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Test Code: Hyd1 Preferred Name Congenital adrenal hyperplasia mutation testing

No
2 weeks (prenatal only)
2 months
8 weeks
Non-medicare Item
N/A

Test Tubes

ImageSpecimen TypeSpecimen VolumeTube Type
Blood (adult)5 mLEDTA 6 mL (Pink top)
Blood (paediatric)2 mLEDTA 3 mL whole blood (Lavender top)
Blood (neonatal)2 mLEDTA 3 mL whole blood (Lavender top)

COLLECTION NOTES

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.

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.


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