Use of test
Angelman syndrome is a congenital disorder characterised by developmental delay, mild dysmorphic features and specific neurodevelopmental behaviours. It is usually due to a specific deletion on Chromosome 15; other mechanisms at this location can also cause the syndrome. This test provides diagnostic information.
In an affected child, an abnormal result confirms the diagnosis of Angelman syndrome. Further family studies may clarify the recurrence risk in relatives.
These mutations are usually de novo and do not increase the risk of this disorder in siblings or other relatives. However a parent and other relatives may carry a balanced translocation involving this chromosome region and be at increased risk of having an affected child.
Fluorescent in situ hybridisation (FISH) analysis, using probes to identify deletions at Chromosome 15q11.2. A normal result does not exclude the diagnosis of Angelman syndrome as there are other mutations on Chromosome 15 which can cause the syndrome; further studies may be warranted.
Requesting the test
This test is usually requested by a paediatrician or clinical geneticist. A full karyotype is usually requested at the same time.
2-5 mL blood in EDTA and 2-5 mL blood in lithium heparin. Specimens may be collected by the requesting practitioner or at any Sonic Healthcare collection centre (see link below).
To help ensure the quality of the test, a genetic test should be done with a dedicated sample whenever possible i.e. a sample collected specifically for that test rather than a sample that is used for multiple tests.
We recommend that the patient or another adult check the labelling of request forms and sample tubes.
If the clinical diagnosis is uncertain, it may be preferable to request a microarray study rather than this specific FISH test as a microarray screens for microdeletions and duplications across all chromosomes.
25 business days.
This test has a Medicare rebate which, subject to the requirements of the Medicare descriptor being met, may cover all or part of the cost.
The Medicare details, including descriptor and schedule fee, are listed under MBS item 73291.