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.
Price: $900 for the index case, $900 Reproductive partners of the index case $200 targeted testing for directly related family members for the variants(s) detected in either the index case or the reproductive partner respectively.
APPLICATION: Detection of mutations in the steroid 21-hydroxylase gene. Mutations in this gene are responsible for most cases of Congenital Adrenal Hyperplasia.
Gene: CYP21A2
Disease/s: Congenital Adrenal Hyperplasia (CAH).
Region/Mutation analysed: Exons 1 to 10, splice sites, promoter and common intronic mutations.
Method: Sanger Sequencing and MLPA
Specimen: 4 ml blood (EDTA) or 3µg genomic DNA.
Shipping: Room temperature.
Turn-around: 4-6 weeks.
For more details about this test please refer to our website (http://pathology.mater.org.au/for-doctors/individual-gene-tests).
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.