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

 
Alphabetical Index
A
ABCA3 (also called ABC3 )
ABCB1 (also called GY1, MDR1, CLCS )
ABCC8 (also called CFTR/MRP )
ABCD1 (also called ALD )
ACADM
ACADS
ACTA1
ACTA2
ADA
ADSL
AFF2
AKT1 (also called AKT, PKB, PRKBA, RAC )
ALDOB (also called ALDOB )
ALK (also called CD246 )
AMELY
ANCR
APC
APOB
APOC2
APOE (also called AD2 )
APP (also called AD1 )
AR (also called DHTR, SBMA, AIS, NR3C4, SMAX1, HUMARA )
ARSA
ARSB
ARX
ASPA (also called Canavan disease )
ASS1 (also called "argininosuccinate synthetase", ASS )
ATL1 (also called SPG3, SPG3A, FSP1, AD-FSP )
ATM
ATN1 (also called D12S755E, DRPLA, B37 )
ATP13A2 (also called PARK9, HSA9947 )
ATP1A2 (also called FHM2 )
ATP7B
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
BCL2
BCL6 (also called zinc finger protein 51 )
BCR/ABL1
BIRC3/MALT1
BLM
BMPR1A
BRAF
BRCA1
BRCA2 (also called FANCD1, FACD, FANCD, FAD, FAD1, BRCC2 )
C
CACNA1A (also called CACNL1A4, SCA6, MHP1, MHP, Cav2.1, EA2, APCA, HPCA, FHM )
CACNA1S
CAPN3 (also called LGMD2, LGMD2A, CANP3, p94, nCL-1 )
CASR (also called HHC, HHC1, FHH, NSHPT, GPRC2A )
CAV3
CBFB
CBFB/MYH11
CBL (also called CBL2 )
CCM2
CCND1
CCR5 (also called CMKBR5, CKR-5, CC-CKR-5, CKR5, CD195 )
CD109 (also called FLJ38569, DKFZp762L1111, CPAMD7 )
CD177
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 )
CHIC2
Chromosome_1
Chromosome_10
Chromosome_11
Chromosome_12
Chromosome_13
Chromosome_14
Chromosome_15
Chromosome_16
Chromosome_17
Chromosome_18
Chromosome_19
Chromosome_2
Chromosome_20
Chromosome_21
Chromosome_22
Chromosome_3
Chromosome_4
Chromosome_5
Chromosome_6
Chromosome_7
Chromosome_8
Chromosome_9
Chromosome_X
Chromosome_Y
CLCN1 (also called Thomsen disease, autosomal dominant )
CLN3 (also called Batten, Spielmeyer-Vogt disease )
CNBP
COL1A1
COL1A2 (also called OI4, "osteogenesis imperfecta type IV" )
COL3A1 (also called EDS4A, "Ehlers-Danlos syndrome type IV, autosomal dominant" )
CPOX (also called CPOX (also called CPO, CPX, HCP) )
CRYAB
CSF1R (also called FMS, "McDonough feline sarcoma viral (v-fms) oncogene homolog", C-FMS, CD115, CSFR )
CSF3R (also called CD114 )
CTNNB1 (also called "catenin (cadherin-associated protein), beta 1 (88kD)", CTNNB, armadillo, beta-catenin )
CTNS
CYBB (also called CGD, )
CYP1B1 (also called GLC3A )
CYP21A2
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
DCLRE1C
DCX (also called doublecortin )
DDIT3
DDR2 (also called "discoidin domain receptor family, member 2", NTRKR3, TYRO10,TKT )
DES
DGCR
DGCR10
DHCR7
DLEU1
DMD (also called muscular dystrophy, Duchenne and Becker types )
DMPK
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" )
EPCAM
ERBB2 (also called NGL, "v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)",CD340, HER-2, HER2, NEU, "neuro/glioblastoma derived oncogene homolog" )
ERBB4 (also called "v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4",ALS19 )
ETV6 (also called TEL oncogene )
ETV6/RUNX1 (also called TEL/AML )
EVI1
EWSR1
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 )
EZH2 (also called "enhancer of zeste (Drosophila) homolog 2",ENX-1, EZH1, KMT6, KMT6A )
F
F13A1
