Blueprint Genetics, Blueprint Genetics

General information

Blueprint Genetics, Blueprint Genetics

Haartmaninkatu 8
Biomedicum 1
Helsinki
Southern Finland
Finland - 00290
http://www.blueprintgenetics.com/
Organization ID: 500188

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 5276

Gene

GeneSubmissionsLast Updated
ABCA4385Jul 22, 2020
ABCC61May 8, 2019
ABCC99May 8, 2019
ABCG51Jan 15, 2016
ABHD126Oct 15, 2019
ABL11May 8, 2019
ACADVL2Jan 15, 2016
ACO21Oct 15, 2019
ACTA11May 8, 2019
ACTA214May 8, 2019
ACTA2-AS16May 8, 2019
ACTB1May 8, 2019
ACTC110May 8, 2019
ACTN11May 8, 2019
ACTN218May 8, 2019
ACVRL11Feb 2, 2015
ADA5May 8, 2019
ADA24May 8, 2019
ADAM171May 8, 2019
ADGRV140Oct 15, 2019
AGBL58Oct 15, 2019
AHI117Oct 15, 2019
AICDA1May 8, 2019
AIPL17Oct 15, 2019
AIRE5May 8, 2019
AK21May 8, 2019
AKAP920Jan 15, 2016
ALMS125Oct 15, 2019
ALPK36May 8, 2019
ANK221Jan 15, 2016
ANKRD15Jan 15, 2016
APOA11May 8, 2019
APOA1-AS1May 8, 2019
APOB4Feb 2, 2015
ARHGEF184Oct 15, 2019
ARPC1B1May 8, 2019
ATM8May 8, 2019
AXDND11Feb 2, 2015
BACH23May 8, 2019
BAG314May 8, 2019
BBS112Oct 15, 2019
BBS106Oct 15, 2019
BBS1214Oct 15, 2019
BBS29Oct 15, 2019
BBS44Oct 15, 2019
BBS51Oct 15, 2019
BBS73Oct 15, 2019
BBS93Oct 15, 2019
BEST143Oct 15, 2019
BGN2May 8, 2019
BLOC1S1-RDH55Oct 15, 2019
BMPR22Jan 15, 2016
BRAF8May 8, 2019
BTK4May 8, 2019
C10orf1054Oct 15, 2019
C11orf654May 8, 2019
C12orf293Oct 15, 2019
C1QA1May 8, 2019
C1QTNF511Oct 15, 2019
C1R1May 8, 2019
C22May 8, 2019
C34May 8, 2019
C62May 8, 2019
C73May 8, 2019
C8G1May 8, 2019
C8orf371Oct 15, 2019
CABP43Oct 15, 2019
CACNA1A1Jul 23, 2020
CACNA1C12Jan 15, 2016
CACNA1C-AS16Jan 15, 2016
CACNA1F21Oct 15, 2019
CACNA2D13Jan 15, 2016
CACNA2D44Oct 15, 2019
CACNB27Jan 15, 2016
CALM12Feb 2, 2015
CALR33Feb 2, 2015
CAPN52Oct 15, 2019
CARD1111May 8, 2019
CARD92May 8, 2019
CARMIL22May 8, 2019
CASP82May 8, 2019
CASQ21Jan 15, 2016
CAV31Jan 15, 2016
CBL3May 8, 2019
CBS1May 8, 2019
CC2D2A1Oct 15, 2019
CCDC401May 8, 2019
CD193May 8, 2019
CD272May 8, 2019
CD27-AS12May 8, 2019
CD3D1May 8, 2019
CD401May 8, 2019
CD40LG3May 8, 2019
CD812May 8, 2019
CDH2324Oct 15, 2019
CDH23-AS11Oct 15, 2019
CDH31Oct 15, 2019
CDHR114Oct 15, 2019
CDKL524Jul 23, 2020
CEP1642Oct 15, 2019
CEP29037Oct 15, 2019
CEP787Oct 15, 2019
CEP85L3Jan 15, 2016
CERKL21Oct 15, 2019
CFAP4108Oct 15, 2019
CFD2May 8, 2019
CFH5May 8, 2019
CFI1May 8, 2019
CFTR3May 8, 2019
CFTR-AS12May 8, 2019
CHD22Jul 23, 2020
CHM29Oct 15, 2019
CIITA2May 8, 2019
CLASP12May 8, 2019
CLCN51May 8, 2019
CLCN71May 8, 2019
CLN39Oct 15, 2019
CLRN19Oct 15, 2019
CLRN1-AS11Oct 15, 2019
CNGA118Oct 15, 2019
CNGA333Sep 29, 2020
CNGB127Oct 15, 2019
CNGB313Oct 15, 2019
CNNM42Oct 15, 2019
COL11A13May 8, 2019
COL11A22Oct 15, 2019
COL18A13Oct 15, 2019
COL1A13May 8, 2019
COL1A25May 8, 2019
COL2A18Oct 15, 2019
COL3A122May 8, 2019
COL5A118May 8, 2019
COL5A222May 8, 2019
COMT1Jan 15, 2016
COPA2May 8, 2019
CR25May 8, 2019
CRB169Oct 15, 2019
CRX19Oct 15, 2019
CRYAB3Jan 15, 2016
CSF2RA1May 8, 2019
CSF3R1May 8, 2019
CSRP311May 8, 2019
CTC11May 8, 2019
CTF12Jan 15, 2016
CTLA44May 8, 2019
CTNNA18Oct 15, 2019
CTNNA314Jan 15, 2016
CTSC1May 8, 2019
CWC271Oct 15, 2019
CXCR41May 8, 2019
CYBA1May 8, 2019
CYBB2May 8, 2019
CYGB2Oct 15, 2019
CYP4V27Oct 15, 2019
DCLRE1C1May 8, 2019
DCX1Jul 23, 2020
DES11May 8, 2019
DGKE1May 8, 2019
DLG41Feb 2, 2015
DMD14May 8, 2019
DMPK3Jan 15, 2016
DNAAF11May 8, 2019
DNAAF41May 8, 2019
DNAAF4-CCPG11May 8, 2019
DNAAF52May 8, 2019
DNAH112May 8, 2019
DNAH51May 8, 2019
DNAJC211May 8, 2019
DNMT3B1May 8, 2019
DOCK27May 8, 2019
DOCK81May 8, 2019
DPH22May 8, 2020
DPP64Jan 15, 2016
DRAM22Oct 15, 2019
DSC218May 8, 2019
DSCAS1Jan 15, 2016
DSG222Jan 15, 2016
DSG2-AS18Jan 15, 2016
DSP69May 8, 2019
DTHD12Oct 15, 2019
DTNA6Jan 15, 2016
DYNC2LI11Jan 15, 2016
DYSF2May 8, 2019
EFEMP16Oct 15, 2019
EFEMP21May 8, 2019
ELANE4May 8, 2019
ELN6May 8, 2019
ELOVL42Oct 15, 2019
EMD2Jan 15, 2016
ENG2Jan 15, 2016
ESR22Jan 15, 2016
EYA41Jan 15, 2016
EYS111Oct 15, 2019
