Ambry Genetics

General information

Ambry Genetics

7 Argonaut
Aliso Viejo
California
United States - 92656
http://www.ambrygen.com/
Organization ID: 61756

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 50961

Gene

GeneSubmissionsLast Updated
AAAS1Feb 8, 2018
AARS22Feb 8, 2018
ABCA11Feb 8, 2018
ABCA123Feb 8, 2018
ABCA47Feb 8, 2018
ABCA51Nov 14, 2017
ABCB111Feb 8, 2018
ABCB71Feb 8, 2018
ABCC939Jul 30, 2018
ABCD126Jul 30, 2018
ABL22Feb 8, 2018
ACAN5Feb 8, 2018
ACAT11Nov 14, 2017
ACO24Feb 8, 2018
ACP52Feb 8, 2018
ACSL47Jul 30, 2018
ACTA12Feb 8, 2018
ACTA230Jul 30, 2018
ACTB8Feb 8, 2018
ACTC112Jul 30, 2018
ACTG13Feb 8, 2018
ACTG24Feb 8, 2018
ACTN264Jul 30, 2018
ACVR11Feb 8, 2018
ADAR2Feb 8, 2018
ADCY56Feb 8, 2018
ADGRG12Feb 8, 2018
ADGRL11Feb 8, 2018
ADNP44Jul 30, 2018
AFF25Feb 8, 2018
AFG3L21Feb 8, 2018
AGK2Feb 8, 2018
AGL1Feb 8, 2018
AGO11Feb 8, 2018
AGTR23Jul 30, 2018
AHCY2Feb 8, 2018
AIFM12Feb 8, 2018
AIMP21Nov 14, 2017
AIP41Jul 30, 2018
AKAP9190Jul 30, 2018
AKT21Feb 8, 2018
AKT32Feb 8, 2018
ALDH18A11Feb 8, 2018
ALDH5A12Feb 8, 2018
ALDH7A126Jul 30, 2018
ALG12Nov 14, 2017
ALG1326Jul 30, 2018
ALG33Feb 8, 2018
ALK51Jul 30, 2018
ALPL2Feb 8, 2018
ALS22Feb 8, 2018
ALX41Feb 8, 2018
AMELX1Feb 8, 2018
AMER11Feb 8, 2018
AMPD22Nov 14, 2017
AMT2Feb 8, 2018
ANG1Nov 14, 2017
ANK2196Jul 30, 2018
ANK31Nov 14, 2017
ANKRD121Jul 30, 2018
ANKRD11174Jul 30, 2018
ANO32Feb 8, 2018
ANOS11Feb 8, 2018
AP1S22Jul 30, 2018
AP4B137Jul 30, 2018
AP4M11Feb 8, 2018
AP4S13Feb 8, 2018
APAF12Feb 8, 2018
APC1727Jul 30, 2018
APOB1Feb 8, 2018
APP1Feb 8, 2018
AR1Feb 8, 2018
ARHGAP11A1Nov 14, 2017
ARHGEF64Jul 30, 2018
ARHGEF917Jul 30, 2018
ARID1A7Feb 8, 2018
ARID1B168Jul 30, 2018
ARID24Feb 8, 2018
ARSA1Feb 8, 2018
ARSE2Feb 8, 2018
ARV11Feb 8, 2018
ARX32Jul 30, 2018
ASH1L2Feb 8, 2018
ASNS2Feb 8, 2018
ASPM10Feb 8, 2018
ASXL18Feb 8, 2018
ASXL34Feb 8, 2018
ATL12Feb 8, 2018
ATM2826Jul 30, 2018
ATP13A260Jul 30, 2018
ATP1A236Jul 30, 2018
ATP1A39Feb 8, 2018
ATP2B32Feb 8, 2018
ATP6AP24Jul 30, 2018
ATP6V0A42Feb 8, 2018
ATP6V1A2Feb 8, 2018
ATP6V1B13Feb 8, 2018
ATP7A31Jul 30, 2018
ATP7B4Feb 8, 2018
ATP8A21Feb 8, 2018
ATP8B11Feb 8, 2018
ATRX58Jul 30, 2018
AUH1Feb 8, 2018
AUTS25Feb 8, 2018
AVPR22Feb 8, 2018
AXIN21Feb 8, 2018
B3GALNT22Feb 8, 2018
B4GALNT11Feb 8, 2018
BAG343Jul 30, 2018
BAP1134Jul 30, 2018
BARD1812Jul 30, 2018
BASP11Feb 8, 2018
BBS106Feb 8, 2018
BBS21Feb 8, 2018
BCAP311Feb 8, 2018
BCL11A3Feb 8, 2018
BCL11B3Feb 8, 2018
BCOR12Jul 30, 2018
BCS1L2Feb 8, 2018
BDNF1Feb 8, 2018
BICD23Feb 8, 2018
BLM142Jul 30, 2018
BMP72Feb 8, 2018
BMPR1A287Jul 30, 2018
BPTF2Feb 8, 2018
BRAF9Feb 8, 2018
BRAT14Feb 8, 2018
BRCA12259Jul 30, 2018
BRCA24030Jul 30, 2018
BRD41Feb 8, 2018
BRIP1913Jul 30, 2018
BRPF13Feb 8, 2018
BRWD314Jul 30, 2018
BSCL21Feb 8, 2018
BTD3Feb 8, 2018
CA88Jul 30, 2018
CACNA1A138Jul 30, 2018
CACNA1C206Jul 30, 2018
CACNA1C-AS12Jul 30, 2018
CACNA1D2Feb 8, 2018
CACNA1E7Feb 8, 2018
CACNA1F1Feb 8, 2018
CACNA1G3Feb 8, 2018
CACNA2D141Jul 30, 2018
CACNB247Jul 30, 2018
CALM14Jul 30, 2018
CALM21Feb 8, 2018
CALR310Jul 30, 2018
CAMK2B2Feb 8, 2018
CAMTA14Feb 8, 2018
CANT12Feb 8, 2018
CARS25Feb 8, 2018
CASK25Jul 30, 2018
CASQ224Jul 30, 2018
CASR3Feb 8, 2018
CAV11Apr 8, 2016
CAV324Jul 30, 2018
CBL2Feb 8, 2018
CBS73Jul 30, 2018
CC2D1A53Jul 30, 2018
CC2D2A2Feb 8, 2018
CCDC1511Feb 8, 2018
CCN62Feb 8, 2018
CCND22Feb 8, 2018
CD40LG1Feb 8, 2018
CDC422Feb 8, 2018
CDC71Feb 8, 2018
CDC731Feb 8, 2018
CDH1844Jul 30, 2018
CDH236Feb 8, 2018
CDK135Feb 8, 2018
CDK4130Jul 30, 2018
CDKL534Jul 30, 2018
CDKN1B35Jul 30, 2018
CDKN2A180Jul 30, 2018
CDON1Feb 8, 2018
CEBPA1Feb 8, 2018
CEP1352Feb 8, 2018
CEP1522Feb 8, 2018
CEP551Feb 8, 2018
CEP632Feb 8, 2018
CFTR7Feb 8, 2018
CHAMP14Feb 8, 2018
CHD280Jul 30, 2018
CHD33Feb 8, 2018
CHD43Feb 8, 2018
CHD7139Jul 30, 2018
CHD883Jul 30, 2018
CHEK2713Jul 30, 2018
CHMP1A1Feb 8, 2018
CHRNA11Feb 8, 2018
CHRNA229Jul 30, 2018
CHRNA460Jul 30, 2018
CHRNB218Jul 30, 2018
CHRNG2Feb 8, 2018
CHSY12Feb 8, 2018
CIC3Feb 8, 2018
CIT2Feb 8, 2018
CLCN11Feb 8, 2018
CLCN31Feb 8, 2018
CLCN45Feb 8, 2018
CLCN51Feb 8, 2018
CLN322Jul 30, 2018
CLN526Jul 30, 2018
CLN616Jul 30, 2018
CLN820Jul 30, 2018
CLP11Feb 8, 2018
CLPB1Feb 8, 2018
CLTC6Feb 8, 2018
CNGB31Feb 8, 2018
CNOT31Feb 8, 2018
CNTNAP11Feb 8, 2018
CNTNAP287Jul 30, 2018
COL11A12Feb 8, 2018
COL11A22Feb 8, 2018
COL12A11Feb 8, 2018
COL1A13Feb 8, 2018
COL1A29Feb 8, 2018
COL27A13Feb 8, 2018
COL2A19Feb 8, 2018
COL3A1134Jul 30, 2018
COL4A111Feb 8, 2018
COL4A22Feb 8, 2018
COL4A3BP1Feb 8, 2018
COL4A51Feb 8, 2018
COL5A1198Jul 30, 2018
COL5A2104Jul 30, 2018
COL6A13Feb 8, 2018
COL6A22Feb 8, 2018
COL6A33Feb 8, 2018
COL7A13Feb 8, 2018
COL9A11Feb 8, 2018
COL9A21Feb 8, 2018
COL9A32Feb 8, 2018
COMP1Feb 8, 2018
COQ42Feb 8, 2018
COQ8A4Feb 8, 2018
COQ8B2Feb 8, 2018
CP1Feb 8, 2018
CPLANE12Feb 8, 2018
CPT21Feb 8, 2018
CRB11Feb 8, 2018
CREBBP117Jul 30, 2018
CRH10Jul 30, 2018
CRYAA1Feb 8, 2018
CRYAB9Jul 30, 2018
CRYBA11Feb 8, 2018
CSF1R1Feb 8, 2018
CSNK2A14Feb 8, 2018
CSNK2B3Feb 8, 2018
CSRP319Jul 30, 2018
CSTB7Jul 30, 2018
CTBP11Feb 8, 2018
CTCF16Jul 30, 2018
CTNNB111Feb 8, 2018
CTNND22Feb 8, 2018
CTSD29Jul 30, 2018
CTSF30Jul 30, 2018
CTSK1Feb 8, 2018
CUL32Feb 8, 2018
CUL4B9Jul 30, 2018
CUL72Nov 14, 2017
CYBB1Feb 8, 2018
CYP21A23Feb 8, 2018
CYP4V21Feb 8, 2018
CYP7B11Nov 14, 2017
DARS22Nov 14, 2017
DCHS12Feb 8, 2018
DCX7Jul 30, 2018
DDX111Feb 8, 2018
DDX3X23Jul 30, 2018
DEAF16Feb 8, 2018
DENND5A2Feb 8, 2018
DEPDC567Jul 30, 2018
DES37Jul 30, 2018
DGKZ1Nov 14, 2017
DGUOK1Nov 14, 2017
DHCR750Jul 30, 2018
DHTKD12Feb 8, 2018
DIAPH11Feb 8, 2018
DICER1485Jul 30, 2018
DKC11Jul 30, 2018
DLAT1Feb 8, 2018
DLD1Feb 8, 2018
DLG311Jul 30, 2018
DLL41Feb 8, 2018
DMD138Jul 30, 2018
DNAAF32Jul 30, 2018
DNAH56Feb 8, 2018
DNAJC59Jul 30, 2018
DNM137Jul 30, 2018
DNM1L1Feb 8, 2018
DNMT3A6Feb 8, 2018
DOCK12Feb 8, 2018
DOCK31Feb 8, 2018
DOCK62Feb 8, 2018
DOCK72Feb 8, 2018
DOCK83Feb 8, 2018
DOK71Feb 8, 2018
DONSON3Feb 8, 2018
DPAGT12Feb 8, 2018
DPH11Feb 8, 2018
DPYD2Feb 8, 2018
DPYSL21Nov 14, 2017
DSC267Jul 30, 2018
DSCAM1Feb 8, 2018
DSE2Feb 8, 2018
DSG280Jul 30, 2018
DSP182Jul 30, 2018
DUOX22Feb 8, 2018
DVL11Feb 8, 2018
DYNC1H1141Jul 30, 2018
DYNC2H13Feb 8, 2018
DYRK1A29Jul 30, 2018
DYSF1Nov 14, 2017
EARS24Feb 8, 2018
EBF34Feb 8, 2018
ECEL14Feb 8, 2018
ECHS12Feb 8, 2018
EDA2Feb 8, 2018
EDAR1Feb 8, 2018
EDN31Apr 8, 2016
EDNRA1Feb 8, 2018
EEF1A227Jul 30, 2018
EEF1D1Feb 8, 2018
EFNB12Feb 8, 2018
EFTUD26Feb 8, 2018
EGLN11Nov 14, 2017
EGR21Feb 8, 2018
EHMT172Jul 30, 2018
EIF2B51Feb 8, 2018
ELN2Feb 8, 2018
ELP22Nov 14, 2017
EMC11Feb 8, 2018
EMD7Jul 30, 2018
EMILIN11Nov 14, 2017
EP30011Feb 8, 2018
EPCAM6Jul 30, 2018
EPG55Feb 8, 2018
EPM2A23Jul 30, 2018
