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Doctor insights on: Apc Gene Deletion Or Duplication

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Who needs apc genetic testing?

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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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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Should I screen my children for ovarian cancer genes since it seems to be so deadly? There is no history in my family.

Should I screen my children for ovarian cancer genes since it seems to be so deadly?  There is no history in my family.

No: There is no simple screen for ovarian cancer susceptibility beyond the breast-ovarian cancer gene (brca) testing that costs $2600-3300. Only families with cases of ovarian or early onset (<45) breast cancer should consider this testing. ...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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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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Are gene mutations common? What about deletions?

Are gene mutations common? What about deletions?

Gene mutations: Truthfully, the human genome project has revealed that mutations are common. Deletions exist. The impact is not fully understood. But is real. ...Read more

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Would a standard genetic test detect 22q11.2 deletion syndrome? My son had genetic testing done at 2 yo.

Standard genetic ?: There are thousands of genetic related tests I am aware of and each has its uses for specific cases. A simple chromosome study would not pick up this deletion.A high resolution study would likely find it in most specialty labs.Some also do a specific study using a genetic probe.This is a question best answered by the folks who did the study in question. ...Read more

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What is the genetic disorder 22q deletion?

What is the genetic disorder 22q deletion?

22q11 deletion: 22q deletion could be any deletion on chromosome #22, in the q arm of chromosome. Each chromosome has a short (p) and a long (q) arm. On both arms many areas that can be deleted. The most common is the 22q11 deletion syndrome which is variable ranging from perhaps mild learning difference to congenital heart defect, immunodeficiency, or hypocalcemia (low blood calcium). Many genes are involved. ...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?

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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Can karotyping detect 22q11.2 deletion syndrome? What is the standard pediatricians use if they are testing for genetic disorders?

 Can karotyping detect 22q11.2 deletion syndrome? What is the standard pediatricians use if they are testing for genetic disorders?

No: Usually for a 22q11.2 syndromes, a diagnostic technique called FISH is performed. There are numerous ways to detect genetic issues and the diagnostic modality will depend on what one is looking for. This may include simple karyotyoing to more sophisticated gene sequencing. A genetic counselor may be able to help you. ...Read more

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Would karotyping detect 22q11.2 deletion syndrome? What standard do most pediatricians use when doing genetic testing on a 2 year old?

Would karotyping detect 22q11.2 deletion syndrome? What standard do most pediatricians use when doing genetic testing on a 2 year old?

Genetic testing: The numbers of specific tests available with chromosomal analysis is vast. Typically, a karyotype is ordered along with additional genetic tests to evaluate for specific conditions. Microarray and FISH are examples. ...Read more

Gene (Definition)

A hereditary unit consisting of a sequence of dna that occupies a specific location on a chromosome and determines a particular characteristic in an organism. Genes undergo mutation when their ...Read more


Dna (Definition)

Dna are the coding molecules found in all living things on earth which contain the instructions on how to build living things. Its is comprised the nucleotide molecules which are ...Read more