FAM161A7Oct 15, 2019
FAS3May 8, 2019
FBLN52Oct 15, 2019
FBN1103May 8, 2019
FBN216May 8, 2019
FHL16May 8, 2019
FHL25Jan 15, 2016
FLNA8May 8, 2019
FLNC17May 8, 2019
FLNC-AS17May 8, 2019
FLVCR19Oct 15, 2019
FOXP32May 8, 2019
FPGT-TNNI3K2May 8, 2019
FRMD71Oct 15, 2019
FZD42Oct 15, 2019
G6PD2May 8, 2019
GAA3May 8, 2019
GANAB2May 8, 2019
GATA23May 8, 2019
GATA56May 8, 2019
GATA61May 8, 2019
GATAD11Oct 15, 2019
GFI11May 8, 2019
GIGYF22Oct 15, 2019
GLA9May 8, 2019
GLB11Mar 2, 2015
GNAT12Oct 15, 2019
GNAT22Oct 15, 2019
GPD1L3Jan 15, 2016
GPHN13Oct 15, 2019
GPR1796Oct 15, 2019
GRM66Oct 15, 2019
GUCA1A10Oct 15, 2019
GUCY2D26Oct 15, 2019
HARS12Oct 15, 2019
HAX11May 8, 2019
HCN47May 8, 2019
HFE5Jan 15, 2016
HFE-AS13Jan 15, 2016
HGSNAT11May 15, 2020
HK14Oct 15, 2019
HNF1B1May 8, 2019
HRAS7May 8, 2019
HRC2Jan 15, 2016
HYDIN1May 8, 2019
HYOU11May 8, 2019
IFIH13May 8, 2019
IFNGR11May 8, 2019
IFNGR21May 8, 2019
IFT14032Oct 15, 2019
IFT1724Oct 15, 2019
IKZF13May 8, 2019
IL10RB1May 8, 2019
IL12RB12May 8, 2019
IL2RG3May 8, 2019
IL36RN1May 8, 2019
IL7R3May 8, 2019
ILK7Jan 15, 2016
IMPDH116Oct 15, 2019
IMPG111Oct 15, 2019
IMPG242Oct 15, 2019
INF21Feb 2, 2015
INPP5E10Oct 15, 2019
INVS1May 8, 2019
IQCB14Oct 15, 2019
IRF2BP25May 8, 2019
ITGA42Oct 15, 2019
ITGB23May 8, 2019
ITK1May 8, 2019
JAG11Oct 15, 2019
JAK34May 8, 2019
JPH216May 8, 2019
JUP14May 8, 2019
KCNA22Jul 23, 2020
KCND32Jan 15, 2016
KCNE12Jan 15, 2016
KCNE21Feb 2, 2015
KCNH234Jan 15, 2016
KCNJ132Oct 15, 2019
KCNJ25Jan 15, 2016
KCNJ82Jan 15, 2016
KCNV218Oct 15, 2019
KIAA05862Oct 15, 2019
KIF114Oct 15, 2019
KIF1A1Jul 23, 2020
KIZ5Oct 15, 2019
KIZ-AS11Oct 15, 2019
KLHL77Oct 15, 2019
KRAS9May 8, 2019
LAMA412Jan 15, 2016
LAMB22Jan 15, 2016
LAMP29May 8, 2019
LAT1May 8, 2019
LCA57Oct 15, 2019
LDB38Jan 15, 2016
LDLR7Jan 15, 2016
LIG42May 8, 2019
LMNA31May 8, 2019
LOC1001289791Jan 15, 2016
LOC1001307986Oct 15, 2019
LOC1014482024Jan 15, 2016
LOC1019270551May 8, 2019
LOC10192715718Oct 15, 2019
LOC10192817410May 8, 2019
LOC1027240581Jul 23, 2020
LOC10537104614Oct 15, 2019
LOC10537104910May 8, 2019
LOC1060293123May 8, 2019
LOC1073033431May 8, 2019
LOC1101212692Jan 15, 2016
LOC1108063061May 8, 2019
LOC1116744721May 8, 2019
LOC1148278501May 8, 2019
LOC1148278513Jan 15, 2016
LOC11814275710Oct 15, 2019
LPIN22May 8, 2019
LPL1Feb 2, 2015
LRBA16May 8, 2019
LRP59Oct 15, 2019
LRRC567May 8, 2019
LRRC61May 8, 2019
LYST4May 8, 2019
LZTR16May 8, 2019
MAGT11May 8, 2019
MAK6Oct 15, 2019
MALT13May 8, 2019
MALT1-AS11May 8, 2019
MAP2K23May 8, 2019
MASP14May 8, 2019
MASP21May 8, 2019
MECP24Jul 23, 2020
MEF2C1Jul 23, 2020
MEFV1May 8, 2019
MERTK30Oct 15, 2019
MFAP51May 8, 2019
MFRP11Oct 15, 2019
MFSD83Jul 23, 2020
MHRT11May 8, 2019
MIB15Jan 15, 2016
MKKS4Oct 15, 2019
MMACHC1Oct 15, 2019
MSN1May 8, 2019
MTM11Jun 24, 2020
MVK4Oct 15, 2019
MYBPC3162May 8, 2019
MYH1124May 8, 2019
MYH625May 8, 2019
MYH7114May 8, 2019
MYL27May 8, 2019
MYL310May 8, 2019
MYLK7Jan 15, 2016
MYLK-AS11Jan 15, 2016
MYLK22Jan 15, 2016
MYO7A45Oct 15, 2019
MYOM110Jan 15, 2016
MYPN12Jan 15, 2016
NBN1May 8, 2019
NCAPH21Jan 15, 2016
NCF13May 8, 2019
NCF22May 8, 2019
NDE17May 8, 2019
NEBL6Jan 15, 2016
NEXN10Jan 15, 2016
NF19May 8, 2019
NFKB19May 8, 2019
NFKB24May 8, 2019
NFKBIA2May 8, 2019
NLRC42May 8, 2019
NLRP13May 8, 2019
NLRP123May 8, 2019
NLRP32May 8, 2019
NMNAT18Oct 15, 2019
NOD21May 8, 2019
NOTCH127May 8, 2019
NPHP34May 8, 2019
NPHP3-ACAD114May 8, 2019
NPHP47Oct 15, 2019
NPHS111Jan 15, 2016
NPHS23Jan 15, 2016
NR2E327Oct 15, 2019
NRAS1May 8, 2019
NRL6Oct 15, 2019
NSUN66Jan 15, 2016
NYX7Oct 15, 2019
OAT3Oct 15, 2019
ODAD11May 8, 2019
OFD12Oct 15, 2019
OPA17Oct 15, 2019
OPA1-AS11Oct 15, 2019
OTX22Oct 15, 2019
PARN1May 8, 2019
PAX23Oct 15, 2019
PCARE18Oct 15, 2019
PCDH154Oct 15, 2019
PCDH191Jul 23, 2020
PDE6A28Oct 15, 2019
PDE6B40Oct 15, 2019
PDE6B-AS18Oct 15, 2019
PDE6C9Oct 15, 2019
PDE6G1Oct 15, 2019
PDLIM33Jan 15, 2016
PEX15Oct 15, 2019
PEX62Oct 15, 2019
PHF317Oct 15, 2019
PHYH4Oct 15, 2019
