22q11 microdeletion syndrome, DiGeorge syndrome, CATCH22, velocardiofacialt syndrome

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Indication	Clinical suspicion of 22q11 microdeletion syndrome (also called DiGeorge syndrome, CATCH22 or velocardiofacialt syndrome).
OMIM#	188400
Specimen	7,5 ml blood in EDTA-glass.
Analysis	Analysis for deletion and duplication in 22q11.2 with MLPA-technique. A normal result of the analysis dos not completely exclude the diagnosis. The disease can be caused by other mutations. Contact the department for further information.
Delivery	Mail, we receive samples Monday to Friday. Within the opening hours.
Response time	6 weeks.
Prenatal diagnosis	Only by prior arrangement. Response time: less than 2 weeks, contact the attending doctor for further information.