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| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
FISH, ALL, Extended Panel
Test Code40050
CPT Codes
88271 (x16), 88275 (x8)
Includes
11q (MLL), 4,10,17, 8q (MYC), 14q (IGH), t(9;22), t(12;21), 19p (E2A), 9p (CDKN2A)
Preferred Specimen
3 mL bone marrow or 5 mL whole blood collected in a sodium heparin (green-top) tube
Minimum Volume
1 mL
Other Acceptable Specimens
Whole blood or bone marrow collected in: Sodium heparin (royal blue-top) or sodium heparin lead-free (tan-top) tube
Instructions
Submit 1 to 3 mL of bone marrow or 3 to 5 mL peripheral blood in a green-top (sodium heparin) vacutainer tube and send at room temperature. Other vacutainer tubes containing sodium heparin are acceptable.
Note: Samples must be received in Chantilly, Monday through Friday a.m. within 24 hours of collection.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Note: Samples must be received in Chantilly, Monday through Friday a.m. within 24 hours of collection.
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: 6-8 days
Reference Range
See Laboratory Report
Clinical Significance
This panel uses fluorescence in situ hybridization (FISH) to detect an extended set of common genetic abnormalities associated with B-cell acute lymphoblastic leukemia (B-ALL) and may aid in risk stratification and treatment decisions. These genetic abnormalities include the following: MYC rearrangement, the CDKN2A deletion, IGH rearrangement, TCF3 (E2A) rearrangement resulting from the t(1;19)(q23;p13) translocation, the BCR/ABL1 fusion gene resulting from the t(9;22)(q34;q11.2) translocation, the ETV6/RUNX1 (TEL/AML1) fusion gene resulting from the t(12;21)(p13;q22) translocation, KMT2A (MLL) rearrangement, intrachromosomal amplification of chromosome 21 (iAMP21), and trisomy of chromosomes 4, 10, and 17.
While laboratory diagnosis of B-ALL generally requires morphologic evaluation and immunophenotyping, identifying genetic abnormalities is essential for risk stratification and patient management [1,2]. The College of American Pathologists and the American Society of Hematology recommend testing children with suspected or confirmed B-ALL for the following: the BCR/ABL1 fusion gene resulting from the t(9;22)(q34;q11.2) translocation, the ETV6/RUNX1 fusion gene resulting from the t(12;21)(p13;q22) translocation, KMT2A translocation, iAMP21, and trisomy 4 and 10 [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, especially cryptic ones not identified by karyotyping, such as the ETV6/RUNX1 fusion gene caused by t(12;21)(p13;q22) and iAMP21 (also detectable with FISH for ETV6/RUNX1) [1,2]. 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. 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 8, 2023. https://tumourclassification.iarc.who.int
2. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Acute lymphoblastic leukemia. Version 2.2023. Updated July 28, 2023. https://www.nccn.org
3. Arber DA, et al. Arch Pathol Lab Med. 2017;141(10):1342-1393
While laboratory diagnosis of B-ALL generally requires morphologic evaluation and immunophenotyping, identifying genetic abnormalities is essential for risk stratification and patient management [1,2]. The College of American Pathologists and the American Society of Hematology recommend testing children with suspected or confirmed B-ALL for the following: the BCR/ABL1 fusion gene resulting from the t(9;22)(q34;q11.2) translocation, the ETV6/RUNX1 fusion gene resulting from the t(12;21)(p13;q22) translocation, KMT2A translocation, iAMP21, and trisomy 4 and 10 [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, especially cryptic ones not identified by karyotyping, such as the ETV6/RUNX1 fusion gene caused by t(12;21)(p13;q22) and iAMP21 (also detectable with FISH for ETV6/RUNX1) [1,2]. 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. 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 8, 2023. https://tumourclassification.iarc.who.int
2. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Acute lymphoblastic leukemia. Version 2.2023. Updated July 28, 2023. https://www.nccn.org
3. Arber DA, et al. Arch Pathol Lab Med. 2017;141(10):1342-1393
