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Doctor insights on: Genetic Testing

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Dr. Scott McLean
1,249 doctors shared insights

Genetic Testing (Overview)

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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Can genetic testing ever be wrong?

Can genetic testing ever be wrong?

Sure: Genetic testing can be wrong due to many possible problems: mixed up specimens from someone else; degraded dna that can't be analyzed; lab errors in procedures; errors in reporting the results. You should always check on the lab and go over the diagnoses with a physician who knows you and as appropriate with a genetic counselor. A lot of this testing is highly automated, but can still have error. ...Read more

Dr. Scott McLean
1,249 doctors shared insights

Genetic Testing (Overview)

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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How much does genetic testing cost?

How much does genetic testing cost?

Depends: It really depends. If your affected family member(s) have already had detailed testing, testing for you can cost just a few hundred dollars, depending on what kind of syndrome. If you are "fishing" for a diagnosis, this can costs many thousands of dollars. Generally genetic tests should be done only if there is a specific question that you and your doctor are trying to answer. ...Read more

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Can you tell me is genetic testing a waste?

Can you tell me is genetic testing a waste?

Depends on situation: Some genetic tests are detailed, specific and allow you to know what to expect from the patient in the future. Chromosome studies, fish probes for diagnostic markers, etc provide information early that allows early detection and treatment of silent problems. Other studies are less specific and only suggest an increased risk for some condition. Value is in the eye of the person seeking information. ...Read more

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To what extent is genetic testing successful?

Rephrase: What do you mean by successful? Accuracy of genetic testing? Are you talking about genetic testing of an embryo? Genetic testing of an adult? What type of genetic testing? Please re-write question and we can give you a more accurate answer. ...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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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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Can you tell me about genetic testing what does it mean?

Can you tell me about genetic testing what does it mean?

Nonspecific question: There are dozens of tests that might be labeled as relating to genetic disease. Most look at a specific issue (genetic problem) and test blood or tissue for evidence that the patient has a genetic profile that shows they do or don't have the condition or are a carrier. ...Read more

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What are some positive outcomes of genetic testing?

What are some positive outcomes of genetic testing?

Vast issue: Genetic testing can help with diagnosis of tumors, indicate optimal treatment of tumors and other disease, help in prognostication, risk of development of some diseases, e.g. Colon cancer. Genetic testing is essential for counseling in inherited disorders, e.g., tay sachs disease. Genetic testing may be used for diagnosing diseases in the fetus and the list is increasing rapidly. ...Read more

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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 are the options for individual genetic testing like 23 and me?

What are the options for individual genetic testing like 23 and me?

Question missing?: Your question appears incomplete — try again. ...Read more

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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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What are the disadvantages and advantages of getting genetic testing done.?

Genetic counselor: You should talk with a genetic counselor regarding the specific disease(s) you are worried about. The pros include being able to plan for long-term, reproductive issues, and maybe getting into a clinical trial. The cons include depression or worse with a positive test, not knowing when the disease will strike, and possibly affecting your ability to be insured (even it shouldn't). ...Read more

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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 sickles 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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How seriously should I take health information obtained from 23andme genetic testing?

How seriously should I take health information obtained from 23andme genetic testing?

Still lots to learn: I believe genetic testing will be an extremely important and standard tool in the future. There is evidence that tests like this can tell whether you are more or less susceptible to many diseases. That said, genetics alone do not determine health risks; diet and lifestyle often play a larger role; fortunately, 23andme acknowledges this & discusses what is known about this. Please see my comment:. ...Read more

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Can you please discuss the of the social and ethical issues involved in genetic testing?

Can you please discuss the of the social and ethical issues involved in genetic testing?

Many: What do you do with the results? Do you abort a child because they have a genetic disorder that will decrease survival -- but not kill them? If you know someone has a genetic disease, do you allow them to get married? Have children? Do you offer treatments (organ transplant) to someone you know will have. ...Read more

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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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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

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What current genetic testing can I have done to find out if I risk factor certain physical and mental illnesses and diseases?

Why?: There is no "overall gene testing for everything". You have to talk to your physician who will take a good history and physical and determine if you need evaluation by a genetic counselor and testing for a specific condition. Everything must be done in context. ...Read more

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Had two m/cs and want to try again. Drs won't do genetic testing because there were only two m/cs. What can I do to make chances better?

Had two m/cs and want to try again. Drs won't do genetic testing because there were only two m/cs. What can I do to make chances better?

Find better doctor: After 2 miscarriages, I understand totally your desire for further work-up. You need to see a mfm (maternal-fetal-medicine) specialist, who can go through your history, family history check your exam and then decide whether further pre-conception testing is warranted. You need to discuss and investigate prior to next conception, especially if miscarriages occurred early in the pregnancy. ...Read 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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Who needs apc genetic testing?

History of polyps: General indications for APC gene testing include patients who themselves have had 10 or more adenomas or have had a desmoid tumor, or patients who have a family member with an APC gene mutation found on genetic testing. ...Read more

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Can they do genetic testing for sexual orietation?

No: No genes are really known, and hopefully the day will never come when a parent would choose to end a pregnancy because they don't like the kid's hair color, eye color, sexual orientation (however much of this is genetic), height, musical talent or whatever. ...Read more

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Is genetic testing for adrenoleukodystrophy possible?

Yes: Because adrenoleukodystrophy is a genetic condition, there are tests for it. You can find some good information about the disorder, testing and centers that are experts in the disorder at the national organization for rare diseases (nord). Their website is www.Rarediseases. Org. Disorders are listed alphabetically, along with hospitals/providers that have special expertise in the disorder. ...Read more

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How much does genetic testing cost in general (amnio)?

Cost of amniocetesis: Cost varies from region to region, but average cost of amniocentesis is about 1500 dollars, if you have insurance and there is a valid indication, it is a covered. ...Read more

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Can holoprosencephaly be detected early by any genetic testing?

Can holoprosencephaly be detected early by any genetic testing?

Yes: It can be detected during the pregnancy, but by the mean of the obstetrical ultrasonography and depends on the skills of the technician performing the procedure.
The other screening tests performed during pregnancy, may predict some chromosomal disorders, associated with holoprosencephaly, such as trisomy 13. ...Read more

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Why should I have genetic testing done for reproductive purposes?

Why should I have genetic testing done for reproductive purposes?

Genetic tetsting: If you are having fertility problems, genetic testing is an important tool. Some people carry recessive genes for chronic illnesses or degenerative diseases that can be fatal to the fetus. Performing genetic testing on both parents-to-be will be very helpful in deciding whether even to have a baby. ...Read more

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What genetic testing can be done for sudden unexplained death besides lqts?

What genetic testing can be done for sudden unexplained death besides lqts?

Many: Hypertrophic cardiomyopathy
dilated cardiomyopathy
arrhythmogenic right ventricle
brugada syndrome
short qt syndrome
catecholamine driven polymorphic vt

... And others, too.

Check out www.Sads. Org for more information.

Of course, there can be non-genetic causes of sudden death as well. ...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