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Doctor insights on: Malformation Genetic Testing Other

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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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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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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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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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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?

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

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