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Genomic Diagnostic Laboratory, Division of Genomic Diagnostics (Children's Hospital of Philadelphia)

General information

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics
Children's Hospital of Philadelphia
3615 Civic Center Blvd
Abramson Research Center, 714J
Philadelphia
Pennsylvania
United States - 19104
http://www.chop.edu/centers-programs/division-genomic-diagnostics
Organization ID: 165021

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1924

Gene

GeneSubmissionsLast Updated
A2ML11Jan 6, 2016
AASS2Jan 6, 2016
ABCA131Aug 10, 2015
ABCA71Jan 6, 2016
ABCB11Jan 6, 2016
ABCC810Oct 28, 2015
ABCD14Jan 6, 2016
ABHD14A-ACY11Jan 6, 2016
ACP61Aug 10, 2015
ACY11Jan 6, 2016
ADARB11Jan 6, 2016
ADGRV15Jan 6, 2016
ADNP1Jan 6, 2016
ADSL2Jan 6, 2016
AFDN1Aug 10, 2015
AGPS1Aug 10, 2015
AGRN1Jan 6, 2016
AHCY2Aug 10, 2015
AHDC11Aug 10, 2015
AHI11Jan 6, 2016
AIRE1Jan 6, 2016
AKAP91Aug 10, 2015
ALDH5A11Jan 6, 2016
ALDOA1Jan 6, 2016
ALG111Aug 10, 2015
ALG131Aug 10, 2015
ALG21Aug 10, 2015
ALG61Jan 6, 2016
ALG84Jan 6, 2016
ALK15Nov 10, 2015
ALMS14Jan 6, 2016
ALX11Oct 24, 2016
ALX41Oct 24, 2016
AMT2Jan 6, 2016
ANK21Aug 10, 2015
ANK36Jan 6, 2016
ANKRD113Aug 10, 2015
AOPEP2Aug 10, 2015
AP4B13Jan 6, 2016
AP4B1-AS12Aug 10, 2015
AP4M11Aug 10, 2015
AP4S13Aug 10, 2015
APC18Jan 6, 2016
APOB24Jan 6, 2016
APTX1Aug 10, 2015
AQP41Jan 6, 2016
ARHGAP292Aug 10, 2015
ARID1B2Aug 10, 2015
ARID21Aug 10, 2015
ARX3Mar 23, 2015
ASXL32Aug 10, 2015
ATF21Aug 10, 2015
ATM4Jan 6, 2016
ATP10A1Aug 10, 2015
ATP1A32Jan 6, 2016
ATP5F1A1Aug 10, 2015
ATP5MF-PTCD11Aug 10, 2015
ATP6V0A42Aug 10, 2015
ATP6V1B11Jan 6, 2016
ATP8A22Aug 10, 2015
ATR1Jan 6, 2016
ATRX2Aug 10, 2015
ATXN11Aug 10, 2015
ATXN21Aug 10, 2015
ATXN31Aug 10, 2015
B3GLCT2Aug 10, 2015
BCKDHA2Jan 6, 2016
BCL11B1Aug 10, 2015
BCL31Jan 6, 2016
BCR2Jan 6, 2016
BDP12Jan 6, 2016
BHLHE221Aug 10, 2015
BHLHE22-AS11Aug 10, 2015
BLM1Aug 10, 2015
BLNK1Jan 6, 2016
BLTP11Aug 10, 2015
BMP2K1Aug 10, 2015
BMPR1B1Aug 10, 2015
BMPR21Jan 6, 2016
BNC22Jan 6, 2016
BPI1Aug 10, 2015
BRAF2Jan 6, 2016
BRCA112Jan 6, 2016
BRCA228Jan 6, 2016
BRD21Aug 10, 2015
BRF11Aug 10, 2015
BRWD31Jan 6, 2016
C10orf1051Jan 6, 2016
C11orf651Aug 10, 2015
C12orf571Aug 10, 2015
C12orf601Jan 6, 2016
C17orf671Jan 6, 2016
C2CD31Jan 6, 2016
C2orf421Jan 6, 2016
C31Aug 10, 2015
C3orf801Jan 6, 2016
CA41Jan 6, 2016
CACNA1A1Jan 6, 2016
CACNA1D1Jan 6, 2016
CACNA1F1Jan 6, 2016
CACNA1I1Jan 6, 2016
CACNA1S2Jan 6, 2016
CACNA2D11Aug 10, 2015
CACNA2D22Jan 6, 2016
CACNB11Jan 6, 2016
CACNB21Aug 10, 2015
CACNG21Jan 6, 2016
CAMK2A1Aug 10, 2015
CAMTA11Jan 6, 2016
CARD81Jan 6, 2016
CASK1Oct 24, 2016
CAST1Aug 10, 2015
CAVIN11Aug 10, 2015
CBFA2T32Feb 2, 2021
CBL3Oct 24, 2016
CCDC1981Jan 6, 2016
CCDC221Aug 10, 2015
CCDC331Aug 10, 2015
CCDC402Aug 10, 2015
CCDST1May 4, 2018
CCNF1Jan 6, 2016
CD3D1Jan 6, 2016
CD79A1Jan 6, 2016
CDH151Aug 10, 2015
CDH234Jan 6, 2016
CDHR11Jan 6, 2016
CDK5RAP22Aug 10, 2015
CDKL510Mar 20, 2015
CDX11Jan 6, 2016
CEACAM11Jan 6, 2016
CEACAM161Aug 10, 2015
CEACAM16-AS11Aug 10, 2015
CEL2Aug 10, 2015
CENPE1Aug 10, 2015
CEP1281Aug 10, 2015
CEP2902Jan 6, 2016
CFI2Jan 6, 2016
CHD21Jan 6, 2016
CHD61Aug 10, 2015
CHD747Oct 24, 2016
CHD81Jan 6, 2016
CHEK21May 4, 2018
CHKB1Aug 10, 2015
CHKB-CPT1B1Aug 10, 2015
CHRNA71Jan 6, 2016
CHRNB11Jan 6, 2016
CIC1Jan 6, 2016
CLCN12Jan 6, 2016
CLCN22Aug 10, 2015
CLPTM1L1Aug 10, 2015
CLTCL11Jan 6, 2016
CNGA21Jan 6, 2016
CNKSR12Jan 6, 2016
CNTN62Jan 6, 2016
COG14Jan 6, 2016
COG61Aug 10, 2015
COL11A11Aug 10, 2015
COL18A11Aug 10, 2015
COL1A11Aug 10, 2015
COL2A12Jan 6, 2016
COL3A13Jan 6, 2016
COL4A42Jan 6, 2016
COL5A31Jan 6, 2016
COL6A11Aug 10, 2015
COL6A21Jan 6, 2016
COL6A32Aug 10, 2015
COL9A31Aug 10, 2015
COQ21Aug 10, 2015
COQ8A1Aug 10, 2015
COX101Aug 10, 2015
COX151Jan 6, 2016
CPT1A1Jan 6, 2016
CR21Jan 6, 2016
CREBBP4Jan 6, 2016
CSTB1Aug 10, 2015
CTCF2Feb 2, 2021
CTNNB11Aug 10, 2015
CTTNBP21Jan 6, 2016
CXCR21Jan 6, 2016
CYB5A1Jan 6, 2016
CYB5R31Jan 6, 2016
CYBA1Jan 6, 2016
CYLD29Oct 14, 2016
CYLD-AS215Oct 14, 2016
CYP2R11Aug 10, 2015
CYSLTR21Jan 6, 2016
D2HGDH1Aug 10, 2015
DAAM12Jan 6, 2016
DACH12Jan 6, 2016
DCAF171Jan 6, 2016
