The main purpose of this Manual is to provide useful guidelines for the selection of pathology tests and to facilitate interpretation of results.
Contains a comprehensive listing of all genes from the Human Gene Nomenclature Committee (HGNC) database alongside laboratories and tests available in the country.
A manual for the process of macroscopic dissection in Anatomical Pathology laboratories.
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This page contains details of all of the available single gene pathology tests that are maintained within this site. These can be searched alphabetically below or please use the search bar on the top left of the page to find single gene pathology tests more generally through part of the gene name or other characteristics.
A2M single QLD
A2ML1 single QLD
AAAS single QLD
AARS single QLD
AARS2 single QLD
AASS single QLD
ABAT single QLD
ABCA1 single QLD
ABCA12 single QLD
ABCA3 single QLD
ABCA4 single QLD
ABCB1 single QLD
ABCB11 single QLD
ABCB4 single QLD
ABCB6 single QLD
ABCB7 single QLD
ABCC11 single QLD
ABCC3 single QLD
ABCC6 single QLD
ABCC8 single QLD
ABCC9 single QLD
ABCD1 single QLD
ABCD2 single QLD
ABCD3 single QLD
ABCD4 single QLD
ABCG2 single QLD
ABCG5 single QLD
ABCG8 single QLD
ABHD12 single QLD
ABL1 single QLD
ABL1 tyrosine kinase domain mutation analysis Single CHRISTCHURCH
ABL2 single QLD
ACAA1 single QLD
ACACB single QLD
ACAD8 single QLD
ACAD9 single QLD
ACADL single QLD
ACADM single QLD
ACADS single QLD
ACADSB single QLD
ACADVL single QLD
ACAT1 single QLD
ACAT2 single QLD
ACBD5 single QLD
ACE single QLD
ACO2 single QLD
ACOT2 single QLD
ACOT8 single QLD
ACOX1 single QLD
ACOX2 single QLD
ACOX3 single QLD
ACP2 single QLD
ACSBG1 single QLD
ACSF3 single QLD
ACSL1 single QLD
ACSL3 single QLD
ACSL4 single QLD
ACSL5 single QLD
ACSL6 single QLD
ACTA1 single QLD
ACTA2 single QLD
ACTB single QLD
ACTC1 single QLD
ACTG1 single QLD
ACTN1 single QLD
ACTN2 single QLD
ACVR1 single QLD
ACVR2B single QLD
ACVRL1 single QLD
ACY1 single QLD
ADA single QLD
ADA single NSW
ADAM9 single QLD
ADAMTS10 single QLD
ADAMTS13 single QLD
ADAMTS18 single QLD
ADAMTSL4 single QLD
ADAR single QLD
ADCY5 single QLD
ADGRA3 single QLD
ADGRG1 single QLD
ADGRV1 single QLD
ADK single QLD
ADNP single QLD
ADRA2A single QLD
ADRA2B single QLD
ADRB1 single QLD
ADSL single QLD
AFF2 single QLD
AFG3L2 single QLD
AGA single QLD
AGK single QLD
AGL single QLD
AGPAT2 single QLD
AGPS single QLD
AGRN single QLD
AGT single QLD
AGTR1 single QLD
AGTR2 single QLD
AGXT single QLD
AHCY single QLD
AHI1 single QLD
AHSP single QLD
AIFM1 single QLD
AIMP1 single QLD
AIP single QLD
AIPL1 single QLD
AIRE single QLD
AIRE single NSW
AK1 single QLD
AK2 single QLD
AKAP10 single QLD
AKAP9 single QLD
AKR1C1 single QLD
AKR1C2 single QLD
AKR1C4 single QLD
AKR1D1 single QLD
AKR1E2 single QLD
AKT1 single QLD
AKT2 single QLD
AKT3 single QLD
ALAD single QLD
ALAS1 single QLD
ALAS2 single QLD
ALB single QLD
ALDH18A1 single QLD
ALDH1A3 single QLD
ALDH1B1 single QLD
ALDH2 single QLD
ALDH4A1 single QLD
ALDH5A1 single QLD
