Disorders/Differences of Sex Differentiation (DSD) are conditions where the development of chromosomal, anatomical or gonadal sex is atypical. DSD covers a wide spectrum of disorders such as hypospadias (misplacement of the urethral opening on the penis), premature ovarian insufficiency and complete sex reversal (where the physical sex does not match the genetic sex of an individual).

DSD cases are surprisingly common, with a frequency of 1 in 4,500 births. The underlying cause of many DSD cases is the failure of genes responsible for the proper development of the reproductive organs during fetal development. Unfortunately, the underlying genetic cause of around 70% of DSD cases is unknown.

What is this test?

VCGS offers exome and genome sequencing for the diagnosis of DSD.
Testing using the DSD panel from PanelApp Australia.

How do I arrange a test?

Testing for these conditions is arranged through a doctor or specialist.

Please refer to our genomic sequencing page for information about test ordering. The DSD phenotype form below must be completed and submitted with a request for testing. Detailed phenotype information is needed for accurate testing and result interpretation.

Reporting time: testing takes 3-4 months.

Optional research testing: Should the results of the panel testing be uninformative, there is an option for patients to have further testing through participation in research. This research is conducted by Professor Andrew Sinclair at the Murdoch Children’s Research Institute. Please contact Dr Katie Ayers for more details about research participation: (03) 9345 4357 or [email protected]

P: 1300 118 247
E: [email protected]