RCPA Catalogue of Genetic Tests and Laboratories

Here is a list of all the available genetic tests. You can either use the dropdown box to find the one you are looking for or you can use the alphabetically ordered list. They will both take you to where you want to go.

Available Tests

A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z

Alphabetical Index

A

ABCA3 (also called ABC3 )

ABCB1 (also called GY1, MDR1, CLCS )

ABCC8 (also called CFTR/MRP )

ABCD1 (also called ALD )

ALDOB (also called ALDOB )

APOE (also called AD2 )

APP (also called AD1 )

AR (also called DHTR, SBMA, AIS, NR3C4, SMAX1, HUMARA )

ASPA (also called Canavan disease )

ASS1 (also called "argininosuccinate synthetase", ASS )

ATL1 (also called SPG3, SPG3A, FSP1, AD-FSP )

ATN1 (also called D12S755E, DRPLA, B37 )

ATP13A2 (also called PARK9, HSA9947 )

ATP1A2 (also called FHM2 )

ATXN1 (also called SCA1, D6S504E, ATX1 )

ATXN2 (also called SCA2, TNRC13, ATX2 )

ATXN3 (also called SCA3, MJD, ATX3, JOS )

ATXN7 (also called SCA7, OPCA3, ADCAII )

AVP (also called neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal )

B

BCL6 (also called zinc finger protein 51 )

BRCA2 (also called FANCD1, FACD, FANCD, FAD, FAD1, BRCC2 )

C

CACNA1A (also called CACNL1A4, SCA6, MHP1, MHP, Cav2.1, EA2, APCA, HPCA, FHM )

CAPN3 (also called LGMD2, LGMD2A, CANP3, p94, nCL-1 )

CASR (also called HHC, HHC1, FHH, NSHPT, GPRC2A )

CBL (also called CBL2 )

CCR5 (also called CMKBR5, CKR-5, CC-CKR-5, CKR5, CD195 )

CD109 (also called FLJ38569, DKFZp762L1111, CPAMD7 )

CD36 (also called thrombospondin receptor )

CDH1 (also called UVO )

CDKL5 (also called "serine/threonine kinase 9", STK9 )

CDKN1C (also called BWCR, BWS, P57, KIP2 )

CDKN2A (also called CDKN2, MLM, CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a )

CEBPA (also called CEBP )

CFTR (also called ATP-binding cassette sub-family C, member 7 )

CLCN1 (also called Thomsen disease, autosomal dominant )

CLN3 (also called Batten, Spielmeyer-Vogt disease )

COL1A2 (also called OI4, "osteogenesis imperfecta type IV" )

CPOX (also called CPOX (also called CPO, CPX, HCP) )

CYBB (also called CGD, )

CYP1B1 (also called GLC3A )

CYP24A1 (also called CYP24 )

CYP2C19 (also called CYP2C, P450IIC19, CPCJ )

CYP2C9 (also called CYP2C10, P450IIC9 )

CYP2D6 (also called CYP2DL1, CPD6, P450-DB1, CYP2D, P450C2D )

D

DCX (also called doublecortin )

DMD (also called muscular dystrophy, Duchenne and Becker types )

E

EBP (also called sterol isomerase )

EGFR (also called "epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)", ERBB )

ELANE (also called ELA2, )

ELN (also called supravalvular aortic stenosis, Williams-Beuren syndrome )

EMD (also called "Emery-Dreifuss muscular dystrophy" )

ETV6 (also called TEL oncogene )

ETV6/RUNX1 (also called TEL/AML )

EWSR1/ERG (also called EWS/ERG )

EWSR1/FLI1 (also called EWS/FLI1 )

EWSR1/WT1 (also called EWS/WT1, WT1/EWS )

EXT1 (also called LGCR, LGS, ttv )

F

F8 (also called F8C, FVIII, DXS1253E, HEMA )

FAH (also called fumarylacetoacetase )

FAS (also called APT1, FAS1, TNFRSF6, )

FCGR2A (also called FCG2, FCGR2A1, FCGR2 )

FCGR3A (also called FCGR3, FCG3 )

FECH (also called FECH )

FGFR3 (also called achondroplasia, thanatophoric dwarfism )

FKBP10 (also called "FK506 binding protein 10 (65 kDa)" )

FKTN (also called FCMD )

FSHMD1A (also called FMD, FSHD, D4Z4 )

FTL (also called FTL )

FXN (also called FRDA, FA, FARR, X25, CyaY )

