This is a non-schedule test. Please advise the patient that this test is not covered by Medicare and they will have out-of-pocket expenses. Cost - $850 for the index case, $200 for family members once the mutation is known.
Region/Mutation analysed: Proximal promoter, all exons, splice sites, 3'UTR and CAG repeats.
Method: Sanger Sequencing.
Specimen: 4ml blood (EDTA) or 3 µg genomic DNA.
Shipping: Room temperature.
Turn-around: 4-6 weeks.
Other: Alternatively, this gene may be analysed by Next Generation Sequencing by requesting the following gene panel - 46,XY Disorders of Sex Development (DSD).
For more details about this test please refer to our website (http://pathology.mater.org.au/for-doctors).
Shipping: Room Temperature (please contact the laboratory +61 7 3163 8500 for instructions on shipping samples from outside of Australia).
Address: Mater Pathology, Level 6, Mater Hospital Brisbane, Raymond Terrace, South Brisbane, QLD 4101, Australia.
