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Doctor insights on: Thrombophilia Dna Mutation Analysis

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Dr. Lois Freisleben-Cook
1 doctor shared a insight

Thrombophilia Dna Mutation Analysis (Overview)

Certain inherited blood clotting disorders are due to genetic mutations which can be identified by a blood test. Thrombophilia is the medical term for an abnormal tendency for blood clot (thrombosis).


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What is the definition or description of: thrombophilia DNA mutation analysis?

What is the definition or description of: thrombophilia DNA mutation analysis?

Test for clotting: Certain inherited blood clotting disorders are due to genetic mutations which can be identified by a blood test. Thrombophilia is the medical term for an abnormal tendency for blood clot (thrombosis). ...Read more

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Dr. Lois Freisleben-Cook
1 doctor shared a insight

Thrombophilia Dna Mutation Analysis (Overview)

Certain inherited blood clotting disorders are due to genetic mutations which can be identified by a blood test. Thrombophilia is the medical term for an abnormal tendency for blood clot (thrombosis).


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20y o woman, have thrombophilia factor vii (7) heterozygote gene mutation, I have had 7week miscarriage, is thromb. the cause? I am very healthy

20y o woman, have thrombophilia factor vii (7) heterozygote gene mutation, I have had 7week miscarriage, is thromb. the cause? I am very healthy

Yes : Patients with these problems tend to have recurrent miscarriages which can bee prevented by Aspirin or anticoagulant ,Heprin therapy.You need to be followed by a high risk doctor for future.Goodluck ...Read more

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Is factor 7 gene mutation (heterozygote) thrombophila?

Is factor 7 gene mutation (heterozygote) thrombophila?

No: Factor 7 mutation is very rare and causes increased risk of bleeding (not being able to clot). Factor 5 deficiency is the most common form of thrombophilia (increased risk of abnormal clotting). ...Read more

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How do dna, mutation, genotype, phenotype, and natural selection interconnect to cause evolution?

How do dna, mutation, genotype, phenotype, and natural selection interconnect to cause evolution?

Modern synthesis: It's as well-established as anything in science, but would take more than 400 characters to explain. You owe it to yourself, as an educated person who must participate in community decision making, to understand it. There are a huge number of good books on the subject. Best wishes. ...Read more

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What is a hereditary hemochromatosis DNA mutation?

What is a hereditary hemochromatosis DNA mutation?

Gene Mutation: This is a mutation in one of the genes that help to process iron absorption. The mutation, if present in 2 copies, can cause too much iron to be absorbed. The excess iron then deposits in other organs and can cause disease - cirrhosis, diabetes, impotence. Having only one mutation may not lead to disease. You should discuss this with your doctor to see if you are at risk of developing disease. ...Read more

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With bipolar ii, adhd, & c ptsd, what additional tests are beneficial? Ie: hormone, neurotransmitter , DNA mutation (mthfr, a1at ...) methylation etc.

Yes: I would definitely check mthfr and comt. Both these are involved in methylation. One is involved in neurotransmitter synthesis, and the other in breakdown. Therefore polymorphisms can impact mood, etc, and if so, vitamins and supplements can help the methylation cycle. I check mthfr in most of my patients. ...Read more

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Can you definitively rule out lynch syndrome in patients tested neg for msi/ihc without germline mutation analysis? If not, what additional indications are required for md to order germline analysis?

Can you definitively rule out lynch syndrome in patients tested neg for msi/ihc without germline mutation analysis? If not, what additional indications are required for md to order germline analysis?

See below: Lynch sydrome is caused by a germline mutation in a gene leading to msi. Combined testing for msi, and using ihc to look for genetic abnormalities leading to msi are the best tests to determine if you have lynch syndrome. Further genetic testing could be done in people who test positive for msi or ihc. Please see: http://www.Mayoclinic.Com/health/lynch-syndrome/ds00669/dsection=tests-and-diagnosis. ...Read more

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Will all exposure to radiation during treatments for tumors cause damage to DNA or is it possible that the DNA are not affected (no mutations, etc.)?

Will all exposure to radiation during treatments for tumors cause damage to DNA or is it possible that the DNA are not affected (no mutations, etc.)?

Yes it may: Radiation treatment can cause damage to surrounding areas. It may put you at risk for cancer in the future as well. Normally the risk/benefit ratio of radiation treatment is taken into account to treat the tumor now. ...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


Dr. Louis Cooper
71 doctors shared insights

Hypercoagulability (Definition)

Usually genetic in which certain parameters in the blood are lacking leading to blood clotting Over the last decade there has been many blood parameters to look at,e.g. Factor V Leiden,protein c s deficency,antiphospholipid,lupus May run in families Treatment once thrombosis occurs is ...Read more