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Test Code: And1 Preferred Name Androgen receptor genotyping

No
N/A
When requested
4-6 weeks
Non-medicare Item
N/A

Test Tubes

ImageSpecimen TypeSpecimen VolumeTube Type
Blood (adult)6 mL2x EDTA 3 mL whole blood (Lavender top)
Blood (paediatric)3 mLEDTA 3 mL whole blood (Lavender top)
Blood (neonatal)3 mLEDTA 3 mL whole blood (Lavender top)

COLLECTION NOTES

N/A

GENERAL NOTES

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 - $900 for the index case, $200 for family members once the mutation is known.

Gene: AR

Disease/s: Androgen Insensitivity Syndrome (AIS), Testicular Feminization.

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.

Email: Molecular.Genetics@mater.org.au

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