PIGT1Jul 23, 2020
PIK3CD8May 8, 2019
PIK3R11May 8, 2019
PITPNM35Oct 15, 2019
PKD192May 8, 2019
PKD220May 8, 2019
PKHD145May 8, 2019
PKP225May 8, 2019
PLCG26May 8, 2019
PLN3Jan 15, 2016
PNP3May 8, 2019
PNPLA62Oct 15, 2019
POC1B2Oct 15, 2019
POLE3May 8, 2019
PPP1CB1May 8, 2019
PPT11Jul 23, 2020
PRCD2Oct 15, 2019
PRDM132Oct 15, 2019
PRDM162May 8, 2019
PRF11May 8, 2019
PRKAG212May 8, 2019
PRKCSH1May 8, 2019
PRKDC6May 8, 2019
PRKG13Jan 15, 2016
PROM136Oct 15, 2019
PRPF310Oct 15, 2019
PRPF3147Oct 15, 2019
PRPF44Oct 15, 2019
PRPF64Oct 15, 2019
PRPF822Oct 15, 2019
PRPH258Oct 15, 2019
PRPS12Oct 15, 2019
PRSS232Oct 15, 2019
PSEN21Feb 2, 2015
PTPN1127May 8, 2019
PTPRC3May 8, 2019
RAB27A1May 8, 2019
RAB283Oct 15, 2019
RAF119May 8, 2019
RAG19May 8, 2019
RAG22May 8, 2019
RAX210Oct 15, 2019
RBM2025May 8, 2019
RBP35Oct 15, 2019
RDH1228Oct 15, 2019
RDH55Oct 15, 2019
REEP62Oct 15, 2019
RFX54May 8, 2019
RFXANK3May 8, 2019
RFXAP2May 8, 2019
RHO47Oct 15, 2019
RIC31Oct 15, 2019
RIMS112Oct 15, 2019
RIT14May 8, 2019
RLBP14Oct 15, 2019
RNASEH2A1May 8, 2019
RNASEH2B1Jul 23, 2020
RNASEH2C2May 8, 2019
RNF311May 8, 2019
RNU4ATAC2May 8, 2019
ROM13Oct 15, 2019
RP150Oct 15, 2019
RP1L130Oct 15, 2019
RP220Oct 15, 2019
RPE6519Oct 15, 2019
RPGR231Aug 6, 2020
RPGRIP113Oct 15, 2019
RPGRIP1L4Oct 15, 2019
RPL36A-HNRNPH29May 8, 2019
RRAS1May 8, 2019
RS128Oct 15, 2019
RTEL12May 8, 2019
RTEL1-TNFRSF6B2May 8, 2019
RYR255Jan 15, 2016
SAG6Oct 15, 2019
SAMD91May 8, 2019
SAMHD13May 8, 2019
SBDS2May 8, 2019
SCN1A3Jul 23, 2020
SCN1A-AS11May 8, 2019
SCN1B2Jan 15, 2016
SCN2A2Jul 23, 2020
SCN3B2Jan 15, 2016
SCN4B1Aug 28, 2014
SCN5A52May 8, 2019
SCN9A1May 8, 2019
SCO21Jan 15, 2016
SDHA1Jan 15, 2016
SEC632May 8, 2019
SEMA4A4Oct 15, 2019
SH2D1A1May 8, 2019
SHOC22Jan 15, 2016
SIX51May 8, 2019
SKI6May 8, 2019
SLC19A11Oct 15, 2019
SLC19A31Jul 23, 2020
SLC24A14Oct 15, 2019
SLC29A31May 8, 2019
SLC2A101Jan 15, 2016
SLC6A81Jul 23, 2020
SLC7A142Oct 15, 2019
SLC7A14-AS12Oct 15, 2019
SLC7A91May 8, 2019
SLMAP1Jan 15, 2016
SMAD313May 8, 2019
SNRNP20029Oct 15, 2019
SNTA15Jan 15, 2016
SOS119May 8, 2019
SOS21May 8, 2019
SPATA72Oct 15, 2019
SPINK51May 8, 2019
SPRED12May 8, 2019
STAT25May 8, 2019
STAT38May 8, 2019
STAT5B2May 8, 2019
STIM12May 8, 2019
STING12May 8, 2019
STXBP12Jul 23, 2020
STXBP21May 8, 2019
SYN34Oct 15, 2019
SYNE12Jan 15, 2016
SYNE25Jan 15, 2016
SYNGAP11Jul 23, 2020
TAF106Jan 15, 2016
TAP11May 8, 2019
TAP21May 8, 2019
TAPBP2May 8, 2019
TAZ1Jan 15, 2016
TBX11May 8, 2019
TBX51May 8, 2019
TCAP3Jan 15, 2016
TCF32May 8, 2019
TERC1May 8, 2019
TERT2May 8, 2019
TGFB210May 8, 2019
TGFB36May 8, 2019
TGFBR114May 8, 2019
TGFBR213May 8, 2019
THBD2May 8, 2019
TIMP34Oct 15, 2019
TINF21May 8, 2019
TLDC21May 8, 2019
TMEM437Jan 15, 2016
TMPO3Feb 2, 2015
TMPO-AS11Feb 2, 2015
TNFAIP31May 8, 2019
TNFRSF13B6May 8, 2019
TNNC12May 8, 2019
TNNI318May 8, 2019
TNNI3K2May 8, 2019
TNNT227May 8, 2019
TOPORS9Oct 15, 2019
TPM122May 8, 2019
TPM1-AS1Jan 15, 2016
TPP12Jul 23, 2020
TRIM635Jan 15, 2016
TRPC61Jan 15, 2016
TRPM17Oct 15, 2019
TRPM411Jan 15, 2016
TSC11Jul 23, 2020
TSFM2Jan 15, 2016
TSPAN122Oct 15, 2019
TTC21B2Oct 15, 2019
TTC21B-AS11Oct 15, 2019
TTC84Oct 15, 2019
TTLL59Oct 15, 2019
TTN121May 8, 2019
TTN-AS179May 8, 2019
TTR2May 8, 2019
TUB1Oct 15, 2019
TULP120Oct 15, 2019
TXNRD210Jan 15, 2016
TYK22May 8, 2019
UBE3A3Jul 23, 2020
UMOD1May 8, 2019
UNC1191May 8, 2019
USH1C3Oct 15, 2019
USH2A353Oct 15, 2019
USH2A-AS125Oct 15, 2019
USH2A-AS221Oct 15, 2019
VCAN5Oct 15, 2019
VCAN-AS12Oct 15, 2019
VCL7May 8, 2019
WDR199Oct 15, 2019
WT14Jan 15, 2016
XIAP2May 8, 2019
ZAP704May 8, 2019
ZDHHC248Oct 15, 2019
ZEB21Jul 23, 2020
ZFYVE2613Oct 15, 2019
ZNF4081Oct 15, 2019
ZNF5132Oct 15, 2019

Condition

NameSubmissionsLast Updated
16p11.2 deletion syndrome1Jul 23, 2020
AV Block Third Degree Adverse Event1Feb 2, 2015
AV junctional rhythm1Feb 2, 2015
Aicardi Goutieres syndrome 21Jul 23, 2020
Andersen Tawil syndrome3Jan 15, 2016
Angelman syndrome3Jul 23, 2020