G

GALNS (also called GALNAC6S, GAS, )

GBA (also called includes glucosylceramidase )

GCH1 (also called GCH, DYT5, GTPCH1 )

GCK (also called hexokinase 4 )

GJB1 (also called CMTX1, CMTX, CX32 )

GNAS (also called GNAS1 )

GP1BA (also called GP1B )

GP1BB (also called CD42c )

GP5 (also called CD42d )

GP6 (also called GPVI )

GP9 (also called CD42a, GPIX )

GPA33 (also called A33 )

H

HADHA (also called trifunctional protein )

HBD (also called HBD )

HBG1 (also called HBG1 )

HBG2 (also called HBG2 )

HEXA (also called "GM2 gangliosidosis", "Tay Sachs disease" )

HIRA (also called DGCR1, )

HLA-C (also called HLA-JY3, D6S204 )

HLA-DPB1 (also called HLA-DP1B )

HLA-DQA1 (also called HLA-DQA, CELIAC1 )

HLA-DQB1 (also called HLA-DQB, IDDM1, CELIAC1 )

HLA-DRB1 (also called HLA-DR1B )

HLA-DRB3 (also called HLA-DR3B )

HLA-DRB4 (also called HLA-DR4B )

HNF1B (also called TCF2 )

HPRT1 (also called Lesch-Nyhan syndrome )

HTT (also called HD, IT15 )

I

IDS (also called Hunter syndrome )

IFNGR1 (also called IFNGR )

IGH@ (also called IGHDY1, IGH )

IGH@/BCL2 (also called IGH/BCL2 )

IL12B (also called NKSF2, CLMF, CLMF2 )

IL2RG (also called severe combined immunodeficiency )

ITGA2 (also called CD49B, CD49b )

ITGA2B (also called platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41 )

ITGB3 (also called platelet glycoprotein IIIa, antigen CD61 )

J

JAG1 (also called Alagille syndrome )

K

KIT (also called PBT )

KRAS (also called KRAS2, KRAS1 )

L

LMNA (also called LMN1, CMD1A, LGMD1B, PRO1, LMNL1 )

LRRK2 (also called PARK8, ROCO2, DKFZp434H2111, FLJ45829, RIPK7 )

M

MAPT (also called DDPAC, MAPTL, MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2 )

MC2R (also called adrenocorticotropic hormone )

MECP2 (also called Rett syndrome )

MEFV (also called MEF, FMF, TRIM20 )

MET (also called hepatocyte growth factor receptor )

Mitochondrial_DNA

MLH1 (also called COCA2, HNPCC, FCC2, HNPCC2 )

MLL/AFF1 (also called MLL/AF4 )

MPZ (also called CMT1, CMT1B, HMSNIB )

MRAP (also called B27, FALP )

MSH2 (also called COCA1, HNPCC, HNPCC1 )

MSH6 (also called GTBP )

MT-ATP6 (also called MTATP6, ATP6 )

MT-CO1 (also called MTCO1, COX1 )

MT-CO2 (also called MTCO2, COX2 )

MT-CO3 (also called MTCO3, COX3 )

MT-ND1 (also called MTND1, ND1, NAD1 )

MT-ND4 (also called MTND4, ND4, NAD4 )

MT-ND5 (also called MTND5, ND5, NAD5 )

MT-ND6 (also called MTND6, NAD6, ND6 )

MT-RNR1 (also called MTRNR1 )

MT-TK (also called MERRF, MTTK, trnK )

MT-TL1 (also called MTTL1, TRNL1 )

MUTYH (also called MYH )

MVK (also called mevalonate kinase (mevalonic aciduria) )

MYB (also called c-myb )

MYC (also called bHLHe39, c-Myc )

MYCN (also called NMYC )

N

NAGLU (also called Sanfilippo disease IIIB )

NDP (also called EVR2 )

NDRG1 (also called CAP43 )

NF2 (also called merlin )

NFKBIA (also called NFKBI )

NIPA1 (also called SPG6, MGC35570 )

NKX2-1 (also called BCH, "benign chorea", NKX2A, "thyroid transcription factor 1", TITF1 )

NLRP3 (also called C1orf7, CIAS1, "cold autoinflammatory syndrome 1" )

NOTCH3 (also called CASIL )

NPHS2 (also called podocin )

NR4A2 (also called NURR1, TINUR, NOT, RNR1, HZF-3 )

