2 doctors weighed in:

What are the genetics tests for cml, can I get gene therapy if they find anything?

2 doctors weighed in
Dr. David Rizzieri
Internal Medicine - Hematology & Oncology

In brief: Pcr-FISH-karyotype

There are 3 main types of genetic tests.
The old standard is to take a blood sample from the hip (marrow) and grow cells to look at all the chromosomes (karyotype). It is a 'broad strokes' look but not as sensitive as the others. A fish test looks at blood cells with 'probes' to the known genetic changes (moderately sensitive) and a PCR test is a 'molecular' test of the dna (very sensitive).

In brief: Pcr-FISH-karyotype

There are 3 main types of genetic tests.
The old standard is to take a blood sample from the hip (marrow) and grow cells to look at all the chromosomes (karyotype). It is a 'broad strokes' look but not as sensitive as the others. A fish test looks at blood cells with 'probes' to the known genetic changes (moderately sensitive) and a PCR test is a 'molecular' test of the dna (very sensitive).
Dr. David Rizzieri
Dr. David Rizzieri
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Dr. Golder Wilson
Clinical Genetics

In brief: Chromosome tests

For people with cml, bone marrow chromosome studies (karyotype) often show the philadelphia chromosome (a chromosome #22 that is shortened because its distal end is transferred (translocated) to chromosome 9.
Antibody (gleevec) to the translocation protein is helpful and bone marrow transplant is a form of gene therapy that provides cells with normal chromsomes.

In brief: Chromosome tests

For people with cml, bone marrow chromosome studies (karyotype) often show the philadelphia chromosome (a chromosome #22 that is shortened because its distal end is transferred (translocated) to chromosome 9.
Antibody (gleevec) to the translocation protein is helpful and bone marrow transplant is a form of gene therapy that provides cells with normal chromsomes.
Dr. Golder Wilson
Dr. Golder Wilson
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