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Pathology Tests

The pathology test listing includes most of the pathology tests available to the clinician. The entries are brief. Where further information is required the reader should consult the pathologist.

Some of the tests listed in the RCPA Manual may have specific laboratory requirements. Please consult your local laboratory for further details.

Where reference intervals are included, please note that although most laboratory methods are now standardised, inter-laboratory differences may still occur. Individual results should be assessed using the reference intervals quoted by the pathology laboratory performing the pathology test.

Background information about the Pathology Services section of the Australian Government Medicare Benefits Schedule can be found at Medicare-Benefits-Schedule-MBS.
 


Single Gene

A selection of single gene tests offered by laboratories on this site.


Gene Panels

A selection of gene panel tests offered by laboratories on this site.


Cytogenetics

A selection of cytogenetic tests offered by laboratories on this site.


Microarray

A selection of microarray tests offered by laboratories on this site.


Genomic Sequencing

A selection of genomic sequencing tests offered by laboratories on this site.


SNPs

A selection of Single Nucleotide Polymorphism tests offered by laboratories on this site.

Search alphabetically for gene tests :

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0-9

A

Angelman syndrome Single VIC

Angelman Syndrome (UBE3A gene) Molecular ACT

Angelman Syndrome Molecular ACT

AML-ETO single NSW

AML-ETO minimal residual disease single NSW

AML1/ETO FISH Cytogenetic QLD

Alpha Thalassaemia Panel NSW

Alpha Thalassaemia Single QLD

Alpha thalassaemia Panel NSW

Arrhythmogenic Right Ventricular Cardiomyopathy Panel VIC

Arrhythmogenic Cardiomyopathy Gene Panel Panel QLD

Arrythmia full panel Panel VIC

API2/MALT1 FISH Cytogenetic QLD

ABL1 tyrosine kinase domain mutation analysis Single CHRISTCHURCH

AXIN2 single QLD

AVPR2 single QLD

AVPR2 single QLD

AVP single QLD

AVP single QLD

AURKC single QLD

ATXN7 single QLD

ATXN7 single QLD

ATXN2 single QLD

ATXN1 single QLD

ATR single QLD

ATP7B single QLD

ATP7A single QLD

ATP2A2 single QLD

ATP1A2 - Familial Hemiplegic Migraine, Type 2 Single QLD

ATM single QLD

ATM single QLD

ATM single QLD

ATL1 single QLD

ASPA single QLD

ASL single QLD

ASCC1 single QLD

ARSA single QLD

ARL6 single QLD

ARL6 single QLD

AR single QLD

AQP2 single QLD

AQP2 single QLD

APTX single QLD

APP single QLD

Apolipoprotein E genotyping Single NSW

APO E Single QLD

Apolipoprotein E Molecular WA

APOE single QLD

APOC2 single QLD

APOB single QLD

APOA1 single QLD

APOA1 single QLD

APC single QLD

APC single QLD

APC single QLD

AP2S1 mutational analysis. single WA

AP2S1 single QLD

ANTXR1 single QLD

ANOS1 single QLD

ANK2 single QLD

AMT single QLD

AMHR2 single QLD

AMH single QLD

ALPL single QLD

ALMS1 single QLD

ALMS1 single QLD

ALK single QLD

ALK single QLD

ALK-FISH Cytogenetic QLD

ALDH1A3 single QLD

ALDH18A1 single QLD

ALB single QLD

AKT2 single QLD

AKT1 single QLD

AKT1 single QLD

AKR1E2 single QLD

AKAP9 single QLD

AIRE single QLD

AIRE single NSW

AIRE single QLD

AIPL1 single QLD

AIPL1 single QLD

AIP single QLD

AHI1 single QLD

AGTR1 single QLD

AGT single QLD

AGK single QLD

ADSL single QLD

ADGRV1 single QLD

ADGRA3 single QLD

ADAMTSL4 single QLD

ADAMTS18 single QLD

ADAMTS10 single QLD

ADAM9 single QLD

ADA single NSW

ADA single QLD

ACTN2 single QLD

ACTG1 single QLD

ACTC1 single QLD

Aortopathy Gene Panel Panel QLD

Aortopathy Panel VIC

ACTA2 single QLD

ACO2 single QLD

ACE single QLD

ACBD5 single QLD

ACADVL single QLD

ABHD12 single QLD

ABCG8 single QLD

ABCG5 single QLD

ABCD1 single QLD

ABCD1 single QLD

ABCC9 single QLD

ABCC8 single QLD

ABCC6 single QLD

ABCA4 single QLD

ABCA4 single QLD

ABCA1 single QLD

Amyotrophic Lateral Sclerosis (ALS) /Famillial Motor Neuron Disease (MND) Test - NGS Panel Genomic NSW

Angelman syndrome single VIC

B

bcl-2/IgH translocation analysis Single NSW

Beta Thalassaemia Single NSW

Beckwith Wiedemann syndrome. Panel VIC

Brugada Syndrome (GPD1L, SCN1B, SCN3B, SCN5A genes) Panel ACT

Brugada syndrome, Ventricular fibrillation, sick sinus syndrome Panel VIC

Brugada Syndrome Gene Panel Panel QLD

BUB1B single QLD

BUB1B single QLD

BUB1 single QLD

BTK single QLD

BTD single QLD

BRIP1 single QLD

BRCA2 single QLD

BRCA2 Panel VIC

BRCA1 & 2 Ashkenazi Founders Panel VIC

BRCA1 Panel VIC

BRCA1 single QLD

BRAF mutation analysis Single CHRISTCHURCH

BRAF single QLD

BRAF-HNPCC single VIC

BRAF Single QLD

BRAF Single VIC

BMPR1A single QLD

BMPR1A single QLD

BMP4 single QLD

BMP15 single QLD

BLM single QLD

BLK single QLD

BFSP2 single QLD

BFSP1 single QLD

BEST1 single QLD

BEST1 single QLD

BCR-ABL Single VIC

BCR-ABL1 mutation analysis single WA

BCR/ABL FISH Cytogenetic QLD

BCR-ABL Single QLD

bcr-abl gene rearrangement detection, qualitative Single NSW

bcr-abl gene rearrangement detection, quantitative p210 & p190 Single NSW

BCR-ABL single NSW

BCR/ABL1 (p210) qPCR Single CHRISTCHURCH

BCR/ABL1 Mutliplex RT-PCR Single CHRISTCHURCH

BCR/ABL1 (p190) RT-PCR Single CHRISTCHURCH

BCOR single QLD

BCL6 Cytogenetic QLD

BCL2 Single QLD

BCKDHB single QLD

BCKDHA single QLD

BBS9 single QLD

BBS9 single QLD

BBS7 single QLD

BBS7 single QLD

BBS5 single QLD

BBS5 single QLD

BBS4 single QLD

BBS4 single QLD

BBS2 single QLD

BBS2 single QLD

BBS12 single QLD

BBS12 single QLD

BBS10 single QLD

BBS10 single QLD

BBS1 single QLD

BBS1 single QLD

BARD1 single QLD

BAP1 single QLD

BAG3 single QLD

B3GLCT single QLD

BRCA1 & BRCA2 PLUS Panel Panel VIC

Breast, Ovarian, Prostate & Pancreas Panel Panel VIC

Breast and ovarian cancer panel Panel VIC

C

Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A)/Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) Test - Duplication/Deletion Analysis of PMP22 Gene single NSW

