ARUP Laboratories, Molecular Genetics and Genomics (ARUP Laboratories)

General information

ARUP Laboratories, Molecular Genetics and Genomics
ARUP Laboratories
500 Chipeta Way
Salt Lake City
Utah
United States - 84108
http://www.aruplab.com/genetics
Organization ID: 25969

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 6274

Gene

GeneSubmissionsLast Updated
AARS4Oct 10, 2018
ABCA418Oct 10, 2018
ABCB71Jun 30, 2017
ABCC97Oct 10, 2018
ABCD114Oct 10, 2018
ABCD41Oct 10, 2018
ACAD93Oct 10, 2018
ACADL1Jun 30, 2017
ACADM90Oct 10, 2018
ACADS2Oct 10, 2018
ACADVL64Oct 10, 2018
ACAT11Oct 10, 2018
ACSF34Oct 10, 2018
ACTA21Oct 10, 2018
ACTG13Oct 10, 2018
ACTN24Oct 10, 2018
ACVRL165Oct 10, 2018
ADA7Oct 10, 2018
ADGRV128Oct 10, 2018
AGL2Jun 30, 2017
AICDA2Oct 10, 2018
AIPL15Oct 10, 2018
AK13Oct 10, 2018
AKAP926Oct 10, 2018
ALG111Oct 10, 2018
ALK6Oct 10, 2018
ALPL7Oct 10, 2018
ALS25Oct 10, 2018
AMER11Oct 10, 2018
AMN4Oct 10, 2018
ANK124Oct 10, 2018
ANK217Oct 10, 2018
APC64Oct 10, 2018
APTX3Oct 10, 2018
ARHGEF108Oct 10, 2018
ARSE3Oct 10, 2018
ASH1L1Feb 13, 2018
ASS17Oct 10, 2018
ATL11Oct 10, 2018
ATM46Oct 10, 2018
ATP7A9Oct 10, 2018
ATP7B60Oct 10, 2018
ATPAF25Oct 10, 2018
ATRX2Oct 10, 2018
BAG35Oct 10, 2018
BAP13Oct 10, 2018
BARD18Oct 10, 2018
BCKDHA3Oct 10, 2018
BCKDHB1Oct 10, 2018
BCS1L1Jun 30, 2017
BEST16Oct 10, 2018
BICD25Oct 10, 2018
BLNK4Oct 10, 2018
BMPR1A9Oct 10, 2018
BMPR212Oct 10, 2018
BRAF4Jun 30, 2017
BRCA1105Oct 10, 2018
BRCA2238Oct 10, 2018
BRIP115Oct 10, 2018
BSCL24Oct 10, 2018
BTD13Oct 10, 2018
BTK3Oct 10, 2018
CA43Oct 10, 2018
CACNA1A2Oct 10, 2018
CACNA1C8Oct 10, 2018
CACNA1C-AS11Oct 10, 2018
CACNA1S1Oct 10, 2018
CACNB22Oct 10, 2018
CASK1Oct 10, 2018
CASQ22Oct 10, 2018
CAV13Oct 10, 2018
CAV35Oct 10, 2018
CBL2Jun 30, 2017
CBLIF4Oct 10, 2018
CBS17Oct 10, 2018
CCDC502Oct 10, 2018
CCM26Oct 10, 2018
CCT52Oct 10, 2018
CD197Oct 10, 2018
CD3201Jun 30, 2017
CD403Oct 10, 2018
CD40LG7Oct 10, 2018
CD79A2Jun 30, 2017
CD811Jun 30, 2017
CDAN12Oct 10, 2018
CDH116Oct 10, 2018
CDH2323Oct 10, 2018
CDHR13Jun 30, 2017
CDKN1B2Oct 10, 2018
CDKN2A2Oct 10, 2018
CEACAM161Oct 10, 2018
CEP2907Oct 10, 2018
CFTR174Dec 7, 2018
CHD719Oct 10, 2018
CHEK26Oct 10, 2018
CHRNG1Oct 10, 2018
CLN62Jun 30, 2017
CLRN12Oct 10, 2018
CNGB18Oct 10, 2018
COCH6Oct 10, 2018
COL11A210Oct 10, 2018
COL1A128Oct 10, 2018
COL1A217Oct 10, 2018
COL2A122Oct 10, 2018
COL3A135Oct 10, 2018
COL4A516Oct 10, 2018
COL5A158Oct 10, 2018
COL5A230Oct 10, 2018
COMP6Oct 10, 2018
COQ23Oct 10, 2018
COQ8A3Oct 10, 2018
COQ93Oct 10, 2018
CORIN4Oct 10, 2018
COX101Oct 10, 2018
COX152Oct 10, 2018
COX4I21Oct 10, 2018
CPT1A7Oct 10, 2018
CPT22Oct 10, 2018
CR28Oct 10, 2018
CRB14Oct 10, 2018
CRTAP4Oct 10, 2018
CRX3Oct 10, 2018
CRYM1Oct 10, 2018
CSRP31Jun 30, 2017
CTC111Jun 30, 2017
CTF11Oct 10, 2018
CTNS2Oct 10, 2018
CTRC39Oct 10, 2018
CUBN25Oct 10, 2018
CYB5R32Jun 30, 2017
CYBB1Oct 10, 2018
CYCS1Jun 30, 2017
DARS21Jun 30, 2017
DBT3Oct 10, 2018
DCLRE1C2Jun 30, 2017
DCTN15Oct 10, 2018
DES3Oct 10, 2018
DGUOK2Oct 10, 2018
DHCR717Oct 10, 2018
DHTKD16Oct 10, 2018
DIAPH11Oct 10, 2018
DISP111Oct 10, 2018
DKC11Jun 30, 2017
DLAT2Jun 30, 2017
DLD3Oct 10, 2018
DLL37Oct 10, 2018
DMD83Oct 10, 2018
DNAJB22Oct 10, 2018
DNM1L1Oct 10, 2018
DNM23Oct 10, 2018
DNMT110Oct 10, 2018
DSC22Oct 10, 2018
DSG218Oct 10, 2018
DSP16Oct 10, 2018
DSPP1Oct 10, 2018
DTNA2Oct 10, 2018
DYNC1H18Oct 10, 2018
DYNC2H150Oct 10, 2018
EBP4Oct 10, 2018
EDA3Oct 10, 2018
EDAR2Oct 10, 2018
EDARADD4Oct 10, 2018
EFEMP29Oct 10, 2018
EGR23Oct 10, 2018
EIF2AK415Oct 10, 2018
ELANE9Oct 10, 2018
ELP114Oct 10, 2018
EMD2Oct 10, 2018
ENG68Oct 10, 2018
EPB414Oct 10, 2018
EPB428Oct 10, 2018
EPHB41Oct 10, 2018
ESPN1Oct 10, 2018
ESRRB3Oct 10, 2018
ETFB2Oct 10, 2018
EVC17Oct 10, 2018
EVC225Oct 10, 2018
EYA42Oct 10, 2018
EYS9Oct 10, 2018
F864Oct 10, 2018
F910Oct 10, 2018
FANCA21Jun 30, 2017
FANCB2Jun 30, 2017
FANCC1Jun 30, 2017
FANCD216Jun 30, 2017
FANCE2Jun 30, 2017
FANCG2Jun 30, 2017
FANCI8Jun 30, 2017
FANCL3Jun 30, 2017
FANCM8Jun 30, 2017
FASTKD21Oct 10, 2018
FBLN52Oct 10, 2018
FBN1116Oct 10, 2018
FBN248Oct 10, 2018
FGD45Oct 10, 2018
FGFR17Oct 10, 2018
FGFR23Oct 10, 2018
FGFR314Oct 10, 2018
FH2Oct 10, 2018
FIG45Oct 10, 2018
FKBP106Oct 10, 2018
FKRP7Oct 10, 2018
FKTN2Oct 10, 2018
FLCN13Oct 10, 2018
FLNA47Oct 10, 2018
FLNB25Oct 10, 2018
FOXH12Oct 10, 2018
FOXN12Jun 30, 2017
FSCN21Oct 10, 2018
FTH11Oct 10, 2018
FXN3Oct 10, 2018
G6PC1Jun 30, 2017
G6PD23Oct 10, 2018
GAA5Oct 10, 2018
GALC1Jun 30, 2017
GALNS1Jun 30, 2017
GALT30Oct 10, 2018
GAMT2Oct 10, 2018
GAN4Oct 10, 2018
GBE11Jun 30, 2017
GCLC3Oct 10, 2018
GDAP11Oct 10, 2018
GDF23Oct 10, 2018
GFM15Oct 10, 2018
GJB13Oct 10, 2018
GJB240Oct 10, 2018
GJB35Oct 10, 2018
GLA3Oct 10, 2018
GLB11Jun 30, 2017
GLI212Oct 10, 2018
GLI35Oct 10, 2018
GLMN4Oct 10, 2018
GNPAT10Oct 10, 2018
GNPTAB1Jun 30, 2017
GP61Oct 10, 2018
GPD1L1Jun 30, 2017
GPI2Jun 30, 2017
GPSM23Oct 10, 2018
GSR5Oct 10, 2018
GSS4Oct 10, 2018
GUCY2D3Oct 10, 2018
GUSB1Oct 10, 2018
HADH1Oct 10, 2018
HADHA2Oct 10, 2018
HARS3Oct 10, 2018
HARS21Oct 10, 2018
HBA114Oct 10, 2018
HBA221Oct 10, 2018
HBB102Oct 10, 2018
