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Phelan-McDermid syndrome FISH

Also known as: 22q13 deletion FISH

Test category:

Paediatric - Congenital disorder

Use of test


Deletion of the SHANK3 gene on Chromosome 22 causes a syndrome of developmental delay, hypotonia and features of autistic spectrum disorder called Phelan-McDermid syndrome (PMS). The deletion is often too small to be seen by conventional chromosome studies. This test provides diagnostic information.


In an affected person, an abnormal result is diagnostic of this microdeletion syndrome. A normal result makes it unlikely that the patient has this disorder.

Ethical considerations:

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 located within 22q.

Requesting the test


This test is usually requested by a paediatrician or clinical geneticist. A full karyotype is usually requested at the same time.

Sample required:

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.

>Link to Sonic Healthcare collection centres

Special instructions:

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.

>Link to Microarray test

Turnaround time:

15 business days for karyotype and FISH study; 3 business days for FISH alone.


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.

Click here for our billing policy.