Charcot-Marie-Tooth type 1A single VIC

Charcot-Marie-Tooth disease, type 1A (CMT1A) Molecular ACT

Colorectal Panel Panel VIC

cKIT D816V Mutation Analysis single VIC

ccnd1-1/IgH translocation analysis Single NSW

Coeliac HLA DR/DQ testing Panel NSW

ctDNA EGFR single VIC

CYP51A1 single QLD

CYP4V2 single QLD

CYP2R1 single QLD

CYP2D6 Pharmacogenetics single NSW

CYP2C9 and VKORC1 (Warfarin) Pharmacogenetics Panel NSW

CYP2C19 Pharmacogenetics single NSW

CYP27B1 single QLD

CYP27A1 single QLD

CYP27A1 single QLD

CYP27A1 single QLD

CYP24A1 single QLD

CYP21A2 single QLD

CYP21A2 single QLD

CYP21A1P single QLD

CYP1B1 single QLD

CYP19A1 single QLD

CYP17A1 single QLD

CYP11B1 single QLD

CYP11A1 single QLD

CYLD single QLD

CYBB single NSW

CXCR4 single NSW

CXCR4 single NSW

CUL3 single QLD

CTNS single QLD

CTNNB1 single QLD

CTLA4 single QLD

CTHRC1 single QLD

CTDP1 single QLD

CTDP1 single QLD

CSF3R single NSW

CSF1R single QLD

CSAD single QLD

CRYM single QLD

CRYGS single QLD

CRYGD single QLD

CRYGC single QLD

CRYGB single QLD

CRYBB3 single QLD

CRYBB2 single QLD

CRYBB1 single QLD

CRYBA4 single QLD

CRYBA1 single QLD

CRYAB single QLD

CRYAA single QLD

CRX single QLD

CRX single QLD

CRIPT single QLD

CRHR1 single QLD

CRB1 single QLD

CRB1 single QLD

CRB1 single QLD

CORIN single QLD

COL9A1 single QLD

COL9A1 single QLD

COL8A2 single QLD

COL7A1 single QLD

COL5A2 single QLD

COL5A1 single QLD

COL4A5 single QLD

COL4A1 single QLD

COL3A1 single QLD

COL2A1 single QLD

COL2A1 single QLD

COL1A2 single QLD

COL1A1 single QLD

COL11A2 single QLD

COL11A2 single QLD

COL11A1 single QLD

COL11A1 single QLD

COCH single QLD

CNNM4 single QLD

CNNM2 single QLD

CNGB3 single QLD

CNGB1 single QLD

CNGB1 single QLD

CNGA3 single QLD

CNGA1 single QLD

CNBP single QLD

CLRN1 single QLD

CLPP single QLD

CLN3 single QLD

CLDN14 single QLD

CLCNKA single QLD

CLCN1 single QLD

CIB2 single QLD

CHST6 single QLD

CHRNE single QLD

CHRND single QLD

CHRNB1 single QLD

CHRNA1 single QLD

CHRDL1 single QLD

CHN1 single QLD

CHMP4B single QLD

CHM single QLD

CHM single QLD

CHEK2 single QLD

CHEK2 single QLD

CHD7 single QLD

CHD7 single QLD

CHD7 single QLD

CHAT single QLD

CFTR single QLD

CFTR Mutation Screen single QLD

Cystic Fibrosis single VIC

Cystic fibrosis single NSW

CETP single QLD

CERKL single QLD

CERKL single QLD

CEP57 single QLD

CEP290 single QLD

CEP290 single QLD

CEP164 single QLD

CENPE single QLD

CEL single QLD

CEBPA mutation analysis Single CHRISTCHURCH

CEBPA Mutation Analysis single VIC

CEACAM16 single QLD

CDT1 single QLD

CDKN2A single QLD

CDKN2A single QLD

CDKN1C screen for Beckwith Wiedemann syndrome Single VIC

CDKN1C screen for Image syndrome. Single VIC

CDKN1B single QLD

CDKN1B single QLD

CDK4 single QLD

CDHR1 single QLD

CDH3 single QLD

CDH23 single QLD

CDH23 single QLD

CDH23 single QLD

CDH1 single QLD

CDH1 single QLD

CDH1 single VIC

CDC73 single QLD

CDC73 single QLD

CDC6 single QLD

CCDC59 single QLD

CCDC50 single QLD

CCDC40 single QLD

CCDC39 single QLD

CC2D2A single QLD

CBX2 single QLD

CBL single QLD

CBFB-MYH11 single NSW

CBFB-MYH11 minimal residual disease single NSW

CAV3 single QLD

CATSPER2 single QLD

CATSPER1 single QLD

CASR single QLD

Calcium-sensing receptor (CASR) mutational analysis. single WA

Catecholaminergic polymorphic ventricular tachycardia Panel VIC

CASQ2 single QLD

CAPN5 single QLD

CAPN3 single QLD

CALR3 single QLD

Calreticulin mutation analysis Single CHRISTCHURCH

CALR Mutation screen single WA

CALR Panel NSW

CALRETICULIN Single VIC

CALR Mutation Analysis single VIC

CALR mutation single NSW

CACNB2 single QLD

CACNA2D4 single QLD

CACNA1S single QLD

CACNA1F single QLD

CACNA1D single QLD

CACNA1C single QLD

CACNA1A - Familial Hemiplegic Migraine Type 1, Episodic Ataxia, Spinocerebellar Ataxia Single QLD

CABP4 single QLD

CA4 single QLD

CA4 single QLD

C9orf72-Related Amyotrophic Lateral Sclerosis (ALS)/Frontotemporal Dementia (FTD) Test single NSW

C8orf4 single QLD

C8orf37 single QLD

C2orf71 single QLD

C21orf2 single QLD

C1QTNF5 single QLD

C12orf57 single QLD

Comprehensive metastatic Colorectal carcinoma Panel NSW

Comprehensive Melanoma Panel NSW

Comprehensive Non-small cell lung carcinoma Panel NSW

Chronic Lymphocytic Leukaemia FISH Cytogenetic QLD

Colorectal & Endometrial Panel Panel VIC

Colorectal & Polyps Panel VIC

Catecholaminergic Polymorphic Ventricular Tachycardia Gene Panel Panel QLD

Cardiac panel Panel VIC

Cardiomyopathy Panel VIC

Comprehensive Cardiomyopathy Gene Panel Panel QLD

Chimerism Analysis Panel VIC

Chimerism single NSW

Chromosome analysis (recurrent miscarriage, infertility, family history) Cytogenetic VIC