HCFC13Oct 10, 2018
HEXA8Oct 10, 2018
HGSNAT1Jun 30, 2017
HK110Oct 10, 2018
HMGCS23Oct 10, 2018
HNRNPUL2-BSCL21Jun 30, 2017
HOXD102Oct 10, 2018
HRAS4Oct 10, 2018
HSD17B43Oct 10, 2018
HSPB13Oct 10, 2018
HSPB31Oct 10, 2018
HSPB81Jun 30, 2017
HSPG270Oct 10, 2018
HTR2B1Oct 10, 2018
ICOS3Oct 10, 2018
IDH3B1Oct 10, 2018
IDUA2Oct 10, 2018
IFT805Oct 10, 2018
IGHM1Jun 30, 2017
IGHMBP215Oct 10, 2018
IGLL110Oct 10, 2018
IKBKG2Oct 10, 2018
ILK2Oct 10, 2018
IMPDH11Oct 10, 2018
INF210Oct 10, 2018
INSR23Oct 10, 2018
ISCU1Oct 10, 2018
JAK31Jun 30, 2017
JPH22Oct 10, 2018
JUP5Oct 10, 2018
KARS2Oct 10, 2018
KAT6B5Oct 10, 2018
KCNE11Oct 10, 2018
KCNE21Oct 10, 2018
KCNE32Oct 10, 2018
KCNH29Oct 10, 2018
KCNJ22Oct 10, 2018
KCNK32Oct 10, 2018
KCNQ110Oct 10, 2018
KCNQ21Oct 10, 2018
KCNQ41Oct 10, 2018
KIAA07532Jun 30, 2017
KIF1A8Oct 10, 2018
KIF1B2Oct 10, 2018
KIF5A5Oct 10, 2018
KLHL31Oct 10, 2018
KMT2D9Oct 10, 2018
KRAS3Oct 10, 2018
KRIT18Oct 10, 2018
LAMA46Oct 10, 2018
LAMP21Oct 10, 2018
LARS25Oct 10, 2018
LBR10Oct 10, 2018
LDB32Oct 10, 2018
LIFR11Oct 10, 2018
LIG41Oct 10, 2018
LITAF2Oct 10, 2018
LMBRD11Oct 10, 2018
LMNA12Oct 10, 2018
LPIN222Oct 10, 2018
LRBA19Oct 10, 2018
LRPPRC6Oct 10, 2018
LRRC8A5Oct 10, 2018
LRSAM12Oct 10, 2018
MAN2B11Jun 30, 2017
MAP2K24Oct 10, 2018
MARS6Oct 10, 2018
MASP11Oct 10, 2018
MAT1A1Oct 10, 2018
MCCC21Oct 10, 2018
MCEE1Oct 10, 2018
MECP219Oct 10, 2018
MED253Oct 10, 2018
MEFV59Oct 10, 2018
MEN130Oct 10, 2018
MERTK5Oct 10, 2018
MET5Oct 10, 2018
MFN25Oct 10, 2018
MID11Jun 30, 2017
MLH117Oct 10, 2018
MMAA2Jun 30, 2017
MMAB4Oct 10, 2018
MMACHC6Oct 10, 2018
MMADHC1Oct 10, 2018
MMUT6Oct 10, 2018
MPV171Oct 10, 2018
MPZ1Oct 10, 2018
MRE118Oct 10, 2018
MRPS221Oct 10, 2018
MS4A11Oct 10, 2018
MSH229Oct 10, 2018
MSH633Oct 10, 2018
MT-ATP61Oct 10, 2018
MT-CO21Jun 30, 2017
MT-CO32Oct 10, 2018
MT-ND12Oct 10, 2018
MT-ND32Oct 10, 2018
MT-ND41Oct 10, 2018
MT-ND61Oct 10, 2018
MT-TC1Oct 10, 2018
MT-TI1Oct 10, 2018
MT-TK1Oct 10, 2018
MT-TL12Oct 10, 2018
MTHFR7Oct 10, 2018
MTMR24Oct 10, 2018
MTR4Oct 10, 2018
MTRR7Oct 10, 2018
MUTYH14Oct 10, 2018
MVK20Oct 10, 2018
MYBPC312Oct 10, 2018
MYH103Oct 10, 2018
MYH1148Oct 10, 2018
MYH1419Oct 10, 2018
MYH612Oct 10, 2018
MYH713Oct 10, 2018
MYH91Jun 30, 2017
MYL21Jun 30, 2017
MYL31Oct 10, 2018
MYLK44Oct 10, 2018
MYLK21Oct 10, 2018
MYO15A29Oct 10, 2018
MYO1A4Oct 10, 2018
MYO3A10Oct 10, 2018
MYO66Oct 10, 2018
MYO7A11Oct 10, 2018
MYOT2Oct 10, 2018
MYPN4Oct 10, 2018
NBN10Oct 10, 2018
NDE112Oct 10, 2018
NDRG11Oct 10, 2018
NDUFA11Oct 10, 2018
NDUFA111Oct 10, 2018
NDUFAF11Oct 10, 2018
NDUFAF21Oct 10, 2018
NDUFAF42Oct 10, 2018
NDUFAF52Oct 10, 2018
NDUFS12Oct 10, 2018
NDUFS21Oct 10, 2018
NDUFS31Oct 10, 2018
NDUFS41Oct 10, 2018
NDUFS71Oct 10, 2018
NDUFV22Oct 10, 2018
NEFL4Oct 10, 2018
NEK113Oct 10, 2018
NEXN2Oct 10, 2018
NF1133Oct 10, 2018
NFKB24Oct 10, 2018
NFKBIA6Oct 10, 2018
NGF2Oct 10, 2018
NHS2Jun 30, 2017
NLGN4X2Oct 10, 2018
NLRP326Oct 10, 2018
NODAL2Oct 10, 2018
NPC13Jun 30, 2017
NR2E34Oct 10, 2018
NT5C3A2Oct 10, 2018
NTRK14Oct 10, 2018
OBSCN8Oct 10, 2018
OCRL1Jun 30, 2017
OPA14Oct 10, 2018
OPTN1Oct 10, 2018
OTC9Oct 10, 2018
OTOA2Oct 10, 2018
OTOF11Oct 10, 2018
OXCT13Oct 10, 2018
P3H111Oct 10, 2018
PALB216Oct 10, 2018
PC4Oct 10, 2018
PCARE6Oct 10, 2018
PCCA1Oct 10, 2018
PCCB4Oct 10, 2018
PCDH1516Oct 10, 2018
PCDH192Oct 10, 2018
PCK26Oct 10, 2018
PDCD101Jun 30, 2017
PDE6A4Oct 10, 2018
PDK32Oct 10, 2018
PDSS11Oct 10, 2018
PEX72Oct 10, 2018
PFKL6Oct 10, 2018
PFKM7Oct 10, 2018
PHOX2B2Oct 10, 2018
PIEZO158Oct 10, 2018
PIK3CD7Oct 10, 2018
PIK3R16Oct 10, 2018
PINK15Oct 10, 2018
PJVK1Oct 10, 2018
PKD1247Oct 10, 2018
PKD230Oct 10, 2018
PKLR6Oct 10, 2018
PKP26Oct 10, 2018
PLCG223Oct 10, 2018
PLEKHG510Oct 10, 2018
PLOD121Oct 10, 2018
PLOD318Oct 10, 2018
PMP222Oct 10, 2018
PMS232Oct 10, 2018
POLG12Oct 10, 2018
POLG22Oct 10, 2018
POR12Oct 10, 2018
POU4F31Oct 10, 2018
PPIB1Jun 30, 2017
PRCD1Oct 10, 2018
PRKCD2Oct 10, 2018
PRKDC4Jun 30, 2017
PRKG110Oct 10, 2018
PROM11Oct 10, 2018
PRPS11Oct 10, 2018
PRSS128Oct 10, 2018
PRX6Oct 10, 2018
PSAP1Oct 10, 2018
PSTPIP126Oct 10, 2018
PTCH15Oct 10, 2018
PTCHD13Oct 10, 2018
PTEN24Oct 10, 2018
PTPN1153Oct 10, 2018
PTPRC13Oct 10, 2018
PUS13Oct 10, 2018
PYGL1Jun 30, 2017
RAB40AL5Oct 10, 2018
RAD51D4Oct 10, 2018
RAF14Oct 10, 2018
RAG11Oct 10, 2018
RAG23Oct 10, 2018
RARS25Oct 10, 2018
RASA119Oct 10, 2018
RB12Oct 10, 2018
RBM208Oct 10, 2018
RET37Oct 10, 2018
RETREG14Oct 10, 2018
RHO2Oct 10, 2018
RIT13Oct 10, 2018
RMRP1Jun 30, 2017
RP15Oct 10, 2018
RP92Oct 10, 2018
RPGR1Oct 10, 2018
RPGRIP12Oct 10, 2018
RPL36A-HNRNPH21Oct 10, 2018
RPL51Jun 30, 2017
RPS152Jun 30, 2017
RPS191Jun 30, 2017
RPS241Jun 30, 2017
RPS6KA31Oct 10, 2018
RPS71Jun 30, 2017
RRM2B1Jun 30, 2017
RUNX11Oct 10, 2018
RUNX23Oct 10, 2018
RYR12Oct 10, 2018
RYR215Oct 10, 2018
SBDS6Jun 30, 2017
SBF115Oct 10, 2018
SBF24Oct 10, 2018
SCN1B1Oct 10, 2018
SCN3B2Oct 10, 2018
SCN5A8Oct 10, 2018
SCN9A17Oct 10, 2018
SCO11Oct 10, 2018
SCO24Oct 10, 2018
SDHA12Oct 10, 2018
SDHAF11Oct 10, 2018
SDHB13Oct 10, 2018
SDHC4Oct 10, 2018
SDHD9Oct 10, 2018
SERPINH16Oct 10, 2018
SETX14Oct 10, 2018
SGCA3Oct 10, 2018
