Uses fluorescent DNA probes (FISH) to detect the 7q11.23 deletion that causes Williams syndrome in cells.
Diagnoses Williams syndrome (7q11.23 deletion) in children with heart defects, distinctive facial features, developmental delay and a very sociable personality.
Suspected inherited conditions, family history, or as advised by a specialist or genetic counsellor.
No fasting needed.
This article is for general information and education only. It is not medical advice, does not create a doctor–patient relationship, and is not a substitute for consultation with a qualified doctor who has assessed your individual situation. Never delay seeking medical advice because of something you have read here.
In a medical emergency, call 112, or 108 for an ambulance where that service operates, or go to your nearest emergency department. If you are in mental health distress, Tele-MANAS is free and available 24×7 on 14416.
Read our Editorial Policy and Medical Review Process.
Yes. A genetic counsellor or specialist can explain what the result means for the patient and family.
No fasting is needed. You can eat and drink normally unless your doctor has advised otherwise.
Blood sample (sodium heparin tube); prenatal samples are used for prenatal testing.
Usually within 8–9 days after the sample reaches the lab. You will receive the report online.