Chromosome breakage disorders Cytogenetic VIC

Clinical Exomes Panel VIC

Custom panels Panel VIC

Custom panels Panel VIC

Cri-du-Chat Syndrome Cytogenetic QLD

Chimerism study for bone marrow transplant monitoring Panel NSW

Charcot-Marie-Tooth Neuropathy (CMT) Test - NGS Panel Genomic NSW

Congenital Mysthenic Syndromes (CMS) Test- NGS Panel Genomic NSW

D

Dystonia 6 (Torsion Dystonia 6, THAP1 gene) Molecular ACT

Deafness or 12sRNA or MT-RNR1 single VIC

DiGeorge Syndrome Cytogenetic QLD

Delta Thalassaemia Single NSW

Dopa-Responsive Dystonia (GCH1 gene) Molecular ACT

Desmoplastic small round cell tumor Single VIC

DYSF single QLD

DYRK1B single QLD

DUOXA2 single QLD

DUOX2 single QLD

DUOX1 single QLD

DTHD1 single QLD

DSP single QLD

DSG2 single QLD

DSC2 single QLD

DPYD Pharmacogenetics single NSW

DPY19L2 single QLD

DOK7 single QLD

DNM2 single QLD

DNAI2 single QLD

DNAI1 single QLD

DNAH9 single QLD

DNAH5 single QLD

DNAH11 single QLD

DNA2 single QLD

DMRT2 single QLD

DMPK single QLD

DMD single QLD

DMD single QLD

Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, DMD-Related Dilated Cardiomyopathy Molecular ACT

Duchenne/Becker muscular dystrophy single VIC

DLD single QLD

DKC1 single QLD

DICER1 single QLD

DICER1 single QLD

DIAPH2 single QLD

DIAPH1 single QLD

DIABLO single QLD

DHH single QLD

DHDDS single QLD

DHCR7 single QLD

DFNA5 single QLD

DES single QLD

DDX11 single QLD

DDR2 single QLD

DDB2 single QLD

DCX single QLD

DCX-Related Lissencephaly and Subcortical Band Heterotopia Molecular ACT

DCN single QLD

DCLRE1C single NSW

DBT single QLD

Disorders of Sex Development 46,XX Gene Panel Panel QLD

Dentatorubral Pollidoluysian Atrophy single VIC

Dentatorubral-Pallidoluysian Atrophy (DRPLA) Test single NSW

Disorders of Sex Development 46,XY Gene Panel Panel QLD

Dyslipidaemia Gene Panel Panel QLD

Dilated Cardiomyopathy panel Panel VIC

Dilated Cardiomyopathy Gene Panel Panel QLD

E

EVI1 Cytogenetic QLD

EZH2 single QLD

EYS single QLD

EYS single QLD

EYA4 single QLD

EYA1 single QLD

EXT2 single QLD

EXT1 single QLD

EXT1 single QLD

Ewings sarcoma Single VIC

Ewings Sarcoma Cytogenetic QLD

ETV6 Cytogenetic QLD

ESRRB single QLD

ESR1 single QLD

ESPN single QLD

ERCC5 single QLD

ERCC4 single QLD

ERCC3 single QLD

ERCC2 single QLD

ERC1 single QLD

ERBB4 single QLD

ERBB2 single QLD

EPOR mutation single NSW

EPO single QLD

EPHA2 single QLD

EPCAM single QLD

ENO1 single QLD

ENG single QLD

EMD single QLD

EMC1 single QLD

ELP1 single QLD

ELOVL4 single QLD

ELN single QLD

ELANE single NSW

ELAC2 single QLD

EGFR single QLD

EGFR mutation analysis Single CHRISTCHURCH

EGFR single QLD

EGFR Single VIC

EGFR Single QLD

EGFR single VIC

EFEMP1 single QLD

Endodemetrial cancer panel Panel VIC

Expanded colorectal panel Panel VIC

Endocrine Panel Panel VIC

F

Familial Hypercholesterolaemia (FH) (PCSK9) Single NSW

Familial Hypercholesterolaemia (FH) (Deletional defects) Single NSW

Fabry Disease (GLA gene) Molecular ACT

Familial Atrial fibrillation Panel VIC

FZD4 single QLD

FYCO1 single QLD

FXN single QLD

Friedreich Ataxia (FRDA)Test single NSW

Friedreich Ataxia single VIC

FUS-Related Amyotrophic Lateral Sclerosis (ALS)Test - Sequencing Analysis of FUS Gene single NSW