ERBB21Feb 8, 2018
ERBB41Feb 8, 2018
ERCC22Feb 8, 2018
ERCC64Feb 8, 2018
ERF1Feb 8, 2018
ESPN1Apr 8, 2016
ETFB1Nov 14, 2017
ETFDH1Feb 8, 2018
ETV63Feb 8, 2018
EXOC6B1Feb 8, 2018
EXOSC31Feb 8, 2018
EXT11Feb 8, 2018
EYA421Jul 30, 2018
EZH21Feb 8, 2018
F81Feb 8, 2018
F91Feb 8, 2018
FA2H2Feb 8, 2018
FANCA1Feb 8, 2018
FANCB5Jul 30, 2018
FANCC68Jul 30, 2018
FANCI3Jul 30, 2018
FANCL1Feb 8, 2018
FARS22Feb 8, 2018
FAS1Feb 8, 2018
FAT44Feb 8, 2018
FBN1409Jul 30, 2018
FBN2263Jul 30, 2018
FBXL44Feb 8, 2018
FBXO281Feb 8, 2018
FDXR4Feb 8, 2018
FGD129Jul 30, 2018
FGFR24Feb 8, 2018
FGFR36Feb 8, 2018
FGG1Feb 8, 2018
FH166Jul 30, 2018
FHL11Feb 8, 2018
FIG42Feb 8, 2018
FKBP102Feb 8, 2018
FKBP143Feb 8, 2018
FKTN22Jul 30, 2018
FLCN197Jul 30, 2018
FLG2Feb 8, 2018
FLNA263Jul 30, 2018
FLNC1Feb 8, 2018
FLT41Feb 8, 2018
FLVCR13Feb 8, 2018
FMR110Jul 30, 2018
FN11Nov 14, 2017
FOLR114Jul 30, 2018
FOXG142Jul 30, 2018
FOXP127Jul 30, 2018
FOXP223Jul 30, 2018
FOXRED11Feb 8, 2018
FTSJ111Jul 30, 2018
FUS1Feb 8, 2018
FXN10Jul 30, 2018
G6PD3Feb 8, 2018
GAA3Feb 8, 2018
GABBR23Feb 8, 2018
GABRA118Jul 30, 2018
GABRB21Feb 8, 2018
GABRB313Jul 30, 2018
GABRG220Jul 30, 2018
GALNS5Feb 8, 2018
GALNT1289Jul 30, 2018
GAMT21Jul 30, 2018
GAN2Feb 8, 2018
GARS1Nov 14, 2017
GATA31Feb 8, 2018
GATA429Jul 30, 2018
GATAD17Jul 30, 2018
GATAD2B1Feb 8, 2018
GATM14Jul 30, 2018
GBE14Feb 8, 2018
GCH11Feb 8, 2018
GCK1Feb 8, 2018
GDAP12Feb 8, 2018
GDI19Jul 30, 2018
GFAP2Nov 14, 2017
GFER2Feb 8, 2018
GFI1B1Feb 8, 2018
GHSR1Feb 8, 2018
GJA12Feb 8, 2018
GJA82Feb 8, 2018
GJB13Jul 30, 2018
GJB23Feb 8, 2018
GJC23Feb 8, 2018
GK4Jul 30, 2018
GLA16Jul 30, 2018
GLB14Feb 8, 2018
GLDC2Feb 8, 2018
GLE12Feb 8, 2018
GLI26Feb 8, 2018
GMPPB3Feb 8, 2018
GNAO121Jul 30, 2018
GNAS6Feb 8, 2018
GNB14Feb 8, 2018
GNB51Feb 8, 2018
GNPAT1Feb 8, 2018
GNPTAB2Feb 8, 2018
GOSR29Jul 30, 2018
GPC39Jul 30, 2018
GPC41Feb 8, 2018
GPD11Feb 8, 2018
GPD1L26Jul 30, 2018
GPR1431Feb 8, 2018
GPT21Feb 8, 2018
GRHL31Feb 8, 2018
GRIA314Jul 30, 2018
GRIA41Feb 8, 2018
GRID21Feb 8, 2018
GRIN136Jul 30, 2018
GRIN2A55Jul 30, 2018
GRIN2B69Jul 30, 2018
GRIN2D1Feb 8, 2018
GRN37Jul 30, 2018
GUCY2D2Feb 8, 2018
GYS21Feb 8, 2018
H3F3A1Feb 8, 2018
H3F3B2Feb 8, 2018
HADHA3Feb 8, 2018
HARS1Feb 8, 2018
HBB1Feb 8, 2018
HCCS2Jul 30, 2018
HCFC16Feb 8, 2018
HCN134Jul 30, 2018
HCN478Jul 30, 2018
HDAC11Nov 14, 2017
HDAC21Feb 8, 2018
HDAC32Feb 8, 2018
HDAC41Feb 8, 2018
HDAC89Jul 30, 2018
HECW27Feb 8, 2018
HERC29Feb 8, 2018
HEXA4Feb 8, 2018
HHAT1Feb 8, 2018
HIBCH4Feb 8, 2018
HIKESHI1Feb 8, 2018
HIST1H1E1Feb 8, 2018
HIVEP25Feb 8, 2018
HMBS1Nov 14, 2017
HMGCL2Feb 8, 2018
HNF4A2Feb 8, 2018
HNRNPH22Feb 8, 2018
HNRNPK2Feb 8, 2018
HNRNPR1Feb 8, 2018
HNRNPU18Jul 30, 2018
HOXA116Jul 30, 2018
HOXA22Jul 30, 2018
HOXB1384Jul 30, 2018
HOXD131Feb 8, 2018
HPRT15Jul 30, 2018
HRAS1Feb 8, 2018
HSD17B101Feb 8, 2018
HSD17B33Feb 8, 2018
HSPB11Feb 8, 2018
HTT2Feb 8, 2018
HUWE167Jul 30, 2018
IBA572Feb 8, 2018
ICOSLG1Feb 8, 2018
IDH21Feb 8, 2018
IDS18Jul 30, 2018
IFT1722Feb 8, 2018
IGF1R6Feb 8, 2018
IGHMBP24Feb 8, 2018
IKBKG1Feb 8, 2018
IL10RB1Feb 8, 2018
IL1RAPL11Jul 30, 2018
IL21R2Feb 8, 2018
IL2RG1Feb 8, 2018
ILK7Jul 30, 2018
INSL31Feb 8, 2018
IQCE1Feb 8, 2018
IQSEC231Jul 30, 2018
IRF2BPL1Feb 8, 2018
ITGA112Nov 14, 2017
ITK1Feb 8, 2018
ITPR111Feb 8, 2018
ITSN11Nov 14, 2017
JAG131Jul 30, 2018
JAK11Apr 8, 2016
JPH259Jul 30, 2018
JUP66Jul 30, 2018
KANSL16Feb 8, 2018
KARS4Feb 8, 2018
KAT6A57Jul 30, 2018
KAT6B3Feb 8, 2018
KATNAL224Jul 30, 2018
KCNA11Nov 14, 2017
KCNA212Jul 30, 2018
KCNAB21Feb 8, 2018
KCNB11Feb 8, 2018
KCNC114Jul 30, 2018
KCNC32Feb 8, 2018
KCND332Jul 30, 2018
KCNE122Jul 30, 2018
KCNE29Jul 30, 2018
KCNE37Jul 30, 2018
KCNH14Feb 8, 2018
KCNH2146Jul 30, 2018
KCNJ1014Jul 30, 2018
KCNJ220Jul 30, 2018
KCNJ57Jul 30, 2018
KCNJ812Jul 30, 2018
KCNMA11Feb 8, 2018
KCNN22Feb 8, 2018
KCNQ1124Jul 30, 2018
KCNQ263Jul 30, 2018
KCNQ331Jul 30, 2018
KCNQ53Feb 8, 2018
KCNT187Jul 30, 2018
KCTD715Jul 30, 2018
KDM5B2Feb 8, 2018
KDM5C25Jul 30, 2018
KDM6A4Feb 8, 2018
KDM6B2Nov 14, 2017
KIDINS2201Feb 8, 2018
KIF112Feb 8, 2018
KIF1A77Jul 30, 2018
KIF221Feb 8, 2018
KIF2A1Feb 8, 2018
KIF71Feb 8, 2018
KLHL91Nov 14, 2017
KMT2A22Feb 8, 2018
KMT2B7Feb 8, 2018
KMT2D20Feb 8, 2018
KMT5B3Feb 8, 2018
KRAS1Feb 8, 2018
KRT121Feb 8, 2018
KRT161Nov 14, 2017
KRT91Feb 8, 2018
L1CAM27Jul 30, 2018
LAMA13Feb 8, 2018
LAMA25Feb 8, 2018
LAMA462Jul 30, 2018
LAMC32Feb 8, 2018
LAMP231Jul 30, 2018
LAS1L2Feb 8, 2018
LCA52Feb 8, 2018
LDB370Jul 30, 2018
LDLR2Feb 8, 2018
LGI110Jul 30, 2018
LIG42Feb 8, 2018
LINS144Jul 30, 2018
LMBRD11Nov 14, 2017
LMNA76Jul 30, 2018
LMX1B1Feb 8, 2018
LONP11Feb 8, 2018
LOX2Feb 8, 2018
LPL1Feb 8, 2018
LRFN52Nov 14, 2017
LRP26Feb 8, 2018
LRP55Feb 8, 2018
LRRC61Feb 8, 2018
LRRK21Feb 8, 2018
LRSAM12Feb 8, 2018
LRTOMT1Nov 14, 2017
LZTR13Feb 8, 2018
MAF1Feb 8, 2018
MAGEL23Feb 8, 2018
MAGT11Feb 8, 2018
MAN1B159Jul 30, 2018
MAN2B14Feb 8, 2018
MAOA11Jul 30, 2018
MAP1A1Feb 8, 2018
MAP2K13Feb 8, 2018
MAP3K12Feb 8, 2018
MAPK11Nov 14, 2017
MARCKS1Feb 8, 2018
MAX35Jul 30, 2018
MBD538Jul 30, 2018
MBTPS21Feb 8, 2018
MCOLN11Feb 8, 2018
MECP269Jul 30, 2018
MED12108Jul 30, 2018
MED13L13Feb 8, 2018
MED2318Jul 30, 2018
MEF2C11Jul 30, 2018
MEFV2Feb 8, 2018
MEN1224Jul 30, 2018
MERTK1Feb 8, 2018
MET194Jul 30, 2018
METTL237Feb 8, 2018
MFN23Feb 8, 2018
MFSD827Jul 30, 2018
MID113Jul 30, 2018
MITF1Jul 30, 2018
MKKS1Feb 8, 2018
MLH1785Jul 30, 2018
MMACHC1Feb 8, 2018
MME1Feb 8, 2018
MN11Feb 8, 2018
MORC24Feb 8, 2018
MPZ3Jul 30, 2018
MRE11563Jul 30, 2018
MRPS222Feb 8, 2018
MSH21294Jul 30, 2018
MSH61709Jul 30, 2018
MSL31Feb 8, 2018
MSMO12Feb 8, 2018
MTIF22Feb 8, 2018
MTOR4Feb 8, 2018
MTPAP1Feb 8, 2018
MTR1Nov 14, 2017
MTRR1Nov 14, 2017
MUTYH569Jul 30, 2018
MYBPC11Feb 8, 2018
MYBPC3247Jul 30, 2018
MYCN1Feb 8, 2018
MYH101Nov 14, 2017
MYH11236Jul 30, 2018
MYH141Feb 8, 2018
MYH21Feb 8, 2018
MYH33Feb 8, 2018
MYH6193Jul 30, 2018
MYH7238Jul 30, 2018
MYH82Nov 14, 2017
MYL220Jul 30, 2018
MYL318Jul 30, 2018
MYLK164Jul 30, 2018
MYO15A5Feb 8, 2018
MYO1E1Feb 8, 2018
MYO7A5Feb 8, 2018
MYOM149Jul 30, 2018
MYOT1Feb 8, 2018
MYOZ214Jul 30, 2018
MYPN99Jul 30, 2018
MYT1L1Feb 8, 2018
NAA102Feb 8, 2018
NAA152Feb 8, 2018
NACC12Feb 8, 2018
NAGLU3Feb 8, 2018
NALCN6Feb 8, 2018
NBN611Jul 30, 2018
NDE131Jul 30, 2018
NDP3Jul 30, 2018
NDST12Feb 8, 2018
NDUFA14Jul 30, 2018
NDUFA101Feb 8, 2018
NDUFAF21Feb 8, 2018
NDUFAF52Nov 14, 2017
NDUFAF62Feb 8, 2018
NDUFB33Feb 8, 2018
NDUFS32Feb 8, 2018
NDUFS71Jul 30, 2018
NDUFV12Feb 8, 2018
NEB16Feb 8, 2018
NEBL18Jul 30, 2018
NEFH1Nov 14, 2017
NEFL1Feb 8, 2018
NEXMIF47Jul 30, 2018
NEXN48Jul 30, 2018
NF11649Jul 30, 2018
NF239Jul 30, 2018
NFIA6Feb 8, 2018
NFIX3Feb 8, 2018
NGLY12Feb 8, 2018
NHLRC114Jul 30, 2018