Aortic valve disorder4Jan 15, 2016
Arrhythmogenic right ventricular cardiomyopathy58Jan 15, 2016
Arterial dissection6Jan 15, 2016
Atrial septal defect1Feb 2, 2015
Biotin-responsive basal ganglia disease1Jul 23, 2020
Brugada syndrome20Jan 15, 2016
Cardiac arrest34Jan 15, 2016
Cardiac arrhythmia1Feb 2, 2015
Cardiac conduction defect, nonspecific3Jan 15, 2016
Cardio-facio-cutaneous syndrome3Jan 15, 2016
Cardiomyopathy27Jan 15, 2016
Catecholaminergic polymorphic ventricular tachycardia type 130Jan 15, 2016
Ceroid lipofuscinosis neuronal 22Jul 23, 2020
Channelopathy1Feb 2, 2015
Chromosome 1p36 deletion syndrome1Jul 23, 2020
Collapse (finding)4Feb 2, 2015
Congenital contractural arachnodactyly1Jan 15, 2016
Coronary heart disease1Feb 2, 2015
Costello syndrome4Jan 15, 2016
Creatine transporter deficiency1Jul 23, 2020
Cutaneous polyarteritis nodosa1Feb 2, 2015
Cyclical neutropenia1Feb 2, 2015
Danon disease1Jan 15, 2016
Diastolic dysfunction2Feb 2, 2015
Disproportionate tall stature2Aug 28, 2014
Early infantile epileptic encephalopathy 112Jul 23, 2020
Early infantile epileptic encephalopathy 21Jul 23, 2020
Early infantile epileptic encephalopathy 42Jul 23, 2020
Early infantile epileptic encephalopathy 91Jul 23, 2020
Ehlers-Danlos syndrome, classic type1Jan 15, 2016
Ehlers-Danlos syndrome, type 31Jan 15, 2016
Ehlers-Danlos syndrome, type 43Jan 15, 2016
Epileptic encephalopathy, childhood-onset2Jul 23, 2020
Epileptic encephalopathy, early infantile, 322Jul 23, 2020
Episodic ataxia type 21Jul 23, 2020
Fabry disease4Jan 15, 2016
Familial abdominal aortic aneurysm 11Feb 2, 2015
Familial hypercholesterolemia 110Jan 15, 2016
Familial hypercholesterolemia 21Feb 2, 2015
Familial hypertrophic cardiomyopathy 61Feb 2, 2015
Familial thoracic aortic aneurysm and aortic dissection62Jan 15, 2016
Finnish congenital nephrotic syndrome3Feb 2, 2015
First degree atrioventricular block1Jan 15, 2016
Focal segmental glomerulosclerosis2Jan 15, 2016
Global developmental delay2May 8, 2020
Heart disease2Jan 15, 2016
Hemochromatosis type 15Jan 15, 2016
Hereditary hemorrhagic telangiectasia type 11Jan 15, 2016
Hereditary nephrotic syndrome5Jan 15, 2016
History of Sudden Cardiac Death1Feb 2, 2015
Hutchinson-Gilford progeria syndrome, childhood-onset1Mar 2, 2015
Intellectual disability, autosomal dominant 91Jul 23, 2020
Left ventricular noncompaction cardiomyopathy42Jan 15, 2016
Lissencephaly, X-linked1Jul 23, 2020
Loeys-Dietz syndrome19Jan 15, 2016
Long QT syndrome55Jan 15, 2016
Long QT syndrome 111Feb 2, 2015
Long QT syndrome 220Jan 15, 2016
Long QT syndrome 31Jan 15, 2016
Marfan syndrome58Jan 15, 2016
Marfanoid habitus8Jan 15, 2016
Mental retardation, autosomal dominant 51Jul 23, 2020
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1Jul 23, 2020
Mowat-Wilson syndrome1Jul 23, 2020
Multiple cafe-au-lait spots1Feb 2, 2015
Multiple congenital anomalies-hypotonia-seizures syndrome 31Jul 23, 2020
Myofibrillar myopathy 11Jan 15, 2016
Nephrotic syndrome1Jan 15, 2016
Neuronal ceroid lipofuscinosis 11Jul 23, 2020
Neuronal ceroid lipofuscinosis 71Jul 23, 2020
Noonan syndrome15Jan 15, 2016
Noonan syndrome with multiple lentigines1Jan 15, 2016
Paroxysmal atrial fibrillation3Jan 15, 2016
Paroxysmal familial ventricular fibrillation 116Jan 15, 2016
Pierson syndrome1Feb 2, 2015
Primary dilated cardiomyopathy199Jan 15, 2016
Primary familial hypertrophic cardiomyopathy349Jan 15, 2016
Primary pulmonary hypertension2Jan 15, 2016
Proteinuria10Jan 15, 2016
Pulmonary valve stenosis (rare)2Feb 2, 2015
Pulmonic stenosis (disease)1Feb 2, 2015
Restrictive cardiomyopathy7Jan 15, 2016
Retinal dystrophy2734Sep 29, 2020
Retinitis pigmentosa 15106Aug 6, 2020
Rett syndrome4Jul 23, 2020
Right ventricular cardiomyopathy1Mar 2, 2015
Severe myoclonic epilepsy in infancy3Jul 23, 2020
Short stature2May 8, 2020
Shprintzen-Goldberg syndrome1Jan 15, 2016
Sick sinus syndrome1Jan 15, 2016
Sitosterolemia1Jan 15, 2016
Skeletal myopathy2Jan 15, 2016