FUS Cytogenetic QLD

FTO single QLD

FSHR single QLD

FSHB single QLD

FSCN2 single QLD

FSCN2 single QLD

FRMD7 single QLD

FRMD7 single QLD

FRG1 single QLD

FOXP3 single NSW

FOXL2 single QLD

FOXL2 single QLD

FOXG1 single QLD

FOXE3 single QLD

FOXE1 single QLD

FOXC1 single QLD

Fragile X Single QLD

FMR1 single QLD

Fragile X Syndrome (FX) Molecular ACT

Fragile X syndrome single VIC

Fragile X testing single NSW

FMO3 single QLD

FLVCR1 single QLD

FLT3 Single QLD

FLT3 Single NSW

FLT3 ITD mutation screen single WA

FLT3 single QLD

FLT3 Internal Tandem Duplication (ITD) PCR Single CHRISTCHURCH

FLT3 Tyrosine Kinase Domain mutation analysis Single CHRISTCHURCH

FLT3 ITD single NSW

FLT3-ITD Mutation Analysis single VIC

FLCN single QLD

FIP1L1-PDGFRA single NSW

FIP1L1/CHIC2/PDGFRA Cytogenetic QLD

FIGLA single QLD

FH single QLD

FGFR3 single QLD

FGFR3 single QLD

FGFR3 Related Disorders Molecular ACT

FGFR2 single QLD

FGFR1 single QLD

FGFR1 single QLD

FGFR1 Cytogenetic QLD

FGFR1 single QLD

FGF9 single QLD

FGF8 single QLD

FGD2 single QLD

FCRL3 single QLD

FBXO7 single QLD

FBN1 single QLD

FAS single NSW

FANCM single QLD

FANCL single QLD

FANCI single QLD

FANCG single QLD

FANCG single QLD

FANCF single QLD

FANCF single QLD

FANCE single QLD

FANCD2 single QLD

FANCC single QLD

FANCC single QLD

FANCB single QLD

FANCA single QLD

FANCA single QLD

FAM161A single QLD

F9 single QLD

F8 single QLD

Factor V Leiden Single NSW

FVL single NSW

Factor V Leiden single NSW

FVL and PTH Single QLD

Factor XII single NSW

Facioscapulohumeral Muscular Dystrophy 1 (FSHD1) Level 1 Test single NSW

Facioscapulohumeral Muscular Dystrophy 1 (FSHD1) Level 2 Test single NSW

Familial Hypercholesterolaemia (FH) (Non-deletional defects) Panel NSW

FAP panel Panel VIC

Familial Adenomatous Polyposis (FAP, APC gene) Molecular ACT

Familial One Panel Panel VIC

Familial hypercholesterolaemia genetic screen Panel WA

Familial Atrial Fibrillation Gene Panel Panel QLD

Familial Hyperinsulinism Gene Panel Panel QLD

G

Gilbert syndrome/irinotecan toxicity single NSW

Genetic Test for Multiple Endocrine Neoplasia Type I (MEN1) single QLD

GIST Panel Panel VIC

Genetic Test for Haemochromatosis SNP QLD

GUCY2D single QLD

GUCY2D single QLD

GUCY2C single QLD

GUCA1B single QLD

GUCA1A single QLD

GRXCR1 single QLD

GRM6 single QLD

GRK1 single QLD

GRHL2 single QLD

GPSM2 single QLD

GPR179 single QLD

GPR143 single QLD

GPR143 single QLD

GPD1L single QLD

GPD1 single QLD

GPC3 single QLD

GPC3 single QLD

GOLGA5 single QLD

GNRHR single QLD

GNRH1 single QLD

GNPTG single QLD

GNPTAB single QLD

GNE single QLD

GNB3 single QLD

GNAT3 single QLD

GNAT2 single QLD

GNAT1 single QLD

GNAS-AS1 single QLD

GNAS single QLD

GNAS single QLD

GNAS Related Disorders Molecular ACT

GNAQ single QLD

GNA11 single QLD

GLUD1 single QLD

GLIS3 single QLD

GLI2 single QLD

GLDC single QLD

GLA single QLD

GJB6 single QLD

GJB6 single QLD

GJB3 single QLD

GJB3 single QLD

GJB2 single QLD

GJB2 single QLD

GJB1-Related X-linkedCharcot-Marie-Tooth Neuropathy (CMT) Test - Sequencing Analysis of GJB1 Gene single NSW

GJA8 single QLD

GJA3 single QLD

GIPC3 single QLD

GHSR single QLD

GHRHR single QLD

GHRH single QLD

GHR single QLD

GH1 single QLD

GDF6 single QLD

GDF5 single QLD

GDF3 single QLD

GCSH single QLD

GCNT2 single QLD

GCM2 single QLD

GCK single QLD

GBE1 single QLD

GBA single QLD

GATA6 single QLD

GATA4 single QLD

GATA3 single QLD

GALT single QLD

GALT single QLD

Galactosemia (GALT gene) Molecular ACT

GALK1 single QLD

GAA single QLD

G6PC single QLD

Genetic Test for Cystic Fibrosis single QLD

Genetic Test for Calcium Sensing Receptor (CASR) single QLD

Genetic Test for Apolipoprotein E SNP QLD

Genetic Test for Medium Chain Acyl Coenzyme A Dehydrogenase (MCAD) single QLD

H

Hereditary Spastic Paraplegia (SPG) Test - Duplication/Deletion and Sequencing Analysis of SPG7 Gene single NSW

Hereditary Neuropathy with Liability to Pressure Palsy HNPP single VIC

Hereditary Paraganglioma-Phaeochromocytoma Syndrome (MAX, SDHA, SDHB, SDHC, SDHD, TMEM127 and VHL ge Panel ACT

HYMAI single QLD

Huntington Disease Single NSW

Huntington dystrophy single VIC

Huntington Disease Molecular ACT

HSF4 single QLD

HSD3B2 single QLD

HSD17B3 single QLD

HSD17B10 single QLD

HSD11B2 single QLD

HSD11B1 single QLD

HS6ST1 single QLD

HRAS single QLD

HRAS single QLD

HR single QLD

HPRT1 single QLD

HOXB13 single QLD

HOXA1 single QLD

HNF4A single QLD

HNF1B single QLD

HNF1A single QLD

HNF1A single QLD

HNF1A single QLD

HMX1 single QLD

HMGA2 single QLD

HMCN1 single QLD

HMBS single QLD

Holocarboxylase Synthetase Mutation Analysis (HLCS) Molecular ACT

HLA-DRB5 single SA

HLA-DRB4 single SA

HLA-DRB3 single SA

HLA-DRB1 single SA

HLA-DQB1 single SA

HLA-DQA1 single SA

HLA-DPB1 single SA

HLA-DPA1 single SA

HLA-C single SA

HLA-B single SA

HLA B27 Single QLD

HLA-B*27 single NSW

HLA-B*57:01 single NSW

HLA-B*15:02 single NSW

HLA-B*58:01 single NSW

HLA-B*5/*51 single NSW

HLA-A single SA

HIBCH single QLD

HGF single QLD

HFE single QLD

Hereditary Haemochromatosis Single NSW

HFE single QLD

Haemochromatosis genetic testing SNP VIC

HFE Single NSW

HFE Single QLD

Haemochromatosis Gene single NSW

HEXA single QLD

HESX1 single QLD

HDAC8 single QLD

HDAC8 single QLD

HCN4 single QLD

HCCS single QLD

HBB single QLD

HBA2 single QLD

HARS2 single QLD

HARS single QLD

HADH single QLD

H6PD single QLD

H3F3A Single NSW

Hemihyperplasia Panel VIC

Hereditary Hearing Loss single VIC

Haemophilia B genetic testing Single VIC

Haemophilia A genetic testing Single VIC

Hereditary Diffuse Gastric Cancer (HDGC; E-cadherin; CDH1 gene) Molecular ACT

High risk breast cancer panel pane VIC

Hereditary Breast/Ovarian Cancer BRCA1 and BRCA2 Mutation Screen Panel ACT

Hereditary Spastic Paraplegias (SPG) Test - Duplication/Deletion and Sequencing Analysis of SPAST, ATL1 and REEP1 Genes Panel NSW

Hypertriglyceridaemia genetic screen Panel WA

Hereditary Fructose Intolerance (HFI) Single NSW

Hypertrophic Cardiomyopathy Gene Panel Panel QLD

Hypertrophic Cardiomyopathy panel Panel VIC

Hereditary Spastic Paraplegias (HSP) Test - NGS Panel Genomic NSW

Hereditary Ataxias Test - NGS Panel Genomic NSW

Hereditary Dystonias Test - NGS Panel Genomic NSW

I

INADS single VIC

IYD single QLD

ITGB4 single QLD

IRS2 single QLD

IRS1 single QLD

IRAK4 single NSW

IQSEC2 single QLD

IQCB1 single QLD

INVS single QLD

INSR single QLD

INSL3 single QLD

INS single QLD

INPP5E single QLD

INF2-Realted Dominant Intermediate Charcot-Marie-Tooth Neuropathy (CMT) with Focal Segmental Glomerulosclerosis Test - Sequencing Analysis of INF2 Gene single NSW