ALDH6A1 single QLD
ALDH7A1 single QLD
ALDH9A1 single QLD
ALDOA single QLD
ALDOB single QLD
ALG1 single QLD
ALG11 single QLD
ALG12 single QLD
ALG13 single QLD
ALG2 single QLD
ALG3 single QLD
ALG6 single QLD
ALG8 single QLD
ALG9 single QLD
ALK single QLD
ALMS1 single QLD
ALOX12B single QLD
ALOX5AP single QLD
ALOXE3 single QLD
Alpha Thalassaemia single QLD
Alpha Thalassaemia Single QLD
ALPL single QLD
ALS2 single QLD
AMACR single QLD
AMH single QLD
AMHR2 single QLD
AML-ETO single NSW
AML-ETO minimal residual disease single NSW
AMN single QLD
AMPD1 single QLD
AMPD3 single QLD
AMT single QLD
ANG single QLD
Angelman syndrome Single VIC
Angelman syndrome single VIC
ANGPTL2 single QLD
ANGPTL3 single QLD
ANK1 single QLD
ANK2 single QLD
ANK3 single QLD
ANKK1 single QLD
ANKRD1 single QLD
ANKRD11 single QLD
ANKRD26 single QLD
ANKS4B single QLD
ANKS6 single QLD
ANO10 single QLD
ANO3 single QLD
ANO5 single QLD
ANO6 single QLD
ANOS1 single QLD
ANPEP single QLD
ANTXR1 single QLD
ANXA4 single QLD
ANXA5 single QLD
AOC1 single QLD
AOC2 single QLD
AP1S2 single QLD
AP2S1 single QLD
AP2S1 mutational analysis. single WA
AP3B1 single QLD
AP4B1 single QLD
AP4E1 single QLD
AP4M1 single QLD
AP4S1 single QLD
AP5Z1 single QLD
APC single QLD
APO E Single QLD
APOA1 single QLD
APOA2 single QLD
APOA5 single QLD
APOB single QLD
APOC2 single QLD
APOC3 single QLD
APOE single QLD
Apolipoprotein E genotyping single NSW
APP single QLD
APRT single QLD
APTX single QLD
AQP2 single QLD
AQP7 single QLD
AQP9 single QLD
AR single QLD
ARAF single QLD
ARFGEF2 single QLD
ARG1 single QLD
ARG2 single QLD
ARHGEF6 single QLD
ARHGEF9 single QLD
ARID1A single QLD
ARID1B single QLD
ARL13B single QLD
ARL14EP single QLD
ARL6 single QLD
ARNT2 single QLD
ARNTL single QLD
ARSA single QLD
ARSB single QLD
ARTN single QLD
ARX single QLD
ASAH1 single QLD
ASCC1 single QLD
ASCC3 single QLD
ASCL1 single QLD
ASH1L single QLD
ASL single QLD
ASMT single QLD
ASNS single QLD
ASPA single QLD
ASPM single QLD
ASS1 single QLD
ASXL1 single QLD
ASXL2 single QLD
ASXL3 single QLD
ATCAY single QLD
ATG7 single QLD
ATIC single QLD
ATL1 single QLD
ATM single QLD
ATN1 single QLD
ATOH7 single QLD
ATP13A2 single QLD
ATP1A2 single QLD
ATP1A2 - Familial Hemiplegic Migraine, Type 2 Single QLD
ATP1A3 single QLD
ATP2A1 single QLD
ATP2A2 single QLD
ATP2B3 single QLD
ATP5F1A single QLD
ATP5F1E single QLD
ATP6AP2 single QLD
ATP6V0A2 single QLD
ATP7A single QLD
ATP7B single QLD
ATP8B1 single QLD
ATPAF2 single QLD
ATR single QLD
ATRX single QLD
ATXN1 single QLD
ATXN10 single QLD
ATXN2 single QLD
ATXN3 single QLD
ATXN7 single QLD
ATXN8OS single QLD
AUH single QLD
AURKC single QLD
AUTS2 single QLD
AVP single QLD
AVPR2 single QLD
AXIN2 single QLD
AXL single QLD
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The RCPA is the leading organisation representing Pathologists and Senior Scientists in Australasia.
Its mission is to train and support pathologists and senior scientists and to improve the use of pathology testing to achieve better healthcare.
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