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Sotos syndrome FISH

Also known as: Sotos FISH, cerebral gigantism FISH, NSD1 FISH

Test category:

Paediatric - Congenital disorder

Use of test


Deletion of the NSD1 gene on Chromosome 5 can cause a characteristic syndrome of abnormal neurodevelopment, malformations, and overgrowth (Sotos syndrome). This test provides diagnostic information.


In an affected person, an abnormal result is diagnostic of this microdeletion syndrome. Further family studies may clarify the recurrence risk in relatives.

A normal result does not exclude a clinical diagnosis as there are other mutations on Chromosome 5 which can cause the syndrome. Microarray testing can pick up smaller deletions within the Sotos gene.

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 in the NSD1 gene on Chromosome 5.

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:

3 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. If the patient is not eligible for rebated testing, please contact your local Sonic pathology practice for pricing.


The Medicare details, including descriptor and schedule fee, are listed under MBS item 73291.

Click here for our billing policy.