NHS32Jul 30, 2018
NID11Nov 14, 2017
NIPBL50Jul 30, 2018
NKX2-14Feb 8, 2018
NKX2-530Jul 30, 2018
NLGN313Jul 30, 2018
NLGN4X22Jul 30, 2018
NLRP31Feb 8, 2018
NMNAT22Feb 8, 2018
NOD21Feb 8, 2018
NODAL1Feb 8, 2018
NONO1Feb 8, 2018
NOTCH1284Jul 30, 2018
NOTCH21Feb 8, 2018
NOTCH32Feb 8, 2018
NPC12Feb 8, 2018
NPHP31Nov 14, 2017
NPR22Feb 8, 2018
NR2F12Feb 8, 2018
NR2F23Feb 8, 2018
NRP21Feb 8, 2018
NRXN187Jul 30, 2018
NSD168Jul 30, 2018
NSD22Feb 8, 2018
NSUN236Jul 30, 2018
NTF41Feb 8, 2018
NTRK13Feb 8, 2018
NUBPL4Feb 8, 2018
OBSCN2Nov 14, 2017
OCA25Feb 8, 2018
OCRL11Jul 30, 2018
OFD130Jul 30, 2018
OGDHL2Nov 14, 2017
OGT2Feb 8, 2018
OLIG21Feb 8, 2018
OPA12Feb 8, 2018
OPHN114Jul 30, 2018
ORC12Nov 14, 2017
OSGEP2Feb 8, 2018
OTC10Jul 30, 2018
OTOA1Feb 8, 2018
OTOGL3Feb 8, 2018
OTX21Feb 8, 2018
PACS130Jul 30, 2018
PAFAH1B12Feb 8, 2018
PAH4Feb 8, 2018
PAK310Jul 30, 2018
PALB21189Jul 30, 2018
PANK21Nov 14, 2017
PARS23Feb 8, 2018
PAX21Feb 8, 2018
PAX61Feb 8, 2018
PAX93Feb 8, 2018
PCBP11Feb 8, 2018
PCDH1939Jul 30, 2018
PCNT4Feb 8, 2018
PCYT1A1Feb 8, 2018
PDE4D1Feb 8, 2018
PDE6A2Feb 8, 2018
PDGFRB3Feb 8, 2018
PDHA114Jul 30, 2018
PDLIM311Jul 30, 2018
PDYN1Feb 8, 2018
PEX101Nov 14, 2017
PEX191Nov 14, 2017
PEX62Feb 8, 2018
PGAP22Feb 8, 2018
PGAP32Feb 8, 2018
PGK11Feb 8, 2018
PHEX1Feb 8, 2018
PHF21A2Feb 8, 2018
PHF65Jul 30, 2018
PHF819Jul 30, 2018
PHKA22Feb 8, 2018
PHOX2B27Jul 30, 2018
PIEZO26Feb 8, 2018
PIGA12Jul 30, 2018
PIGM1Feb 8, 2018
PIGN37Jul 30, 2018
PIGQ2Feb 8, 2018
PIGV1Nov 14, 2017
PIK3CA3Feb 8, 2018
PIK3R12Feb 8, 2018
PIK3R21Feb 8, 2018
PKD17Feb 8, 2018
PKD22Feb 8, 2018
PKDCC2Feb 8, 2018
PKHD13Feb 8, 2018
PKP290Jul 30, 2018
PLA2G65Feb 8, 2018
PLCB141Jul 30, 2018
PLCB41Feb 8, 2018
PLCG21Feb 8, 2018
PLD11Nov 14, 2017
PLEC6Feb 8, 2018
PLN4Jul 30, 2018
PLOD175Jul 30, 2018
PLP15Jul 30, 2018
PMM26Feb 8, 2018
PMP222Feb 8, 2018
PMPCA1Feb 8, 2018
PMS2890Jul 30, 2018
PNKP57Jul 30, 2018
PNPLA22Feb 8, 2018
PNPO8Jul 30, 2018
POGZ53Jul 30, 2018
POLD1426Jul 30, 2018
POLE611Jul 30, 2018
POLG73Jul 30, 2018
POLH1Feb 8, 2018
POLR1A1Feb 8, 2018
POMC2Feb 8, 2018
POMGNT11Feb 8, 2018
PORCN7Jul 30, 2018
POT146Jul 30, 2018
POU3F33Feb 8, 2018
PPM1D3Feb 8, 2018
PPP2R1A1Feb 8, 2018
PPP2R5D3Feb 8, 2018
PPP3CA1Feb 8, 2018
PPT113Jul 30, 2018
PQBP111Jul 30, 2018
PREPL1Feb 8, 2018
PRF11Feb 8, 2018
PRICKLE127Jul 30, 2018
PRKAG234Jul 30, 2018
PRKAR1A24Jul 30, 2018
PRKCG2Feb 8, 2018
PRKG145Jul 30, 2018
PRNP2Feb 8, 2018
PRODH2Feb 8, 2018
PROKR22Feb 8, 2018
PROP11Feb 8, 2018
PROS11Feb 8, 2018
PRPS15Jul 30, 2018
PRRT211Jul 30, 2018
PRUNE12Feb 8, 2018
PSAP2Feb 8, 2018
PSPH1Nov 14, 2017
PTCH1260Jul 30, 2018
PTCHD117Jul 30, 2018
PTEN475Jul 30, 2018
PTHLH1Feb 8, 2018
PTPN1137Jul 30, 2018
PUF605Feb 8, 2018
PURA23Jul 30, 2018
PYCR13Feb 8, 2018
PYGM2Feb 8, 2018
QARS2Feb 8, 2018
RAB231Feb 8, 2018
RAB39B4Jul 30, 2018
RAB3GAP12Feb 8, 2018
RAB3GAP21Feb 8, 2018
RAD2118Jul 30, 2018
RAD50991Jul 30, 2018
RAD511Feb 8, 2018
RAD51C367Jul 30, 2018
RAD51D320Jul 30, 2018
RAD54L2Nov 14, 2017
RAF140Jul 30, 2018
RAI1114Jul 30, 2018
RALA1Feb 8, 2018
RALGAPA11Feb 8, 2018
RARB1Feb 8, 2018
RARS24Feb 8, 2018
RB1163Jul 30, 2018
RBFOX21Feb 8, 2018
RBM103Feb 8, 2018
RBM2071Jul 30, 2018
RBP41Feb 8, 2018
RBPJ1Feb 8, 2018
RECQL42Feb 8, 2018
RELN6Feb 8, 2018
RERE7Feb 8, 2018
REST1Feb 8, 2018
RET267Jul 30, 2018
RFXANK1Nov 14, 2017
RHOA1Feb 8, 2018
RHOBTB21Feb 8, 2018
RICTOR1Feb 8, 2018
RIT11Feb 8, 2018
RMND12Feb 8, 2018
RNASEH2A1Feb 8, 2018
ROBO31Nov 14, 2017
RORB2Feb 8, 2018
RP11Feb 8, 2018
RPGR1Feb 8, 2018
RPL104Jul 30, 2018
RPL111Feb 8, 2018
RPL36A-HNRNPH21Jul 30, 2018
RPL51Feb 8, 2018
RPS6KA316Jul 30, 2018
RPUSD32Apr 8, 2016
RRAS1Feb 8, 2018
RSPO41Feb 8, 2018
RYR121Feb 8, 2018
RYR2240Jul 30, 2018
RYR35Feb 8, 2018
S1PR21Feb 8, 2018
SACS4Feb 8, 2018
SALL11Feb 8, 2018
SAMD93Feb 8, 2018
SAMHD11Feb 8, 2018
SASS62Feb 8, 2018
SATB228Jul 30, 2018
SBDS2Feb 8, 2018
SBF22Nov 14, 2017
SCARB216Jul 30, 2018
SCN10A1Feb 8, 2018
SCN1A84Jul 30, 2018
SCN1B25Jul 30, 2018
SCN2A81Jul 30, 2018
SCN2B3Jul 30, 2018
SCN3A5Feb 8, 2018
SCN3B14Jul 30, 2018
SCN4A2Feb 8, 2018
SCN4B13Jul 30, 2018
SCN5A229Jul 30, 2018
SCN8A67Jul 30, 2018
SCN9A2Feb 8, 2018
SCNN1B1Feb 8, 2018
SCYL11Feb 8, 2018
SDHA213Jul 30, 2018
SDHAF236Jul 30, 2018
SDHB154Jul 30, 2018
SDHC46Jul 30, 2018
SDHD68Jul 30, 2018
SEPSECS2Feb 8, 2018
SERPINA12Feb 8, 2018
SET1Feb 8, 2018
SETBP14Feb 8, 2018
SETD1A2Feb 8, 2018
SETD26Feb 8, 2018
SETD54Feb 8, 2018
SETX7Feb 8, 2018
SF3B43Feb 8, 2018
SFTPC1Feb 8, 2018
SGCD5Jul 30, 2018
SGSH3Feb 8, 2018
SH2D1A1Feb 8, 2018
SH3TC21Feb 8, 2018
SHANK21Feb 8, 2018
SHANK378Jul 30, 2018
SHH1Feb 8, 2018
SHOC21Feb 8, 2018
SHROOM415Jul 30, 2018
SI2Feb 8, 2018
SIK165Jul 30, 2018
SIN3A2Feb 8, 2018
SKI74Jul 30, 2018
SLC12A61Feb 8, 2018
SLC13A523Jul 30, 2018
SLC16A220Jul 30, 2018
SLC17A51Feb 8, 2018
SLC18A22Feb 8, 2018
SLC1A41Feb 8, 2018
SLC20A21Feb 8, 2018
SLC22A52Feb 8, 2018
SLC25A12Feb 8, 2018
SLC25A2225Jul 30, 2018
SLC25A261Feb 8, 2018
SLC25A41Feb 8, 2018
SLC26A21Feb 8, 2018
SLC27A42Nov 14, 2017
SLC2A139Jul 30, 2018
SLC2A1055Jul 30, 2018
SLC33A11Feb 8, 2018
SLC35A29Jul 30, 2018
SLC37A41Feb 8, 2018
SLC45A22Feb 8, 2018
SLC4A11Feb 8, 2018
SLC4A32Feb 8, 2018
SLC52A22Feb 8, 2018
SLC52A32Feb 8, 2018
SLC5A11Feb 8, 2018
SLC5A71Feb 8, 2018
SLC6A136Jul 30, 2018
SLC6A827Jul 30, 2018
SLC9A12Feb 8, 2018
SLC9A614Jul 30, 2018
SLIT21Nov 14, 2017
SMAD22Feb 8, 2018
SMAD352Jul 30, 2018
SMAD4214Jul 30, 2018
SMARCA11Feb 8, 2018
SMARCA258Jul 30, 2018
SMARCA4782Jul 30, 2018
SMARCB129Jul 30, 2018
SMARCE127Jul 30, 2018
SMC1A27Jul 30, 2018
SMC324Jul 30, 2018
SMG91Feb 8, 2018
SMS11Jul 30, 2018
SNAP256Jul 30, 2018
SNTA139Jul 30, 2018
SON7Feb 8, 2018
SOS15Feb 8, 2018
SOX101Feb 8, 2018
SOX114Feb 8, 2018
SOX23Feb 8, 2018
SOX37Jul 30, 2018
SOX51Feb 8, 2018
SOX92Feb 8, 2018
SPART1Feb 8, 2018
SPAST5Feb 8, 2018
SPG73Feb 8, 2018
SPNS23Feb 8, 2018
SPRED12Feb 8, 2018
SPTAN187Jul 30, 2018
SPTBN23Feb 8, 2018
SPTBN41Feb 8, 2018
SPTLC11Feb 8, 2018
SRCAP3Feb 8, 2018
SRD5A31Feb 8, 2018
SRI1Nov 14, 2017
SRPX23Jul 30, 2018
ST3GAL312Jul 30, 2018
STAG12Feb 8, 2018
STAG22Feb 8, 2018
STAT11Feb 8, 2018
STAT21Nov 14, 2017
STAT31Feb 8, 2018
STIL3Nov 14, 2017
STK11503Jul 30, 2018
STS1Feb 8, 2018
STX1B8Jul 30, 2018
STXBP133Jul 30, 2018
SUFU32Jul 30, 2018
SUMF11Feb 8, 2018
SURF14Feb 8, 2018
SV2A1Nov 14, 2017
SYN119Jul 30, 2018
SYNGAP170Jul 30, 2018
SYNJ11Feb 8, 2018
SYP3Jul 30, 2018
SYT11Feb 8, 2018
SZT2133Jul 30, 2018
TAF12Feb 8, 2018
TANGO21Feb 8, 2018
TAZ5Jul 30, 2018
TBC1D2440Jul 30, 2018
TBCD2Feb 8, 2018
TBCE2Feb 8, 2018
TBCK1Feb 8, 2018
TBL1XR115Jul 30, 2018
TBR117Jul 30, 2018
TBX126Jul 30, 2018
TBX191Feb 8, 2018
TBX21Feb 8, 2018
TBX2018Jul 30, 2018
TBX31Feb 8, 2018
