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Doctor insights on: Brca1 Genetic Testing

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Are genetic tests available to detect brca1 and brca2 mutations, and how are they performed?

Are genetic tests available to detect brca1 and brca2 mutations, and how are they performed?

Yes: Brca1 and 2 mutation analysis is performed at myriad lab in usa. One can either use an oral swab or blood for testing. It is strongly recommended that the testing is done in the context of genetic counseling as the interpretation of the test and risk assessment for breast/ovarian cancer are complex and requires professional explanations. ...Read more

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Dr. Scott McLean
1,240 doctors shared insights

Genetic Testing (Definition)

Prenatal testing for genetic problems may be done before or after conception. Testing for spina bifida or Down syndrome is done after a pregnancy is established. Besides the couples listed above, counseling and diagnosis are also recommended for mothers over the age of 35, and those who have received abnormal screening test results, such as alpha-fetoprotein (AFP). For more information about the alpha-fetoprotein test, and when and why you might have it, see alpha-fetoprotein. For those who may be at risk, genetic counseling and prenatal diagnosis are used to help ...Read more


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What are the pros and cons of genetic testing?

What are the pros and cons of genetic testing?

Molecular genetic: testing & a Fragile X Syndrome probe are recommended for people of any age with developmental delays, Intellectual Disability &/or Autistic Spectrum Disorder. People at risk of transmitting mutant genes because of ethnicity, family history or consanguity need pre-pregnancy testing. Chromosomal array on amniotic fluid is offered to women with high risk of fetal Down Syndrome & other aneuploidies. ...Read more

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Is genetic testing necessary for CMT diagnosis?

Is genetic testing necessary for CMT diagnosis?

No: Diagnosis can be made by other means, though genetic testing will provide confirmation and pin point the defect. See this site for more info. http://www.ncbi.nlm.nih.gov/pubmedhealth/pmh0001741/. ...Read more

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Please tell me what implications are there for genetic testing?

Please tell me what implications are there for genetic testing?

Autonomy: Today, most (not all) people and most governments believe that if a person will suffer from serious disease that is determined by the genes they carry, they need to know so that they can make their own decisions -- and that mothers should make the decisions for their unborn children up to and including abortion. This is the principal "implication" in our often-cruel world. Best wishes. ...Read more

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What is the best clinic for genetic testing?

One with a board-: Certified geneticist who will examine the patient & determine what genetic tests need to be ordered. Referral by a primary care physician is needed, as well as all medical, educational & therapeutic records + a 3-generation family history of medical & psychiatric disorders. For information & support, contact http://www.Geneticalliance.Org. ...Read more

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How to know if you have huntington's disease? Genetic testing?

Genetic Counselor: See a genetic counselor to arrange testing. University hospitals have clinical or medical genetics divisions. Otherwise, an OB doctor, a fertility clinic, or a maternal fetal medicine or high-risk OB clinic can refer you. If you are going to have kids preimplantation genetic diagnosis (pgd) to prevent your child from having huntington's is possible, without disclosing if you have the disease. ...Read more

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Why do some people consider prenatal genetic testing to be unethical?

Why do some people consider prenatal genetic testing to be unethical?

Religion: Some religions forbid abortion, and others even forbid the pre-implantation testing of at-risk embryos. Others (i'm an episcopalian) support whatever you must do to have a healthy family. Thankfully (i think) most of the world enjoys enough freedom of religion and from religion that no one need be forced to bear a child who will die young and miserably of a genetic disease. ...Read more

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What is the difference between genetic counseling and genetic testing?

Goals: Genetic counseling is a discussion of a genetic condition with a patient to determine the likelihood the patient may carry a particular gene. Counseling will take into account family history, physical traits, and race. Counseling also includes the pros and cons of being tested, and what actions may be possible based on the test results. Testing is usually by a blood or spit sample. ...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