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FISH, Chromosome -5/Deletion 5q31
Test Code16664
CPT Codes
88271 (x2), 88275
Preferred Specimen
3 mL bone marrow or 5 mL whole blood collected in a sodium heparin (green-top) tube
Minimum Volume
1 mL bone marrow • 3 mL whole blood
Other Acceptable Specimens
Sodium heparin (royal blue-top) tube • Sodium heparin lead-free (tan-top) tube
Transport Container
Sodium heparin (green-top) tube
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
Mon-Thurs
Reference Range
See Laboratory Report
Clinical Significance
This fluorescence in situ hybridization (FISH) assay detects monosomy 5 and deletion in chromosome 5q31. The results of this test may aid in the diagnosis and prognostic assessment of acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS).
Chromosome 5 abnormalities are recurrent genetic abnormalities associated with myeloid disorders, including AML and MDS. In patients with AML, the presence of monosomy 5 or del(5q) indicates poor/adverse prognosis [1]. Loss of 5q due to unbalanced translocation or del(5q) is one of the defining cytogenetic abnormalities of AML, myelodysplasia-related (AML-MR) [2]. In patients with MDS, del(5q) is one of the MDS-associated karyotypes and can be used to help establish the diagnosis [3]. According to the Revised International Prognostic Scoring System (IPSS-R), the presence of del(5q) (with or without a second abnormality) in patients with MDS indicate good prognosis [4].
A combination of genetic techniques is often involved in identifying genetic abnormalities. FISH testing is complementary to conventional cytogenetic analysis (karyotyping) and can be used to detect common cytogenetic abnormalities. However, because FISH is limited to probing specific chromosomal regions, it does not replace conventional cytogenetic analysis or chromosomal microarray for screening unknown abnormalities.
The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.
References
1. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Acute myeloid leukemia. Version 3.2023. Updated April 5, 2023. https://www.nccn.org
2. Khoury DJ, et al. Myeloid proliferations and neoplasms. In: WHO Classification of Tumours Editorial Board. The World Health Organization Classification of Haematolymphoid Tumours. 5 Beta V2 ed. IARC Press; 2022:chap 2. Accessed June 16, 2023. https://tumourclassification.iarc.who.int
3. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Myelodysplastic syndromes. Version 1.2023. Updated September 12,2022. https://www.nccn.org
4. Greenberg PL, et al. Blood. 2012;120(12):2454-2465.
Chromosome 5 abnormalities are recurrent genetic abnormalities associated with myeloid disorders, including AML and MDS. In patients with AML, the presence of monosomy 5 or del(5q) indicates poor/adverse prognosis [1]. Loss of 5q due to unbalanced translocation or del(5q) is one of the defining cytogenetic abnormalities of AML, myelodysplasia-related (AML-MR) [2]. In patients with MDS, del(5q) is one of the MDS-associated karyotypes and can be used to help establish the diagnosis [3]. According to the Revised International Prognostic Scoring System (IPSS-R), the presence of del(5q) (with or without a second abnormality) in patients with MDS indicate good prognosis [4].
A combination of genetic techniques is often involved in identifying genetic abnormalities. FISH testing is complementary to conventional cytogenetic analysis (karyotyping) and can be used to detect common cytogenetic abnormalities. However, because FISH is limited to probing specific chromosomal regions, it does not replace conventional cytogenetic analysis or chromosomal microarray for screening unknown abnormalities.
The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.
References
1. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Acute myeloid leukemia. Version 3.2023. Updated April 5, 2023. https://www.nccn.org
2. Khoury DJ, et al. Myeloid proliferations and neoplasms. In: WHO Classification of Tumours Editorial Board. The World Health Organization Classification of Haematolymphoid Tumours. 5 Beta V2 ed. IARC Press; 2022:chap 2. Accessed June 16, 2023. https://tumourclassification.iarc.who.int
3. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Myelodysplastic syndromes. Version 1.2023. Updated September 12,2022. https://www.nccn.org
4. Greenberg PL, et al. Blood. 2012;120(12):2454-2465.
Performing Laboratory
| Quest Diagnostics Nichols Institute-Chantilly VA |
| 14225 Newbrook Drive |
| Chantilly, VA 20151-2228 |