TBX526Jul 30, 2018
TBX61Feb 8, 2018
TCAP16Jul 30, 2018
TCF121Feb 8, 2018
TCF204Feb 8, 2018
TCF431Jul 30, 2018
TCN22Feb 8, 2018
TECTA2Feb 8, 2018
TFAP2A4Feb 8, 2018
TGDS3Feb 8, 2018
TGFB228Jul 30, 2018
TGFB347Jul 30, 2018
TGFBR156Jul 30, 2018
TGFBR240Jul 30, 2018
TGM52Feb 8, 2018
TGM61Nov 14, 2017
TH4Feb 8, 2018
THAP11Feb 8, 2018
THOC24Feb 8, 2018
THOC65Feb 8, 2018
THPO1Feb 8, 2018
THRA2Feb 8, 2018
THRB1Feb 8, 2018
TIMM501Feb 8, 2018
TLK21Feb 8, 2018
TMCO12Feb 8, 2018
TMEM12755Jul 30, 2018
TMEM2161Feb 8, 2018
TMEM2311Nov 14, 2017
TMEM4342Jul 30, 2018
TMEM675Feb 8, 2018
TMPO36Jul 30, 2018
TMPRSS31Feb 8, 2018
TMPRSS62Feb 8, 2018
TNFRSF1A3Feb 8, 2018
TNNC17Jul 30, 2018
TNNI324Jul 30, 2018
TNNT11Feb 8, 2018
TNNT234Jul 30, 2018
TNNT31Feb 8, 2018
TNXB6Feb 8, 2018
TP53644Jul 30, 2018
TP632Feb 8, 2018
TPK11Feb 8, 2018
TPM127Jul 30, 2018
TPM21Feb 8, 2018
TPM31Feb 8, 2018
TPP141Jul 30, 2018
TRAK11Feb 8, 2018
TRAPPC968Jul 30, 2018
TRDN54Jul 30, 2018
TRIM631Feb 8, 2018
TRIO10Feb 8, 2018
TRIOBP2Feb 8, 2018
TRIP124Feb 8, 2018
TRIT11Feb 8, 2018
TRMT10A1Feb 8, 2018
TRMU3Feb 8, 2018
TRPM449Jul 30, 2018
TRPS12Feb 8, 2018
TRPV410Feb 8, 2018
TSC1232Jul 30, 2018
TSC2651Jul 30, 2018
TSEN541Feb 8, 2018
TSHR1Nov 14, 2017
TSPAN73Jul 30, 2018
TTN1307Jul 30, 2018
TTR13Jul 30, 2018
TUBA1A10Feb 8, 2018
TUBB1Feb 8, 2018
TUBB2A1Feb 8, 2018
TUBB32Feb 8, 2018
TUBB4A3Feb 8, 2018
TUBGCP62Feb 8, 2018
TUSC310Jul 30, 2018
TWIST11Feb 8, 2018
TWIST21Feb 8, 2018
TXNRD253Jul 30, 2018
TYR3Feb 8, 2018
UBA21Feb 8, 2018
UBE2A4Jul 30, 2018
UBE3A37Jul 30, 2018
UBE3B3Feb 8, 2018
UGT1A12Feb 8, 2018
UMOD1Feb 8, 2018
UNC45B1Feb 8, 2018
UNC801Feb 8, 2018
UPF3B6Jul 30, 2018
USH2A9Feb 8, 2018
USP9X8Feb 8, 2018
VANGL13Jul 30, 2018
VARS23Feb 8, 2018
VCL47Jul 30, 2018
VHL129Jul 30, 2018
VMA211Feb 8, 2018
VPS13B144Jul 30, 2018
VPS33B2Feb 8, 2018
VPS351Nov 14, 2017
VRK15Feb 8, 2018
VWF3Feb 8, 2018
WAC3Feb 8, 2018
WARS25Feb 8, 2018
WASHC41Nov 14, 2017
WDR263Feb 8, 2018
WDR4510Jul 30, 2018
WDR622Feb 8, 2018
WDR721Feb 8, 2018
WDR811Feb 8, 2018
WFS11Feb 8, 2018
WNK21Feb 8, 2018
WNT10A4Feb 8, 2018
XK1Feb 8, 2018
XRCC224Jul 30, 2018
XYLT11Feb 8, 2018
XYLT22Feb 8, 2018
YY11Feb 8, 2018
ZBTB185Feb 8, 2018
ZBTB205Feb 8, 2018
ZC4H28Jul 30, 2018
ZDHHC92Jul 30, 2018
ZEB246Jul 30, 2018
ZFHX32Nov 14, 2017
ZFYVE262Feb 8, 2018
ZIC31Feb 8, 2018
ZMYM31Feb 8, 2018
ZMYND115Feb 8, 2018
ZNF3354Feb 8, 2018
ZNF4071Feb 8, 2018
ZNF4112Jul 30, 2018
ZNF6743Jul 30, 2018
ZNF7116Jul 30, 2018
ZNF819Jul 30, 2018
ZSWIM61Feb 8, 2018

Testing in GTR

Disease nameNumber of tests
22q13.3 deletion syndrome3 tests
3-Methylglutaconic aciduria type 25 tests
ATR-X syndrome3 tests
Aarskog syndrome3 tests
Aase syndrome2 tests
Acquired hemoglobin H disease3 tests
Acrodysostosis 1 with or without hormone resistance3 tests
Acromicric dysplasia5 tests
Acute lymphoid leukemia12 tests
Acute myeloid leukemia13 tests
Adams-Oliver syndrome 54 tests
Adrenocortical carcinoma, hereditary19 tests
Adrenoleukodystrophy3 tests
Adult neuronal ceroid lipofuscinosis4 tests
Alagille syndrome 12 tests
Albinism, ocular, with sensorineural deafness3 tests
Allan-Herndon-Dudley syndrome4 tests
Alpha-B crystallinopathy3 tests
Alternating hemiplegia of childhood 15 tests
Amyloidogenic transthyretin amyloidosis7 tests
Andersen Tawil syndrome6 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency6 tests
Angelman syndrome6 tests
Aortic aneurysm, familial thoracic 44 tests
Aortic aneurysm, familial thoracic 64 tests
Aortic aneurysm, familial thoracic 74 tests
Aortic aneurysm, familial thoracic 84 tests
Aortic valve disorder4 tests
Aplastic anemia13 tests
Arginine:glycine amidinotransferase deficiency5 tests
Arrhythmogenic right ventricular cardiomyopathy, type 106 tests
Arrhythmogenic right ventricular cardiomyopathy, type 116 tests
Arrhythmogenic right ventricular cardiomyopathy, type 126 tests
Arrhythmogenic right ventricular cardiomyopathy, type 56 tests
Arrhythmogenic right ventricular cardiomyopathy, type 86 tests
Arrhythmogenic right ventricular cardiomyopathy, type 96 tests
Arrhythmogenic right ventricular dysplasia, familial 19 tests
Arrhythmogenic right ventricular dysplasia, familial, 27 tests
Arterial tortuosity syndrome4 tests
Asperger syndrome X-linked 15 tests
Asperger syndrome X-linked 25 tests
Ataxia-oculomotor apraxia 45 tests
Ataxia-telangiectasia syndrome14 tests
Ataxia-telangiectasia-like disorder 111 tests
Athabaskan brainstem dysgenesis3 tests
Atrial fibrillation, familial, 107 tests
Atrial fibrillation, familial, 124 tests
Atrial fibrillation, familial, 1310 tests
Atrial fibrillation, familial, 142 tests
Atrial fibrillation, familial, 35 tests
Atrial fibrillation, familial, 45 tests
Atrial fibrillation, familial, 96 tests
Atrial myxoma, familial3 tests
Atrial septal defect 22 tests
Atrial septal defect 36 tests
Atrial septal defect 44 tests
Atrial septal defect 57 tests
Atrial septal defect 7 with or without atrioventricular conduction defects6 tests
Atrioventricular septal defect 42 tests
Atrophia bulborum hereditaria4 tests
Autism 156 tests
Autism, susceptibility to, 184 tests
Autism, susceptibility to, X-linked 15 tests
Autism, susceptibility to, X-linked 25 tests
Autism, susceptibility to, X-linked 38 tests
Autism, susceptibility to, X-linked 44 tests
Autism, susceptibility to, X-linked 53 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 15 tests
Bannayan-Riley-Ruvalcaba syndrome21 tests
Basal cell carcinoma, multiple5 tests
Basal cell carcinoma, susceptibility to, 719 tests
Becker muscular dystrophy5 tests
Benign familial neonatal seizures 16 tests
Benign familial neonatal seizures 25 tests
Benign familial neonatal-infantile seizures8 tests
Benign scapuloperoneal muscular dystrophy with cardiomyopathy8 tests
Bladder cancer, somatic11 tests
Bloom syndrome2 tests
Borjeson-Forssman-Lehmann syndrome4 tests
Breast-ovarian cancer, familial 118 tests
Breast-ovarian cancer, familial 220 tests
Breast-ovarian cancer, familial 311 tests
Breast-ovarian cancer, familial 412 tests
Bronchiectasis with or without elevated sweat chloride 14 tests
Brugada syndrome 17 tests
Brugada syndrome 24 tests
Brugada syndrome 38 tests
Brugada syndrome 44 tests
Brugada syndrome 510 tests
Brugada syndrome 64 tests
Brugada syndrome 74 tests
Brugada syndrome 84 tests
Brugada syndrome 94 tests
CHARGE association5 tests
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm4 tests
Capillary malformation-arteriovenous malformation1 test
Carcinoid tumor of intestine4 tests
Carcinoma of colon25 tests
Carcinoma of pancreas30 tests
Cardiac arrhythmia, ankyrin B-related6 tests
Cardiac valvular dysplasia, X-linked9 tests
Cardiofaciocutaneous syndrome 15 tests
