Test description
Testing of genes associated with Gorlin syndrome in patients with clinical features suggestive of this condition.
Test information
Test name
BRAoVOTM Gorlin syndrome gene panel
Clinical indication
Testing for patients with clinical featuresconsistent with Gorlin syndrome, including multiple basal cell carcinomas orcharacteristic developmental features. Results may confirm diagnosis and informmanagement, surveillance, and familial risk assessment.
Gene(s)
PTCH1, SUFU
Method
Massively parallel sequencing
Turn around time
4 - 5 weeks
Medicare eligibility
None
Price
$499
Test request form
Cancer genetics test request form preferred. Standard pathology request form accepted.
Sample type
Blood x 2
Collection type
EDTA
Special instructions
2 x Bloods taken at 10 minute intervals. Pre-test genetic counselling required. Patient to provide consent prior to testing.
FAQ
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Resources
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