Pathology Test Details

Item Details
Laboratory Sir Charles Gairdner Hospital : Department of Diagnostic Molecular Genetics - WA
Test Name AP2S1 mutational analysis.
Genes Tested AP2S1
Test Description This test is limited to patients provisionally diagnosed (through biochemistry and/or family history) with familial hypocalciuric hypercalcaemia 3 (FHH III) in whom CASR mutations have been excluded.
Method mutation screen
Test Type single
Comment Exon 2 of the AP2S1 gene is examined by heterozygous sequence analysis for mutations in the Arg 15 codon now known to give rise to FHH3
Test Accreditation Not In NATA Scope
Clinical Context Heritable variants
Sample Required Either DNA (already extracted) - at least 10 microgram or at least 2 ml of whole blood (can be heparinized) from which we can extract DNA.
Turn Around Time 1 month
Medicare Rebate No Medicare rebate
Pathology Test Last Edit Date 3/07/2017 11:47:44 AM
03-Jul-2017
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25-Jan-2019
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