IMPG2 single QLD

IMPDH1 single QLD

IMPDH1 single QLD

ILDR1 single QLD

IL7R single NSW

IL2RG single QLD

IL2RA single QLD

IL-12 Beta single NSW

IKAROS Single VIC

IGSF1 single QLD

IGH/MYC FISH Cytogenetic QLD

IGH/CCND1 FISH Cytogenetic QLD

IGH/BCL2 FISH Cytogenetic QLD

IGH Single QLD

IGH Variable Region Mutational Status Single NSW

IGH Gene rearrangement testing Panel NSW

IGH Gene Rearrangement single VIC

IGHV Mutation Analysis single VIC

IGH gene rearrangement PCR Single CHRISTCHURCH

IGFBP7 single QLD

IGF1R single QLD

IGF1 single QLD

IGBP1 single QLD

IFT140 single QLD

IFNGR2 single NSW

IFNGR1 single NSW

IDUA single QLD

IDS single QLD

IDH3B single QLD

IDH2 single QLD

IDH2 Single NSW

IDH mutation single NSW

IDH1 and IDH2 mutation screen single WA

IDH1 (R132) and IDH2 (R172) Panel VIC

IDH1 single QLD

IDH1 Single NSW

ICK single QLD

Inv16/t(16;16) CBFB-MYH11 Quantitative Analysis single VIC

inv(16) FISH Cytogenetic QLD

Inherited cancer panel Panel VIC

Interphase FISH analysis Cytogenetic VIC

Interphase FISH Test (postnatal) Cytogenetic VIC

J

JUP single QLD

JAK3 single QLD

JAK2 single QLD

Janus Kinase 2 (JAK2) PCR Single CHRISTCHURCH

JAK2 exon 12 mutation analysis Single CHRISTCHURCH

JAK2 V617F Single VIC

JAK2 exon 12 Single VIC

JAK2 Single NSW

JAK2 V617F mutation detection single WA

JAK2 exon 12 mutation screen single WA

JAK2 Single QLD

JAK2 V617F mutation single NSW

JAK2 exon 12 mutation single NSW

JAK2 V617F Mutation Analysis single VIC

JAK2 (Janus Kinase 2) single NSW

JAG1 single QLD

JAG1 single QLD

K

KRT5 single QLD

KRT3 single QLD

KRT14 single QLD

KRT12 single QLD

KRAS single QLD

KRAS single QLD

KRAS Single VIC

KRAS single VIC

KLLN single QLD

KLHL7 single QLD

KLHL7 single QLD

KLHL3 single QLD

KLHL10 single QLD

KLF11 single QLD

KIT single QLD

KIT single QLD

KIT single VIC

KISS1R single QLD

KISS1 single QLD

KIF21A single QLD

KIF11 single QLD

KIAA1549 single QLD

KHDC3L single QLD

KERA single QLD

KDR single QLD

KDR single QLD

KCNV2 single QLD

KCNQ4 single QLD

KCNQ4 single QLD

KCNQ1 single QLD

KCNJ2 single QLD

KCNJ18 single QLD

KCNJ13 single QLD

KCNJ11 single QLD

KCNH2 single QLD

KCNE3 single QLD

KCNE2 single QLD

KCNE1 single QLD

KSS/CPEO or Mitochondrial DNA deletions Genomic VIC

KIAA1549-BRAF Single VIC

L

LHON 14484, ND6 or MT-ND6 single VIC

LHON 11778, ND4 or MT-ND4 single VIC

Leber''s Hereditary Optic Neuropathy, LHON 3460, 11778, 14484 SNP VIC

LHON 3460, ND1 or MT-ND1 single VIC

Lynch panel Panel VIC

LZTFL1 single QLD

LTBP2 single QLD

LRTOMT single QLD

LRRK2-Related Parkinson Disease Test single NSW

LRRK2 single QLD

LRP5 single QLD

LRP5 single QLD

LRP4 single QLD

LRP2 single QLD

LRIT3 single QLD

LRAT single QLD

LRAT single QLD

LPA single QLD

LOXHD1 single QLD

LMNA single QLD

LMNA single QLD

Laminopathies single VIC

LIPE single QLD

LIPC single QLD

LIPA single QLD

LIM2 single QLD

LIG4 single QLD

LIG4 single NSW

LIF single QLD

LHX4 single QLD

LHX3 single QLD

LHFPL5 single QLD

LHCGR single QLD

LHB single QLD

LEPR single QLD

LEP single QLD

LDLR single QLD

LDB3 single QLD

LCA5 single QLD

LARS2 single QLD

LARP7 single QLD

LAMP2 single QLD

LAMB3 single QLD

L1CAM single QLD

Long QT Syndrome (LQT) (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2 and KCNJ2 genes) Panel ACT

Lung Panel Panel VIC

Lymphoid NGS panel Panel VIC

LongQT single VIC

Left Ventricular Non-compaction Cardiomyopathy Panel VIC

M

Myoclonus Dystonia (SGCE gene) Molecular ACT

Multiple Endocrine Neoplasia Type 2 (MEN2, RET Proto-oncogene) Molecular ACT

Miller-Dieker / Lissencephaly Syndrome Cytogenetic QLD

MYOZ2 single QLD

MYOC single QLD

MYO7A single QLD

MYO7A single QLD

MYO7A single QLD

MYO6 single QLD

MYO3A single QLD

MYO1A single QLD

MYO15A single QLD

MYLK single QLD

MYL3 single QLD

MYL2 single QLD

MYH9 single QLD

MYH9 single QLD

MYH8 single QLD

MYH7 single QLD

MYH6 single QLD

MYH14 single QLD

MYH11 single QLD

MYD88 single NSW

MYD88 single NSW

MYBPC3 single QLD

MVK single NSW

MVK single NSW

MUTYH single QLD

MUT single QLD

MTTP single QLD

MELAS, tRNA Leucine (UUR) or MT-TL1 single VIC

MERRF m.8344A>G, tRNA Lysine or MT-TK single VIC

MELAS/LS m.13513G>A , NADH dehydrogenase 5 or MT-ND5 single VIC

MTM1 single QLD

MTHFR Single QLD

MTHFR Single NSW

MTHFR single NSW

MTAP single QLD

MSRB3 single QLD

MSR1 single QLD

MSMO1 single QLD

MSH6 single QLD

MSH6 single VIC

MSH2 single VIC

MSH2 single QLD

MSH2 single QLD

MRE11 single QLD

MRE11 single QLD

MRAP single QLD

MRAP single QLD

MPZL2 single QLD

MPZ-Related Charcot-Marie-Tooth Neuropathy (CMT) Test - Sequencing Analysis of MPZ Gene single NSW

MPZ single QLD

MPL single QLD

MPL W515L/K mutation detection single WA

MNX1 single QLD

MMACHC single QLD

MMAB single QLD

MMAA single QLD

MLH3 single QLD

MLH1 single QLD

MLH1 single QLD

MLH1 single QLD

MLH1 single VIC

MLH1 Methylation single VIC

MKS1 single QLD

MKKS single QLD

MKKS single QLD

MITF single QLD

MITF single QLD

MIR184 single QLD

MIP single QLD

MINPP1 single QLD

MGMT Methylation single VIC

MGMT methylation Single VIC

MGMT Single NSW

MFSD6L single QLD

MFRP single QLD

MFN2 single QLD

MFN2-Related Charcot-Marie-Tooth Neuropathy (CMT) Test - Sequencing Analysis of MFN2 Gene single NSW