Cardiofaciocutaneous syndrome 27 tests
Cardiomyopathy, dilated, 1NN7 tests
Cardiomyopathy, dilated, 2b3 tests
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis6 tests
Carney complex, type 13 tests
Carpal tunnel syndrome7 tests
Cataract 16, multiple types3 tests
Cataract 404 tests
Catecholaminergic polymorphic ventricular tachycardia type 17 tests
Cerebellar ataxia infantile with progressive external ophthalmoplegia5 tests
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 33 tests
Cerebral arteriovenous malformation7 tests
Cerebral folate deficiency6 tests
Ceroid lipofuscinosis neuronal 15 tests
Ceroid lipofuscinosis neuronal 105 tests
Ceroid lipofuscinosis neuronal 24 tests
Ceroid lipofuscinosis neuronal 4B autosomal dominant4 tests
Ceroid lipofuscinosis neuronal 54 tests
Ceroid lipofuscinosis neuronal 64 tests
Ceroid lipofuscinosis neuronal 74 tests
Ceroid lipofuscinosis neuronal 84 tests
Ceroid lipofuscinosis, neuronal, 114 tests
Ceroid lipofuscinosis, neuronal, 134 tests
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant4 tests
Charcot-Marie-Tooth disease type 2B18 tests
Charcot-Marie-Tooth disease, axonal, type 2O5 tests
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia4 tests
Choroid plexus papilloma19 tests
Christianson syndrome7 tests
Chromosome 2q32-q33 deletion syndrome3 tests
Chromosome 9q deletion syndrome3 tests
Ciliary dyskinesia, primary, 101 test
Ciliary dyskinesia, primary, 111 test
Ciliary dyskinesia, primary, 121 test
Ciliary dyskinesia, primary, 131 test
Ciliary dyskinesia, primary, 141 test
Ciliary dyskinesia, primary, 151 test
Ciliary dyskinesia, primary, 171 test
Ciliary dyskinesia, primary, 181 test
Ciliary dyskinesia, primary, 191 test
Ciliary dyskinesia, primary, 21 test
Ciliary dyskinesia, primary, 201 test
Ciliary dyskinesia, primary, 281 test
Ciliary dyskinesia, primary, 31 test
Ciliary dyskinesia, primary, 61 test
Ciliary dyskinesia, primary, 71 test
Ciliary dyskinesia, primary, 91 test
Coffin-Lowry syndrome3 tests
Coffin-Siris syndrome 14 tests
Coffin-Siris syndrome 53 tests
Cognitive impairment with or without cerebellar ataxia8 tests
Cohen syndrome3 tests
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness3 tests
Colorectal cancer 12 tests
Colorectal cancer 107 tests
Cone-rod dystrophy, X-linked 11 test
Congenital bilateral absence of the vas deferens4 tests
Congenital central hypoventilation6 tests
Congenital contractural arachnodactyly4 tests
Congenital giant melanocytic nevus5 tests
Congenital muscular dystrophy, LMNA-related8 tests
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B44 tests
Congenital muscular hypertrophy-cerebral syndrome8 tests
Conotruncal heart malformations6 tests
Corneal dystrophy, Fuchs endothelial, 36 tests
Cornelia de Lange syndrome 15 tests
Cornelia de Lange syndrome 35 tests
Cornelia de Lange syndrome 45 tests
Cornelia de Lange syndrome 55 tests
Corpus callosum, partial agenesis of, X-linked3 tests
Cowden syndrome4 tests
Cowden syndrome 121 tests
Cowden syndrome 34 tests
Creatine deficiency, X-linked4 tests
Cutaneous malignant melanoma 121 tests
Cutaneous malignant melanoma 29 tests
Cutaneous malignant melanoma 38 tests
Cutaneous malignant melanoma 83 tests
Cutaneous malignant melanoma 92 tests
Cutis laxa, X-linked3 tests
Cystic fibrosis4 tests
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome10 tests
Danon disease9 tests
Deafness, autosomal dominant 104 tests
Deafness, autosomal dominant 654 tests
Deafness, autosomal recessive 864 tests
Deafness, autosomal recessive 973 tests
Deficiency of guanidinoacetate methyltransferase5 tests
Dent disease 23 tests
Desmoid disease, hereditary10 tests
Developmental delay1 test
DiGeorge sequence2 tests
Diabetes mellitus type 11 test
Diabetes mellitus type 21 test
Diabetes mellitus, insulin-dependent, 201 test
Diamond-Blackfan anemia 11 test
Diamond-Blackfan anemia 101 test
Diamond-Blackfan anemia 111 test
Diamond-Blackfan anemia 31 test
Diamond-Blackfan anemia 41 test
Diamond-Blackfan anemia 52 tests
Diamond-Blackfan anemia 72 tests
Diamond-Blackfan anemia 81 test
Diamond-Blackfan anemia 91 test
Diarrhea 5, with tufting enteropathy, congenital20 tests
Digitorenocerebral syndrome4 tests
Dilated cardiomyopathy 1A8 tests
Dilated cardiomyopathy 1AA6 tests
Dilated cardiomyopathy 1BB6 tests
Dilated cardiomyopathy 1C5 tests
Dilated cardiomyopathy 1CC6 tests
Dilated cardiomyopathy 1DD4 tests
Dilated cardiomyopathy 1E7 tests
Dilated cardiomyopathy 1EE6 tests
Dilated cardiomyopathy 1FF6 tests
Dilated cardiomyopathy 1G4 tests
Dilated cardiomyopathy 1HH4 tests
Dilated cardiomyopathy 1I4 tests
Dilated cardiomyopathy 1II3 tests
Dilated cardiomyopathy 1J4 tests
Dilated cardiomyopathy 1JJ4 tests
Dilated cardiomyopathy 1KK6 tests
Dilated cardiomyopathy 1M6 tests
Dilated cardiomyopathy 1N9 tests
Dilated cardiomyopathy 1O4 tests
Dilated cardiomyopathy 1P6 tests
Dilated cardiomyopathy 1R7 tests
Dilated cardiomyopathy 1S8 tests
Dilated cardiomyopathy 1W6 tests
Dilated cardiomyopathy 1X4 tests
Dilated cardiomyopathy 1Y7 tests
Dilated cardiomyopathy 1Z6 tests
Dilated cardiomyopathy 2A6 tests
Dilated cardiomyopathy 3B5 tests
Dilated cardiomyopathy with woolly hair and keratoderma6 tests
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome8 tests
Distal myopathy Markesbery-Griggs type4 tests
Distal myopathy, Tateyama type5 tests
Distal spinal muscular atrophy, X-linked 33 tests
Duchenne muscular dystrophy5 tests
Dyskeratosis congenita X-linked1 test
Dyskeratosis congenita autosomal dominant2 tests
Dyskeratosis congenita autosomal recessive 11 test
Dyskeratosis congenita, autosomal dominant, 22 tests
Dyskeratosis congenita, autosomal dominant, 31 test
Dyskeratosis congenita, autosomal recessive 21 test
Dyskeratosis congenita, autosomal recessive, 32 tests
Dystonia 108 tests
Dystonia 96 tests
Dystransthyretinemic euthyroidal hyperthyroxinemia7 tests
Early infantile epileptic encephalopathy 105 tests
Early infantile epileptic encephalopathy 118 tests
Early infantile epileptic encephalopathy 124 tests
Early infantile epileptic encephalopathy 138 tests
Early infantile epileptic encephalopathy 147 tests
Early infantile epileptic encephalopathy 155 tests
Early infantile epileptic encephalopathy 164 tests
Early infantile epileptic encephalopathy 175 tests
Early infantile epileptic encephalopathy 184 tests
Early infantile epileptic encephalopathy 28 tests
Early infantile epileptic encephalopathy 47 tests
Early infantile epileptic encephalopathy 55 tests
Early infantile epileptic encephalopathy 76 tests
Early infantile epileptic encephalopathy 86 tests
Early infantile epileptic encephalopathy 98 tests