SH3TC27Oct 10, 2018
SHH1Jun 30, 2017
SHOC23Oct 10, 2018
SIX31Jun 30, 2017
SKI16Oct 10, 2018
SLC12A63Jun 30, 2017
SLC17A51Jun 30, 2017
SLC22A520Oct 10, 2018
SLC25A132Oct 10, 2018
SLC25A151Oct 10, 2018
SLC25A193Oct 10, 2018
SLC25A201Jun 30, 2017
SLC25A226Oct 10, 2018
SLC25A31Oct 10, 2018
SLC25A41Oct 10, 2018
SLC26A210Oct 10, 2018
SLC26A420Oct 10, 2018
SLC26A53Oct 10, 2018
SLC2A1014Oct 10, 2018
SLC35D12Oct 10, 2018
SLC3A13Oct 10, 2018
SLC4A19Oct 10, 2018
SLC5A74Oct 10, 2018
SLC6A83Jun 30, 2017
SLCO1B113Oct 10, 2018
SLCO1B311Oct 10, 2018
SLX422Jun 30, 2017
SMAD38Oct 10, 2018
SMAD410Oct 10, 2018
SMARCB11Jun 30, 2017
SMC1A1Jun 30, 2017
SMPD12Jun 30, 2017
SNRNP2002Oct 10, 2018
SNTA16Oct 10, 2018
SOD11Jun 30, 2017
SOS133Oct 10, 2018
SOX910Oct 10, 2018
SPG71Oct 10, 2018
SPINK124Oct 10, 2018
SPRED13Oct 10, 2018
SPTA147Oct 10, 2018
SPTB27Oct 10, 2018
SPTLC11Oct 10, 2018
SPTLC23Oct 10, 2018
STK118Oct 10, 2018
STRC6Oct 10, 2018
SUCLA23Oct 10, 2018
SUCLG15Oct 10, 2018
SUFU4Oct 10, 2018
SUOX3Oct 10, 2018
SURF11Jun 30, 2017
SYNE137Oct 10, 2018
TAZ1Jun 30, 2017
TBC1D241May 27, 2015
TCAP2Oct 10, 2018
TCIRG11Oct 10, 2018
TCN14Oct 10, 2018
TCN29Oct 10, 2018
TDGF11Oct 10, 2018
TDP13Oct 10, 2018
TECTA11Oct 10, 2018
TEK12Oct 10, 2018
TERC3Jun 30, 2017
TERT7Jun 30, 2017
TFG4Oct 10, 2018
TGFB25Oct 10, 2018
TGFB31Oct 10, 2018
TGFBR18Oct 10, 2018
TGFBR29Oct 10, 2018
TGIF15Oct 10, 2018
TINF22Jun 30, 2017
TMC12Oct 10, 2018
TMEM1271Oct 10, 2018
TMEM433Oct 10, 2018
TMEM701Oct 10, 2018
TMIE2Oct 10, 2018
TMPO4Oct 10, 2018
TMPRSS34Oct 10, 2018
TNFRSF13B14Oct 10, 2018
TNFRSF13C4Oct 10, 2018
TNFRSF1A10Oct 10, 2018
TNNT21Oct 10, 2018
TOPORS2Oct 10, 2018
TP5322Oct 10, 2018
TPI11Oct 10, 2018
TPM12Jun 30, 2017
TPRN2Oct 10, 2018
TRIM23Oct 10, 2018
TRIOBP3Oct 10, 2018
TRIP1118Oct 10, 2018
TRMU4Oct 10, 2018
TRPM48Oct 10, 2018
TRPV418Oct 10, 2018
TSC16Oct 10, 2018
TSC219Oct 10, 2018
TSPAN71Oct 10, 2018
TTC21B14Oct 10, 2018
TTN73Oct 10, 2018
TTR13Oct 10, 2018
TULP13Oct 10, 2018
TYMP3Oct 10, 2018
UBE2A1Jun 30, 2017
UBE3A1Oct 10, 2018
UGT1A14Oct 10, 2018
UGT1A68Oct 10, 2018
UGT1A710Oct 10, 2018
UGT1A81Oct 10, 2018
UNG1Oct 10, 2018
UQCRQ1Oct 10, 2018
USH1C7Oct 10, 2018
USH1G3Oct 10, 2018
USH2A48Oct 10, 2018
VAV18Oct 10, 2018
VCL6Oct 10, 2018
VCP2Jun 30, 2017
VHL7Oct 10, 2018
VWF48Oct 10, 2018
WASHC41Oct 10, 2018
WDR1913Oct 10, 2018
WDR3510Oct 10, 2018
WFS128Oct 10, 2018
WHRN7Oct 10, 2018
WNK17Oct 10, 2018
WRAP536Jun 30, 2017
YARS2Oct 10, 2018
ZIC21Jun 30, 2017

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 21 test
ANKRD1-related dilated cardiomyopathy1 test
Abacavir hypersensitivity1 test
Acetaminophen metabolism1 test
Achondrogenesis, type IA2 tests
Achondrogenesis, type IB2 tests
Achondrogenesis, type II2 tests
Achondroplasia4 tests
Acromicric dysplasia3 tests
Acute neuronopathic Gaucher's disease1 test
Adenosine deaminase, elevated, hemolytic anemia due to1 test
Adenylate kinase deficiency, hemolytic anemia due to1 test
Adrenoleukodystrophy3 tests
Agammaglobulinemia 2, autosomal recessive1 test
Agammaglobulinemia 3, autosomal recessive1 test
Agammaglobulinemia 4, autosomal recessive1 test
Agammaglobulinemia 5, autosomal dominant1 test
Agammaglobulinemia 6, autosomal recessive1 test
Agammaglobulinemia 7, autosomal recessive1 test
Agammaglobulinemia, non-Bruton type1 test
Age-related macular degeneration 21 test
Allopurinol response1 test
Alpha-1-antitrypsin deficiency1 test
Alport syndrome 1, X-linked recessive3 tests
Alzheimer's disease1 test
Aminoglycoside-induced deafness2 tests
Amyloidogenic transthyretin amyloidosis2 tests
Andermann syndrome2 tests
Andersen Tawil syndrome1 test
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
Angelman syndrome3 tests
Angelman syndrome-like3 tests
Ankylosing spondylitis1 test
Antley-Bixler syndrome2 tests
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Aortic aneurysm, familial thoracic 81 test
Arginine:glycine amidinotransferase deficiency1 test
Arrhythmogenic right ventricular cardiomyopathy1 test
Arrhythmogenic right ventricular cardiomyopathy, type 101 test
Arrhythmogenic right ventricular cardiomyopathy, type 111 test
Arrhythmogenic right ventricular cardiomyopathy, type 121 test
Arrhythmogenic right ventricular cardiomyopathy, type 51 test
Arrhythmogenic right ventricular cardiomyopathy, type 81 test
Arrhythmogenic right ventricular cardiomyopathy, type 91 test
Arrhythmogenic right ventricular dysplasia, familial 11 test
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair1 test
Arrhythmogenic right ventricular dysplasia, familial, 21 test
Arterial tortuosity syndrome1 test
Ashkenazi Jewish disorders1 test
Asphyxiating thoracic dystrophy 22 tests
Asphyxiating thoracic dystrophy 42 tests
Ataxia-telangiectasia syndrome2 tests
Ataxia-telangiectasia-like disorder 11 test
Atelosteogenesis2 tests
Atrial fibrillation, familial, 101 test
Atrial fibrillation, familial, 121 test
Atrial fibrillation, familial, 131 test
Atrial fibrillation, familial, 141 test
Atrial fibrillation, familial, 31 test
Atrial fibrillation, familial, 91 test
Attenuated FAP1 test
