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Doctor insights on: Factor Xiii V34l 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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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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Should a person with factor xiii von willebrands disease thats pregnant go on bedrest?

Should a person with factor xiii von willebrands disease thats pregnant go on bedrest?

Not necessarily: There are many women who get pregnant and deliver their babies without ever knowing they even have von willebrand's disease (vwd). That being said, there are many types of VWD that differ greatly in their severity. If a person has a history of VWD and has had many issues because of it, bed rest could be warranted if advised by an ob/gyn. ...Read more

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How does the deficiency of factor xiii result in prolong ptt but bleeding risk is not appreciable?

How does the deficiency of factor xiii result in prolong ptt but bleeding risk is not appreciable?

Mild Hemophilia: Sounds like mild hemophilia. Most patients usually have problems with bleeding only after serious injury, trauma or surgery. In many cases, mild hemophilia is not diagnosed until an injury, surgery or tooth extraction results in prolonged bleeding. I would not recommend surgery, including dental surgery without consulting with your hematologist. We premedicate most patients like you with ddavp (desmopressin). ...Read more

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If a mutation is new & SIFT analysis predicts deleterious, but you only fit some of the criteria for the diagnosis, do you give the diagnose?

If a mutation is new & SIFT analysis predicts deleterious, but you only fit some of the criteria for the diagnosis, do you give the diagnose?

Your doctor: Will be able to analyse the genetic result in combination with your symptoms and physical examination to determine your diagnosis ...Read more

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Thyroseq v2 was mutations NOT detected but analysis limited due to low amount of thyroid epithelial cells.So this test was useless?

Totally: B"sd absolutely right - genetic studies should only be done on an appropriate tissue specimen. To my knowlege, specimens are screened for adequacy before such testing. If the biopsy was indicated in the first place then it must be repeated - usually after an appropriate interval to allow the "needled" tissue to heal. ...Read more

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Can I be diagnosed with Gilbert's syndrome only based on my blood bilirubin levels although my 1& 2 UGT1A1 gene analysis came normal (no mutations)?

Can I be diagnosed with Gilbert's syndrome only based on my blood bilirubin levels although my 1& 2 UGT1A1 gene analysis came normal (no mutations)?

PossibleOtherVariant: Although your 1&2 UGT1A1 Gene analysis is normal.This variant account for 50%of alleles in many populations.However several allallelic polymorphic variants of this region occur.The most common of which results from adding another dinucleotide repeat TA to the promotor region resulting in A(TA7)AA .So there are other variants in people from south east asia,East Asians and pacific islanders ...Read more

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Hello,i am twice i have abortion and i made Androgen analysis and this is the result( Tag Androgen in exon 1 of androgen receptor gens typ of mutation 23 high risk of abortion) Doctor what do you think about this analysis and what is the cure for it thank

Hello,i am twice i have abortion and i made Androgen analysis and this is the result( Tag Androgen in exon 1 of androgen receptor gens typ of mutation 23 high risk of abortion) Doctor what do you think about this analysis and what is the cure for it
thank

Not Standard Care: Doctors in the US generally do not send genetic analyses as detailed as yours b/c we do not fully know what to do with results like that which may not bear significance on future pregnancies. We usually examine chromosomes but not genes. Is that genetic analysis from YOU or from the remnants of the pregnancy? For more information, see a genetic counselor. ...Read more

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Are there many factors that can cause the mutation for galactosemia?

Are there many factors that can cause the mutation for galactosemia?

Inherited: Galactosemia is a autosomal recessive inherited condition which causes you to metabolise galactose and other sugars incorrectly or differently. Autosomal recessive conditions usually come from both parent's--usually as carriers but not expresing the disease.There are many factors related to gene expression and gene abnormalities, but once you have the abnormality, it is not easy to determine. ...Read more

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I have factor 5 lie den mutation homozygous and I want to know if I am able to fly?

Yes: with caveats. You must continue any medications you are taking to prevent blood clots. You are at increased risk of clots so you want to be in a seat that allows you to reposition your legs during flight, so economy is likely not for you. You must get up and walk every 10-15 minutes and flex your calves to get the blood flowing. It may be a good idea to tell the cabin crew your needs. ...Read more

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