Spastic paraplegia1Jun 24, 2020
Subvalvular aortic stenosis1Feb 2, 2015
Sudden cardiac death14Jan 15, 2016
Supravalvar aortic stenosis1Feb 2, 2015
Telangiectasia, hereditary hemorrhagic, type 21Feb 2, 2015
Timothy syndrome1Jan 15, 2016
Trifascicular block on electrocardiogram1Feb 2, 2015
Tuberous sclerosis 11Jul 23, 2020
Ventricular extrasystoles2Feb 2, 2015
Ventricular fibrillation14Jan 15, 2016
Ventricular septal defect2May 8, 2020
Ventricular tachycardia14Jan 15, 2016
not provided1181May 8, 2019
not specified59Jan 15, 2016
short QT syndrome2Feb 2, 2015

Testing in GTR

Disease nameNumber of tests
ACTH resistance1 test
AICAR transformylase/IMP cyclohydrolase deficiency1 test
Abnormality of neuronal migration1 test
Achromatopsia1 test
Acromesomelic dysplasia, Hunter-Thompson type1 test
Acromesomelic dysplasia, Maroteaux type1 test
Acute pancreatitis1 test
Adams-Oliver syndrome2 tests
Adenine phosphoribosyltransferase deficiency1 test
Adenylosuccinate lyase deficiency1 test
Aicardi Goutieres syndrome2 tests
Alpha-1-antitrypsin deficiency2 tests
Alport syndrome3 tests
Alstrom syndrome1 test
Alternating hemiplegia of childhood1 test
Amelogenesis imperfecta, hypomaturation type IIA51 test
Amelogenesis imperfecta, hypomaturation type IIA61 test
Amelogenesis imperfecta, hypomaturation type, IIA11 test
Amelogenesis imperfecta, hypomaturation type, IIA21 test
Amelogenesis imperfecta, hypomaturation type, IIA31 test
Amelogenesis imperfecta, type 1E1 test
Amelogenesis imperfecta, type IH1 test
Amyotrophic lateral sclerosis1 test
Androgen resistance syndrome1 test
Anophthalmia1 test
Anterior segment anomalies with or without cataract1 test
Aortic aneurysm1 test
Arginase deficiency1 test
Arrhythmogenic right ventricular cardiomyopathy4 tests
Arterial tortuosity1 test
Arterial tortuosity syndrome1 test
Arteriohepatic dysplasia2 tests
Ataxia-oculomotor apraxia type 11 test
Ataxia-telangiectasia syndrome1 test
Atrial fibrillation1 test
Atrial septal defect1 test
Atypical hemolytic uremic syndrome1 test
Autism spectrum disorder1 test
Autosomal recessive polycystic kidney disease2 tests
Bardet-Biedl syndrome3 tests
Bartter syndrome2 tests
Bernard Soulier syndrome2 tests
Bethlem myopathy1 test
Bietti crystalline corneoretinal dystrophy1 test
Biotinidase deficiency1 test
Bloom syndrome2 tests
Brachydactyly1 test
Brugada syndrome3 tests
Carcinoma of pancreas1 test
Cardiac arrhythmia1 test
Cardio-facio-cutaneous syndrome1 test
Cardiomyopathy1 test
Carney complex1 test
Cataract (disease)1 test
Catecholaminergic polymorphic ventricular tachycardia3 tests
Cerebellar ataxia1 test
Cerebral cavernous malformation2 tests
Cerebral creatine deficiency syndrome2 tests
Charcot-Marie-Tooth disease1 test
Cholestasis, intrahepatic, of pregnancy 31 test
Cholestasis, progressive familial intrahepatic 11 test
Cholesteryl ester storage disease1 test
Chondrodysplasia punctata1 test
Choroideremia1 test
Chronic granulomatous disease1 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chronic pancreatitis1 test
Ch├ędiak-Higashi syndrome1 test
Citrullinemia type II1 test
Cleft lip/palate1 test
Cobalamin deficiency1 test
Cockayne syndrome1 test
Coenzyme Q10 deficiency, primary 11 test
Cohen syndrome1 test
Colorectal cancer1 test
Cone-rod dystrophy1 test
Congenital adrenal hyperplasia2 tests
Congenital central hypoventilation1 test
Congenital contractural arachnodactyly1 test
Congenital defect of folate absorption1 test
Congenital disorder of deglycosylation1 test
Congenital disorder of glycosylation3 tests
Congenital generalized lipodystrophy (disease)3 tests
Congenital glucose-galactose malabsorption1 test
Congenital hepatic fibrosis1 test
Congenital hypothyroidism1 test
Congenital ichthyosiform erythroderma1 test
Congenital lactase deficiency1 test
Congenital microvillous atrophy1 test
Congenital muscular dystrophy1 test
Congenital myasthenic syndrome1 test
Congenital neutropenia1 test
Congenital secretory diarrhea, chloride type1 test
