Doctor insights on:
Braca Gene Testing
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 moreSee 2 more doctor answers
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
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?
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 moreSee 1 more doctor answer
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?
Does being diagnosed with Myotonia through genetic testing of the Scn4a gene mean a person has Myotonic Muscular Dystrophy? Is Myotonia a Dystrophy?
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.
How likely is it that a 58 yr old female may have alzheimer's? I'm her daughter&i got results of genetic testing saying that I do have gene mutations.
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 moreSee 1 more doctor answer
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
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 moreSee 2 more doctor answers
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 moreSee 2 more doctor answers
Is genetics testing available for huntington's disease or is the diagnosis based on only on symptoms?
In what areas of medicine is personal genetics testing a routine part of disease diagnosis and treatment?
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
I will be tested for the carrier gene of haemophilia a. I have already drew up a family tree but what other information will they want?
Brac1 and brac2 gene: No nobody keeps track of that because these tests are done all over the world. ...Read more