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Doctor insights on: Abl T315i Mutation Cell Based

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Cause of a positive monoclonal T cell beta gene rearrangement?

Cause of a positive monoclonal T cell beta gene rearrangement?

Tumor: Monoclonal proliferation of lymphoid cells is usually an indication of tumor of the lymphoid tissue. ...Read more

Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


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What chromosome is mutated in sickle cell disease?

What chromosome is mutated in sickle cell disease?

11: The beta globin gene is mutated in sickle cell anemia; it is located on chromosome 11. ...Read more

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Is diffused b cell lymphoma genetic?

Is diffused b cell lymphoma genetic?

Not really: While there may be a genetic suscepibiltiy to developing lymphoma it is not truly a genetic disease. ...Read more

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What chromosome carries the gene for sickle cell anemia?

What chromosome carries the gene for sickle cell anemia?

Chromosome No. 11: Point mutation at beta-globin gene located at chromosome no. 11 results in production of defective hemoglobin, sickle hemoglobin. ...Read more

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Blood flow cytmtry shows dual positive cd4cd30 cells absolute count of 2354. IGG slightly elevated with elevated light chains, T cell Beta clone noted?

Blood flow cytmtry shows dual positive cd4cd30 cells absolute count of 2354. IGG slightly elevated with elevated light chains, T cell Beta clone noted?

Asking what?: If your are requesting a diagnosis online, this is not the appropriate venue. Though the flow cytometry results are not totally normal, your results should be reviewed with the physician who ordered it. This format does not give us the ability to determine if your clinical presentation and lab results are consistent with a specific diagnosis. ...Read more

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What is the pregnancy success rate of d5 xfer of 8 cell embryo, if D3 biopsy showed normal xx genetics. Also, did D3 biopsy affect embryo growth rate?

What is the pregnancy success rate of d5 xfer of 8 cell embryo, if D3 biopsy showed normal xx genetics. Also, did D3 biopsy affect embryo growth rate?

Ask specialist: This is a question best directed to your infertility specialist. Unfortunately those of us who are general practitioners and general ob/gyns don't have these statistics. Didn't want you to think we were ignoring you! good luck! ...Read more

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The lymphoid population consists of polyclonal b cells cd19,cd20,cd45 pos, cd5, cd10 neg w/o light chain. What does this mean on flow cytometry?

This is normal: We would worry if you had Monoclonal Lymphocyte excess, a polyclonal pattern is normal. But why did you have the Flow cytometry done in the first place? Give us more detailed history if you need our guidance. ...Read more

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Sickle cell anemia:is this birth defect only due to genetics?

Sickle cell anemia:is this birth defect only due to genetics?

Yes: It is a defect present from birth, yes. Would i call it a birth defect, no. It is a genetically derived abnormality in the metabolism of hemoglobin that results in sickling of the red cells under some circumstances. As a metabolic disease, it is inherited in a similar fashion to pku or cystic fibrosis. The term birth defect is more appropriate for a kid with malformation of an organ or body part. ...Read more

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Gene expression profiling predicts clinical outcome of breast cancer?

Gene expression profiling predicts clinical outcome of breast cancer?

We're Getting There: In the past, we used anatomic staging alone (tumor size, lymph node involvement) to guide rx. Gene profiling allows us a completely separate measure of prognosis, and, more importantly, can predict who may or may not benefit from different chemotherapy agents. In the future, we will hopefully be able to tailor our rx to the specific cancer being treated: the elusive personalized medicine. ...Read more

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Is there a reliable molecular test for assessing remission status of Mantle Cell Lymphoma?

Is there a reliable molecular test for assessing remission status of Mantle Cell Lymphoma?

Mantle Cell Lymphoma: ...is a type of non Hodgkin's lymphoma characterized by the genetic rearrangement of two chromosomes. This causes an abnormal fusion of two genes: Immunoglobulin (IgH) and Cyclin D1. Molecular studies that can detect this abnormality includes either FISH or RT-PCR. Flow cytometry is also good at identifying abnormal cells based on cell surface antigen expression. ...Read more

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Is sickle cell dominant or recessive in its inheritance?

Is sickle cell dominant or recessive in its inheritance?

Recessive: Sickle cell is autosomal recessive which means both parents must have a copy of the defective allele (one or both can be carriers but exhibit no symptoms). ...Read more

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3 MCs no live birth. 2 MCs turner's & trisomy14 in fetus. Parents karyotyping normal. What other genetic tests shld be done. Risk of abnormal child ?

3 MCs no live birth. 2 MCs turner's & trisomy14 in fetus. Parents karyotyping normal. What other genetic tests shld be done. Risk of abnormal child ?

No need extra tests: No need for further tests before pregnancy since the parents chromosomes are normal. For early piece of mind you can consider early non-invasive genetic screening in early pregnancy. ...Read more

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Which is the rate of occurrence of sickle cell disease( gene frequency, and mutation rate)?

Which is the rate of occurrence of sickle cell disease( gene frequency, and mutation rate)?

Depends on geography: Given the single base change responsible for sickle cell trait in the beta globin gene, the frequency of new mutations is essentially zero. According to the cdc in the usa, 8-10% of african americans have sickle cell trait and 0.2% have sickle cell disease. Conversely, in western africa, the prevalence of sickle cell trait is 30-40%. ...Read more

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How will be RBC count, pcv, hb in metastatic renal cell carcinoma?

How will be RBC count, pcv, hb in metastatic renal cell carcinoma?

Unpredictable: Most patients will have a drop in red count due to the cancer itself. Some will be normal, but a small percentage of renal cancers produce excess epo and will have a high rbc. ...Read more

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What is the difference in gene sequencing tests vs gene deletion/duplication tests? Should one type of genetic test be done before the other?

What is the difference in gene sequencing tests vs gene deletion/duplication tests?  Should one type of genetic test be done before the other?

Depends: Sequencing is like reading war and peace letter by letter, and deletion/duplication testing is like seeing if a chapter is completely missing or present as an extra copy. Which first? Depends on the condition. For duchenne muscular dystrophy, look for deletions first. For brca, sequence first. Your clinical geneticist can discuss the strategy with you. ...Read more

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What is the current significance of embryonic stem cell research?

What is the current significance of embryonic stem cell research?

Stem cells: To learn about stem cells see this comprehensive article: http://stemcells.nih.gov/info/basics/Pages/Default.aspx ...Read more

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Marrow aspirate flow cytometry. Whats importance of the dominant markers in lymphocyte vs. blast gates? Eg. Lymph CD2~5~7~38 Blast 22~34~45~117~hladr

Marrow aspirate flow cytometry. Whats importance of the dominant markers in lymphocyte vs. blast gates? Eg. Lymph CD2~5~7~38 Blast 22~34~45~117~hladr

Exactly400Characters: I'm not here to answer.This is beyond my expertise. But I would like to remind you,& others,that we are restricted to 400 characters(not words,but individual letters,etc).I would suspect that a question like this would require some more information before someone would want to commit to an answer and,anyways,the person who ordered and/or did the aspirate should be consulted for definitive answers. ...Read more

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What's the rate of occurrence of sickle cell disease (gene frequency, and mutation rate)?

Sickle: What is the rate of occurrence for the disease sickle cell anemia or disease?" -- the occurrence rate is 25% if both parents are carriers, 50% if one parent has it and another parent is a carrier and 100% if both parents have it. Roughly 1, 000 infants are born, in the U.S., with it each year. ...Read more