MFN2 single QLD

MET single QLD

MET single QLD

MERTK single QLD

MERTK single QLD

MEN1 single QLD

MEN1 single QLD

MEN1 single QLD

MEFV sequencing (Familial Mediterranean Fever) single NSW

MED17 single QLD

MED12 single QLD

MECP2 single QLD

MECP2 single QLD

MC4R single QLD

MC4R single QLD

MC2R single QLD

MC2R single QLD

MC1R single QLD

MBD5 single QLD

MAX single QLD

MAX single QLD

MARVELD2 single QLD

MAPT single QLD

MAP3K1 single QLD

MAP2K1 single QLD

MAMLD1 single QLD

MAK single QLD

MAGED1 single QLD

MAF single QLD

Metastatic Colorectal carcinoma Single NSW

MODY (HNF4a, GCK, HNF1a, HNF1b) Panel ACT

Mismatch Repair Panel Panel VIC

Myotonic Dystrophy Molecular ACT

Myotonic Dystrophy Type 1 (DM1)Test single NSW

Myotonic Dystrophy Type 2 (DM2) Test single NSW

Multiple Myeloma FISH Cytogenetic QLD

Melanoma Panel Panel VIC

Melanoma Single NSW

Migrainous Disorders Next Generation Sequencing Panel (CADASIL, FHM1, FHM2, FHM3, EA2, SCA6) Panel QLD

Myeloproliferative diagnostic panel Panel VIC

Myeloid NGS panel Panel VIC

MLL FISH Cytogenetic QLD

Maturity Onset Diabetes of the Young (MODY) Gene Panel Panel QLD

Microsatellite Instability (MSI) Panel VIC

Microarray (paediatric) Microarray VIC

Microarray and chromosome analysis Microarray VIC

Microdeletion/microduplication FISH Cytogenetic VIC

N

NYX single QLD

NTRK2 single QLD

NTRK1 single QLD

NTRK1 single QLD

NTF4 single QLD

NSMF single QLD

NSD1 single QLD

NRL single QLD

NRGN single QLD

NRAS single QLD

NRAS single QLD

NRAS single QLD

NRAS Single VIC

NRAS single VIC

NR5A1 single QLD

NR3C2 single QLD

NR3C1 single QLD

NR2E3 single QLD

NR2E3 single QLD

NR0B2 single QLD

NR0B1 single QLD

NPM-ALK fusion Single VIC

NPM1 Single NSW

Nucleophosmin mutation screen single WA

NPM1 Single QLD

NPM1 mutation single NSW

NPM1 minimal residual disease single NSW

NPM1 MRD single VIC

Nucleophosmin (NPM1) PCR Single CHRISTCHURCH

NPM1 single QLD

NPHP4 single QLD

NPHP3 single QLD

NPHP3 single QLD

NPHP1 single QLD

NPC2 single QLD

NPC1 single QLD

NPC1 single QLD

NOTCH3 - CADASIL Single QLD

NOTCH1 single QLD

NOBOX single QLD

NNT single QLD

NMNAT1 single QLD

NME8 single QLD

NLRP7 single QLD

NLRP3 single QLD

NKX2-5 single QLD

NKX2-5 single QLD

NKX2-1 single QLD

NIPBL single QLD

NHS single QLD

NFKBIA single NSW

NF2 single QLD

NF2 single QLD

NF1 single QLD

NF1 single QLD

NEUROD1 single QLD

NDP single QLD

NDN single QLD

NDEL1 single QLD

NCOA4 single QLD

NBN single QLD

NBAS single QLD

NANOS3 single QLD

NANOS1 single QLD

NARP/LS m.8993T>C/G, ATPase 6 or MT-ATP6 single VIC

Narcolepsy HLA DR/DQ testing Panel NSW

Non-ketotic Hyperglycinaemia (Glycine encephalopathy) (NKH, GLDC gene) Molecular ACT

Non-small cell lung carcinoma Single NSW

Noonan Syndrome Gene Panel Panel QLD

Non-compaction Cardiomyopathy Gene Panel Panel QLD

O

Oculopharyngeal Muscular Dystrophy (OPMD) Test single NSW

OTX2 single QLD

OTX2 single QLD

OTOF single QLD

OTOA single QLD

OTC single QLD

OTC single QLD

ORC6 single QLD

ORC4 single QLD

ORC1 single QLD

OPTN single QLD

OPN1SW single QLD

OPN1MW single QLD

OPN1LW single QLD

OPA3 single QLD

OPA1 single QLD

OFD1 single QLD

OCRL single QLD

OCRL single QLD

OCA2 single QLD

OAT single QLD

Osteogenesis Imperfecta (FKBP10 gene related) Molecular ACT

Ovarian & Colorectal Panel Panel VIC

Oligodendroglioma (1p36 and 19q13) Cytogenetic QLD

P

Prader Willi syndrome Panel VIC

Prader-Willi/Angelman Syndrome Cytogenetic QLD

Prader-Willi Syndrome (PWS) Molecular ACT

PYY single QLD

PTPRQ single QLD

PTPN11 single QLD

PTPN11 single QLD

PTPN11 single QLD

PTH single QLD

PTGIS single QLD

PTF1A single QLD

PTEN single QLD

PTEN single QLD

PTEN Hamartoma Tumor Syndrome Molecular ACT

PTEN Panel VIC

PTCH2 single QLD

PTCH1 single QLD

PTCH1 single QLD

PSMC3IP single QLD

PSEN2 single QLD

PSEN1 single QLD

PRSS56 single QLD

PRSS1 single QLD

PRPS1 single QLD

PRPH2 single QLD

PRPH2 single QLD

PRPF8 single QLD

PRPF8 single QLD

PRPF6 single QLD

PRPF31 single QLD

PRPF31 single QLD

PRPF3 single QLD

PROP1 single QLD

PROM1 single QLD

PROM1 single QLD

PROKR2 single QLD

PROK2 single QLD

PRKX single QLD

PRKAR1A single QLD

PRKAR1A single QLD

PRKAG2 single QLD

PRF1 single QLD

PRF1 single NSW

PRDM5 single QLD

PRCD single QLD

PRCD single QLD

PPT1 single QLD

PPP1R3A single QLD

PPM1D single QLD

PPIL2 single QLD

PPARGC1A single QLD

PPARG single QLD

PPARD single QLD

POU4F3 single QLD

POU3F4 single QLD

POU1F1 single QLD

PORCN single QLD

POR single QLD

POMT1 single QLD

POMC single QLD

POLR3B single QLD

POLR3A single QLD

POLH single QLD

POLG2 single QLD

POLG single QLD

POLG single QLD

POLE single QLD

POLD1 single QLD

POLD1 single QLD

POF1B single QLD

POC1A single QLD

PMS2 single QLD

PMS2 single VIC

PMP22-Related Charcot-Marie-Tooth Neuropathy (CMT) Test - Sequencing Analysis of PMP22 Gene single NSW