F13B
F2
F5
F8 (also called F8C, FVIII, DXS1253E, HEMA )
F9
FAH (also called fumarylacetoacetase )
FANCC
FAS (also called APT1, FAS1, TNFRSF6, )
FBN1
FCGR2A (also called FCG2, FCGR2A1, FCGR2 )
FCGR3A (also called FCGR3, FCG3 )
FECH (also called FECH )
FGA
FGFR1 (also called FLT2, "fms-related tyrosine kinase 2", KAL2,BFGFR, CD331, CEK, FLG, H2, H3, H4, H5, N-SAM, "Pfeiffer syndrome" )
FGFR2
FGFR3 (also called achondroplasia, thanatophoric dwarfism )
FIP1L1/PDGFRA
FKBP10 (also called "FK506 binding protein 10 (65 kDa)" )
FKRP
FKTN (also called FCMD )
FLT3
FMR1
FSHMD1A (also called FMD, FSHD, D4Z4 )
FTL (also called FTL )
FXN (also called FRDA, FA, FARR, X25, CyaY )
G
G6PC
GALC
GALNS (also called GALNAC6S, GAS, )
GALT
GBA (also called includes glucosylceramidase )
GCH1 (also called GCH, DYT5, GTPCH1 )
GCK (also called hexokinase 4 )
GDAP1
GFAP
GJB1 (also called CMTX1, CMTX, CX32 )
GJB2
GJB6
GLA
GLDC
GLUD1
GNA11 (also called HHC2, "hypocalciuric hypercalcemia 2" ,FBH, FBH2, FHH2 )
GNAQ (also called G-ALPHA-q, GAQ )
GNAS (also called GNAS1 )
GP1BA (also called GP1B )
GP1BB (also called CD42c )
GP2
GP5 (also called CD42d )
GP6 (also called GPVI )
GP9 (also called CD42a, GPIX )
GPA33 (also called A33 )
GPD1L
GRN
GUSB
H
H19
HADHA (also called trifunctional protein )
HBA1
HBA2
HBB
HBD (also called HBD )
HBG1 (also called HBG1 )
HBG2 (also called HBG2 )
HEXA (also called "GM2 gangliosidosis", "Tay Sachs disease" )
HEXB
HFE
HIRA (also called DGCR1, )
HLA-A
HLA-B
HLA-B*27
HLA-B*5701
HLA-C (also called HLA-JY3, D6S204 )
HLA-DPA1
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 )
HLA-DRB5
HLCS
HMBS
HNF1A
HNF1B (also called TCF2 )
HNF4A
HPRT1 (also called Lesch-Nyhan syndrome )
HRAS (also called HRAS1, "v-Ha-ras Harvey rat sarcoma viral oncogene homolog" )
HSD17B4
HTT (also called HD, IT15 )
I
IDH1
IDH2
IDS (also called Hunter syndrome )
IDUA
IFNGR1 (also called IFNGR )
IGH@ (also called IGHDY1, IGH )
IGH@/BCL2 (also called IGH/BCL2 )
IGH@/MAF
IGH@/MYC
IGHV@
IKBKAP
IKBKG
IL12B (also called NKSF2, CLMF, CLMF2 )
IL2RG (also called severe combined immunodeficiency )
IL7R
INS
IPW
IRAK4
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 )
JAK2
JAK3 (also called JAK-3, JAK3_HUMAN, JAKL, L-JAK, "leukocyte Janus kinase", LJAK, "tyrosine-protein kinase JAK3" )
K
KAL1
KCNE1
KCNE2
KCNH2
KCNJ11
KCNJ2
KCNQ1
KCNQ1OT1
KDR (also called http://www.omim.org/entry/600173,OMIM 600173 )
KEL
KIT (also called PBT )
KRAS (also called KRAS2, KRAS1 )
KRIT1
L
LDB3
LDLR
LMNA (also called LMN1, CMD1A, LGMD1B, PRO1, LMNL1 )
LRRK2 (also called PARK8, ROCO2, DKFZp434H2111, FLJ45829, RIPK7 )
M
MALT1
MAP2K1 (also called MAPKK1, MEK1,PRKMK1 )
MAPT (also called DDPAC, MAPTL, MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2 )
MAX
MC2R (also called adrenocorticotropic hormone )
MC4R
MCOLN1
MECP2 (also called Rett syndrome )
MEFV (also called MEF, FMF, TRIM20 )
MEN1
MET (also called hepatocyte growth factor receptor )
MFN2
Mitochondrial_DNA
MLH1 (also called COCA2, HNPCC, FCC2, HNPCC2 )
MLL
MLL/AFF1 (also called MLL/AF4 )
MPL
MPZ (also called CMT1, CMT1B, HMSNIB )
MRAP (also called B27, FALP )