Congenital secretory diarrhea, sodium type1 test
Congenital stationary night blindness1 test
Corneal dystrophy1 test
Costello syndrome1 test
Cranioectodermal dysplasia1 test
Craniometaphyseal dysplasia1 test
Craniosynostosis1 test
Crigler-Najjar syndrome type 11 test
Crigler-Najjar syndrome, type II1 test
Crouzon syndrome1 test
Cutis laxa2 tests
Cutis laxa, autosomal dominant 11 test
Cyclical neutropenia1 test
Cystic fibrosis4 tests
Cystinuria3 tests
De Lange syndrome2 tests
Deficiency of beta-ureidopropionase1 test
Deficiency of galactokinase2 tests
Deficiency of xanthine oxidase1 test
Dementia1 test
Dent's disease1 test
Dentinogenesis imperfecta - Shield's type II1 test
Diamond-Blackfan anemia3 tests
Diarrhea 5, with tufting enteropathy, congenital1 test
Diarrhea with Microvillus Atrophy1 test
Dilated cardiomyopathy3 tests
Disorder of fatty acid metabolism1 test
Disorder of organic acid metabolism2 tests
Disorder of the urea cycle metabolism2 tests
Distal arthrogryposis type 1A1 test
Distal myopathy1 test
Dubin-Johnson syndrome1 test
Dyskeratosis congenita1 test
Dystonia1 test
Ebstein anomaly of the tricuspid valve1 test
Ectopia lentis1 test
Ehlers-Danlos syndrome2 tests
Elliptocytosis1 test
Ellis-van Creveld syndrome1 test
Emery-Dreifuss muscular dystrophy1 test
Epidermolysis bullosa1 test
Epilepsy, X-linked, with variable learning disabilities and behavior disorders1 test
Epileptic encephalopathy1 test
Episodic ataxia1 test
Fabry disease1 test
Familial Mediterranean fever1 test
Familial adenomatous polyposis 11 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial cancer of breast1 test
Familial cold autoinflammatory syndrome 21 test
Familial cold autoinflammatory syndrome 31 test
Familial hemiplegic migraine1 test
Familial hemophagocytic lymphohistiocytosis1 test
Familial hypercholesterolemia 12 tests
Familial hyperinsulinism1 test
Familial hypokalemia-hypomagnesemia1 test
Familial medullary thyroid carcinoma1 test
Familial pancreatic carcinoma1 test
Familial partial lipodystrophy2 tests
Familial thoracic aortic aneurysm and aortic dissection1 test
Fanconi anemia4 tests
Female pseudohermaphroditism1 test
Fluorouracil response1 test
Focal epilepsy2 tests
Frontotemporal dementia1 test
Galactosemia2 tests
Ganglioneuroma1 test
Gaucher disease1 test
Generalized epilepsy2 tests
Genetic predisposition4 tests
Gilbert's syndrome1 test
Glanzmann thrombasthenia2 tests
Glaucoma1 test
Glomuvenous malformations1 test
Glycogen storage disease4 tests
Glycogen storage disease, type II1 test
Gorlin syndrome1 test
Gray platelet syndrome1 test
Grebe syndrome1 test
Griscelli syndrome1 test
Growth abnormality1 test
Haddad syndrome1 test
Hemochromatosis type 11 test
Hemochromatosis type 2A1 test
Hemochromatosis type 2B1 test
Hemochromatosis type 31 test
Hemochromatosis type 41 test
Hemolytic-uremic syndrome1 test
Hemophilia1 test
Hereditary Cancer Syndrome1 test
Hereditary Paraganglioma-Pheochromocytoma Syndromes3 tests
Hereditary acrodermatitis enteropathica1 test
Hereditary breast and ovarian cancer syndrome1 test
Hereditary diffuse gastric cancer1 test
Hereditary disease4 tests
Hereditary factor IX deficiency disease1 test
Hereditary factor VIII deficiency disease1 test
Hereditary fructosuria2 tests
Hereditary hemochromatosis2 tests
Hereditary hemorrhagic telangiectasia type 12 tests
Hereditary hemorrhagic telangiectasia type 31 test
Hereditary leiomyomatosis and renal cell cancer1 test
Hereditary palmoplantar keratoderma1 test
Hereditary spherocytosis1 test
Hermansky-Pudlak syndrome4 tests
Heterotaxia1 test
Hidrotic ectodermal dysplasia syndrome1 test
Hirschsprung disease2 tests
Holoprosencephaly sequence1 test
Holt-Oram syndrome1 test
Homocystinuria2 tests
Hoyeraal-Hreidarsson syndrome1 test
Hurler syndrome1 test
Hutchinson-Gilford syndrome1 test
Hyperimmunoglobulin D with periodic fever1 test
Hyperoxaluria2 tests
Hyperparathyroidism1 test
