What Is the Purpose of AML Genetic Testing

What Is the Purpose of AML Genetic Testing?

What Is the Purpose of AML Genetic Testing? from Patient Empowerment Network on Vimeo.

How is genetic testing for AML administered, and what is the purpose? Dr. Sanam Loghavi explains the methods of genetic testing and the function of each method.

Dr. Sanam Loghavi is a hematopathologist and molecular pathologist at The University of Texas MD Anderson Cancer Center. Learn more about Dr. Loghavi.

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Katherine Banwell:

Dr. Loghavi, let’s start by defining molecular or genetic testing for AML. How is the test administered, and what is the purpose? 

Dr. Sanam Loghavi:

Sure. So, genetic testing at diagnosis of acute myeloid leukemia is now considered standard of care, and it must be performed for every patient with acute myeloid leukemia.  

We have different methodologies of doing genetic testing, and we can use – so the best sample to perform genetic testing on is really bone marrow. But if there are circulating leukemic cells, then we can also use peripheral blood instead of bone marrow. 

And the genetic tests really three main methodologies are used. One is called routine karyotyping, where we look at and characterize the chromosomes of the cancer cells for the leukemic cells. The other one is fluorescence in situ hybridization, which is another method for visualization of chromosomes, and we can look for deletions, addition of chromosomal material or certain translocations or rearrangements.  

And then next-generation sequencing allows us to look for smaller changes at the DNA level. So, these are single nucleotide variations at the DNA level or smaller insertions or deletions of genetic material.