DCHS11Jan 6, 2016
DDX101Aug 10, 2015
DDX114Jan 6, 2016
DENND1C1Jan 6, 2016
DENND2B1Aug 10, 2015
DHFR1Aug 10, 2015
DHTKD11Jan 6, 2016
DISP11Aug 10, 2015
DLC11Jan 6, 2016
DLG21Jan 6, 2016
DLG51Aug 10, 2015
DM1-AS1Aug 10, 2015
DMD1Jan 6, 2016
DNAAF32Aug 10, 2015
DNAAF3-AS12Aug 10, 2015
DNAH111Aug 10, 2015
DNAJC5B1Jan 6, 2016
DNASE11Jan 6, 2016
DNMT11Aug 10, 2015
DOCK71Aug 10, 2015
DOCK81Aug 10, 2015
DOK11Aug 10, 2015
DOK72Jan 6, 2016
DOP1A1Jan 6, 2016
DPP64Jan 6, 2016
DSC26Jan 6, 2016
DSG26Jan 6, 2016
DSG2-AS13Jan 6, 2016
DSP20Jan 6, 2016
DSP-AS11Aug 10, 2015
DSPP1Jan 6, 2016
EBP1Aug 10, 2015
ECI11Aug 10, 2015
EDNRA1Jun 17, 2019
EEF1A21Jan 6, 2016
EFHC11Aug 10, 2015
EFNB15Oct 24, 2016
EGR21Aug 10, 2015
EHMT12Jan 6, 2016
ELP21Jan 6, 2016
EMG11Aug 10, 2015
ENAH1Aug 10, 2015
ENDOG1Aug 10, 2015
ENTPD71Jan 6, 2016
EOMES1Aug 10, 2015
EP3001Aug 10, 2015
EPG52Jan 6, 2016
EPOR1Feb 2, 2021
EPS81Jan 6, 2016
ERCC31Aug 10, 2015
ERCC41Aug 10, 2015
ERCC61Jan 6, 2016
ERCC81Jan 6, 2016
ERMARD1Jan 6, 2016
ESRRB1Jan 6, 2016
ETS11Aug 10, 2015
EXOC6B1Aug 10, 2015
EXOSC81Aug 10, 2015
EYS1Jan 6, 2016
FAAH21Jan 6, 2016
FANCA1Aug 10, 2015
FANCC3Jan 6, 2016
FANCD24Jan 6, 2016
FANCF2Jan 6, 2016
FANCG1Jan 6, 2016
FANCI1Aug 10, 2015
FANCM1Aug 10, 2015
FAT41Jan 6, 2016
FBN15Jan 6, 2016
FBN21Aug 10, 2015
FBXO171Aug 10, 2015
FGF82Jan 6, 2016
FGFR11Dec 14, 2016
FGFR240Oct 24, 2016
FGFR37Oct 24, 2016
FH54Jan 18, 2017
FIGNL11Aug 10, 2015
FIZ11Jan 6, 2016
FKBP101Aug 10, 2015
FLCN60Aug 10, 2016
FLG1May 4, 2018
FLNA2Jan 6, 2016
FLNB5Jan 6, 2016
FMN26Jan 6, 2016
FOLH11Aug 10, 2015
FOXG14Dec 14, 2016
FOXH11Aug 10, 2015
FOXI11Jan 6, 2016
FOXL11Aug 10, 2015
FOXL262Dec 14, 2016
FOXP11Aug 10, 2015
FREM12Aug 10, 2015
FUCA12Aug 10, 2015
GAA1Jan 6, 2016
GABRB31Aug 10, 2015
GABRD1Aug 10, 2015
GABRG24Jan 6, 2016
GAL3ST21Aug 10, 2015
GAS2L21Jan 6, 2016
GATA110Feb 2, 2021
GATAD12Jan 6, 2016
GBA21Aug 10, 2015
GDI11Aug 10, 2015
GH-LCR1Aug 10, 2015
GIPC31Jan 6, 2016
GJB11May 17, 2017
GJB249May 17, 2017
GJB41Jan 6, 2016
GLA4Jan 6, 2016
GLYCTK1Jan 6, 2016
GNAS2Jan 6, 2016
GNAS-AS11Jan 6, 2016
GNS1Aug 10, 2015
GPC31Aug 10, 2015
GPD1L1Aug 10, 2015
GPR1611Jan 6, 2016
GPR391Aug 10, 2015
GRB141Jan 6, 2016
GRHL31Aug 10, 2015
GRIA11Aug 10, 2015
GRIA32Aug 10, 2015
GRIK21Jan 6, 2016
GRIK31Jan 6, 2016
GRIN2A1Jan 6, 2016
GRIN2B1Aug 10, 2015
GRM11Aug 10, 2015
GRM51Jan 6, 2016
GRM61Jan 6, 2016
GRXCR21Jan 6, 2016
GSDME1Aug 10, 2015
GSE11Jan 6, 2016
GTF2IRD21Jan 6, 2016
GTF3C52Feb 3, 2023
GUCY2C1Jan 6, 2016
HACD11Aug 10, 2015
HAND11Jan 6, 2016
HCN21Jan 6, 2016
HERC27Jan 6, 2016
HESX11Aug 10, 2015
HFE1Dec 17, 2021
HFE-AS11Dec 17, 2021
HIF1A1Aug 10, 2015
HIF1A-AS31Aug 10, 2015
HIP11Aug 10, 2015
HLA-DRB52Jan 6, 2016
HNRNPU1Aug 10, 2015
HOXB-AS32Aug 10, 2015
HOXB62Aug 10, 2015
HOXD131Aug 10, 2015
HS6ST12Jan 6, 2016
HSALR11Jan 6, 2016
HSD17B41Jan 6, 2016
HSPG21Aug 10, 2015
HUWE13Jan 6, 2016
IARS21Jan 6, 2016
ICE21Jan 6, 2016
IDUA1Aug 10, 2015
IFIH11Aug 10, 2015
IFRD11Aug 10, 2015
IFT1221Jan 6, 2016
IFT1721Jan 6, 2016
IFT801Jan 6, 2016
IGF21Aug 10, 2015
IGF2R1Aug 10, 2015
IGHMBP21Aug 10, 2015
IL10RA1Jan 6, 2016
IL21R1Jan 6, 2016
IL4I11Jan 6, 2016
INO801Jan 6, 2016
INS-IGF21Aug 10, 2015
INSR1Aug 10, 2015
IPO9-AS11Jan 6, 2016
IQGAP21Jan 6, 2016
ITCH1Aug 10, 2015
ITGA41Aug 10, 2015
ITGA71Jan 6, 2016
ITGB62Aug 10, 2015
ITPK11Aug 10, 2015
JAK11Feb 2, 2021
JAK31Jan 6, 2016
JPH21Aug 10, 2015
KANK12Jan 6, 2016
KARS11Aug 10, 2015
KAT6A1Jan 14, 2015
KCNAB21Aug 10, 2015
KCNC11Aug 10, 2015
KCNH27Jan 6, 2016
KCNJ11Aug 10, 2015
KCNJ101Jan 6, 2016
KCNK91Aug 10, 2015
KCNMA12Jan 6, 2016
KCNN41Jan 6, 2016
KCNQ12Aug 10, 2015
KCNQ1-AS11Aug 10, 2015
KCNQ31Aug 10, 2015
KDM5A1Feb 2, 2021
KDM5C1Jan 6, 2016
KDM6B5Jan 6, 2016
KIF1A1Aug 10, 2015
KIF1B2Aug 10, 2015
KIF73Jan 6, 2016
KLF81Jan 6, 2016
KLHL411Aug 10, 2015
KMT2A5Feb 2, 2021
KMT2C4Aug 10, 2015
KMT2D3Jan 6, 2016
KPTN1Jan 6, 2016
KRTAP1-11Aug 10, 2015
KYAT1-SPOUT11Aug 10, 2015
LAMA22Aug 10, 2015
LAMB11Jan 6, 2016
LAMB21Jan 6, 2016
LAMB31Aug 10, 2015
LAMC21Aug 10, 2015
LARP71Aug 10, 2015
LARS22Jan 6, 2016
LBR2Aug 10, 2015
LDB31Jan 6, 2016
LDLR7Jan 6, 2016
LHX41Jan 6, 2016
LIN7A1Aug 10, 2015
LINS11Aug 10, 2015