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency1 test
Hyperphenylalaninemia, non-pku1 test
Hypertrophic cardiomyopathy3 tests
Hypogonadism with anosmia1 test
Hypohidrotic ectodermal dysplasia1 test
Hypomagnesemia 1, intestinal1 test
Hypomagnesemia 4, renal1 test
Hypomagnesemia 5, renal, with ocular involvement1 test
Hypomagnesemia 6, renal1 test
Hypomagnesemia, seizures, and mental retardation 11 test
Hypophosphatasia1 test
Hypophosphatemic rickets2 tests
Hypoplastic left heart syndrome 11 test
Idiopathic fibrosing alveolitis, chronic form2 tests
Infantile Refsum's disease1 test
Infertility1 test
Inherited bone marrow failure syndrome2 tests
Intestinal atresia1 test
Jeune thoracic dystrophy1 test
Joubert syndrome3 tests
Junctional epidermolysis bullosa, non-Herlitz type1 test
Juvenile hemochromatosis1 test
Juvenile polyposis syndrome1 test
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1 test
Juvenile retinoschisis1 test
Kabuki syndrome1 test
Keratosis palmoplantaris papulosa1 test
Lafora disease1 test
Lamellar ichthyosis1 test
Leber congenital amaurosis1 test
Left ventricular noncompaction3 tests
Lesch-Nyhan syndrome1 test
Leukemia2 tests
Leukodystrophy1 test
Leukoencephalopathy1 test
Li-Fraumeni syndrome3 tests
Liddle syndrome 11 test
Limb-girdle muscular dystrophy1 test
Lissencephaly1 test
Loeys-Dietz syndrome1 test
Long QT syndrome3 tests
Lung cancer1 test
Lymphangiomyomatosis1 test
Lymphatic malformation1 test
Lymphoproliferative syndrome1 test
Lynch syndrome2 tests
Macrocephalus1 test
Macular dystrophy1 test
Male pseudohermaphroditism1 test
Maple syrup urine disease1 test
Marfan syndrome1 test
Maturity onset diabetes mellitus in young1 test
Meckel-Gruber syndrome2 tests
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
Medulloblastoma1 test
Meier-Gorlin syndrome3 tests
Melanoma1 test
Melnick-Fraser syndrome3 tests
Metabolic myopathy1 test
Metaphyseal anadysplasia 21 test
Metaphyseal chondrodysplasia1 test
Metaphyseal chondrodysplasia, Schmid type1 test
Methylmalonic acidemia1 test
Microcephalic osteodysplastic primordial dwarfism type II1 test
Microcephalic osteodysplastic primordial dwarfism, type 31 test
Microcephaly1 test
Microcephaly with mental retardation and digital anomalies1 test
Microcephaly, normal intelligence and immunodeficiency1 test
Microcephaly-capillary malformation syndrome1 test
Microphthalmia1 test
Miller syndrome1 test
Mitochondrial DNA depletion syndrome 1 (MNGIE type)1 test
Mitochondrial DNA depletion syndrome 111 test
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1 test
Mitochondrial DNA depletion syndrome 21 test
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1 test
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome, hepatocerebral form1 test
Mitochondrial DNA-depletion syndrome 3, hepatocerebral1 test
Mucolipidosis type II1 test
Mucolipidosis type IV1 test
Mucopolysaccharidosis1 test
Multiple acyl-CoA dehydrogenase deficiency1 test
Multiple congenital exostosis1 test
Multiple endocrine neoplasia3 tests
Multiple fibrofolliculomas3 tests
Muscle AMP deaminase deficiency1 test
Muscular dystrophy1 test
Navajo neurohepatopathy1 test
Nemaline myopathy1 test
Neonatal adrenoleucodystrophy1 test
Neonatal diabetes mellitus1 test
Neoplasm of the skin1 test
Nephrogenic diabetes insipidus1 test
Nephrolithiasis/nephrocalcinosis1 test
Nephronophthisis1 test
Nephrotic syndrome1 test
Neuroblastoma1 test
Neurofibromas1 test
Neurofibromatosis, type 11 test
Neurofibromatosis, type 21 test
Neuronal ceroid lipofuscinosis1 test
Niemann-Pick disease, type A2 tests
Niemann-Pick disease, type B2 tests
Niemann-Pick disease, type C2 tests
Niemann-Pick disease, type D1 test
Non-ketotic hyperglycinemia2 tests
Non-syndromic X-linked intellectual disability1 test
Non-syndromic syndactyly1 test
Nonsyndromic hearing loss and deafness2 tests
Noonan syndrome3 tests
Noonan syndrome with multiple lentigines1 test
Nystagmus1 test
Obesity1 test
Oculocutaneous albinism1 test