Atypical Rett syndrome3 tests
Autism spectrum disorder1 test
Autism, susceptibility to, X-linked 31 test
Autoimmune lymphoproliferative syndrome, type III1 test
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated1 test
Autosomal recessive axonal neuropathy with neuromyotonia2 tests
Autosomal recessive cutis laxa type 1B1 test
Bannayan-Riley-Ruvalcaba syndrome4 tests
Becker muscular dystrophy5 tests
Benign scapuloperoneal muscular dystrophy with cardiomyopathy3 tests
Bent bone dysplasia syndrome2 tests
Bestrophinopathy, autosomal recessive1 test
Beta thalassemia intermedia2 tests
Beta thalassemia major2 tests
Beta thalassemia minor2 tests
Biotinidase deficiency2 tests
Bloom syndrome2 tests
Bone fragility with contractures, arterial rupture, and deafness1 test
Bothnia retinal dystrophy1 test
Breast cancer, early-onset3 tests
Breast cancer, familial male3 tests
Breast cancer, susceptibility to3 tests
Breast-ovarian cancer, familial 13 tests
Breast-ovarian cancer, familial 22 tests
Breast-ovarian cancer, familial 32 tests
Breast-ovarian cancer, familial 42 tests
Bronchiectasis with or without elevated sweat chloride 16 tests
Brugada syndrome1 test
Brugada syndrome 11 test
Brugada syndrome 21 test
Brugada syndrome 31 test
Brugada syndrome 41 test
Brugada syndrome 51 test
Brugada syndrome 61 test
Brugada syndrome 71 test
Bull's eye macular dystrophy1 test
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 22 tests
CHARGE association2 tests
CYP2C19-related poor drug metabolism1 test
Camptomelic dysplasia2 tests
Capillary malformation-arteriovenous malformation6 tests
Carcinoma of colon1 test
Cardiac arrhythmia, ankyrin B-related1 test
Cardiac valvular dysplasia, X-linked1 test
Cardiofaciocutaneous syndrome 12 tests
Cardiomyopathy1 test
Catecholaminergic polymorphic ventricular tachycardia1 test
Celiac disease1 test
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
Cerebral cavernous malformation1 test
Cerebral creatine deficiency syndrome2 tests
Charcot-Marie-Tooth Neuropathy X2 tests
Charcot-Marie-Tooth disease3 tests
Charcot-Marie-Tooth disease type 2B11 test
Charcot-Marie-Tooth disease type 42 tests
Charcot-Marie-Tooth disease, dominant intermediate B2 tests
Charcot-Marie-Tooth disease, type 22 tests
Charcot-Marie-Tooth disease, type I3 tests
Charcot-Marie-Tooth disease, type IA3 tests
Chondrodysplasia punctata2 tests
Chondroectodermal dysplasia2 tests
Choroidal dystrophy, central areolar 21 test
Chronic granulomatous disease2 tests
Chronic granulomatous disease, X-linked1 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chronic obstructive pulmonary disease1 test
Citrin deficiency1 test
Citrullinemia type I1 test
Citrullinemia type II1 test
Cleidocranial dysostosis2 tests
Clopidogrel response1 test
Codeine response1 test
Combined malonic and methylmalonic aciduria1 test
Common variable immunodeficiency1 test
Common variable immunodeficiency 11 test
Common variable immunodeficiency 101 test
Common variable immunodeficiency 22 tests
Common variable immunodeficiency 31 test
Common variable immunodeficiency 41 test
Common variable immunodeficiency 51 test
Common variable immunodeficiency 61 test
Common variable immunodeficiency 71 test
Common variable immunodeficiency 8, with autoimmunity1 test
Cone dystrophy 31 test
Cone-rod dystrophy1 test
Cone-rod dystrophy 101 test
Cone-rod dystrophy 121 test
Cone-rod dystrophy 131 test
Cone-rod dystrophy 151 test
Cone-rod dystrophy 21 test
Cone-rod dystrophy 61 test
Cone-rod dystrophy, X-linked 11 test
Congenital bilateral absence of the vas deferens6 tests
Congenital contractural arachnodactyly1 test
Congenital muscular dystrophy, LMNA-related1 test
Congenital sensory neuropathy with selective loss of small myelinated fibers2 tests
Congenital stationary night blindness, autosomal dominant 11 test
Congenital stationary night blindness, autosomal dominant 21 test
Costello syndrome2 tests
Cowden syndrome1 test
Cowden syndrome 15 tests
Cranioectodermal dysplasia2 tests
Creatine deficiency, X-linked3 tests
Crigler-Najjar syndrome, type II1 test
Curry-Hall syndrome2 tests
Cutaneous melanoma1 test
Cutis laxa, X-linked3 tests
Cyclical neutropenia1 test
Cystic fibrosis9 tests
Czech dysplasia metatarsal type2 tests
Danon disease1 test
Deafness, autosomal dominant 3a2 tests
Deafness, autosomal recessive 1A3 tests
Deafness, autosomal recessive 1b2 tests
Deafness, nonsyndromic sensorineural, mitochondrial2 tests
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase4 tests
Deficiency of cytochrome-b5 reductase1 test
Deficiency of guanidinoacetate methyltransferase1 test
Desmoid disease, hereditary2 tests
Diastrophic dysplasia2 tests
Diazepam response1 test
Dihydropyrimidine dehydrogenase deficiency1 test
Dilated cardiomyopathy 1A2 tests
Dilated cardiomyopathy 1AA1 test
Dilated cardiomyopathy 1BB1 test
Dilated cardiomyopathy 1C1 test
Dilated cardiomyopathy 1CC1 test
Dilated cardiomyopathy 1DD1 test
Dilated cardiomyopathy 1EE1 test
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy 1I1 test
Dilated cardiomyopathy 1J1 test
Dilated cardiomyopathy 1JJ1 test