PMP22 single QLD

PMM2 single QLD

PML/RARA RT-PCR Single CHRISTCHURCH

PML-RARA single NSW

PML/RARA FISH Cytogenetic QLD

PLOD3 single QLD

PLOD1 single QLD

PLN single QLD

PLK4 single QLD

PLIN1 single QLD

PLEC single QLD

PLAGL1 single QLD

PLA2G5 single QLD

PKP2 single QLD

PKHD1 single QLD

PKD2 single QLD

PKD1 single QLD

PJVK single QLD

PITX3 single QLD

PITX2 single QLD

PITPNM3 single QLD

PINK1 single QLD

PIKFYVE single QLD

PIK3CD single NSW

PIK3CA single QLD

PIK3CA single QLD

PIGV single QLD

PHYH single QLD

PHOX2B single QLD

PHOX2A single QLD

PHGDH single QLD

PGK1 single QLD

PEX7 single QLD

PEX5 single QLD

PEX3 single QLD

PEX26 single QLD

PEX2 single QLD

PEX19 single QLD

PEX14 single QLD

PEX13 single QLD

PEX10 single QLD

PEX1 single QLD

PEX1 single QLD

PDZD7 single QLD

PDX1 single QLD

PDGFRB single QLD

PDGFRA single QLD

PDGFRA single VIC

PDE8B single QLD

PDE6H single QLD

PDE6G single QLD

PDE6C single QLD

PDE6B single QLD

PDE6A single QLD

PDE11A single QLD

PCSK1 single QLD

PCDH15 single QLD

PCDH15 single QLD

PCDH15 single QLD

PAX8 single QLD

PAX6 single QLD

PAX6 single QLD

PAX6 single QLD

PAX4 single QLD

PAX-FOXO1 Single VIC

PAX3 single QLD

PAX2 single QLD

PANK2 single QLD

PANK2 single QLD

PALLD single QLD

PALB2 single QLD

PALB2 single VIC

PAH single QLD

PAFAH1B1 single QLD

PABPN1 single QLD

P3H2 single QLD

Prenatal Thalassaemia genetic testing Panel VIC

Prenatal Haemophilia B testing Single VIC

Prenatal Haemophilia A genetic testing Single VIC

Prothrombin Gene Mutation and Factor V Leiden Mutation SNP WA

Prothrombin variant Single NSW

Prothrombin mutation single NSW

Prothrombin gene mutation single NSW

Paraganglioma & Pheochromocytoma Panel Panel VIC

Porphyria (Non-deletional defects) Panel NSW

Porphyria (Deletional defects) Panel NSW

Polyps Panel Panel VIC

Permanent Neonatal Diabetes Gene Panel Panel QLD

Predictive Testing single VIC

Prenatal Aneuploidy screen Cytogenetic QLD

Q

R

RYR2 single QLD

RYR1 single QLD

RYR1 single QLD

RXFP2 single QLD

RUNX1 single QLD

RSPO1 single QLD

RSPH9 single QLD

RSPH4A single QLD

RS1 single QLD

RS1 single QLD

RRM2B single QLD

RPS7 single QLD

RPS6KA3 single QLD

RPS26 single QLD

RPS24 single QLD

RPS19 single QLD

RPS10 single QLD

RPL35A single QLD

RPL11 single QLD

RPGRIP1L single QLD

RPGRIP1 single QLD

RPGRIP1 single QLD

RPGR single QLD

RPGR single QLD

RPE65 single QLD

RPE65 single QLD

RP9 single QLD

RP9 single QLD

RP2 single QLD

RP1L1 single QLD

RP1 single QLD

ROR2 single QLD

ROM1 single QLD

ROBO3 single QLD

ROBO2 single QLD

ROBO1 single QLD

RNLS single QLD

RNF168 single QLD

RNF139 single QLD

RNASEL single QLD

RLBP1 single QLD

RIMS1 single QLD

RHO single QLD

RHO single QLD

RHBDF2 single QLD

RGS9BP single QLD

RGS9 single QLD

RGR single QLD

RFX6 single QLD

RET single QLD

RET single QLD

RET single QLD

RET single QLD

RECQL4 single QLD

RDX single QLD

RDH5 single QLD

RDH12 single QLD

RDH12 single QLD

RD3 single QLD

RBP4 single QLD

RBP3 single QLD

RBBP8 single QLD

RB1 single QLD

RB1 single QLD

RB1 single QLD

RB1 single QLD

RAX2 single QLD

RAX single QLD

RAPSN single QLD

RAI1 single QLD

RAG2 single QLD

RAG2 single NSW

RAG1 single QLD

RAG1 single NSW

RAF1 single QLD

RAD51D single QLD

RAD51C single QLD

RAD50 single QLD

RAB3GAP2 single QLD

RAB3GAP2 single QLD

RAB3GAP1 single QLD

RAB18 single QLD

Rhabdomyolysis, COX I, II, III or MT-CO1, MT-COII, MT-COIII single VIC

Rett Syndrome (MeCP2 gene) Molecular ACT

Russell Silver syndrome. Panel VIC

Renal Panel Panel VIC

RASopathy Syndromes Gene Panel Panel QLD

S

Spinocerebellar Ataxia Type 17 Test single NSW

SYCP3 single QLD

SUFU single QLD

STX16 single QLD

STX11 single NSW

STS single QLD

STRC single QLD

STRC single QLD

STRA6 single QLD

STK11 single QLD

STK11 single QLD

STAT5B single QLD

STARD3 single QLD

STAR single QLD

SSTR5 single QLD

Synovial Sarcoma Cytogenetic QLD

SYT (SS18) Cytogenetic QLD

SRY single QLD

SRD5A2 single QLD

SRD5A single QLD

SRC single QLD

SQSTM1 mutational analysis. single WA

SPTLC2-Related Hereditary Sensory and Autonomous Neuropathy Type IC (HSAN IC) Test - Sequencing Analysis of SPTLC2 Gene single NSW

SPTLC1-Related Hereditary Sensory Neuropathy Type IA (HSAN IA) Test - Sequencing Analysis of SPTLC1 Gene single NSW

SPRED1 single QLD

SPINK1 single QLD

SPG7 single QLD

SPATA7 single QLD

SPATA7 single QLD

SPATA16 single QLD

SOX9 single QLD

SOX9 single QLD

SOX3 single QLD

SOX2 single QLD

SOS1 single QLD

SOD2 single QLD

SOD1-Related Amyotrophic Lateral Sclerosis (ALS) Test - Sequencing Analysis of SOD1 Gene single NSW

