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Doctor insights on: Genetic Testing

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Dr. Katherine Sutherland
1,196 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 answer some important questions


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If our baby passes genetic testing, does that mean it will be born without genetic defects?

If our baby passes genetic testing, does that mean it will be born without genetic defects?

No: Unfortunately having a normal serum screen does not mean that a fetus has no genetic abnormalities. Even genetic amniocentesis will not test for all conditions a baby might have at birth. These tests combined with an expert ultrasound around 18-22 weeks can help rule out congenital anomalies and genetic disorders. But testing can't tell parents with 100% certainty if their child will be normal. ...Read more

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Dr. John Gargus
Board Certified, Clinical Genetics
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Dr. Katherine Sutherland
1,196 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 answer some important questions


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What is the earliest week that I can have genetic testing for downs?

What is the earliest week that I can have genetic testing for downs?

After 10 weeks: First trimester screening for down syndrome is done at 11 to 13 weeks. Definitive diagnosis through cvs sampling and chromosomal analysis can be done after 10 weeks. ...Read more

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Dr. John Gargus
Board Certified, Clinical Genetics
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Preventing Breast Cancer (Tip)

Preventing Breast Cancer

Ask about genetic testing. Those with brca mutations have an 80% chance of developing breast cancer. ...See more

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Can you force a family member to get genetic testing?

Can you force a family member to get genetic testing?

No: An individual must give permission to have genetic testing performed. Carrier testing for genetic disease is usually not done in children until they are able to give informed consent. ...Read more

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What are the pros and cons of getting genetic testing done on myself? Just curious.

What are the pros and cons of getting genetic testing done on myself? Just curious.

Be specific: If a close relative has a known genetic disease, you have a duty yourself to know whether you carry it. If you are from a population with a lot of sickle cell disease, you owe it to yourself and the person with whom you plan to have children to know whether you have the trait. That's all you'll want. Good luck. ...Read more

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Preventing Breast Cancer (Tip)

Preventing Breast Cancer

Do note that genetic testing for brca gene mutations is possible for family history of breast cancer. ...See more

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My son had genetic testing when he was 2. I just read about 22q11.2 deletion syndrome. Would that be detected from standard genetic testing?

My son had genetic testing when he was 2. I just read about 22q11.2 deletion syndrome. Would that be detected from standard genetic testing?

It would now, from a: Chromosomal Microarray, molecular genetic testing that is standard of practice for geneticists & developmental pediatricians for infants & children with developmental delays &/or Autistic Spectrum Disorder. A standard karyotype would not have identified a small sequence of deleted genes at 22q.11.2., only a FISH test of Chromosome 22 in the VCF region., done if there was clinical suspicion. ...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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Anorexia (Tip)

Anorexia

It is not always about body image. Although highly genetic, it usually starts as a way of coping. ...See more

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Can you tell me about genetic testing what company would work since I'm not looking for relatives.?

Can you tell me about genetic testing what company would work since I'm not looking for relatives.?

Unsure: I've heard mixed reviews on tests like AncestryDNA. Not really something a physician would recommend. I'd research it first. ...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


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Dr. John Gargus
Board Certified, Clinical Genetics
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