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Doctor insights on: Factor V Hr2 Allele Dna Mutation Analysis

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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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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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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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Is there a link between hemangiomas and factor v leiden mutations?

Is there a link between hemangiomas and factor v leiden mutations?

No: Both are very common and this is probably a coincidence. The factor v gene isn't part of the pathway by which new vessels form, and this speaks against there being any correlation. There are a few other genetic syndromes with distinctive hemangiomas, but factor v has not been linked to any. ...Read more

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How do you treat a pregnancy with the factor v leiden mutation?

How do you treat a pregnancy with the factor v leiden mutation?

Lovenox (enoxaparin): The woman needs to be on long term Heparin treatment. Usually a subcutaneously injected preparation is used. ...Read more

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I have a factor v leiden blood mutation. What kind of birth control pills (not iuds) can I take?

Possibly progestin : Generally, you have a 6 fold increase risk of a clot in the leg or lung. Adding estrogen/ progestin birth control pills increase the risk by between 15 x to 80 x- if you received a factor from one parent or two, respectively. The risk is unacceptably high- more than getting pregnant. The literature seems to indicate that a progestin only pill or an iud without hormone is safer. ...Read more

Dna (Definition)

Dna are the coding molecules found in all living things on earth which contain the instructions on how to build living things. Its is comprised the nucleotide molecules which are ...Read more