PM, Saturday 7:45 AM - 12:00 PM |
| Turn-around Time: | Approximately 4-6 days. (Reports are issued Monday-Friday 7:45 AM - 4:30 PM) |
| Recommended Uses: | Detection of deletion 5q/monosomy 5 associated with myeloid disorders including AML and MDS. Aids in diagnosis of hematologic disorders and in 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: | |
| Additional Tests Performed: | |
| Patient Preparations: | |
| Specimen Requirements: | 0.5-1.0 ml early aspirate bone marrow collected in sodium heparin OR 1-2 ml whole blood collected in sodium heparin vacuum type tube |
| Specimen Handling & Transport: | Store and transport specimens at room temperature (may transport with coolant during hot weather, >85 degrees F). DO NOT FREEZE. The laboratory must receive specimens within 24 to 48 hours of collection. |
| Collection Kit/Container: | |
| 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. |
| 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
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| 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 gain or loss of 5q31 (EGR1), and the reference range for false positives based on the number of cells with an abnormal signal pattern in 200 control cells. Result written using current International System for Human Cytogenetic Nomenclature (ISCN) and interpretation of results. |
| Limitations: | 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. |
| Methodology: | Fluorescence in situ hybridization performed on interphase nuclei using a DNA probe (LSI EGR1/D5S721/D5S23 dual color; Abbott Molecular) specific for the EGR1 gene in 5q31 and the D5S721/D5S23 loci in 5p15.2. This probe is designed to detect deletion 5q/monosomy 5. |
| Includes: | FISH analysis of 200 cells for deletion of the EGR1 gene |
| CPT Code: | 88271x2, 88275 |
| Price: | For pricing information, please call 608-262-0402. |