Early myoclonic encephalopathy6 tests
Ectopia lentis, isolated, autosomal dominant5 tests
Ectropion inferior cleft lip and or palate13 tests
Ehlers-Danlos syndrome, classic type4 tests
Ehlers-Danlos syndrome, hydroxylysine-deficient4 tests
Ehlers-Danlos syndrome, type 45 tests
Elevated serum creatine phosphokinase5 tests
Emery-Dreifuss muscular dystrophy 1, X-linked3 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive8 tests
Emery-Dreifuss muscular dystrophy 7, autosomal dominant6 tests
Endometrial carcinoma29 tests
Enlarged vestibular aqueduct5 tests
Epidermal nevus5 tests
Epidermal nevus syndrome7 tests
Epidermolysis bullosa, lethal acantholytic6 tests
Epilepsy, X-linked, with variable learning disabilities and behavior disorders5 tests
Epilepsy, childhood absence 25 tests
Epilepsy, childhood absence 55 tests
Epilepsy, familial focal, with variable foci 16 tests
Epilepsy, focal, with speech disorder and with or without mental retardation7 tests
Epilepsy, idiopathic generalized, susceptibility to, 126 tests
Epilepsy, juvenile myoclonic 55 tests
Epilepsy, lateral temporal lobe, autosomal dominant5 tests
Epilepsy, nocturnal frontal lobe, 57 tests
Epilepsy, nocturnal frontal lobe, type 15 tests
Epilepsy, nocturnal frontal lobe, type 35 tests
Epilepsy, nocturnal frontal lobe, type 45 tests
Epilepsy, progressive myoclonic 34 tests
Epilepsy, progressive myoclonic 4, with or without renal failure4 tests
Epilepsy, progressive myoclonic 64 tests
Epilepsy, progressive myoclonic 74 tests
Epileptic encephalopathy, childhood-onset7 tests
Epileptic encephalopathy, early infantile, 16 tests
Epileptic encephalopathy, early infantile, 195 tests
Epileptic encephalopathy, early infantile, 246 tests
Epileptic encephalopathy, early infantile, 254 tests
Epileptic encephalopathy, early infantile, 276 tests
Epileptic encephalopathy, early infantile, 305 tests
Epileptic encephalopathy, early infantile, 316 tests
Epileptic encephalopathy, early infantile, 325 tests
Epileptic encephalopathy, early infantile, 335 tests
Epileptic encephalopathy, early infantile, 363 tests
Epileptic encephalopathy, early infantile, 426 tests
Epileptic encephalopathy, early infantile, 435 tests
Epileptic encephalopathy, early infantile, 5210 tests
Epileptic encephalopathy, early infantile, 545 tests
Episodic ataxia type 26 tests
Erythrocytosis, familial, 26 tests
FANCONI ANEMIA, COMPLEMENTATION GROUP S18 tests
FG syndrome8 tests
FG syndrome 29 tests
Fabry disease5 tests
Familial adenomatous polyposis 110 tests
Familial adenomatous polyposis 31 test
Familial cancer of breast33 tests
Familial exudative vitreoretinopathy, X-linked4 tests
Familial febrile seizures 85 tests
Familial hemiplegic migraine type 16 tests
Familial hemiplegic migraine type 25 tests
Familial hemiplegic migraine type 38 tests
Familial hyperaldosteronism type 32 tests
Familial hypercholesterolemia1 test
Familial hypertrophic cardiomyopathy 111 tests
Familial hypertrophic cardiomyopathy 105 tests
Familial hypertrophic cardiomyopathy 117 tests
Familial hypertrophic cardiomyopathy 126 tests
Familial hypertrophic cardiomyopathy 136 tests
Familial hypertrophic cardiomyopathy 146 tests
Familial hypertrophic cardiomyopathy 156 tests
Familial hypertrophic cardiomyopathy 165 tests
Familial hypertrophic cardiomyopathy 175 tests
Familial hypertrophic cardiomyopathy 186 tests
Familial hypertrophic cardiomyopathy 27 tests
Familial hypertrophic cardiomyopathy 206 tests
Familial hypertrophic cardiomyopathy 37 tests
Familial hypertrophic cardiomyopathy 48 tests
Familial hypertrophic cardiomyopathy 65 tests
Familial hypertrophic cardiomyopathy 76 tests
Familial hypertrophic cardiomyopathy 85 tests
Familial hypertrophic cardiomyopathy 94 tests
Familial hypoplastic, glomerulocystic kidney1 test
Familial medullary thyroid carcinoma4 tests
Familial partial lipodystrophy 28 tests
Familial restrictive cardiomyopathy 16 tests
Familial restrictive cardiomyopathy 37 tests
Fanconi anemia, complementation group C2 tests
Fanconi anemia, complementation group D120 tests
Fanconi anemia, complementation group J11 tests
Fanconi anemia, complementation group N15 tests
Fanconi anemia, complementation group O11 tests
Fanconi anemia, complementation group U2 tests
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1 test
Fasting plasma glucose level quantitative trait locus 44 tests
Fatal infantile hypertonic myofibrillar myopathy3 tests
Fitzsimmons-Guilbert syndrome4 tests
Focal cortical dysplasia type II12 tests
Focal dermal hypoplasia4 tests
Follicular thyroid carcinoma5 tests
Fragile X syndrome4 tests
Fragile X tremor/ataxia syndrome4 tests
Friedreich ataxia 15 tests
Frontometaphyseal dysplasia9 tests
Frontotemporal dementia, ubiquitin-positive4 tests
Fukuyama congenital muscular dystrophy4 tests
Fumarase deficiency5 tests
GLUCOCORTICOID DEFICIENCY 54 tests
GLUT1 deficiency syndrome 16 tests
GLUT1 deficiency syndrome 26 tests
Gastrointestinal stroma tumor4 tests
Geleophysic dysplasia 25 tests
Generalized epilepsy with febrile seizures plus, type 110 tests
Generalized epilepsy with febrile seizures plus, type 28 tests
Generalized epilepsy with febrile seizures plus, type 96 tests
Gingival fibromatosis 12 tests
Glioma susceptibility 119 tests
Glioma susceptibility 221 tests
Glioma susceptibility 320 tests
Glioma susceptibility 93 tests
Glycogen storage disease of heart, lethal congenital5 tests
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors10 tests
Gorlin syndrome4 tests
Heart-hand syndrome, Slovenian type8 tests
Helsmoortel-van der aa syndrome4 tests
Hepatic adenomas, familial1 test
Hepatocellular carcinoma21 tests
Hereditary diffuse gastric cancer17 tests
Hereditary disease6 tests
Hereditary hemorrhagic telangiectasia type 21 test
Hereditary mixed polyposis syndrome 28 tests
Hereditary myopathy with early respiratory failure4 tests
Hereditary nonpolyposis colorectal cancer type 420 tests
Hereditary nonpolyposis colorectal cancer type 520 tests
Hereditary nonpolyposis colorectal cancer type 64 tests
Hereditary nonpolyposis colorectal cancer type 820 tests
Hereditary pancreatitis4 tests
Hereditary sensory and autonomic neuropathy type IIC3 tests
Hirschsprung disease 14 tests
Holoprosencephaly 74 tests
Holt-Oram syndrome4 tests
Homocystinuria due to CBS deficiency4 tests
Hutchinson-Gilford syndrome8 tests
Hypercholesterolemia, autosomal dominant, 31 test
Hypercholesterolemia, autosomal dominant, type B1 test
Hypercholesterolemia, autosomal recessive1 test
Hyperinsulinemic hypoglycemia familial 31 test
Hypertrichotic osteochondrodysplasia4 tests
Hypobetalipoproteinemia, familial, 11 test