Optic atrophy2 tests
Ornithine carbamoyltransferase deficiency1 test
Orotic aciduria1 test
Osteodysplastic primordial dwarfism, type 11 test
Osteogenesis imperfecta1 test
Osteopetrosis1 test
POLG-related disorders1 test
Pachyonychia congenita syndrome2 tests
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques1 test
Parkinson disease1 test
Paroxysmal atrial fibrillation1 test
Pendred syndrome3 tests
Periodic paralysis1 test
Permanent atrial fibrillation1 test
Peroxisome biogenesis disorder 1A (Zellweger)2 tests
Persistent fetal circulation syndrome1 test
Peutz-Jeghers syndrome2 tests
Phenylketonuria2 tests
Polycystic kidney disease, autosomal dominant3 tests
Polycystic liver disease1 test
Polymicrogyria, bilateral frontoparietal1 test
Pontoneocerebellar hypoplasia1 test
Porphyria1 test
Premature ovarian failure1 test
Primary ciliary dyskinesia5 tests
Primary hypomagnesemia1 test
Progressive external ophthalmoplegia1 test
Progressive myoclonic epilepsy2 tests
Progressive sclerosing poliodystrophy1 test
Prolactin-producing pituitary gland adenoma1 test
Propionic acidemia1 test
Pseudo-Hurler polydystrophy1 test
Pseudohypoaldosteronism1 test
Pulmonary artery stenosis1 test
Pulmonary surfactant metabolism dysfunction1 test
Pulmonary venoocclusive disease 1, autosomal dominant1 test
Purine-nucleoside phosphorylase deficiency1 test
Pyle metaphyseal dysplasia1 test
Pyridoxine-dependent epilepsy1 test
Renal cell carcinoma, papillary, 11 test
Renal cyst4 tests
Renal dysplasia1 test
Renal dysplasia and retinal aplasia2 tests
Renal hypomagnesemia 21 test
Renal tubular acidosis1 test
Respiratory distress syndrome in premature infants1 test
Restrictive cardiomyopathy3 tests
Retinal dystrophy1 test
Retinitis pigmentosa1 test
Retinitis pigmentosa-deafness syndrome3 tests
Retinoblastoma2 tests
Revesz syndrome1 test
Rhabdomyolysis1 test
Rhizomelic chondrodysplasia punctata1 test
Robinow syndrome, autosomal dominant 11 test
Rothmund-Thomson syndrome1 test
Seckel syndrome3 tests
Sensorineural hearing loss2 tests
Septo-optic dysplasia sequence1 test
Severe combined immunodeficiency disease2 tests
Severe combined immunodeficiency due to ADA deficiency1 test
Severe short stature1 test
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis1 test
Shprintzen-Goldberg syndrome1 test
Sialidosis type 21 test
Sialuria1 test
Simpson-Golabi-Behmel syndrome1 test
Sitosterolemia1 test
Skeletal dysplasia3 tests
Spastic paraplegia1 test
Spinal muscular atrophy1 test
Spinocerebellar ataxia, autosomal recessive 101 test
Split-hand/foot malformation 1 with sensorineural hearing loss1 test
Spondylometaphyseal dysplasia, Kozlowski type1 test
Stickler syndrome3 tests
Stomatin-deficient cryohydrocytosis with neurologic defects1 test
Stomatocytosis1 test
Succinate-semialdehyde dehydrogenase deficiency1 test
Sucrase-isomaltase deficiency1 test
Sudden cardiac death2 tests
Supravalvar aortic stenosis1 test
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Telangiectasia, hereditary hemorrhagic, type 21 test
Tetralogy of Fallot1 test
Thiopurine methyltransferase deficiency1 test
Three M syndrome2 tests
Thrombocytopenia1 test
Thyroid hormone resistance syndrome1 test
Trichohepatoenteric syndrome1 test
Tuberous sclerosis syndrome4 tests
Tyrosinemia type 31 test
Tyrosinemia type I2 tests
Tyrosinemia type II1 test
UDPglucose-4-epimerase deficiency2 tests
Ullrich congenital muscular dystrophy1 test
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to1 test
Ventricular septal defect1 test
Vitreoretinopathy1 test
Von Hippel-Lindau syndrome4 tests
Waardenburg syndrome4 tests
Weill-Marchesani syndrome1 test
Werner syndrome1 test
Wilms tumor 11 test
Wilson disease1 test
Wiskott-Aldrich syndrome1 test
Wolman disease1 test
Xanthinuria type II1 test
Xeroderma pigmentosum1 test
short QT syndrome3 tests
von Willebrand disease type 11 test
von Willebrand disorder1 test
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