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A member asked:

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

1 doctor answer3 doctors weighed in
Dr. James Ferguson
Pediatrics 47 years experience
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.

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A member asked:

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?

2 doctor answers2 doctors weighed in
Dr. Jalal Zuberi
Pediatrics 46 years experience
Yes: The 22q11.2 deletion syndrome is diagnosed in individuals with a submicroscopic deletion of chromosome 22 detected by fluorescence in situ hybridization (FISH.), See link for more details
Last updated Apr 24, 2016

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