LIPE-AS11Jan 6, 2016
LMOD31Aug 10, 2015
LOC1001316261Aug 10, 2015
LOC1019297101Aug 10, 2015
LOC1053693911Jan 6, 2016
LOC1053715663Aug 10, 2015
LOC1059435861Aug 10, 2015
LOC1060292404Jan 6, 2016
LOC1060293121Jan 6, 2016
LOC1067808032Aug 10, 2015
LOC1070753171Aug 10, 2015
LOC1073033384Jan 6, 2016
LOC107303340111Jan 10, 2019
LOC1078328511Aug 10, 2015
LOC1079639551Aug 10, 2015
LOC1079822341Jan 6, 2016
LOC1086639851Jan 6, 2016
LOC1086639931Aug 10, 2015
LOC1096106311Mar 23, 2015
LOC1125336711Aug 10, 2015
LOC1126947561Jan 6, 2016
LOC1129975401Aug 10, 2015
LOC1221522961Aug 10, 2015
LOC1246294231Oct 24, 2016
LOC1268064271Aug 10, 2015
LOC1268065291Jan 6, 2016
LOC1268073431Jan 6, 2016
LOC1268603921Jan 6, 2016
LOC1268604032Oct 24, 2016
LOC1268605821Aug 10, 2015
LOC1268605851Aug 10, 2015
LOC1268606461Aug 10, 2015
LOC1268613391Jan 6, 2016
LOC1268615091Jan 6, 2016
LOC1268615351Jan 6, 2016
LOC1268618971Aug 10, 2015
LOC1268625712Aug 10, 2015
LOC1268626342Aug 10, 2015
LOC1268629021Aug 10, 2015
LOC1268631601Aug 10, 2015
LOC1268632571Jan 6, 2016
LOC1299291401Aug 10, 2015
LOC1299337701Jan 6, 2016
LOC1299340401Jan 6, 2016
LOC1299360311Aug 10, 2015
LOC1299363901Aug 10, 2015
LOC1299376861Aug 10, 2015
LOC1299921181Jan 6, 2016
LOC1300034541Aug 10, 2015
LOC1300087921Aug 10, 2015
LOC1300092661Aug 10, 2015
LOC1300567091Aug 10, 2015
LOC1300598921Aug 10, 2015
LOC1300610871Aug 10, 2015
LOC1300610891Aug 10, 2015
LOC1300678621Jan 6, 2016
LOC1300688541May 13, 2015
LOC1320905211Jan 6, 2016
LOC6132661Aug 10, 2015
LOXHD11Jan 6, 2016
LRBA2Aug 10, 2015
LRP23Jan 6, 2016
LRP51Aug 10, 2015
LRPPRC2Aug 10, 2015
LRSAM11Jan 6, 2016
LYPD11Aug 10, 2015
LZTR11Aug 10, 2015
MACROD21Aug 10, 2015
MAG1Jan 6, 2016
MAGEL21Jan 6, 2016
MAN1B11Aug 10, 2015
MAN2B11Aug 10, 2015
MAP21Jan 6, 2016
MAP2K31Aug 10, 2015
MAP3K11Jan 6, 2016
MAP3K151Jan 6, 2016
MAP61Jan 6, 2016
MASP21Jan 6, 2016
MBD41Aug 10, 2015
MBNL11Aug 10, 2015
MBNL1-AS11Aug 10, 2015
MCIDAS1Jan 6, 2016
MDGA11Aug 10, 2015
MECP219May 13, 2015
MED121Jan 6, 2016
MED132Jan 6, 2016
MED13L3Jan 6, 2016
MED232Jan 6, 2016
MEGF102Jan 6, 2016
MEGF81Aug 10, 2015
MEN11Aug 10, 2015
MERTK1Jan 6, 2016
MESP21Jan 6, 2016
METTL232Jan 6, 2016
MFF1Aug 10, 2015
MFSD111Feb 2, 2021
MGAT21Aug 10, 2015
MHRT2Aug 10, 2015
MIA21Aug 10, 2015
MIB21Aug 10, 2015
MICA1Aug 10, 2015
MILR11Aug 10, 2015
MIR3936HG1Jan 6, 2016
MKKS1Jan 6, 2016
MKS11Aug 10, 2015
MLH18Jan 6, 2016
MLLT61Feb 2, 2021
MLXIPL1Aug 10, 2015
MLYCD1Jan 6, 2016
MMADHC1Aug 10, 2015
MOCS21Aug 10, 2015
MOGS2Jan 6, 2016
MPZL21Nov 13, 2023
MR11Jan 6, 2016
MRRF1Aug 10, 2015
MSH26Jan 6, 2016
MSH31Aug 10, 2015
MSH66Jan 6, 2016
MSRB31Aug 10, 2015
MT-CYB1Jan 6, 2016
MT-ND12Jan 6, 2016
MTFMT1Aug 10, 2015
MTHFD11Aug 10, 2015
MTMR141Jan 6, 2016
MTOR1Jan 6, 2016
MTRFR1Aug 10, 2015
MUC21Aug 10, 2015
MUC43Jan 6, 2016
MUTYH5Jan 6, 2016
MYBPC33Jan 6, 2016
MYH1110Sep 27, 2019
MYH141Aug 10, 2015
MYH31Jan 6, 2016
MYH61Aug 10, 2015
MYH75Jan 6, 2016
MYH81Jan 6, 2016
MYHAS1Jan 6, 2016
MYL21Aug 10, 2015
MYL31Jan 6, 2016
MYLK5Jan 6, 2016
MYLK-AS12Jan 6, 2016
MYO15A3Aug 10, 2015
MYO1A1Jan 6, 2016
MYO1C2Aug 10, 2015
MYO5B1Aug 10, 2015
MYO64Jan 6, 2016
MYO7A2Jan 6, 2016
MYO9B2Jan 6, 2016
NAA101Jan 6, 2016
NAGA2Aug 10, 2015
NAT11Jan 6, 2016
NAV11Jan 6, 2016
NBAS1Aug 10, 2015
NBEA1Jan 6, 2016
NBPF13Aug 10, 2015
NCAPG22Aug 10, 2015
NDE17Sep 27, 2019
NDUFA61Aug 10, 2015
NDUFA91Aug 10, 2015
NDUFB31Jan 6, 2016
NDUFS61Jan 6, 2016
NEB10Jan 6, 2016
NEBL1Aug 10, 2015
NECTIN11Aug 10, 2015
NEDD41Aug 10, 2015
NES1Aug 10, 2015
NF12Jan 6, 2016
NF21Aug 10, 2015
NGLY11Aug 10, 2015
NID11Aug 10, 2015
NIPA11Aug 10, 2015
NKX2-52Aug 10, 2015
NLGN11Aug 10, 2015
NLRP121Jan 6, 2016
NLRP31Aug 10, 2015
NOD23Jan 6, 2016
NOTCH24Jan 6, 2016
NOTCH42Aug 10, 2015
NPC11Jan 6, 2016
NPHP31Aug 10, 2015
NPHP3-ACAD111Aug 10, 2015
NPL1Jan 6, 2016
NR3C21Jan 6, 2016
NRAS1Feb 2, 2021
NRG11Aug 10, 2015
NRP21Aug 10, 2015
NRXN11Aug 10, 2015
NSD13Jan 6, 2016
NUP621Jan 6, 2016
NUP981Feb 2, 2021
OBSCN2Jan 6, 2016
OPRM11Jan 6, 2016
OTC1Jan 6, 2016
OTOA3Jan 6, 2016
OTOF2Jan 6, 2016
OTOG3Jan 6, 2016
OTOGL2Jan 6, 2016
OVGP11Jan 6, 2016
PALB21Jan 6, 2016
PALM2AKAP21Jan 6, 2016
PAPSS21Aug 10, 2015
PAQR31Aug 10, 2015