SOD1 single QLD

SNTA1 single QLD

SNRPN single QLD

SNRNP200 single QLD

SNRNP200 single QLD

SNCA single QLD

SNCA-Realated Parkinson Disease Test single NSW

SMPX single QLD

SMPD1 single QLD

SMOC1 single QLD

SMN1 Panel NSW

Spinal Muscular Atrophy (SMA) Molecular ACT

SMARCE1 single QLD

SMARCB1 single QLD

SMARCB1 single QLD

SMARCB1 Single VIC

SMAD4 single QLD

SMAD4 single QLD

SMAD4 single QLD

SMAD3 single QLD

SLX4 single QLD

SLCO1C1 single QLD

SLC6A2 single QLD

SLC6A14 single QLD

SLC5A5 single QLD

SLC4A11 single QLD

SLC39A4 (ZIP4) single NSW

SLC27A4 single QLD

SLC27A1 single QLD

SLC26A5 single QLD

SLC26A4 single QLD

SLC26A4 single QLD

SLC26A4 single QLD

SLC25A4 single QLD

SLC25A4 single QLD

SLC25A13 single QLD

SLC24A1 single QLD

SLC17A8 single QLD

SLC16A12 single QLD

SLC12A1 single QLD

SIX6 single QLD

SIX5 single QLD

SIX1 single QLD

SIM1 single QLD

SIL1 single QLD

SHOX single QLD

SHOX single QLD

SH3BP2 single QLD

SH2D1A single NSW

SH2D1A single QLD

SH2B3 single QLD

SGCD single QLD

SF1 single QLD

SETX single QLD

SETBP1 single QLD

SERPING1 single QLD

SERPING1 sequencing (C1 Esterase Gene Testing) single NSW

SERPINB6 single QLD

SERPINA7 single QLD

SERPINA6 single QLD

SERPINA1 single QLD

SEMA4A single QLD

SEMA4A single QLD

SECISBP2 single QLD

SDHD single QLD

SDHC single QLD

SDHB/D single VIC

SDHB single QLD

SDHAF2 single QLD

SDHA single QLD

SDCCAG8 single QLD

SCN9A single QLD

SCN5A single QLD

SCN4B single QLD

SCN3B single QLD

SCN1B single QLD

SCN1A Familial Hemiplegic Migraine Type 3 Single QLD

SCAMP5 single QLD

SBDS single QLD

SAR1B single QLD

SAMD9 single QLD

SALL4 single QLD

SAG single QLD

Smith-Magenis Syndrome Cytogenetic QLD

Spinocerebellar Ataxia Type 12 Test single NSW

Smith-Lemli-Opitz Syndrome (SLOS, DHCR7 gene) Molecular ACT

Spinocerebellar Ataxia Type 6 Test single NSW

Skin Panel Panel VIC

Spinocerebellar Ataxia Type 7 Test single NSW

Spinocerebellar Ataxia Type 3 Test single NSW

Spinocerebellar Ataxia Type 2 Test single NSW

Spinocerebellar Ataxias (SCA) Panel Test Panel NSW

Spinocerebellar Ataxia Type 1 Test single NSW

Spinal and Bulbar Muscular Atrophy (SBMA) or Kennedy''s DiseaseTest single NSW

Sarcoma Panel Panel VIC

Spectrum One Panel Panel VIC

SNP Microarray Cytogenetic QLD

T

TYR single QLD

TWNK single QLD

TWIST1 single QLD

TULP1 single QLD

TULP1 single QLD

TUBGCP6 single QLD

TUBB3 single QLD

TTR single QLD

TTPA single QLD

TTPA single QLD

TTC8 single QLD

TSPAN12 single QLD

TSHR single QLD

TSHB single QLD

TSC2 single QLD

TSC2 single QLD

TSC1 single QLD

TSC1 single QLD

TRPM6 single QLD

TRPM1 single QLD

TRIOBP single QLD

TRIM33 single QLD

TRIM32 single QLD

TRIM27 single QLD

TRIM24 single QLD

TRHR single QLD

TRH single QLD

TCR Gene rearrangement testing Panel NSW

TRG Gene Rearrangement single VIC

T-cell receptor gamma (TRG) gene rearrangement PCR Single CHRISTCHURCH

TREX1 single QLD

T cell gene rearrangement Single QLD

TPRN single QLD

TPR single QLD

TPO single QLD

Thiopurine Methyltransferase (TPMT) genotyping Single NSW

TPMT (thiopurine methyltransferase) single NSW

TPM1 single QLD

TP53 Panel VIC

TP53 single QLD

TP53 single QLD

TP53 single QLD

TP53 single QLD

TOPORS single QLD

TOPORS single QLD

TNXB single QLD

TNNT2 single QLD

TNNT1 single QLD

TNNI3 single QLD

TNNC1 single QLD

TNFRSF1A sequencing (Familial Hibernian Fever) single NSW

TMPRSS3 single QLD

TMIE single QLD

TMEM43 single QLD

TMEM237 single QLD

TMEM127 single QLD

TMEM127 single QLD

TMEM126A single QLD

TMC1 single QLD

TJP2 single QLD

TIMP3 single QLD

TIMP1 single QLD

TIMM8A single QLD

THRB single QLD

THRA single QLD

TGFBR2 single QLD

TGFBR1 single QLD

TGFBR1 single QLD

TGFBI single QLD

TG single QLD

TERT single QLD

TENM3 single QLD

TECTA single QLD

TEAD1 single QLD

TDRD7 single QLD

TCOF1 single QLD

t(1;19) TCF3-PBX1 Single VIC

TBX5 single QLD

TBX4 single QLD

TBX3 single QLD

TBX2 single QLD

TBX19 single QLD

TBCE single QLD

TAZ single QLD

TARDBP-Related Amyotrophic Lateral Sclerosis (ALS) /Frontotemporal Dementia (FTD) Test - Sequencing Analysis of TARDBP Gene single NSW

TAF4B single QLD

TAF1 single QLD

TACSTD2 single QLD

TACR3 single QLD

TAC3 single QLD

t(8;21) RUNX1-RUNX1T1 Single VIC

t(8;21) RUNX1-RUNX1T1 Quantitative Analysis single VIC

t(15;17) PML-RARA Quantitative Analysis single VIC

t(14;18) BCL2-IGH Qualitative Analysis single VIC

Thalassaemia genetic testing Panel VIC

t(12;21) ETV6-RUNX1 Single VIC

TEL/AML1 FISH Cytogenetic QLD

t(9;22) BCR-ABL Quantitative Analysis single VIC

Targeted Somatic Panel Panel VIC

U

USP9Y single QLD

USH2A single QLD

USH2A single QLD

USH2A single QLD

USH1G single QLD

USH1C single QLD

USH1C single QLD

USH1C single QLD

UNC13D single NSW

UNC119 single QLD

UBIAD1 single QLD

UBE3A single QLD

V

VSX2 single QLD

VSX1 single QLD

VPS13A single QLD

VLDLR single QLD

VIM single QLD

VHL single QLD

Von Hippel-Lindau Disease (VHL) Molecular ACT

VHL single VIC

VHL single QLD

VHL single QLD

VEGFA single QLD

VDR single QLD

VCL single QLD

VCAN single QLD

VAX1 single QLD

Variant Hbs detection Panel NSW

W

WT1 single QLD

WT1 single QLD

WT1 single QLD

WT1 Single VIC

WT1 Mutation Single VIC

WRN single QLD

WRN single QLD

WRN single QLD

WRN single QLD

WNT4 single QLD

WHRN single QLD

WHRN single QLD

Wolf-Hirschhorn Syndrome Cytogenetic QLD

WFS1 single QLD

WFS1 single QLD

WFS1 single QLD

WDR36 single QLD

WDR19 single QLD

WDR11 single QLD

WDPCP single QLD

WDPCP single QLD

WASHC5 single QLD

WAS single QLD

WAS single QLD

Williams Syndrome Cytogenetic QLD

Wilson Disease (ATP7B gene) Molecular ACT

X

XRCC4 single QLD

XRCC2 single QLD

XPC single QLD

XPA single QLD

XIAP (BIRC4) single NSW

X-Linked Adrenoleukodystrophy (ALD) (ABCD1 gene) Molecular ACT

Y

Z

ZNF644 single QLD

ZNF513 single QLD

ZNF469 single QLD

ZNF423 single QLD

ZNF197 single QLD

ZMYND15 single QLD

ZMPSTE24 single QLD

ZFP57 single QLD

ZEB1 single QLD

ZBTB16 single QLD