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Doctor insights on: Genetic Testing And Molecular Biomarkers

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Dr. Scott McLean
1,252 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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Scientists test for alleles that cause human genetic disorders by what method?

Scientists test for alleles that cause human genetic disorders by what method?

Molecular Methods: Identifying alleles associated with disease can be done by numerous different methods depending on the type of genetic alteration. Gene sequencing is often the gold standard. However, for disease caused by deletion or insertion of a segment of DNA, a technique called Fluoresense In Situ Hybridization is used. For detection of single base pair changes numerous different techniques can be used ...Read more

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What are the differences between genetic screening and genetic counseling?

What are the differences between genetic screening and genetic counseling?

Screening is done by: blood tests when family history, ethnicity or consanguinity confers risk of fetal inheritance of a mutant gene from both parents, thus, of having a disease. Screening for genetic accidents that cause chromosome anomalies is offered to all pregnant women. Folks with inherited disorders are counseled about risk of transmission. The disorder is explained to them & to women with + prenatal screens. ...Read more

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Is a noninvasive prenatal paternity bloodtest, done with blood from alleged fathers, cfdna and 317.000 genetic markers a reliable test?

Is a noninvasive prenatal paternity bloodtest, done with blood from alleged fathers, cfdna and 317.000 genetic markers a reliable test?

Yes: Make sure the identity of the alleged fathers and pregnant mother are confirmed. Make sure no tampering with the blood. Science can reveal the dna. ...Read more

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Please exlain alpha-fetoprotein testing for genetic disorders?

Please exlain alpha-fetoprotein testing for genetic disorders?

Alpha fetal protein: AFP is a fetal specific globulin, synthesized by the fetal yolk sac, gastrointestinal tract, and liver. The function of AFP is unknown. AFP blood levels can be measured during the second trimester to screen for open spina bifida and anencephaly, but can also uncover fetal abnormalities such as abdominal wall defects. AFP is also used in screening tests for downs syndrome and edwards syndrome. ...Read more

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Is brca genetic testing a simple blood test?

Is brca genetic testing a simple blood test?

Yes: BRCA testing can be performed from either blood or saliva. A significant amount of DNA needs to be present for adequate testing so most companies require more than a finger stick blood draw. Usually a single blood tube containing 3 ccs of blood is adequate ...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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Are genetic tests available to detect brca1 and brca2 mutations, and how are they performed?

Are genetic tests available to detect brca1 and brca2 mutations, and how are they performed?

Yes: Brca1 and 2 mutation analysis is performed at myriad lab in usa. One can either use an oral swab or blood for testing. It is strongly recommended that the testing is done in the context of genetic counseling as the interpretation of the test and risk assessment for breast/ovarian cancer are complex and requires professional explanations. ...Read more

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With bipolar ii, adhd, & c ptsd, what additional tests are beneficial? Ie: hormone, neurotransmitter , DNA mutation (mthfr, a1at ...) methylation etc.

Yes: I would definitely check mthfr and comt. Both these are involved in methylation. One is involved in neurotransmitter synthesis, and the other in breakdown. Therefore polymorphisms can impact mood, etc, and if so, vitamins and supplements can help the methylation cycle. I check mthfr in most of my patients. ...Read more

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Etiology of DNA mutations?

Replication error: Most changes in dna come from errors in the duplication of the dna. But changes can occur in the structure from radiation and some chemicals especially those used in chemotherapy. Most mutations are harmless, some are tracked down by your normal reparative mechanism but a few can cause trouble including cancer. ...Read more

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How do dna, mutation, genotype, phenotype, and natural selection interconnect to cause evolution?

How do dna, mutation, genotype, phenotype, and natural selection interconnect to cause evolution?

Modern synthesis: It's as well-established as anything in science, but would take more than 400 characters to explain. You owe it to yourself, as an educated person who must participate in community decision making, to understand it. There are a huge number of good books on the subject. Best wishes. ...Read more

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What are best labs for fetal or parental genetic testing?

What are best labs for fetal or parental genetic testing?

What labs genetic te: All reputable national labs like quest, labcorp or lacal labs qualified to do th e tests can do it in us. ...Read more

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Can preimplantation genetic diagnosis testing work on diagnosising ataxia telangiectasia?

Can preimplantation genetic diagnosis testing work on diagnosising ataxia telangiectasia?

Perhaps: It is a genetic disorder with the parents acting as carriers. Atcp.Org might be a good starting place to investigate genetic counseling prior to conception and try to evaluate your risk. ...Read more

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What is the difference in gene sequencing tests vs gene deletion/duplication tests? Should one type of genetic test be done before the other?

What is the difference in gene sequencing tests vs gene deletion/duplication tests?  Should one type of genetic test be done before the other?

Depends: Sequencing is like reading war and peace letter by letter, and deletion/duplication testing is like seeing if a chapter is completely missing or present as an extra copy. Which first? Depends on the condition. For duchenne muscular dystrophy, look for deletions first. For brca, sequence first. Your clinical geneticist can discuss the strategy with you. ...Read more

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What are the available genetic testing for detecting the carrier gene for colorblindness?

What are the available genetic testing for detecting the carrier gene for colorblindness?

Research tool: From my reading, it's been available for about a year as part of the reserach project for treating colorblindness with new genes. ...Read more

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How is genetic testing for heart conditions done? Blood test?

How is genetic testing for heart conditions done?  Blood test?

Geenetic consult: It is known that the heritability of heart disease is 45-55%, but only 10% of possible genetic causes have been found. Genetic testing usually begins by meeting with a genetic counselor and/or medical geneticist physician, individualized risk assessment; blood work for genetic testing when indicated. ...Read more

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Sev. Dev. Delay -array comparative genetic hybridization (acgh) results indicate no abnormalities- would full genetic sequencing be advised (knome)?

Sev. Dev. Delay -array comparative genetic hybridization (acgh) results indicate no abnormalities- would full genetic sequencing be advised (knome)?

Not necessarily: Newer genetic tests provide incite into a variety of issues like autism & other developmental variations.Yet causation remains elusive in many cases.Sadly, an injury to the developing brain centers from an unrecognized event in an otherwise normal pregnancy is a likely cause for many.This occurs in at least half of cerebral palsy cases & dev.Delay could be produced in others, yet hard to prove. ...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


Biomarker (Definition)

A biomarker is a test, usually a simple blood test, that determines the subtype of a medical condition to be more predictive of a therapeutic result or side effects. Bio markers are important for personalized therapies and having a major ...Read more