PASK1Jan 6, 2016
PAX31Jan 6, 2016
PAX61Aug 10, 2015
PC1Jan 6, 2016
PCDH153Jan 6, 2016
PCLO2Jan 6, 2016
PCNT2Aug 10, 2015
PCSK11Aug 10, 2015
PCSK52Aug 10, 2015
PCSK93Jan 6, 2016
PDGFRA1Aug 10, 2015
PDGFRB2Jan 6, 2016
PDZD21Jan 6, 2016
PDZD71Aug 10, 2015
PER31Jan 6, 2016
PEX12Jan 6, 2016
PEX121Jan 6, 2016
PGM11Jan 6, 2016
PGM31Jan 6, 2016
PHC12Aug 10, 2015
PHF31Jan 6, 2016
PHKB1Jan 6, 2016
PI4KA1Aug 10, 2015
PIEZO12Jan 6, 2016
PIEZO21Aug 10, 2015
PIGA1Aug 10, 2015
PIGN2Aug 10, 2015
PIGO1Aug 10, 2015
PIGT3Jan 6, 2016
PIK3CD1Jan 6, 2016
PKHD11Jan 6, 2016
PKM1Jan 6, 2016
PKP26Jan 6, 2016
PLEC2Aug 10, 2015
PLK41Aug 10, 2015
PMM21Aug 10, 2015
PMS214Jan 6, 2016
PNPLA21Jan 6, 2016
PNPT13Jan 6, 2016
POGZ1Jan 6, 2016
POLD11Aug 10, 2015
POLE3Jan 6, 2016
POLG6Aug 10, 2015
POLG21Aug 10, 2015
POLGARF6Aug 10, 2015
POMT11Aug 10, 2015
PPIB1Aug 10, 2015
PPP2R2B2Jan 6, 2016
PPT21Aug 10, 2015
PPT2-EGFL81Aug 10, 2015
PRDM161Aug 10, 2015
PREPL1Jan 6, 2016
PRICKLE11Jan 6, 2016
PRKCD1Jan 6, 2016
PRNP1Aug 10, 2015
PROKR22Jan 6, 2016
PROM11Jan 6, 2016
PRSS11Jan 6, 2016
PRSS121Aug 10, 2015
PRX1Aug 10, 2015
PTCD11Aug 10, 2015
PTCH21Jan 6, 2016
PTEN1Aug 10, 2015
PTGER41Aug 10, 2015
PTPN111Feb 2, 2021
PTPN221Aug 10, 2015
PTPN232Jan 6, 2016
PTPRQ1Aug 10, 2015
PTPRT1Aug 10, 2015
PURA1Jan 6, 2016
PYGM1Jan 6, 2016
RAB3GAP21Jan 6, 2016
RAD211Feb 2, 2021
RAD501Aug 10, 2015
RAD51C1Jan 6, 2016
RAD51D1Jan 6, 2016
RAD51L3-RFFL1Jan 6, 2016
RAI13Jan 6, 2016
RASA23Jan 6, 2016
RASAL11Aug 10, 2015
RB12Jan 6, 2016
RBFOX11Aug 10, 2015
RBFOX31Jan 6, 2016
RECQL44Aug 10, 2015
RELN2Jan 6, 2016
RET5Jan 6, 2016
REV3L1Jan 6, 2016
RFT11Aug 10, 2015
RFXANK1Jan 6, 2016
RIF12Jan 6, 2016
RIN21Aug 10, 2015
RIPK31Aug 10, 2015
RNF1681Jan 6, 2016
ROR21Jan 6, 2016
RORC1Jan 6, 2016
RP11Jan 6, 2016
RPL36A-HNRNPH24Jan 6, 2016
RRM2B1Jan 6, 2016
RS11Mar 20, 2015
RUBCN1Aug 10, 2015
RXYLT11Aug 10, 2015
RYK1Aug 10, 2015
RYR115Jan 6, 2016
RYR29Jan 6, 2016
SACS1Aug 10, 2015
SALL12Aug 10, 2015
SALL42Aug 10, 2015
SBDS2Dec 17, 2021
SBF11Jan 6, 2016
SCN1A1Jan 6, 2016
SCN1A-AS12Jan 6, 2016
SCN3A1Jan 6, 2016
SCN4A2Jan 6, 2016
SCN5A11Jan 6, 2016
SCN9A2Jan 6, 2016
SCO21Jan 6, 2016
SDHB2Jan 6, 2016
SDHC1Aug 10, 2015
SDHD3Jan 6, 2016
SEMA3E2Jan 6, 2016
SERPINF11Aug 10, 2015
SETD22Feb 2, 2021
SETD52Jan 6, 2016
SFTPD1Aug 10, 2015
SH3TC21Jan 6, 2016
SHANK32Jan 6, 2016
SHOC21Aug 10, 2015
SIL11Aug 10, 2015
SIRT11Aug 10, 2015
SIX51Aug 10, 2015
SLC12A61Aug 10, 2015
SLC22A41Jan 6, 2016
SLC26A41Jan 6, 2016
SLC26A5-AS11Jan 6, 2016
SLC2A101Aug 10, 2015
SLC34A11Jan 6, 2016
SLC35C11Jan 6, 2016
SLC46A11Jan 6, 2016
SLC6A82Jan 6, 2016
SLC9A91Jan 6, 2016
SLCO1B31Jan 6, 2016
SLCO1B3-SLCO1B71Jan 6, 2016
SLX42Jan 6, 2016
SMAD31Jan 6, 2016
SMARCA22Aug 10, 2015
SMARCA41Jan 6, 2016
SMCHD11Jan 6, 2016
SMPD11Jan 6, 2016
SMPD41Jan 6, 2016
SNHG147May 13, 2015
SNIP11Jan 6, 2016
SNX221Aug 10, 2015
SOX71Jan 6, 2016
SPART1Jan 6, 2016
SPDL11Jan 6, 2016
SPEN1Jan 6, 2016
SPOCK11Aug 10, 2015
SPOUT11Aug 10, 2015
SPTBN42Jan 6, 2016
SPTLC11Aug 10, 2015
SRCAP2Aug 10, 2015
SRSF21Feb 2, 2021
STAT11Jan 6, 2016
STAT5B1Jan 6, 2016
STK112Jan 6, 2016
STPG11Aug 10, 2015
SUCLG11Jan 6, 2016
SUZ121Feb 2, 2021
SYN11Jan 6, 2016
SYNE12Aug 10, 2015
SYNE23Jan 6, 2016
SYNE41Aug 10, 2015
SYNGAP11Aug 10, 2015
SYNGAP1-AS11Aug 10, 2015
SYP1Jan 6, 2016
SZT21Aug 10, 2015
TBC1D241Jan 6, 2016
TBC1D71Jan 6, 2016
TBC1D7-LOC1001303571Jan 6, 2016
TBK11Jan 6, 2016
TBL1XR11Jan 6, 2016
TBXAS11Jan 6, 2016
TBXT1Aug 10, 2015
TCF31Jan 6, 2016
TCF41Aug 10, 2015
TCTN31Aug 10, 2015
TDP21Jan 6, 2016
TENM42Jan 6, 2016
TGFB12Jan 6, 2016
TGFBR11Aug 10, 2015
TGFBR24Jan 6, 2016
TGIF11Jan 6, 2016
TLR53Jan 6, 2016
TM4SF191Jan 6, 2016
TM4SF19-DYNLT2B1Jan 6, 2016
TMC31Jan 6, 2016
TMC3-AS11Jan 6, 2016
TMEM132E1Jan 6, 2016
TMEM701Aug 10, 2015
TNC1Jan 6, 2016
TNFAIP31Jan 6, 2016
TNFRSF81Jan 6, 2016
TNFRSF91Jan 6, 2016
TNNI31Jan 6, 2016
TNNT31Jan 6, 2016
TNXB2Aug 10, 2015
TOP2A1Jan 6, 2016
TP535Aug 29, 2022
TPO1Jan 6, 2016
TPRN1Aug 10, 2015
TRAF31Jan 6, 2016
TRAPPC92Jan 6, 2016
TRB1Jan 6, 2016
TRIM59-IFT801Jan 6, 2016
TRIOBP5May 4, 2018
TRPM61Aug 10, 2015
TRPS11Jan 6, 2016
TSC15Jan 6, 2016
TSC210Jan 6, 2016
TSEN541Aug 10, 2015
TSHR2Aug 10, 2015