Hypoplastic left heart syndrome 26 tests
Hypothyroidism, congenital, nongoitrous, 56 tests
Infantile convulsions and paroxysmal choreoathetosis, familial8 tests
Intellectual functioning disability1 test
Intestinal pseudoobstruction neuronal chronic idiopathic X-linked9 tests
JOUBERT SYNDROME 323 tests
Jervell and Lange-Nielsen syndrome 15 tests
Jervell and Lange-Nielsen syndrome 25 tests
Joubert syndrome 104 tests
Juvenile myelomonocytic leukemia9 tests
Juvenile neuronal ceroid lipofuscinosis4 tests
Juvenile polyposis syndrome13 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome13 tests
KBG syndrome4 tests
Kallmann syndrome 55 tests
Kartagener syndrome1 test
Keratosis palmoplantaris striata II6 tests
LEOPARD syndrome 19 tests
LEOPARD syndrome 27 tests
LEOPARD syndrome 35 tests
Lafora disease4 tests
Left ventricular noncompaction 108 tests
Left ventricular noncompaction 67 tests
Legius syndrome1 test
Leigh syndrome4 tests
Lesch-Nyhan syndrome3 tests
Lethal tight skin contracture syndrome8 tests
Li-Fraumeni syndrome 119 tests
Li-Fraumeni syndrome 215 tests
Limb-girdle muscular dystrophy, type 1B8 tests
Limb-girdle muscular dystrophy, type 1C5 tests
Limb-girdle muscular dystrophy, type 2G9 tests
Limb-girdle muscular dystrophy, type 2J4 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C44 tests
Lissencephaly 2, X-linked6 tests
Lissencephaly, X-linked5 tests
Loeys-Dietz syndrome 14 tests
Loeys-Dietz syndrome 24 tests
Loeys-Dietz syndrome 34 tests
Loeys-Dietz syndrome 59 tests
Long QT syndrome 15 tests
Long QT syndrome 105 tests
Long QT syndrome 115 tests
Long QT syndrome 125 tests
Long QT syndrome 132 tests
Long QT syndrome 145 tests
Long QT syndrome 25 tests
Long QT syndrome 37 tests
Long QT syndrome 55 tests
Long QT syndrome 65 tests
Long QT syndrome 95 tests
Lowe syndrome3 tests
Lung cancer7 tests
Lymphangiomyomatosis12 tests
Lynch syndrome I21 tests
Lynch syndrome II22 tests
MASS syndrome5 tests
MECP2 duplication syndrome8 tests
MENTAL RETARDATION, X-LINKED, SYNDROMIC, 354 tests
MYH-associated polyposis13 tests
Macrocephaly/autism syndrome21 tests
Macular degeneration, X-linked atrophic1 test
Macular degeneration, early-onset4 tests
Macular dystrophy with central cone involvement4 tests
Malignant tumor of esophagus4 tests
Malignant tumor of prostate31 tests
Malignant tumor of testis12 tests
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome7 tests
Mandibuloacral dysostosis8 tests
Marfan lipodystrophy syndrome5 tests
Marfan syndrome5 tests
Maturity-onset diabetes of the young, type 11 test
Maturity-onset diabetes of the young, type 21 test
Maturity-onset diabetes of the young, type 31 test
Maturity-onset diabetes of the young, type 41 test
Medulloblastoma21 tests
Melanoma astrocytoma syndrome9 tests
Melanoma, cutaneous malignant, susceptibility to, 103 tests
Melanoma-pancreatic cancer syndrome9 tests
Melnick-Needles syndrome9 tests
Meningioma, familial22 tests
Menkes kinky-hair syndrome3 tests
Mental retardation 30, X-linked4 tests
Mental retardation 63, X-linked4 tests
Mental retardation 9, X-linked3 tests
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance4 tests
Mental retardation and microcephaly with pontine and cerebellar hypoplasia6 tests
Mental retardation with language impairment and with or without autistic features4 tests
Mental retardation, X-linked 15 tests
Mental retardation, X-linked 1023 tests
Mental retardation, X-linked 193 tests
Mental retardation, X-linked 724 tests
Mental retardation, X-linked 934 tests
Mental retardation, X-linked 986 tests
Mental retardation, X-linked, syndromic 138 tests
Mental retardation, X-linked, syndromic, turner type4 tests
Mental retardation, X-linked, syndromic, wu type5 tests
Mental retardation, autosomal dominant 13 tests
Mental retardation, autosomal dominant 135 tests
Mental retardation, autosomal dominant 156 tests
Mental retardation, autosomal dominant 1612 tests
Mental retardation, autosomal dominant 213 tests
Mental retardation, autosomal dominant 315 tests
Mental retardation, autosomal dominant 323 tests
Mental retardation, autosomal dominant 385 tests
Mental retardation, autosomal dominant 56 tests
Mental retardation, autosomal dominant 66 tests
Mental retardation, autosomal dominant 76 tests
Mental retardation, autosomal dominant 93 tests
Mental retardation, autosomal recessive 125 tests
Mental retardation, autosomal recessive 133 tests
Mental retardation, autosomal recessive 153 tests
Mental retardation, autosomal recessive 183 tests
Mental retardation, autosomal recessive 273 tests
Mental retardation, autosomal recessive 33 tests
Mental retardation, autosomal recessive 53 tests
Mental retardation, autosomal recessive 73 tests
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations6 tests
Mental retardation, syndromic 14, X-linked5 tests
Mental retardation, syndromic, Claes-Jensen type, X-linked4 tests
Mental retardation, with or without seizures, ARX-related, X-linked6 tests
Mental retardation-hypotonic facies syndrome X-linked, 14 tests
Metachondromatosis9 tests
Microcephaly, normal intelligence and immunodeficiency12 tests
Mitochondrial DNA depletion syndrome 4B, MNGIE type5 tests
Mitochondrial complex I deficiency4 tests
Mitochondrial complex II deficiency4 tests
Mohr-Tranebjaerg syndrome4 tests
Monoamine oxidase A deficiency3 tests
Mowat-Wilson syndrome6 tests
Moyamoya disease 54 tests
Mucopolysaccharidosis, MPS-II3 tests
Muir-Torré syndrome24 tests
Multiple congenital anomalies1 test
Multiple congenital anomalies-hypotonia-seizures syndrome 13 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 25 tests
Multiple cutaneous leiomyomas5 tests
Multiple endocrine neoplasia, type 15 tests
Multiple endocrine neoplasia, type 2a4 tests
Multiple endocrine neoplasia, type 2b4 tests
Multiple endocrine neoplasia, type 43 tests
Multiple fibrofolliculomas4 tests
Multiple self healing squamous epithelioma4 tests
Multisystemic smooth muscle dysfunction syndrome4 tests
Muscular dystrophy, limb-girdle, type 2R4 tests
Myasthenic syndrome, congenital, 184 tests
Myhre syndrome13 tests
Myoclonic epilepsy, familial infantile4 tests
Myoclonic-atonic epilepsy4 tests
Myofibrillar myopathy 14 tests
Myofibrillar myopathy, BAG3-related4 tests
Myofibrillar myopathy, ZASP-related5 tests
Myopathy, distal, 18 tests
Myopathy, early-onset, with fatal cardiomyopathy4 tests
Myopathy, myosin storage, autosomal recessive8 tests
Myosin storage myopathy8 tests
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE6 tests
Nance-Horan syndrome4 tests
Nasopharyngeal carcinoma19 tests
Naxos disease6 tests
Nemaline myopathy 11, autosomal recessive6 tests
