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A member asked:

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

2 doctor answers10 doctors weighed in
Dr. Tanya Russo
Pediatrics 26 years experience
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.
Dr. James Ferguson
Pediatrics 47 years experience
Not basic karyotype: The basic karyotype is primarily used as confirmation of something like Down syndrome when a simple extra chromosome is the cause. It documents the number of chromosomes found in the cell tested. More detail is needed to fine deletions. Prophase banding, microarray and FISH studies are often used to look for these defects.

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Last updated Oct 23, 2017


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