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Doctor insights on: Braca Gene Testing

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If there is an autistic child or sibling or other family member, is there reason for gene testing the family?

If there is an autistic child or sibling or other family member, is there reason for gene testing the family?

Possibly: If there is a known genetic abnormality in the person with autism, then family members of child-bearing age may benefit. Even if physical & neurological exam reveal no signs of a specific syndrome in a child with autism &/or intellectual disability, genetic microarray & dna probe for fragile x reveal an abnormality about 15% of the time. Evaluation by a geneticist is needed in those cases. ...Read more

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Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


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What are the available genetic testing for detecting the carrier gene for colorblindness?

What are the available genetic testing for detecting the carrier gene for colorblindness?

Research tool: From my reading, it's been available for about a year as part of the reserach project for treating colorblindness with new genes. ...Read more

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I'm from hong kong. My daughter has oca type of albinism. We all want to get genes tested. Any free albinism gene testing available?

I'm from hong kong. My daughter has oca type of albinism. We all want to get genes tested. Any free albinism gene testing available?

.: No free testing but check with your insurance to see if they will cover. Other option is to contact noah project and the vision for tomorrow foundation. They may be able to help. ...Read more

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Why would my doctor be testing my hla-b27 gene?

Why would my doctor be testing my hla-b27 gene?

Arthritis disease: The hla b-27 is a genetic test for ankylosing spondylitis and a group of similar diseases called seronegative spondyloarthropathies. ...Read more

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Variant in mre11a gene found during genetic testing. What does this indicate?

Variant in mre11a gene found during genetic testing. What does this indicate?

Not sure: A lot depends on the situation for which the test was done and what is meant by "variant." mutations of this gene, when inherited from both parents, can cause an extremely rare condition termed "ataxia-telangiectasia-like disorder" where a specific part of the brain, the cerebellum, does not work properly and movements of the arms and legs are wobbly. Show your doctor http://omim.Org/entry/600814. ...Read more

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Asked a lot. No responses. I have one relative with lynch syndrome. Rec cancer. I want gene testing on the mLH1 gene. What is the cost of this test?

Asked a lot. No responses. I have one relative with lynch syndrome. Rec cancer. I want gene testing on the mLH1 gene. What is the cost of this test?

Question for path: This test is done by molecular diagnostic companies like Foundation medicine, Caris Dx, pathology departments in moth hospitals. Most MD's may not have an answer to your question. Sorry. ...Read more

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Does being diagnosed with Myotonia through genetic testing of the Scn4a gene mean a person has Myotonic Muscular Dystrophy? Is Myotonia a Dystrophy?

Does being diagnosed with Myotonia through genetic testing of the Scn4a gene mean a person has Myotonic Muscular Dystrophy? Is Myotonia a Dystrophy?

Usually.: Myotonia, can have more than one cause. Myotonic dystrophy, is a genetics, and heritage form of Maya Tonio. If you have the gene, you most likely have it. Myotonia is due to an abnormality in the membranes of muscle cells, making them hyperexcitable. ...Read more

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Can you test positive for 2 mutations of cystic fibrosis on one copy of a gene? I am 43 and have 2 mutations and they are testing my mother.

Can you test positive for 2 mutations of cystic fibrosis on one copy of a gene? I am 43 and have 2 mutations and they are testing my mother.

Cystic Fibrosis: It is possible to have multiple mutations for cystic fibrosis on one copy of a gene. There are more than 1700 mutations of the cystic fibrosis gene. More about cystic fibrosis genetics via the Cystic Fibrosis Foundation: https://www.cff.org/What-is-CF/CF-Genetics/ ...Read more

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Can you tell me if given the oppurtunity to get genetic testing for the breast cancer gene should I do it?

Can you tell me if given the oppurtunity to get genetic testing for the breast cancer gene should I do it?

Informed decision: No one can tell you if genetic testing is right for you; it is your decision. See a genetic counselor or geneticist to go over all of the pros and cons of genetic testing before you make your decision. The goal of genetic counseling is to help you have all the information you need to make an informed, personal decision. ...Read more

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How can blighted ovum happen after PGS testing? I have MTHGR gene one but doctor only gave baby aspirin. Could this be cause?

How can blighted ovum happen after PGS testing? I have MTHGR gene one but doctor only gave baby aspirin. Could this be cause?

Mosaicism, bad luck: A blighted ovum is a gestational sac without development of an embryo. Aspirin cannot kill off developing embryo so eliminate that idea. When they test the blastomere for a normal chromosomal compliment, they test only one cell. Very rarely, A mitotic nondisjunction can occur, perhaps during blastomere stage and the embryo might form from that sell lineage which might cause so much trouble it dies ...Read more

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How many relatives need to have had breastcancer before you should get genetic testing for the BRCA genes? My mother contracted breast cancer, I am 40

How many relatives need to have had breastcancer before you should get genetic testing for the BRCA genes? My mother contracted breast cancer, I am 40

See genetics: Most breast cancer is NOT due to an inherited risk, but rather occurs by chance. Family history that suggests an inherited risk, such as changes in the BRCA1 gene or BRCA2 gene, include multiple relatives with cancer over more than one generation and younger ages of onset. If you are concerned about an inherited risk, see a geneticist who can assess your family history. ...Read more

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How do you know which cancer genes you need to be tested for?

How do you know which cancer genes you need to be tested for?

Genomic or genetic?: There are many new tests available now. Also the number of conditions or diseases being detected is larger. It is difficult to understand the implications of testing without having an expert provide perspective. A good start is asking relatives about health problems or becoming a 'medical detective' looking into old records. Then, if the family agrees, consult a clinical geneticist about testing. ...Read more

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Is genetics testing available for huntington's disease or is the diagnosis based on only on symptoms?

Yes: Pre-symptomatic testing is available through mutational analysis of the gene. It is not recommended in children until they can give meaningful informed consent. ...Read more

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Can being genetically tested for the scn9a gene show a link to primary erythromelalgia?

Perhaps: This is a complicated area as multiple mutations of this gene have been described and associated with primary erythermalgia erythromelalgia (pe). Erythromelalgia is found in pts with myeloproliferative diseases and elevated platelet counts, though the symptoms are similar. If there is a familial incidence of pe, genetic testing could be done. Not clear about using it as a screening test. ...Read more

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Any stats on how many woman have been tested for the brca1 and brca2 gene?

Brac1 and brac2 gene: No nobody keeps track of that because these tests are done all over the world. ...Read more

Gene (Definition)

A hereditary unit consisting of a sequence of dna that occupies a specific location on a chromosome and determines a particular characteristic in an organism. Genes undergo mutation when their ...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