Neoplasm of ovary13 tests
Neoplasm of stomach16 tests
Neural tube defect4 tests
Neuroblastoma 24 tests
Neuroblastoma 32 tests
Neurocutaneous melanosis5 tests
Neurodegeneration with brain iron accumulation 55 tests
Neurodevelopmental disorder with involuntary movements5 tests
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant6 tests
Neurofibromatosis, type 112 tests
Neurofibromatosis, type 24 tests
Nicolaides-Baraitser syndrome3 tests
Nijmegen breakage syndrome-like disorder9 tests
Noonan syndrome 19 tests
Noonan syndrome 37 tests
Noonan syndrome 42 tests
Noonan syndrome 57 tests
Noonan syndrome 65 tests
Noonan syndrome 75 tests
Ohdo syndrome, X-linked8 tests
Opitz-Frias syndrome3 tests
Oral-facial-digital syndrome4 tests
Ornithine carbamoyltransferase deficiency3 tests
Osler hemorrhagic telangiectasia syndrome1 test
Osteofibrous dysplasia3 tests
Osteosarcoma22 tests
Oto-palato-digital syndrome, type I9 tests
Oto-palato-digital syndrome, type II9 tests
Pancreatic agenesis, congenital1 test
Pancreatic cancer 220 tests
Pancreatic cancer 315 tests
Pancreatic cancer 418 tests
Paraganglioma and gastric stromal sarcoma4 tests
Paragangliomas 14 tests
Paragangliomas 23 tests
Paragangliomas 34 tests
Paragangliomas 44 tests
Paragangliomas 54 tests
Parkes Weber syndrome1 test
Parkinson disease 94 tests
Parkinsonism, early onset with mental retardation4 tests
Paroxysmal familial ventricular fibrillation 17 tests
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency3 tests
Partington X-linked mental retardation syndrome6 tests
Pelizaeus-Merzbacher disease3 tests
Periventricular nodular heterotopia 19 tests
Permanent neonatal diabetes mellitus1 test
Pettigrew syndrome4 tests
Peutz-Jeghers syndrome12 tests
Pheochromocytoma7 tests
Pierpont syndrome4 tests
Pigmented nodular adrenocortical disease, primary, 13 tests
Pilomatrixoma13 tests
Pitt-Hopkins syndrome6 tests
Pitt-Hopkins-like syndrome 16 tests
Pitt-Hopkins-like syndrome 26 tests
Pneumothorax, primary spontaneous4 tests
Premature ovarian failure 14 tests
Primary ciliary dyskinesia 231 test
Progressive familial heart block type 1A7 tests
Progressive familial heart block type 1B4 tests
Progressive myoclonus epilepsy with ataxia4 tests
Progressive sclerosing poliodystrophy5 tests
Prostate cancer, hereditary, 96 tests
Proud Levine Carpenter syndrome6 tests
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 12 tests
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 22 tests
Pyridoxal 5'-phosphate-dependent epilepsy6 tests
Pyridoxine-dependent epilepsy5 tests
Pyruvate dehydrogenase E1-alpha deficiency4 tests
RAS-associated autoimmune leukoproliferative disorder7 tests
Renal cell carcinoma, nonpapillary8 tests
Renal cell carcinoma, papillary, 13 tests
Renpenning syndrome 14 tests
Retinal dystrophy, reticular pigmentary, of posterior pole7 tests
Retinitis Pigmentosa 234 tests
Retinitis pigmentosa 151 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
Retinoblastoma4 tests
Rett syndrome8 tests
Rett syndrome, congenital variant8 tests
Revesz syndrome1 test
Rhabdoid tumor predisposition syndrome 16 tests
Rhabdoid tumor predisposition syndrome 212 tests
Rhabdomyosarcoma, embryonal, 210 tests
Rippling muscle disease5 tests
Rotor syndrome1 test
Rubinstein-Taybi syndrome4 tests
SUDDEN INFANT DEATH SYNDROME7 tests
Sacral agenesis with vertebral anomalies4 tests
Scapuloperoneal myopathy, MYH7-related8 tests
Scapuloperoneal syndrome, neurogenic, Kaeser type4 tests
Schizophrenia 153 tests
Schizophrenia 176 tests
Schuurs-hoeijmakers syndrome3 tests
Schwannomatosis 17 tests
SeSAME syndrome5 tests
Seizures, benign familial infantile, 28 tests
Seizures, benign familial infantile, 58 tests
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis5 tests
Severe myoclonic epilepsy in infancy8 tests
Severe neonatal-onset encephalopathy with microcephaly8 tests
Short QT syndrome 15 tests
Short QT syndrome 25 tests
Short QT syndrome 36 tests
Shprintzen syndrome2 tests
Shprintzen-Goldberg syndrome4 tests
Shwachman syndrome1 test
Sick sinus syndrome 1, autosomal recessive7 tests
Sick sinus syndrome 2, autosomal dominant4 tests
Sick sinus syndrome 3, susceptibility to6 tests
Siderius X-linked mental retardation syndrome4 tests
Simpson-Golabi-Behmel syndrome3 tests
Simpson-Golabi-Behmel syndrome, type 24 tests
Skin fragility woolly hair syndrome6 tests
Small cell lung cancer4 tests
Smith-Lemli-Opitz syndrome3 tests
Smith-Magenis syndrome4 tests
Snyder Robinson syndrome1 test
Somatotroph adenoma2 tests
Sotos syndrome 14 tests
Spastic paraplegia 13 tests
Spastic paraplegia 23 tests
Spastic paraplegia 30, autosomal recessive3 tests
Spastic paraplegia 47, autosomal recessive3 tests
Spastic paraplegia 78, autosomal recessive4 tests
Speech-language disorder 13 tests
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant5 tests
Spinocerebellar ataxia 194 tests
Spinocerebellar ataxia 66 tests
Squamous cell carcinoma of the head and neck21 tests
Stiff skin syndrome5 tests
Stomatin-deficient cryohydrocytosis with neurologic defects6 tests
Surfactant metabolism dysfunction, pulmonary, 11 test
Surfactant metabolism dysfunction, pulmonary, 21 test
Surfactant metabolism dysfunction, pulmonary, 31 test
Syndromic X-linked mental retardation, Cabezas type4 tests
Syndromic mental retardation, Nascimento type, X-linked4 tests
Telangiectasia, hereditary hemorrhagic, type 51 test
Terminal osseous dysplasia9 tests
Testicular anomalies with or without congenital heart disease2 tests
Tetralogy of Fallot6 tests
Tietz syndrome3 tests
Timothy syndrome8 tests
Tobacco addiction, susceptibility to5 tests
Tropical calcific pancreatitis1 test
Trypsinogen deficiency1 test
Tuberous sclerosis 112 tests
Tuberous sclerosis 212 tests
Tumor susceptibility linked to germline BAP1 mutations5 tests
Turcot syndrome26 tests
Unverricht-Lundborg syndrome5 tests
VACTERL association with hydrocephalus21 tests
Ventricular septal defect 12 tests
Ventricular septal defect 36 tests
Ventricular tachycardia, catecholaminergic polymorphic, 25 tests
Ventricular tachycardia, catecholaminergic polymorphic, 45 tests
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness5 tests
Von Hippel-Lindau syndrome6 tests
Waardenburg syndrome type 2A3 tests
Weill-Marchesani syndrome 25 tests
White-sutton syndrome3 tests
Wieacker Wolff syndrome3 tests
Wilms tumor 123 tests
Wolff-Parkinson-White pattern5 tests
X-Linked Mental Retardation 414 tests
X-Linked mental retardation 904 tests
X-linked hydrocephalus syndrome3 tests
X-linked mental retardation with marfanoid habitus syndrome8 tests
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