TSPEAR1Jan 6, 2016
TSPYL21Jan 6, 2016
TTBK11Aug 10, 2015
TTC21B1Jan 6, 2016
TTN12Jan 6, 2016
TTN-AS16Jan 6, 2016
TUBB2A2Aug 10, 2015
TUBGCP63Aug 10, 2015
TYK22Jan 6, 2016
TYMP1Jan 6, 2016
UBE3A7May 13, 2015
UBE3B1Jan 6, 2016
UBE4A1Aug 10, 2015
UCHL11Jan 6, 2016
UGT1A2Aug 10, 2015
UGT1A11Aug 10, 2015
UGT1A102Aug 10, 2015
UGT1A31Aug 10, 2015
UGT1A41Aug 10, 2015
UGT1A52Aug 10, 2015
UGT1A62Aug 10, 2015
UGT1A72Aug 10, 2015
UGT1A82Aug 10, 2015
UGT1A92Aug 10, 2015
UROC11Aug 10, 2015
USF31Aug 10, 2015
USH1C1Aug 10, 2015
USH2A5Jan 6, 2016
USP27X1Jan 6, 2016
VARS21Jan 6, 2016
VCX3A4Jan 6, 2016
VHL199Jan 10, 2019
VIPAS391Aug 10, 2015
VPS13B4Jan 6, 2016
VPS33B1Jan 6, 2016
VPS451Jan 6, 2016
WAS1Jan 6, 2016
WASHC52Aug 10, 2015
WDR111Jan 6, 2016
WDR191Jan 6, 2016
WDR621Aug 10, 2015
WFS16Jan 6, 2016
WHRN2Jan 6, 2016
WIPF12Jan 6, 2016
WNK11Aug 10, 2015
WNT11Aug 10, 2015
WNT2B1Jan 6, 2016
WT11Jan 6, 2016
WWOX1Jan 6, 2016
XIRP11Jan 6, 2016
ZBTB201Aug 10, 2015
ZBTB242Jan 6, 2016
ZC4H21Jan 6, 2016
ZCCHC81Jan 6, 2016
ZDHHC151Jan 6, 2016
ZEB210Mar 23, 2015
ZIC52Jan 6, 2016
ZMYM31Jan 6, 2016
ZNF2761Aug 10, 2015
ZNF2921Jan 6, 2016
ZNF4071Aug 10, 2015
ZNF4541Jan 6, 2016
ZNF6741Jan 6, 2016
ZNF7781Jan 6, 2016
ZNF804A1Jan 6, 2016
ZSWIM63Jan 6, 2016

Condition

NameSubmissionsLast Updated
Acrocephalosyndactyly type I3Oct 24, 2016
Acute megakaryoblastic leukemia in down syndrome14Feb 2, 2021
Acute megakaryoblastic leukemia without down syndrome7Feb 2, 2021
Angiosarcoma1Oct 5, 2022
Aortic aneurysm, familial thoracic 48Sep 27, 2019
Arrhythmogenic right ventricular cardiomyopathy36Jan 6, 2016
Autosomal dominant nonsyndromic hearing loss 3A1May 17, 2017
Autosomal recessive nonsyndromic hearing loss 1A47May 17, 2017
Autosomal recessive nonsyndromic hearing loss 281May 4, 2018
Beare-Stevenson cutis gyrata syndrome1Oct 24, 2016
Birt-Hogg-Dube syndrome60Aug 10, 2016
Blepharophimosis, ptosis, and epicanthus inversus syndrome62Dec 14, 2016
Breast and colorectal cancer, susceptibility to1May 4, 2018
Brooke-Spiegler syndrome6Oct 14, 2016
Brugada syndrome6Jan 6, 2016
Brugada syndrome 14Aug 10, 2015
CBL-related disorder3Oct 24, 2016
CHARGE syndrome41Oct 24, 2016
Cardiomyopathy2Jan 6, 2016
Catecholaminergic polymorphic ventricular tachycardia5Jan 6, 2016
Catecholaminergic polymorphic ventricular tachycardia 14Aug 10, 2015
Chuvash polycythemia1Mar 2, 2016
Craniofrontonasal syndrome5Oct 24, 2016
Craniosynostosis, nonspecific6Dec 14, 2016
Crouzon syndrome16Oct 24, 2016
Crouzon syndrome-acanthosis nigricans syndrome2Oct 24, 2016
Dilated cardiomyopathy 1A3Jan 6, 2016
Ehlers-Danlos syndrome, type 43Jan 6, 2016
Esophageal and colonic dysmotility1Sep 27, 2019
Fabry disease4Jan 6, 2016
Familial adenomatous polyposis 24Jan 6, 2016
Familial cylindromatosis22Oct 14, 2016
Familial medullary thyroid carcinoma1Jan 6, 2016
Familial multiple polyposis syndrome16Jan 6, 2016
Familial multiple trichoepitheliomata1Oct 14, 2016
Familial thoracic aortic aneurysm and aortic dissection4Jan 6, 2016
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1Oct 24, 2016
Frontonasal dysplasia with alopecia and genital anomaly1Oct 24, 2016
Hearing loss, autosomal recessive 1111Nov 13, 2023
Hemochromatosis type 11Dec 17, 2021
Hereditary breast ovarian cancer syndrome39Jan 6, 2016
Hereditary leiomyomatosis and renal cell cancer54Jan 18, 2017
Hypercholesterolemia, autosomal dominant, 33Jan 6, 2016
Hypercholesterolemia, familial, 130Jan 6, 2016
Hypertrophic cardiomyopathy 14Jan 6, 2016
Hypertrophic cardiomyopathy 101Aug 10, 2015
Ichthyosis vulgaris1May 4, 2018
Jackson-Weiss syndrome2Oct 24, 2016
Li-Fraumeni syndrome2Aug 29, 2022
Li-Fraumeni syndrome 13Jan 6, 2016
Loeys-Dietz syndrome6Jan 6, 2016
Long QT syndrome 12Aug 10, 2015
Long QT syndrome 27Jan 6, 2016
Long QT syndrome 310Jan 6, 2016
Lynch syndrome32Jan 6, 2016
Malignant hyperthermia of anesthesia2Jan 6, 2016
Malignant hypothermia14Jan 6, 2016
Marfan syndrome5Jan 6, 2016
Muenke syndrome1Oct 24, 2016
Multiple endocrine neoplasia5Aug 10, 2015
Multisystem developmental disorder2Feb 3, 2023
Neuroblastoma, susceptibility to, 314Nov 10, 2015
Neurofibromatosis, type 21Aug 10, 2015
PTEN hamartoma tumor syndrome1Aug 10, 2015