Dilated cardiomyopathy 1KK1 test
Dilated cardiomyopathy 1L1 test
Dilated cardiomyopathy 1M1 test
Dilated cardiomyopathy 1N1 test
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P1 test
Dilated cardiomyopathy 1R1 test
Dilated cardiomyopathy 1S1 test
Dilated cardiomyopathy 1T1 test
Dilated cardiomyopathy 1W1 test
Dilated cardiomyopathy 1X1 test
Dilated cardiomyopathy 1Y1 test
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2A1 test
Dilated cardiomyopathy 3B1 test
Dilated cardiomyopathy with woolly hair and keratoderma1 test
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
Disorder due cytochrome p450 CYP2D6 variant1 test
Disorder due cytochrome p450 CYP3A5 variant1 test
Disorders of Intracellular Cobalamin Metabolism1 test
Distal hereditary motor neuronopathy2 tests
Distal myopathy, Tateyama type1 test
Distal spinal muscular atrophy, X-linked 35 tests
Duchenne muscular dystrophy5 tests
Dystrophinopathies4 tests
Early infantile epileptic encephalopathy 23 tests
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant1 test
Ectopia lentis, isolated, autosomal dominant3 tests
Ehlers-Danlos syndrome, classic type1 test
Ehlers-Danlos syndrome, hydroxylysine-deficient3 tests
Ehlers-Danlos syndrome, type 41 test
Emery-Dreifuss muscular dystrophy 1, X-linked1 test
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
Endometrial carcinoma1 test
Enhanced s-cone syndrome1 test
Fabry disease1 test
Familial Mediterranean fever2 tests
Familial adenomatous polyposis 15 tests
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial atrial fibrillation1 test
Familial cancer of breast5 tests
Familial cold autoinflammatory syndrome 31 test
Familial cold urticaria1 test
Familial colorectal cancer2 tests
Familial dysautonomia4 tests
Familial hypercholesterolemia1 test
Familial hypertrophic cardiomyopathy 11 test
Familial hypertrophic cardiomyopathy 101 test
Familial hypertrophic cardiomyopathy 111 test
Familial hypertrophic cardiomyopathy 121 test
Familial hypertrophic cardiomyopathy 131 test
Familial hypertrophic cardiomyopathy 141 test
Familial hypertrophic cardiomyopathy 151 test
Familial hypertrophic cardiomyopathy 161 test
Familial hypertrophic cardiomyopathy 171 test
Familial hypertrophic cardiomyopathy 181 test
Familial hypertrophic cardiomyopathy 21 test
Familial hypertrophic cardiomyopathy 201 test
Familial hypertrophic cardiomyopathy 31 test
Familial hypertrophic cardiomyopathy 41 test
Familial hypertrophic cardiomyopathy 61 test
Familial hypertrophic cardiomyopathy 71 test
Familial hypertrophic cardiomyopathy 81 test
Familial hypertrophic cardiomyopathy 91 test
Familial medullary thyroid carcinoma1 test
Familial partial lipodystrophy 21 test
Familial pulmonary capillary hemangiomatosis1 test
Familial restrictive cardiomyopathy1 test
Familial restrictive cardiomyopathy 11 test
Familial restrictive cardiomyopathy 31 test
Familial type 3 hyperlipoproteinemia1 test
Fanconi anemia, complementation group C2 tests
Fanconi anemia, complementation group J1 test
Fanconi anemia, complementation group N1 test
Fanconi anemia, complementation group O1 test
Fatty liver disease, nonalcoholic 11 test
Fatty liver disease, nonalcoholic 21 test
Fentanyl response2 tests
Fetal hemoglobin quantitative trait locus 12 tests
Fluorouracil response2 tests
Fragile X syndrome3 tests
Fragile X tremor/ataxia syndrome2 tests
Freeman-Sheldon syndrome1 test
Frontometaphyseal dysplasia2 tests
Fukuyama congenital muscular dystrophy1 test
Galactosemia2 tests
Gardner syndrome1 test
Gaucher disease1 test
Gaucher disease type 3C1 test
Gaucher disease, perinatal lethal1 test
Gaucher's disease, type 11 test
Geleophysic dysplasia 23 tests
Genetic prion diseases2 tests
Giant axonal neuropathy2 tests
Gilbert's syndrome1 test
Gingival fibromatosis 11 test
Glaucoma 3, primary congenital, A1 test
Glomuvenous malformations1 test
Glucose 6 phosphate dehydrogenase deficiency2 tests
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to1 test
Glycogen storage disease type 1A2 tests
Glycogen storage disease, type II1 test
Glycogen storage disease, type VII1 test
Gorlin syndrome1 test
Greenberg dysplasia2 tests
Greig cephalopolysyndactyly syndrome3 tests
HNSHA due to aldolase A deficiency1 test
Hb SS disease6 tests
Heart-hand syndrome, Slovenian type1 test
Heinz body anemia2 tests
Hemochromatosis type 11 test
Hemoglobin H2 tests
Hemoglobin H disease, nondeletional1 test
Hemoglobin Lepore trait1 test
Hemoglobinopathy3 tests
Hemolytic anemia1 test
Hemolytic anemia due to hexokinase deficiency1 test
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency1 test
Hemolytic disease of fetus OR newborn due to isoimmunization5 tests
Hemophilia2 tests
Hemophilia B Brandenburg1 test
Hemophilia B Leyden1 test
Hemophilia b(m)2 tests
Hepatic methionine adenosyltransferase deficiency1 test
Hepatitis C virus infection, response to therapy of1 test
Hereditary Paraganglioma-Pheochromocytoma Syndromes6 tests
Hereditary breast and ovarian cancer syndrome5 tests
Hereditary cancer-predisposing syndrome2 tests
Hereditary diffuse gastric cancer3 tests
