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Doctor insights on: Sarcoma Mutation Analysis Panel

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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. Andrew Seibert
2 doctors shared insights

Sarcoma (Definition)

By definition, it is malignant (i.e., being locally invasive and at least theoreticlally capable of metastasizing), and arises from / mimics muscle or connective tissue elements that are not marrow or immune / white cells. The sarcomas are a tremendously varied and troublesome family of tumors, though thankfully less common than carcinomas and the leukemia / ...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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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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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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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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Does sarcoma usually cause many symptoms?

Does sarcoma usually cause many symptoms?

Depends: It depends on the type of sarcoma, location of the lesion and stage of lesion. Sarcomas are cancers of the connective tissue, muscle and bone. ...Read more

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What are the tests for soft tissue sarcoma?

What are the tests for soft tissue sarcoma?

Biopsy, scans: Typical tests include a biopsy for establishing the diagnosis and blood work. Scans such as ct scans or MRI scans are also performed. ...Read more

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What is an example of a soft tissue sarcoma is?

What is an example of a soft tissue sarcoma is?

Many types: Some examples are malignant fibrous histiocytoma, dermatofibrosarcoma protuberant, angiosarcoma and leiomyosarcoma. All are basically named by the tissue they originate from. ...Read more

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Can you tell me some odd cells that were on the tumorthey called it sarcoma. What is going to happen next?

Need more info: It depends on many factors. First, is it a sarcoma of bone or soft tissue. Bone sarcomas usually get chemo, while it is variable for soft tissue sarcomas. It also depends if the tumor had spread. In most cases sarcoma is treated with surgery. Talk to your doctor to get more answers. ...Read more

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How to treat soft tissue sarcoma?

Surgery +radiate: The main therapy for soft tissue sarcoma is complete surgical resection with negative (i.e. Clean) surgical margins. Depending on the type and grade of sarcoma, radiation therapy after surgery may also be indicated. Chemotherapy is generally only given if the sarcoma has spread to distant sites. ...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