Paragangliomas 13Jan 6, 2016
Paragangliomas 31Aug 10, 2015
Paragangliomas 42Jan 6, 2016
Peutz-Jeghers syndrome2Jan 6, 2016
Pfeiffer syndrome16Oct 24, 2016
Pseudohypoaldosteronism1Jan 6, 2016
Retinoblastoma2Jan 6, 2016
Rett syndrome, congenital variant4Dec 14, 2016
Shwachman-Diamond syndrome 11Dec 17, 2021
Syndromic X-linked intellectual disability Najm type1Oct 24, 2016
Syndromic intellectual disability1Jan 14, 2015
Thanatophoric dysplasia type 11Oct 24, 2016
Transient myeloproliferative syndrome4Feb 2, 2021
Tuberous sclerosis 15Jan 6, 2016
Tuberous sclerosis 210Jan 6, 2016
Von Hippel-Lindau syndrome198Jan 10, 2019
Wilms tumor 11Jan 6, 2016
not provided89Jun 17, 2019
not specified945Jan 6, 2016

Testing in GTR

Disease nameNumber of tests
46,XX sex reversal 11 test
46,XY sex reversal 11 test
Abetalipoproteinaemia1 test
Acrodysostosis 2 with or without hormone resistance1 test
Acromesomelic dysplasia 32 tests
Action myoclonus-renal failure syndrome1 test
Acute intermittent porphyria1 test
Acute lymphoid leukemia2 tests
Acute myeloid leukemia2 tests
Alagille syndrome due to a JAG1 point mutation4 tests
Alagille syndrome due to a NOTCH2 point mutation4 tests
Alpha-1-antitrypsin deficiency2 tests
Alport syndrome1 test
Alveolar capillary dysplasia with pulmonary venous misalignment3 tests
Anauxetic dysplasia 11 test
Anemia1 test
Aneurysm-osteoarthritis syndrome1 test
Angelman syndrome2 tests
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis2 tests
Aortic aneurysm, familial thoracic 101 test
Aortic aneurysm, familial thoracic 11, susceptibility to1 test
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Aortic aneurysm, familial thoracic 81 test
Aortic aneurysm, familial thoracic 91 test
Aortic valve disease 21 test
Aortic valve disorder1 test
Arterial tortuosity syndrome1 test
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Arthrogryposis, renal dysfunction, and cholestasis 21 test
Ataxia-telangiectasia syndrome3 tests
Atrial fibrillation, familial, 72 tests
Auriculocondylar syndrome 21 test
Autoimmune interstitial lung disease-arthritis syndrome2 tests
Autosomal dominant Alport syndrome1 test
Autosomal dominant epilepsy with auditory features1 test
Autosomal dominant hypocalcemia 11 test
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1 test
Autosomal dominant nocturnal frontal lobe epilepsy 11 test
Autosomal dominant nocturnal frontal lobe epilepsy 31 test
Autosomal dominant nocturnal frontal lobe epilepsy 41 test
Autosomal dominant nocturnal frontal lobe epilepsy 51 test
Autosomal recessive Alport syndrome1 test
Autosomal recessive nonsyndromic hearing loss 163 tests
Autosomal recessive nonsyndromic hearing loss 1A1 test
Autosomal recessive pseudohypoaldosteronism type 11 test
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1 test
Autosomal recessive spinocerebellar ataxia 71 test
B-cell acute lymphoblastic leukemia1 test
BAP1-related tumor predisposition syndrome1 test
Baller-Gerold syndrome3 tests
Beckwith-Wiedemann syndrome1 test
Benign recurrent intrahepatic cholestasis type 11 test
Benign recurrent intrahepatic cholestasis type 21 test
Bile acid malabsorption, primary, 11 test
Bile acid malabsorption, primary, 21 test
Birt-Hogg-Dube syndrome3 tests
Blepharophimosis, ptosis, and epicanthus inversus syndrome3 tests
Bloom syndrome2 tests
Bohring-Opitz syndrome2 tests
Bone fragility with contractures, arterial rupture, and deafness1 test
Brain glioma1 test
Brain-lung-thyroid syndrome2 tests
Branchiootic syndrome 11 test
Branchiootic syndrome 32 tests
Branchiootorenal syndrome 22 tests
Breast-ovarian cancer, familial, susceptibility to, 13 tests
Breast-ovarian cancer, familial, susceptibility to, 23 tests
Breast-ovarian cancer, familial, susceptibility to, 31 test
Breast-ovarian cancer, familial, susceptibility to, 42 tests
Bronchiectasis with or without elevated sweat chloride 11 test
Bronchiectasis with or without elevated sweat chloride 21 test
Bronchiectasis with or without elevated sweat chloride 31 test
Brooke-Spiegler syndrome2 tests
C syndrome2 tests
CBL-related disorder2 tests
CHARGE syndrome3 tests
