Doctor insights on:
Genetic Test Catch Malformation
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
Perhaps: If you have other birth defects (chiari can be secondary to spina bifida or be a part of syndromes), then chromosome testing may be indicated. Many chiari malformations occur alone, in which case genetic testing is not necessary. As genome sequencing becomes more rapid and available, genes conferring susceptibility to chiari and other isolated birth defects may become available for testing. ...Read moreSee 1 more doctor answer
What to do if I have recently had a genetic test and have been diagnosed with a genetic condition?
Genetic counselor: My suggestion is to contact your physician and ask to see a genetic counselor or a clinical geneticist ...Read more
We did genetic test and the results are that she has a quadruplication of 16 p 11.2 i would like help at understanding this !
Faulty duplication: Consider the process like making a few copies on the office machine. You want the copier to produce true copies, not copies with a smudge or other problem. As the eggs form, the dna of the egg should have a true copy of the normal cell. With any duplication or deletion, this active process can add or delete small pieces of dna. ...Read more
Is it true that there is no genetic test yet available to confirm a diagnosis of Ehler's Danlos Hypermobility type?
There r genetic test: There are genetic tests that can be used to confirm Ehler's Danlos Syndrome (EDS) type. You could speak with your physician and referral to a geneticist that could determine which genes are effected. One test that could be used is that of collagen gene mutation testing. ...Read more
I've had the iron profile tests, read them myself and they were within the normal range; do I need to be retested ever again and/or have the DNA genetic test, especially since I feel fine?
Hemochromatosis?: I presume you are asking whether or not you need to be screened again for hemochromatosis. Your profile says that you are only 22 years old. It can sometimes take until someone is in their forties until significant iron overload occurs if they are a man, and until their fifties if a woman. If you are worried about hemochromatosis, i would be checked every ten years or so. ...Read moreSee 1 more doctor answer
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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