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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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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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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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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 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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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