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FISH, CLL, ATM, Deletion 11q22.3
Test CodeFISH,CLL DEL11Q22.3(O
CPT Codes
88271, 88275
Includes
Note: If results are not possible, the test order may be canceled and replaced with a Cytogenetics Communication.
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
Bone marrow submitted in culture transport medium (transport medium available upon request)
Instructions
Clinical history/reason for referral is required with test order. Prior therapy and transplant history should be provided with test order.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: See instructions
Refrigerated: See instructions
Frozen: See instructions
Refrigerated: See instructions
Frozen: See instructions
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 the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Daily; Report available: 5 days
Reference Range
See Laboratory Report
Clinical Significance
This fluorescence in situ hybridization (FISH) assay detects deletion of the ATM gene region in chromosome 11q22.3. The results of this test may aid in the prognostic assessment and treatment selection for chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).
The most common genetic abnormalities of CLL/SLL are del(13q), del(11q), trisomy 12, and del (17p). At least one of these 4 genetic abnormalities can be detected with FISH in >80% of patients with CLL/SLL [1]. Evaluation of these frequent genetic abnormalities is recommended for the investigation of prognosis [2] and may inform treatment decisions [3]. Del(11q) results in the loss of the ATM gene and can be detected with FISH in 18% of patients with CLL/SLL [1]. The presence of del(11q) is associated with marked lymphadenopathy and unfavorable prognosis [2,3].
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. Dohner H, et al. N Engl J Med. 2000;343(26):1910-1916.
2. Naresh KN, et al. B-cell lymphoid proliferations and lymphomas. In: WHO Classification of Tumours Editorial Board. The World Health Organization Classification of Haematolymphoid Tumours. 5 Beta V2 ed. IARC Press; 2022:chap 4. Accessed June 16, 2023. https://tumourclassification.iarc.who.int
3. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Chronic lymphocytic leukemia/small lymphocytic lymphoma. Version 3.2023. Updated June 12, 2023. https://www.nccn.org
The most common genetic abnormalities of CLL/SLL are del(13q), del(11q), trisomy 12, and del (17p). At least one of these 4 genetic abnormalities can be detected with FISH in >80% of patients with CLL/SLL [1]. Evaluation of these frequent genetic abnormalities is recommended for the investigation of prognosis [2] and may inform treatment decisions [3]. Del(11q) results in the loss of the ATM gene and can be detected with FISH in 18% of patients with CLL/SLL [1]. The presence of del(11q) is associated with marked lymphadenopathy and unfavorable prognosis [2,3].
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. Dohner H, et al. N Engl J Med. 2000;343(26):1910-1916.
2. Naresh KN, et al. B-cell lymphoid proliferations and lymphomas. In: WHO Classification of Tumours Editorial Board. The World Health Organization Classification of Haematolymphoid Tumours. 5 Beta V2 ed. IARC Press; 2022:chap 4. Accessed June 16, 2023. https://tumourclassification.iarc.who.int
3. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Chronic lymphocytic leukemia/small lymphocytic lymphoma. Version 3.2023. Updated June 12, 2023. https://www.nccn.org
Last Updated: October 13, 2021
