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RUNX1 Mutation Analysis Test

Last updated July 27, 2019

Approved by: Krish Tangella MD, MBA, FCAP

The RUNX1 Mutation Analysis Test helps detect abnormalities in the RUNX1 gene. It helps diagnose cancer.

What are other Names for this Test? (Equivalent Terms)

  • AMLCR1 Mutation Analysis Test
  • Polyomavirus Enhancer-Binding Protein 2 Alpha B Subunit Mutation Analysis Test
  • SL3/AKV Core-Binding Factor Alpha B Subunit Mutation Analysis Test

What is RUNX1 Mutation Analysis Test? (Background Information)

  • RUNX1 mutation refers to an alteration in the RUNX1 gene. It is associated with blood cell cancers, such as cancer of the white blood cells (leukemia)
  • The RUNX1 gene gives instructions for the RUNX1 protein. RUNX1 helps blood cells control the process of converting genetic material to proteins by turning on genes related to blood cell development
  • RUNX1 is thus essential in early blood cells. It acts in unison with other proteins, such as the CBFB protein, and helps form the CBF complex
  • Alterations to the RUNX1 gene may result in a RUNX1 protein that is defective. The mutated RUNX1 protein may be unable to properly regulate blood cell growth and development, and may cause uncontrolled growth, resulting in cancer
  • The RUNX1 Mutation Analysis Test helps detect abnormalities in the RUNX1 gene. It helps diagnose cancer. It also aids in the treatment of cancer by guiding selection of chemotherapy drugs

The molecular testing, in general, can be performed using a variety of methods. Some of these methods include:

  • In situ hybridization technique, such as fluorescence in situ hybridization (FISH)
  • Immunohistochemistry (IHC)
  • Next-generation sequencing (NGS)
  • Polymerase chain reaction (PCR)
  • Comparative genomic hybridization (CGH)
  • Karyotyping including spectral karyotyping
  • mRNA analysis
  • Tissue microarrays (TMAs)
  • Southern blot test
  • Northern blot test
  • Western blot test
  • Eastern blot test

The methodology used for the test may vary from one laboratory to another. 

Note: Molecular testing has limitations due to the molecular method and genetic mutational abnormalities being tested. This can affect the results on a case-by-case basis. Consultation with your healthcare provider will help in determining the right test and right molecular method, based on individual circumstances.

What are the Clinical Indications for performing the RUNX1 Mutation Analysis Test?

Following are the clinical indications for performing the RUNX1 Mutation Analysis Test:

  • Fever
  • Bone pain
  • Lethargy and fatigue
  • Shortness of breath
  • Pale skin
  • Frequent infections
  • Easy bruising
  • Unusual bleeding, such as frequent nosebleeds and bleeding from the gums

In general, the molecular genetic testing is undertaken in the following situations:

  • To assist (and in some cases, confirm) the initial diagnosis
  • To distinguish other tumors/conditions that have similar histological features, when examined by a pathologist under the microscope
  • To help in determining treatment options
  • To confirm recurrence of the tumor: Tumor recurrence can either be at the original tumor site, or at a distant location (away from the initial site)

How is the Specimen Collected for RUNX1 Mutation Analysis Test?

Following is the specimen collection process for RUNX1 Mutation Analysis Test:

The specimen sample requirements may vary from lab to lab. Hence, it is important to contact the testing lab for exact specimen requirements, before initiating the testing process.

  • Sample on which the test is performed may include:
    • Fresh tumor tissue during biopsy
    • Formalin-fixed paraffin-embedded solid tumor tissue (FFPE tumor tissue), often referred to as paraffin block of the tumor
    • Unstained tissue slides
  • Process of obtaining the sample: As outlined by the laboratory testing facility
  • Preparation required: As outlined by the laboratory testing facility


  • In some cases, a different source of specimen (such as peripheral blood, bone marrow biopsy specimen, or other body fluids) may be acceptable to the laboratory performing the test
  • Occasionally, additional samples may be required to either repeat the test or to perform follow-up testing
  • Depending on the location of testing, it may take up to 2 weeks’ turnaround time, to obtain the test results
  • Many hospitals preserve the paraffin blocks for at least 7 years. In general, older paraffin blocks (over 5 years) may affect the detection of specific mutations, due to degradation of the tumor specimen over time

Cost of RUNX1 Mutation Analysis Test:

  • The cost of the test procedure depends on a variety of factors, such as the type of your health insurance, annual deductibles, co-pay requirements, out-of-network and in-network of your healthcare providers and healthcare facilities
  • In many cases, an estimate may be provided before the test is conducted. The final amount may depend upon the findings during the test procedure and post-operative care that is necessary (if any)

What is the Significance of the RUNX1 Mutation Analysis Test Result?

The presence of an alteration in the RUNX1 gene indicates a positive result for the RUNX1 Mutation Analysis Test. This may point to a diagnosis of any of the following:

  • Core binding factor acute myeloid leukemia
  • Cytogenically normal acute myeloid leukemia
  • Rheumatoid arthritis
  • Acute lymphoblastic leukemia
  • Chronic myelomonocytic leukemia
  • Myelodysplastic syndromes
  • Familial platelet disorder with predisposition to acute myeloid leukemia

The laboratory test results are NOT to be interpreted as results of a "stand-alone" test. The test results have to be interpreted after correlating with suitable clinical findings and additional supplemental tests/information. Your healthcare providers will explain the meaning of your tests results, based on the overall clinical scenario.

Additional and Relevant Useful Information:

  • The RUNX1 gene is found in location 21q22.12 i.e., the long (q) arm of chromosome 21 in position 22.12
  • Many laboratories may not have the capability to perform this test. Only highly-specialized labs with advanced facilities and testing procedures may perform this test

Certain medications that you may be currently taking may influence the outcome of the test. Hence, it is important to inform your healthcare provider, the complete list of medications (including any herbal supplements) you are currently taking. This will help the healthcare provider interpret your test results more accurately and avoid unnecessary chances of a misdiagnosis.

The following DoveMed website link is a useful resource for additional information:



Please visit our Laboratory Procedures Center for more physician-approved health information:


References and Information Sources used for the Article:

Helpful Peer-Reviewed Medical Articles:

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: May 29, 2017
Last updated: July 27, 2019