Capillary malformation-arteriovenous malformation 12 tests
Capillary malformation-arteriovenous malformation syndrome1 test
Carcinoma of colon1 test
Carcinoma of pancreas3 tests
Cardiac valvular dysplasia, X-linked3 tests
Cardiofaciocutaneous syndrome 11 test
Cardiofaciocutaneous syndrome 31 test
Cardiofaciocutaneous syndrome 41 test
Carney complex, type 12 tests
Carney-Stratakis syndrome1 test
Carpenter syndrome2 tests
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
Cerebral folate transport deficiency1 test
Cerebroretinal microangiopathy with calcifications and cysts 12 tests
Cernunnos-XLF deficiency1 test
Ceroid lipofuscinosis, neuronal, 6A1 test
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency1 test
Chitayat syndrome1 test
Cholestasis of pregnancy1 test
Cholestasis, intrahepatic, of pregnancy, 31 test
Cholestasis, progressive familial intrahepatic, 41 test
Cholestasis, progressive familial intrahepatic, 51 test
Cholestasis, progressive familial intrahepatic, 81 test
Chondrosarcoma1 test
Chylomicron retention disease1 test
Ciliary dyskinesia, primary, 36, X-linked2 tests
Ciliary dyskinesia, primary, 372 tests
Ciliary dyskinesia, primary, 382 tests
Ciliary dyskinesia, primary, 402 tests
Ciliary dyskinesia, primary, 422 tests
Citrullinemia type II1 test
Cleidocranial dysostosis2 tests
Coats plus syndrome1 test
Coffin-Siris syndrome 12 tests
Coffin-Siris syndrome 51 test
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1 test
Colorectal cancer, hereditary nonpolyposis, type 21 test
Colorectal cancer, susceptibility to, 101 test
Colorectal cancer, susceptibility to, 121 test
Combined immunodeficiency due to DOCK8 deficiency1 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21 test
Combined oxidative phosphorylation defect type 271 test
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency2 tests
Congenital amegakaryocytic thrombocytopenia1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
Congenital bile acid synthesis defect 11 test
Congenital bile acid synthesis defect 21 test
Congenital central hypoventilation3 tests
Congenital contractural arachnodactyly1 test
Congenital diarrhea 5 with tufting enteropathy1 test
Congenital diarrhea 61 test
Congenital diarrhea 7 with exudative enteropathy1 test
Congenital dyserythropoietic anemia type type 1B1 test
Congenital dyserythropoietic anemia, type I1 test
Congenital glucose-galactose malabsorption1 test
Congenital heart defects, multiple types, 51 test
Congenital lactase deficiency1 test
Congenital malabsorptive diarrhea 41 test
Congenital microvillous atrophy2 tests
Congenital muscular hypertrophy-cerebral syndrome1 test
Congenital myasthenic syndrome 181 test
Congenital prothrombin deficiency1 test
Congenital secretory diarrhea, chloride type1 test
Congenital secretory sodium diarrhea 81 test
Congenital sodium diarrhea1 test
Cornelia de Lange syndrome 11 test
Cornelia de Lange syndrome 31 test
Cornelia de Lange syndrome 41 test
Cornelia de Lange syndrome 51 test
Costello syndrome1 test
Cowden syndrome 14 tests
Coxopodopatellar syndrome2 tests
Cranioectodermal dysplasia 12 tests
Cranioectodermal dysplasia 22 tests
Cranioectodermal dysplasia 32 tests
Cranioectodermal dysplasia 41 test
Craniofrontonasal syndrome5 tests
Craniosynostosis 21 test
Craniosynostosis 41 test
Craniosynostosis 62 tests
Craniosynostosis 71 test
Creatine transporter deficiency1 test
Crouzon syndrome2 tests
Cutis laxa, autosomal dominant 11 test
Cutis laxa, autosomal dominant 21 test
Cutis laxa, autosomal recessive, type 1A1 test
Cutis laxa, autosomal recessive, type 1B1 test
Cystic fibrosis5 tests
DDX41-related hematologic malignancy predisposition syndrome1 test
DNA ligase IV deficiency1 test
DYRK1A-related intellectual disability syndrome1 test
Deficiency of acetyl-CoA acetyltransferase1 test
Deficiency of guanidinoacetate methyltransferase1 test
Desmoid disease, hereditary2 tests
Developmental and epileptic encephalopathy 941 test
Developmental and epileptic encephalopathy 981 test
Developmental and epileptic encephalopathy 991 test
Developmental and epileptic encephalopathy, 11 test
Developmental and epileptic encephalopathy, 111 test