MSH2 (also called COCA1, HNPCC, HNPCC1 )
MSH6 (also called GTBP )
MSI
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 )
MTHFR
MTM1
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 )
MYD88
MYOC
MYOT
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" )
NOTCH1 (also called "Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)", TAN1 )
NOTCH3 (also called CASIL )
NPC1
NPHS1
NPHS2 (also called podocin )
NPM1
NR4A2 (also called NURR1, TINUR, NOT, RNR1, HZF-3 )
NRAS (also called N-ras )
O
OTC
P
PABPN1 (also called OPMD, PABP2, PAB2 )
PAFAH1B1
PANK2 (also called C20orf48, NBIA1, HSS, FLJ11729, PKAN )
PARK2
PARK7
PAX3/FOXO1A (also called PAX3/FKHR )
PAX6
PAX7/FOXO1A (also called FKHR/PAX7 )
PCSK9 (also called HCHOLA3, NARC-1, FH3 )
PDCD10
PDGFRA
PDGFRB
PEX1
PEX7
PIK3CA (also called "phosphoinositide-3-kinase, catalytic, alpha polypeptide",PI3K )
PINK1 (also called PARK6 )
PML/RARA
PMM2
PMP22
PMS2 (also called H_DJ0042M02.9, HNPCC4 )
POLG
POU1F1
PPOX (also called PPO )
PPP2R2B (also called "PP2A subunit B isoform beta", PR52B, PR55-BETA )
PPT1 (also called ceroid-lipofuscinosis, neuronal 1, infantile )
PRF1
PRNP (also called PRIP, GSS, CJD, CD230, PRP )
PROP1
PRSS1
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" )
PWCR
PYGM (also called McArdle syndrome, glycogen storage disease type V )
R
RAF1
RAG1
RAG2
RB1 (also called including osteosarcoma )
RCAN1
RET
RHCE
RHD
RUNX1 (also called acute myeloid leukemia 1; aml1 oncogene )
RUNX1/RUNX1T1 (also called RUNX1/ETO, AML1/ETO )
RYR1 (also called RYR )
S
SCN1B
SCN3B
SCN4A
SCN5A (also called sodium channel, voltage-gated, type V, alpha (long QT syndrome 3) )
SDHA (also called SDH2 )
SDHB
SDHC (also called PGL3 )
SDHD
SFTPB
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" )
SHOX
SLC14A1 (also called urea transporter )
SLC7A9 (also called CSNU3 )
SMAD3 (also called "MAD, mothers against decapentaplegic homolog 3 (Drosophila)", MADH3, "SMAD, mothers against DPP homolog 3 (Drosophila)" )
SMAD4
SMARCB1 (also called SNF5L1, BAF47, Ini1, Snr1, hSNFS, Sfh1p )
SMCR
SMN1
SMPD1
SNCA (also called PARK1, NACP, PD1 )
SNCAIP
SNRPN
SOD1 (also called ALS, ALS1, IPOA )
SOS1
SPAST (also called SPG4, FSP2, ADPSP, KIAA1083 )
SPG7 (also called CAR, "paraplegin", SPG5C )
SPINK1 (also called SPINK1 )
SPTLC1 (also called HSN1, LCB1, SPTI, HSAN1 )
SRC (also called SRC1,ASV, c-src )
SRY
SS18
STAT1
STAT3 (also called APRF )
STK11
STR_19q
STR_1p
STX11
STXBP1 (also called hUNC18, MUNC18-1, rbSec1, "syntaxin-binding protein 1", UNC18 )
SUMF1
SYNE1 (also called C6orf98 )
T
TBP
TCF3 (also called E2A immunoglobulin enhancer binding factors E12/E47 )
TCF3/PBX1
TGFB2
TGFBR1 (also called activin A receptor type II-like kinase, 53kDa )
TGFBR2
TH
THAP1 (also called "dystonia 6, torsion (autosomal dominant)", DYT6 )
TMEM127
TNFRSF1A
TOR1A (also called torsin A )
TP53
TPM3
TPMT
TPP1
TRAPPC2
TRB@ (also called TCRB, TRB )
TRG@ (also called TCRG, TRG )
TSPY1
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 )
UNC13D
UROD (also called UROD )
V
VHL
VKORC1 (also called VKCFD2 )
VWF
W
WBS2
WFS1 (also called wolframin )
WHCR
WT1 (also called GUD, WAGR, WIT-2 )