O

P

PABPN1 (also called OPMD, PABP2, PAB2 )

PANK2 (also called C20orf48, NBIA1, HSS, FLJ11729, PKAN )

PAX3/FOXO1A (also called PAX3/FKHR )

PAX7/FOXO1A (also called FKHR/PAX7 )

PCSK9 (also called HCHOLA3, NARC-1, FH3 )

PINK1 (also called PARK6 )

PMS2 (also called H_DJ0042M02.9, HNPCC4 )

PPOX (also called PPO )

PPP2R2B (also called "PP2A subunit B isoform beta", PR52B, PR55-BETA )

PPT1 (also called ceroid-lipofuscinosis, neuronal 1, infantile )

PRNP (also called PRIP, GSS, CJD, CD230, PRP )

PSAP (also called variant Gaucher disease and variant metachromatic leukodystrophy )

PSEN1 (also called AD3, FAD, S182, PS1 )

PSEN2 (also called AD4, AD3L, STM2, PS2 )

PTEN (also called mutated in multiple advanced cancers 1 )

PTPN11 (also called "Noonan syndrome 1" )

PYGM (also called McArdle syndrome, glycogen storage disease type V )

R

RB1 (also called including osteosarcoma )

RUNX1 (also called acute myeloid leukemia 1; aml1 oncogene )

RUNX1/RUNX1T1 (also called RUNX1/ETO, AML1/ETO )

RYR1 (also called RYR )

S

SCN5A (also called sodium channel, voltage-gated, type V, alpha (long QT syndrome 3) )

SDHA (also called SDH2 )

SDHC (also called PGL3 )

SFTPC (also called SFTP2, "surfactant, pulmonary-associated protein C" )

SGCE (also called DYT11 )

SGSH (also called sulfamidase )

SH2D1A (also called IMD5, "lymphoproliferative syndrome", LYP, "SH2 domain protein 1A" )

SLC14A1 (also called urea transporter )

SLC7A9 (also called CSNU3 )

SMARCB1 (also called SNF5L1, BAF47, Ini1, Snr1, hSNFS, Sfh1p )

SNCA (also called PARK1, NACP, PD1 )

SOD1 (also called ALS, ALS1, IPOA )

SPAST (also called SPG4, FSP2, ADPSP, KIAA1083 )

SPG7 (also called CAR, "paraplegin", SPG5C )

SPINK1 (also called SPINK1 )

SPTLC1 (also called HSN1, LCB1, SPTI, HSAN1 )

STAT3 (also called APRF )

STXBP1 (also called hUNC18, MUNC18-1, rbSec1, "syntaxin-binding protein 1", UNC18 )

SYNE1 (also called C6orf98 )

T

TCF3 (also called E2A immunoglobulin enhancer binding factors E12/E47 )

TGFBR1 (also called activin A receptor type II-like kinase, 53kDa )

THAP1 (also called "dystonia 6, torsion (autosomal dominant)", DYT6 )

TOR1A (also called torsin A )

TRB@ (also called TCRB, TRB )

TRG@ (also called TCRG, TRG )

TTR (also called PALB, HsT2651 )

U

UBE3A (also called EPVE6AP, HPVE6A, AS, ANCR, E6-AP, FLJ26981 )

UCHL1 (also called PARK5, PGP9.5, Uch-L1 )

UGT1A1 (also called UGT1, GNT1, UGT1A )

UROD (also called UROD )

V

VKORC1 (also called VKCFD2 )

W

WFS1 (also called wolframin )

WT1 (also called GUD, WAGR, WIT-2 )

The following information is provided and updated from time to time by laboratories providing genetic testing. The list of laboratories is not an exhaustive list of the laboratories that provide such testing. Links to a third party website are provided for convenience only. The Royal College of Pathologists of Australasia (RCPA) accepts no responsibility for, and makes no representation concerning, the accuracy, appropriateness, and completeness of the information contained on the following pages or on any linked websites. The RCPA does not provide any direct or implied endorsement of the tests or laboratories listed, and accepts no responsibility for the information provided. The RCPA recommends that all medical testing be performed in an accredited laboratory, and emphasises that the listing of a test or laboratory on this page does not imply that it has been accredited by NATA/RCPA or any other organisation. Users of this information should seek expert professional advice before making any decisions based on this information. Please note that charges may apply for gene tests; enquiries about charges should be made to the laboratory to which a sample is to be referred prior to referral. Users access the linked websites at their own risk.