Hereditary disease3 tests
Hereditary elliptocytosis1 test
Hereditary factor IX deficiency disease3 tests
Hereditary factor VIII deficiency disease5 tests
Hereditary hearing loss and deafness1 test
Hereditary hemorrhagic telangiectasia type 15 tests
Hereditary hemorrhagic telangiectasia type 25 tests
Hereditary insensitivity to pain with anhidrosis2 tests
Hereditary liability to pressure palsies3 tests
Hereditary motor and sensory neuropathy2 tests
Hereditary myopathy with early respiratory failure1 test
Hereditary nonpolyposis colorectal cancer type 41 test
Hereditary nonpolyposis colorectal cancer type 52 tests
Hereditary nonpolyposis colorectal cancer type 81 test
Hereditary pancreatitis10 tests
Hereditary pyropoikilocytosis1 test
Hereditary sensory and autonomic neuropathy type II2 tests
Hereditary sensory neuropathy type 1D2 tests
Hereditary sensory neuropathy type IE2 tests
Hereditary spastic paraplegia2 tests
Hereditary spherocytosis1 test
Hexosaminidase A deficiency, adult type1 test
Holoprosencephaly 22 tests
Holoprosencephaly 32 tests
Holoprosencephaly 42 tests
Holoprosencephaly 52 tests
Holoprosencephaly 92 tests
Holoprosencephaly sequence2 tests
Homocysteinemia due to MTHFR deficiency1 test
Homocystinuria due to CBS deficiency2 tests
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type1 test
Huntington's chorea1 test
Hutchinson-Gilford syndrome1 test
Hydrocodone response1 test
Hyperimmunoglobulin D with periodic fever1 test
Hyperlipoproteinemia1 test
Hypertrichotic osteochondrodysplasia1 test
Hypochondrogenesis2 tests
Hypochondroplasia3 tests
Hypohidrotic ectodermal dysplasia with immune deficiency1 test
Hypophosphatasia2 tests
Hystrix-like ichthyosis with deafness3 tests
Ibuprofen response1 test
Immunodeficiency 141 test
Immunodeficiency with hyper IgM type 11 test
Immunodeficiency with hyper IgM type 21 test
Immunodeficiency with hyper IgM type 31 test
Immunodeficiency with hyper IgM type 51 test
Immunoglobulin A deficiency 21 test
Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
Intellectual functioning disability1 test
Intrinsic factor deficiency1 test
Irinotecan response1 test
Jarcho-Levin syndrome2 tests
Jervell and Lange-Nielsen syndrome1 test
Jervell and Lange-Nielsen syndrome 21 test
Jeune thoracic dystrophy2 tests
Joubert syndrome 22 tests
Juvenile (Subacute) Hexosaminidase A Deficiency1 test
Juvenile polyposis syndrome8 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome8 tests
Juvenile retinitis pigmentosa, AIPL1-related1 test
Kabuki syndrome 11 test
Keratitis-ichthyosis-deafness syndrome, autosomal dominant3 tests
Keratoderma palmoplantar deafness2 tests
Kniest dysplasia2 tests
Knuckle pads, deafness AND leukonychia syndrome2 tests
LEOPARD syndrome 11 test
Larsen syndrome2 tests
Leber congenital amaurosis 11 test
Leber congenital amaurosis 101 test
Leber congenital amaurosis 111 test
Leber congenital amaurosis 121 test
Leber congenital amaurosis 131 test
Leber congenital amaurosis 141 test
Leber congenital amaurosis 151 test
Leber congenital amaurosis 21 test
Leber congenital amaurosis 31 test
Leber congenital amaurosis 41 test
Leber congenital amaurosis 51 test
Leber congenital amaurosis 61 test
Leber congenital amaurosis 71 test
Leber congenital amaurosis 81 test
Left ventricular noncompaction1 test
Left ventricular noncompaction 11 test
Left ventricular noncompaction 101 test
Left ventricular noncompaction 41 test
Left ventricular noncompaction 61 test
Legius syndrome5 tests
Leprechaunism syndrome1 test
Lethal Kniest-like syndrome2 tests
Lethal tight skin contracture syndrome1 test
Li-Fraumeni syndrome7 tests
Limb-girdle muscular dystrophy1 test
Limb-girdle muscular dystrophy, type 1A1 test
Limb-girdle muscular dystrophy, type 1B3 tests
Limb-girdle muscular dystrophy, type 1C1 test
Limb-girdle muscular dystrophy, type 2D1 test
Limb-girdle muscular dystrophy, type 2E1 test
Limb-girdle muscular dystrophy, type 2F1 test
Limb-girdle muscular dystrophy, type 2G1 test
Limb-girdle muscular dystrophy, type 2J1 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C41 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C51 test
Loeys-Dietz syndrome 12 tests
Loeys-Dietz syndrome 22 tests
Loeys-Dietz syndrome 31 test
Loeys-Dietz syndrome 41 test
Long QT syndrome1 test
Long QT syndrome 11 test
Long QT syndrome 101 test
Long QT syndrome 111 test
Long QT syndrome 121 test
Long QT syndrome 21 test
Long QT syndrome 31 test
Long QT syndrome 41 test
Long QT syndrome 51 test
Long QT syndrome 61 test
Long QT syndrome 91 test
Lymphoproliferative syndrome 1, X-linked1 test
Lymphoproliferative syndrome 2, X-linked1 test
Lynch syndrome5 tests
Lynch syndrome II2 tests
MASS syndrome3 tests
MECP2 duplication syndrome2 tests
METHYLCOBALAMIN DEFICIENCY, cblG TYPE1 test
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE1 test
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE1 test
MTHFR deficiency, thermolabile type2 tests
MYH-associated polyposis7 tests
Macrocephaly/autism syndrome3 tests
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Macular degeneration, X-linked atrophic1 test
