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Doctor insights on: Brca1 Genetic Testing

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Do ovum donors undergo genetic testing or pedigree evaluation?

Do ovum donors undergo genetic testing or pedigree evaluation?

Yes: Check with your rei specialist for details, but all ovum donors would be asked to report a detailed family history and would be tested for common recessive disorders, such as cystic fibroisis. Many programs would also request more extensive testing including a panel of 100 such recessive diseases, including such problems as spinal muscular atrophy, the askenazi jewish panel, fragile x, & more. ...Read more

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Dr. Scott McLean
1,249 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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Is brca genetic testing a simple blood test?

Is brca genetic testing a simple blood test?

Yes: BRCA testing can be performed from either blood or saliva. A significant amount of DNA needs to be present for adequate testing so most companies require more than a finger stick blood draw. Usually a single blood tube containing 3 ccs of blood is adequate ...Read more

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Who needs apc genetic testing?

Who needs apc genetic testing?

History of polyps: General indications for APC gene testing include patients who themselves have had 10 or more adenomas or have had a desmoid tumor, or patients who have a family member with an APC gene mutation found on genetic testing. ...Read more

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Who should undergo genetic counseling for hereditary non-polyposis colorectal cancer (hnpcc)?

Who should undergo genetic counseling for hereditary non-polyposis colorectal cancer (hnpcc)?

Family history: There are a number of different inherited defects that cause hnpcc. A person with strong family history of colon cancer, occurring at a young age should seek counseling. ...Read more

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Is genetic testing for adrenoleukodystrophy possible?

Yes: Because adrenoleukodystrophy is a genetic condition, there are tests for it. You can find some good information about the disorder, testing and centers that are experts in the disorder at the national organization for rare diseases (nord). Their web site is www.Rarediseases.Org. Disorders are listed alphabetically, along with hospitals/providers that have special expertise in the disorder. ...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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What percent of women inherit a brca1 or brca2 gene?

What percent of women inherit a brca1 or brca2 gene?

Clarifying Q & A: In the general population, the incidence of a brca1 mutation is between 1:500 to 1:800. It is much lower for brca2. For a woman or offspring to inherit the gene from a parent who has one copy of the mutated gene, there is a 50% chance of acquiring the gene in question. It is autosomal dominant and therefore can manifest its deleterious consequences by itself without need of a second copy. ...Read more

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What is a hereditary hemochromatosis DNA mutation?

What is a hereditary hemochromatosis DNA mutation?

Gene Mutation: This is a mutation in one of the genes that help to process iron absorption. The mutation, if present in 2 copies, can cause too much iron to be absorbed. The excess iron then deposits in other organs and can cause disease - cirrhosis, diabetes, impotence. Having only one mutation may not lead to disease. You should discuss this with your doctor to see if you are at risk of developing disease. ...Read more

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Is marfan's syndrome a genetic mutation?

Is marfan's syndrome a genetic mutation?

Yes: Yes it is a mutation in the fbn1 gene on chromosome 15. This gene is responsible for providing the instructions for making a protien called fibrillin which becomes part of microfibrils. Microfibrils are important for providing the strength and flexibility of connective tissue. Connective tissue provides strength and flexibility to bones, ligaments, muscles, blood vessels and heart values. ...Read more

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Who should get breast cancer genetic testing?

Who should get breast cancer genetic testing?

Start w/affected pt: Pesonal and family risk factors assoc w/brca mutation: muliple fam members, bil breast cancer, male breast cancer, ovarian cancer, ashkenazi jewish heritage (specific founder mutations), diagnosis age <50 (dx age < 60 if er/pr/her2 - or triple negative). Both maternal and paternal history is important. ...Read more

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Gene expression profiling predicts clinical outcome of breast cancer?

Gene expression profiling predicts clinical outcome of breast cancer?

We're Getting There: In the past, we used anatomic staging alone (tumor size, lymph node involvement) to guide rx. Gene profiling allows us a completely separate measure of prognosis, and, more importantly, can predict who may or may not benefit from different chemotherapy agents. In the future, we will hopefully be able to tailor our rx to the specific cancer being treated: the elusive personalized medicine. ...Read more

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Can you tell me, are all brca gene mutations hereditary?

Can you tell me, are all brca gene mutations hereditary?

Good question. : The answer is no, a small number of patients with early onset breast cancer who carry a bad brca 1 or 2 mutation develop it "de novo", meaning that it started with them (after all, someone has to be the first to have it). Depending at which stage in development it happens, it may affect them to a different degree and may or may not be passed to their children. Some other cancer syndromes.. ...Read more

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Can preimplantation genetic diagnosis testing work on diagnosising ataxia telangiectasia?

Can preimplantation genetic diagnosis testing work on diagnosising ataxia telangiectasia?

Perhaps: It is a genetic disorder with the parents acting as carriers. Atcp.Org might be a good starting place to investigate genetic counseling prior to conception and try to evaluate your risk. ...Read more

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Can comprehensive chromosome screening (CCS) in IVF screen for (1) partial trisomy, (2) unbalanced translocation, and (3) balanced translocation? Does testing parental karyotyping before CCS help?

Can comprehensive chromosome screening (CCS) in IVF screen for (1) partial  trisomy, (2) unbalanced translocation, and (3) balanced translocation? Does testing parental karyotyping before CCS help?

Test for Aneuploidy: Aneuploidy is the term used to describe any embryo with either too many or too few chromosomes. It is the cause of greater than 60% of miscarriages, as well as the most likely reason that patients do not get pregnant from an IVF cycle. The purpose of CCS is to analyze, select and transfer only embryos that do not have abnormalities in their number of chromosomes. A genetic consult is needed; ...Read more

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How accurate are genetic pedigrees?

Often incomplete: A pedigree is a standard diagram of your family history, using squares for males, circles for females, joining lines for marriage and offspring. Traits/diseases are indicated by marking the circles or squares, the patterns revealing inheritance mechanisms. Accuracy depends on completeness of family information and the knowledge/experience of the historian/interpreter (think clinical geneticist). ...Read more

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