FISH, ALL, Pre-B Panel : 1001112

Test Code
MDFCPCALLAP or 1001112


Alias/See Also
ALL (B-Cell), FISH


CPT Codes
88271x9, 88275x4

Includes
Panel includes:  KMT2A (MLL) gene rearrangement (11q23), BCR/ABL1 translocation, t(9;22), ETV6/RUNX1 (TEL/AML1) translocation, t(12;21), Aneuploidy 4, 10, 17.


Instructions
Bone Marrow aspirate in a green top sodium heparin tube (3 mL, Minimum 1 mL) or Peripheral Blood in a green top sodium heparin tube (5 mL, Minimum 1  mL).
Alternative: Sodium heparin (royal blue-top) tube, Sodium heparin lead-free (tan-top) tube.


Transport Container
Blood or Bone Marrow: Do not centrifuge.


Transport Temperature
Blood or Bone Marrow: Room temperature.  Do not freeze. 


Specimen Stability
Blood and Bone Marrow: Room temperature: 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable
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)

Setup Schedule
Monday - Friday


Report Available
Up to 7 days


Limitations
Laboratory test results should always be considered in the context of clinical observations. This test was developed and its performance characteristics determined by med fusion. It has not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) as qualified to perform high complexity clinical laboratory testing.


Reference Range
An interpretive report will be provided.


Clinical Significance
This panel uses fluorescence in situ hybridization (FISH) to detect 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: KMT2A (MLL) 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, 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: trisomy 4 and 10, 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, and intrachromosomal amplification of chromosome 21 (iAMP21) [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.


Performing Laboratory
med fusion



The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.