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The symptoms of 22Q-VCFS vary a lot from person to person, and some of them are very subtle. This can make it difficult to recognize and diagnose the syndrome. However, there are some clear reasons to consider testing, particularly when more than one symptom is present, and the symptoms are associated with developmental delay or learning difficulty.
A diagnosis of 22Q-VCFS can be confirmed by ordering a blood test, usually fluorescent in situ hybridization probe for microdeletion 22q11.2 (FISH 22q11.2).
Children and adults can also be referred to the Division of Human Genetics for more comprehensive diagnostic services.
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