Doctor insights on:
Apc Gene Deletion Or Duplication
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
Should I screen my children for ovarian cancer genes since it seems to be so deadly? There is no history in my family.
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 moreSee 1 more doctor answer
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
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
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 moreSee 1 more doctor answer
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
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
- Talk to a doctor live online for free
- Mlh1 and msh2 deletion and duplication
- Germline apc gene mutation
- Apc gene sequencing
- Ask a doctor a question free online
- Craniofacial duplication
- Duplication mutation diseases
- What is a duplication cyst?
- Talk to a clinical geneticist online for free