Macular dystrophy, vitelliform, adult-onset1 test
Majeed syndrome1 test
Mandibuloacral dysostosis1 test
Maple syrup urine disease type 1B2 tests
Maple syrup urine disease, type 32 tests
Marfan syndrome4 tests
Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
Medulloblastoma1 test
Megaloblastic anemia due to inborn errors of metabolism1 test
Menkes kinky-hair syndrome3 tests
Mental retardation 3, X-linked1 test
Mental retardation, X-linked, syndromic 132 tests
Mental retardation, X-linked, syndromic, martin-probst type2 tests
Meperidine response1 test
Metachondromatosis1 test
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly2 tests
Metatrophic dysplasia2 tests
Methadone response1 test
Methemoglobinemia, type I1 test
Methylmalonic acidemia with homocystinuria1 test
Methylmalonic acidemia with homocystinuria cblD1 test
Methylmalonic aciduria cblA type1 test
Methylmalonic aciduria cblB type1 test
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
Methylmalonic aciduria due to transcobalamin receptor defect1 test
Methylmalonyl-CoA epimerase deficiency1 test
Methylphenidate response1 test
Microcephaly, normal intelligence and immunodeficiency2 tests
Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive1 test
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1 test
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)1 test
Mitochondrial diseases2 tests
Morphine response1 test
Mucolipidosis type IV2 tests
Muir-Torré syndrome4 tests
Multiple Cutaneous and Mucosal Venous Malformations1 test
Multiple cutaneous leiomyomas1 test
Multiple endocrine neoplasia, type 15 tests
Multiple endocrine neoplasia, type 21 test
Multiple endocrine neoplasia, type 2a1 test
Multiple endocrine neoplasia, type 2b1 test
Multiple endocrine neoplasia, type 41 test
Multiple fibrofolliculomas2 tests
Muscular dystrophy, limb-girdle, type 2R1 test
Myocardial infarction 11 test
Myofibrillar myopathy 11 test
Myofibrillar myopathy 31 test
Myofibrillar myopathy, ZASP-related1 test
Myopathy, distal, 11 test
Myopathy, early-onset, with fatal cardiomyopathy1 test
Naproxen response1 test
Narcolepsy 11 test
Naxos disease1 test
Nemaline myopathy 22 tests
Neuroblastoma1 test
Neurofibromatosis, type 13 tests
Neurofibromatosis, type 21 test
Neuropathy hereditary sensory and autonomic type 12 tests
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive2 tests
Newfoundland rod-cone dystrophy1 test
Niemann-Pick disease, type A2 tests
Noonan syndrome2 tests
Noonan syndrome 12 tests
Noonan syndrome 42 tests
Noonan syndrome with multiple lentigines2 tests
Noonan syndrome-like disorder with loose anagen hair 12 tests
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia2 tests
Oguchi's disease1 test
Omeprazole response1 test
Ornithine carbamoyltransferase deficiency3 tests
Osler hemorrhagic telangiectasia syndrome6 tests
Osteogenesis imperfecta2 tests
Osteoglophonic dysplasia2 tests
Oxycodone response1 test
PTEN hamartoma tumor syndrome4 tests
Pallister-Hall syndrome3 tests
Paraganglioma and gastric stromal sarcoma1 test
Paragangliomas 13 tests
Paragangliomas 33 tests
Paragangliomas 43 tests
Paragangliomas 51 test
Parastremmatic dwarfism2 tests
Parkes Weber syndrome5 tests
Patterned dystrophy of retinal pigment epithelium1 test
Pendred syndrome1 test
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease2 tests
Peripheral neuropathy, myopathy, hoarseness, and hearing loss2 tests
Perrault syndrome 11 test
Perry syndrome2 tests
Persistent hyperinsulinemic hypoglycemia of infancy2 tests
Peutz-Jeghers syndrome6 tests
Pheochromocytoma4 tests
Phosphoglycerate kinase 1 deficiency1 test
Pigmentary retinal dystrophy1 test
Pigmented paravenous chorioretinal atrophy1 test
Pilomatrixoma2 tests
Pineal hyperplasia AND diabetes mellitus syndrome1 test
Plasminogen activator inhibitor type 1 deficiency1 test
Platyspondylic lethal skeletal dysplasia Torrance type2 tests
Polycystic kidney disease, autosomal dominant3 tests
Prader-Willi syndrome2 tests
Primary dilated cardiomyopathy1 test
Primary familial hypertrophic cardiomyopathy1 test
Primary pulmonary hypertension5 tests
Primary pulmonary hypertension 21 test
Primary pulmonary hypertension 31 test
Primary pulmonary hypertension 42 tests
Progressive familial heart block type 1A1 test
Progressive familial heart block type 1B1 test
Propionyl-CoA carboxylase deficiency1 test
Proteus syndrome1 test
Proteus-like syndrome1 test
Pseudo von Willebrand disease1 test
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2 tests
Pseudohypoaldosteronism type 2D1 test
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia1 test
Pulmonary veno-occlusive disease3 tests
Pyogenic arthritis, pyoderma gangrenosum and acne1 test
Pyruvate kinase deficiency of red cells1 test
Rasopathy2 tests
Renal carnitine transport defect3 tests
Renal cell carcinoma, papillary, 12 tests
Retinitis pigmentosa1 test
Retinitis pigmentosa 11 test
Retinitis pigmentosa 101 test
Retinitis pigmentosa 111 test
Retinitis pigmentosa 121 test
Retinitis pigmentosa 131 test
Retinitis pigmentosa 141 test
