SRY FISH« Back to test list
The SRY gene is a key determinant of the development of male physical characteristics in the fetus. It is usually located on the Y chromosome. Abnormalities of gender differentiation can be due to deletion or mislocation of this gene. The test provides diagnostic information.
In an affected person, an abnormal result usually provides a genetic diagnosis and the basis for genetic counselling. Further family studies may clarify the recurrence risk in relatives.
A normal result does not exclude a genetic or heritable basis for the disorder as a number of other genes can be involved in abnormalities of gender differentiation.
Analysis for the presence and chromosomal location of the gene by fluorescent in situ hybridisation (FISH).
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 lithium heparin. Specimens may be collected by the requesting practitioner or at any Sonic Healthcare pathology collection centre.
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 also recommend that the patient or another adult check the labelling of request forms and sample tubes.
Please note on the request form whether the requirements of the MBS item descriptor have been satisfied. If this information is not provided, the patient will be billed as a private patient and a Medicare rebate will not be available.