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Doctor insights on: Genetic Test Catch Malformation

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Is there a genetic test to catch an arnold chiari malformation early?

Is there a genetic test to catch an arnold chiari malformation early?

Not yet: Arnold chiari malformation can occur by itself or in association with other congenital abnormalities. There is no specific genetic test for arnold chiari yet. ...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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If I have an arnold chiari malformation, should I get genetic testing to check for other things?

If I have an arnold chiari malformation, should I get genetic testing to check for other things?

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 more

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What disease does the genetic test fish deal with?

Many disease: Fish refers to fluorescent in-situ hybridization and is one way of performing dna analysis. It is used for many diseases by using different probes for different diseases including cancer and inherited genetic defects. See this site for more info. http://www.webmd.com/cancer/fish-cancer-test. ...Read more

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Is there a genetic test to see if someone has chiari?

Is there a genetic test to see if someone has chiari?

No: Children born with open spina bifida are at increased risk for chiari type 2 due to lower position of posterior brain structures. There may be some increased risk for this problem in some families but there is a nutritional role and other factors also. Adults without any spina bifida history can get chiari type 1. There is no firm genetic pattern that is predictive of the chiari type 1. ...Read more

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How much does the hnpcc genetic test cost these days?

How much does the hnpcc genetic test cost these days?

Depends: The cost of genetic testing is a moving target these days as the costs of sequencing has come down substantially. Several companies are offering panels of clinically relevant genes including genes that increase risk of colon cancer such as the hnpcc genes. An example of a company is ambry genetics. A genetic counselor can help you research different panels and costs. ...Read more

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What can you tell me about genetic testing for chromosomal abnormalities?

What can you tell me about genetic testing for chromosomal abnormalities?

Too complicated: Please go the web address given below for into. One type of common disorder is Down Syndrome. http://www.genome.gov/11508982 ...Read more

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Does a genetic test exist for the disease achromatopsia, or colorblindess?

Does a genetic test exist for the disease achromatopsia, or colorblindess?

Yes: Mutations in one of these several genes will cause colorblindness. These are autosomal recessive mutations. The genes are: achm2-alpha subunit of the cone photoreceptor cgmp-gated cation channel, on chromosome 2q11; achm3- cngb3 gene, the beta subunit of the cone cyclic nucleotide-gated cation channel, on chromosome 8q21; achm4- gnat2 gene, Alpha subunit of cone transducing, on chromosome 1p13. ...Read more

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Is there a genetic test that can help with knowing if your child will have a learning problem?

Depends on issue: There are a variety of chromasomal markers now available to confirm problems like fragile x, and other names symdromes where learning problems are common.Some newer marker are associated with autism & autism spectrim disorder that may help explain some of their learning problems. However, i know of no test that would accurately predict any specific learning disorder as the child got older. ...Read more

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Can a child still have menkes disease if genetic test was negative but had low copper and ceralplasmin?

Can a child still have menkes disease if genetic test was negative but had low copper and ceralplasmin?

Your query piqued my: interest, so I researched it. Yes, there are different molecular genetic methods to diagnose Menke's Syndrome. Ask your child's doctors to contact the MD who has confirmed a genetic defect in the ATP7A gene on Xq21.1 in 94% of cases he's seen: Stephen G Kaler, MD, MPH Head, Unit on Human Copper Metabolism National Institutes of Health Rockville, Maryland kalers@mail.nih.gov ...Read more

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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?

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 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