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FISH, Myeloid, Trisomy 8 and Chromosome 20q Deletion
Test Code17913
CPT Codes
88271 (x2), 88275
Includes
If results are not possible from the originally ordered Cytogenetics test, the test will be cancelled and automatically replaced with non-orderable test code Cytogenetics Communication for reporting purposes.
Preferred Specimen
5 mL whole blood or 3 mL bone marrow collected in a sodium heparin (green-top) tube
Minimum Volume
3 mL whole blood • 1 mL bone marrow
Other Acceptable Specimens
EDTA (lavender-top) tube
Instructions
Clinical history and reason for referral are required with test order. Prior therapy and bone marrow transplant history should be provided with test order.
Transport Temperature
Room temperature
Specimen Stability
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Methodology
Fluorescence in situ Hybridization (FISH)
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Monday-Sunday All Shifts Report available: 5 Days
Reference Range
See Laboratory Report
Clinical Significance
This test uses fluorescence in situ hybridization (FISH) to detect trisomy 8 and deletion of chromosome 20q, del(20q), in patients with myeloid disorders. It may be used to aid standard cytogenetic testing to increase the detection rate of these abnormalities when the result of that testing is uncertain or when the specimen is suboptimal [1,2]. Identification of trisomy 8 and/or del(20q) in patients with myeloid disorders may inform prognosis and aid in follow-up testing to monitor treatment outcomes [3-6].
Trisomy 8 and del(20q) are two of the most common cytogenetic abnormalities in patients with myeloid disorders, such as myelodysplastic neoplasms (MDS), myeloproliferative neoplasms (MPNs), and acute myeloid leukemia (AML). Trisomy 8 is associated with intermediate risk in both MDS and AML [3-5]. del(20q) is associated with favorable risk in patients with MDS and poor response to treatment and reduced survival in those with AML [5-7].
This assay does not detect other cytogenetic alterations that may be present and therefore is not meant as a stand- alone test for the evaluation of myeloid neoplasia. In most situations, it should be performed in conjunction with chromosome analysis, other FISH testing, and/or chromosome microarray analysis.
Trisomy 8 and del(20q) have also been described in non- malignant conditions. In the absence of defining morphological criteria, detection of these abnormalities is not sufficient for a diagnosis of MDS [8]. Therefore, the results of this assay should be interpreted in the context of clinical and other laboratory findings.
References:
1. Karkera AC, et al. Blood. 2012;120(21):3855.
2. Jenkins RB, et al. Blood. 1992;79(12):3307-3315.
3. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Myelodysplastic syndromes. [v.2.2025].
4. Hemsing AL, at al. Expert Rev Hematol. 2019;12(11): 947-958.
5. Greenberg PL, et al. Blood. 2012;120(12):2454-2465.
6. Paulsson K, Johansson B. Pathol Biol (Paris). 2007;55(1): 37-48.
7. Chahoud J, et al. Blood. 2015;126(23):1369.
8. Swerdlow S, et al, eds. WHO Classification of Tumors of Haematopoietic and Lymphoid Tissues. Vol 2. 4th ed. IARC Press; 2017:104.
Trisomy 8 and del(20q) are two of the most common cytogenetic abnormalities in patients with myeloid disorders, such as myelodysplastic neoplasms (MDS), myeloproliferative neoplasms (MPNs), and acute myeloid leukemia (AML). Trisomy 8 is associated with intermediate risk in both MDS and AML [3-5]. del(20q) is associated with favorable risk in patients with MDS and poor response to treatment and reduced survival in those with AML [5-7].
This assay does not detect other cytogenetic alterations that may be present and therefore is not meant as a stand- alone test for the evaluation of myeloid neoplasia. In most situations, it should be performed in conjunction with chromosome analysis, other FISH testing, and/or chromosome microarray analysis.
Trisomy 8 and del(20q) have also been described in non- malignant conditions. In the absence of defining morphological criteria, detection of these abnormalities is not sufficient for a diagnosis of MDS [8]. Therefore, the results of this assay should be interpreted in the context of clinical and other laboratory findings.
References:
1. Karkera AC, et al. Blood. 2012;120(21):3855.
2. Jenkins RB, et al. Blood. 1992;79(12):3307-3315.
3. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Myelodysplastic syndromes. [v.2.2025].
4. Hemsing AL, at al. Expert Rev Hematol. 2019;12(11): 947-958.
5. Greenberg PL, et al. Blood. 2012;120(12):2454-2465.
6. Paulsson K, Johansson B. Pathol Biol (Paris). 2007;55(1): 37-48.
7. Chahoud J, et al. Blood. 2015;126(23):1369.
8. Swerdlow S, et al, eds. WHO Classification of Tumors of Haematopoietic and Lymphoid Tissues. Vol 2. 4th ed. IARC Press; 2017:104.
