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RUNX1 (AML1) (21q22) gene rearrangement by FISH : 1003117
MessagePlease provide most recent Pathology report.
Test Code
MDFCPRUNX1 or 1003117
Alias/See Also
RUNX1 breakapart; AML1 breakapart; 21 breakapart
CPT Codes
88271x2, 88275
Instructions
Bone Marrow aspirate in a green top sodium heparin tube (2-3 mL) or Peripheral Blood in a green top sodium heparin tube (2-10 mL). Tissue also accepted.
Transport Container
Blood or Bone Marrow: Do not centrifuge. Paraffin embedded formalin fixed tissue that has been fixed in 10% neutral buffered formalin for at least 6 hours and no longer than 48 hours. Two unstained slides, with tissue of 4 microns in thickness are needed for processing, accompanied by a circled H & E clearly indicating the area to be examined.
Transport Temperature
Blood or Bone Marrow: Ambient temperature within 24 hours. Specimen can be refrigerated if not transported immediately. Do not freeze. Protect from heat with a cold pack. Paraffin embedded tissue block: Ambient or on ice pack in summer. Slides:
Ambient.
Ambient.
Specimen Stability
Blood and Bone Marrow: Ambient: 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable
Paraffin embedded tissue: Ambient: Indefinitely; Refrigerated: Indefinitely; Frozen: Unacceptable
Paraffin embedded tissue: Ambient: Indefinitely; Refrigerated: Indefinitely; Frozen: Unacceptable
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.
(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
RUNX1 (AML1) is frequently observed to be rearranged in acute leukemia. The most common rearrangements are the ETV6-RUNX1 and RUNX1-RUNX1T1 gene fusions brought about by the t(12;21)(p13;q22) and t(8;21)(q22;q22), respectively. The ETV6-RUNX1 gene fusion is observed in about 20% of B-cell AML, and the RUNX1-RUNXT1 gene rearrangement is seen in about 40% of AML M2 and 7% of overall ALL cases. Both translocations are associated with a favorable prognosis, although late relapse is observed in cases with RUNX1-RUNX1T1 gene fusion.
Additionally, RUNX1 is also found to be rearranged as part of a translocation involving other partner chromosomes. Besides a translocation, amplification of RUNX1 gene is also observed in childhood AML and has been shown to be associated with a poorer outcome. The FISH assay using the RUNX1 break-apart probe has been designed to evaluate the RUNX1 gene rearrangement status regardless of the knowledge of the partner translocation chromosome.
Additionally, RUNX1 is also found to be rearranged as part of a translocation involving other partner chromosomes. Besides a translocation, amplification of RUNX1 gene is also observed in childhood AML and has been shown to be associated with a poorer outcome. The FISH assay using the RUNX1 break-apart probe has been designed to evaluate the RUNX1 gene rearrangement status regardless of the knowledge of the partner translocation chromosome.
Performing Laboratory
med fusion