Retinitis pigmentosa 151 test
Retinitis pigmentosa 171 test
Retinitis pigmentosa 181 test
Retinitis pigmentosa 191 test
Retinitis pigmentosa 21 test
Retinitis pigmentosa 201 test
Retinitis pigmentosa 251 test
Retinitis pigmentosa 261 test
Retinitis pigmentosa 271 test
Retinitis pigmentosa 301 test
Retinitis pigmentosa 311 test
Retinitis pigmentosa 331 test
Retinitis pigmentosa 351 test
Retinitis pigmentosa 361 test
Retinitis pigmentosa 371 test
Retinitis pigmentosa 381 test
Retinitis pigmentosa 391 test
Retinitis pigmentosa 41 test
Retinitis pigmentosa 401 test
Retinitis pigmentosa 411 test
Retinitis pigmentosa 421 test
Retinitis pigmentosa 431 test
Retinitis pigmentosa 441 test
Retinitis pigmentosa 451 test
Retinitis pigmentosa 461 test
Retinitis pigmentosa 471 test
Retinitis pigmentosa 481 test
Retinitis pigmentosa 491 test
Retinitis pigmentosa 501 test
Retinitis pigmentosa 511 test
Retinitis pigmentosa 541 test
Retinitis pigmentosa 591 test
Retinitis pigmentosa 71 test
Retinitis pigmentosa 91 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
Retinoblastoma1 test
Rett syndrome3 tests
Rhabdoid tumor predisposition syndrome 11 test
Rhizomelic chondrodysplasia punctata2 tests
Rippling muscle disease1 test
Romano-Ward syndrome1 test
Rotor syndrome1 test
SUDDEN INFANT DEATH SYNDROME1 test
Schneckenbecken dysplasia2 tests
Schwartz Jampel syndrome type 12 tests
Severe autosomal recessive muscular dystrophy of childhood - North African type1 test
Severe combined immunodeficiency due to ADA deficiency1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive1 test
Severe congenital neutropenia autosomal dominant1 test
Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive1 test
Severe neonatal-onset encephalopathy with microcephaly3 tests
Short QT syndrome 11 test
Short QT syndrome 21 test
Short QT syndrome 31 test
Short rib-polydactyly syndrome, Majewski type2 tests
Short-rib thoracic dysplasia 3 with or without polydactyly2 tests
Shprintzen-Goldberg syndrome4 tests
Sick sinus syndrome 1, autosomal recessive1 test
Sickle cell-Hemoglobin O Arab disease3 tests
Sickle cell-beta-thalassemia3 tests
Sickle cell-hemoglobin C disease3 tests
Sickle cell-hemoglobin D disease3 tests
Skeletal dysplasia2 tests
Slowed nerve conduction velocity, autosomal dominant2 tests
Smith-Lemli-Opitz syndrome2 tests
Spermatogenic failure, Y-linked 21 test
Spinal muscular atrophy5 tests
Spinal muscular atrophy, distal, autosomal recessive, 12 tests
Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant2 tests
Spinocerebellar ataxia autosomal recessive with axonal neuropathy2 tests
Spondylocarpotarsal synostosis syndrome2 tests
Spondyloepiphyseal dysplasia2 tests
Spondyloperipheral dysplasia2 tests
Spongy degeneration of central nervous system2 tests
Stargardt disease 11 test
Stargardt disease 41 test
Statin-induced myopathy1 test
Stickler syndrome, type 31 test
Stiff skin syndrome3 tests
Stuve-Wiedemann syndrome2 tests
Subacute neuronopathic Gaucher's disease1 test
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Tamoxifen response1 test
Tapentadol response1 test
Tay-Sachs disease5 tests
Telangiectasia, hereditary hemorrhagic, type 52 tests
Terminal osseous dysplasia2 tests
Thalassemia3 tests
Thalassemia intermedia2 tests
Thanatophoric dysplasia type 14 tests
Thanatophoric dysplasia, type 24 tests
Thiopurine methyltransferase deficiency1 test
Thrombophilia due to activated protein C resistance1 test
Thrombophilia due to factor V Leiden2 tests
Thrombophilia, familial, due to decreased release of tissue plasminogen activator1 test
Timothy syndrome1 test
Tramadol response1 test
Transcobalamin II deficiency1 test
Transcription level of plasminogen activator inhibitor 11 test
Triosephosphate isomerase deficiency1 test
Tropical calcific pancreatitis1 test
Tuberous sclerosis 12 tests
Tuberous sclerosis 22 tests
Tuberous sclerosis syndrome1 test
Tumor susceptibility linked to germline BAP1 mutations2 tests
Turcot syndrome6 tests
Type II Collagenopathies2 tests
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to1 test
Usher syndrome type 21 test
Usher syndrome, type 1B1 test
Usher syndrome, type 1C1 test
Usher syndrome, type 1D1 test
Usher syndrome, type 1F3 tests
Usher syndrome, type 1G1 test
Usher syndrome, type 2C1 test
Usher syndrome, type 2D1 test
Usher syndrome, type 3A3 tests
VACTERL association with hydrocephalus2 tests
Venous thrombosis4 tests
Ventricular tachycardia, catecholaminergic polymorphic, 21 test
Vertical talus, congenital2 tests
Very long chain acyl-CoA dehydrogenase deficiency3 tests
Vitelliform macular dystrophy type 21 test
Vitreoretinochoroidopathy1 test
Von Hippel-Lindau syndrome5 tests
WFS1-Related Disorders1 test
Warfarin response2 tests
Weill-Marchesani syndrome 23 tests
Wilson disease1 test
Wolff-Parkinson-White pattern1 test
X-linked agammaglobulinemia1 test
Xerocytosis1 test
Young Simpson syndrome2 tests
alpha Thalassemia4 tests
beta Thalassemia6 tests
short QT syndrome1 test
von Willebrand disease type 24 tests
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