Developmental and epileptic encephalopathy, 121 test
Developmental and epileptic encephalopathy, 131 test
Developmental and epileptic encephalopathy, 141 test
Developmental and epileptic encephalopathy, 151 test
Developmental and epileptic encephalopathy, 161 test
Developmental and epileptic encephalopathy, 171 test
Developmental and epileptic encephalopathy, 181 test
Developmental and epileptic encephalopathy, 191 test
Developmental and epileptic encephalopathy, 21 test
Developmental and epileptic encephalopathy, 241 test
Developmental and epileptic encephalopathy, 251 test
Developmental and epileptic encephalopathy, 261 test
Developmental and epileptic encephalopathy, 271 test
Developmental and epileptic encephalopathy, 281 test
Developmental and epileptic encephalopathy, 311 test
Developmental and epileptic encephalopathy, 321 test
Developmental and epileptic encephalopathy, 331 test
Developmental and epileptic encephalopathy, 341 test
Developmental and epileptic encephalopathy, 351 test
Developmental and epileptic encephalopathy, 361 test
Developmental and epileptic encephalopathy, 41 test
Developmental and epileptic encephalopathy, 421 test
Developmental and epileptic encephalopathy, 431 test
Developmental and epileptic encephalopathy, 441 test
Developmental and epileptic encephalopathy, 51 test
Developmental and epileptic encephalopathy, 521 test
Developmental and epileptic encephalopathy, 531 test
Developmental and epileptic encephalopathy, 541 test
Developmental and epileptic encephalopathy, 621 test
Developmental and epileptic encephalopathy, 661 test
Developmental and epileptic encephalopathy, 691 test
Developmental and epileptic encephalopathy, 71 test
Developmental and epileptic encephalopathy, 81 test
Developmental and epileptic encephalopathy, 841 test
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1 test
Developmental and epileptic encephalopathy, 91 test
Diabetes mellitus, permanent neonatal 32 tests
Diamond-Blackfan anemia1 test
Diaphyseal medullary stenosis-bone malignancy syndrome1 test
Diarrhea 10, protein-losing enteropathy type1 test
Diarrhea 12, with microvillus atrophy1 test
Diarrhea 91 test
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1 test
Drash syndrome1 test
Dubin-Johnson syndrome1 test
Dyskeratosis congenita3 tests
Dyskeratosis congenita, X-linked3 tests
Dyskeratosis congenita, autosomal dominant 12 tests
Dyskeratosis congenita, autosomal dominant 21 test
Dyskeratosis congenita, autosomal recessive 52 tests
Dyskeratosis congenita, autosomal recessive 62 tests
EAST syndrome1 test
Early myoclonic encephalopathy1 test
Ehlers-Danlos syndrome, arthrochalasia type1 test
Ehlers-Danlos syndrome, cardiac valvular type1 test
Ehlers-Danlos syndrome, classic type, 11 test
Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
Ehlers-Danlos syndrome, periodontal type 11 test
Ehlers-Danlos syndrome, periodontal type 21 test
Ehlers-Danlos syndrome, type 42 tests
Ehlers-danlos syndrome, arthrochalasia type, 21 test
Elliptocytosis1 test
Ellis-van Creveld syndrome1 test
Epidermolysis bullosa dystrophica1 test
Epilepsy1 test
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1 test
Epilepsy, childhood absence 21 test
Epilepsy, familial focal, with variable foci 21 test
Epilepsy, familial focal, with variable foci 31 test
Epilepsy, idiopathic generalized, susceptibility to, 121 test
Epilepsy, idiopathic generalized, susceptibility to, 131 test
Epilepsy, idiopathic generalized, susceptibility to, 151 test
Epilepsy, idiopathic generalized, susceptibility to, 81 test
Epilepsy, progressive myoclonic, 1B1 test
Epileptic encephalopathy, infantile or early childhood, 11 test
Episodic ataxia type 11 test
Exercise-induced hyperinsulinism1 test
Exostoses, multiple, type 21 test
FG syndrome 21 test
Familial adenomatous polyposis 12 tests
Familial adenomatous polyposis 23 tests
Familial cancer of breast3 tests
Familial cylindromatosis1 test
Familial encephalopathy with neuroserpin inclusion bodies1 test
Familial focal epilepsy with variable foci1 test
Familial hemophagocytic lymphohistiocytosis1 test
Familial infantile myoclonic epilepsy1 test
Familial meningioma4 tests
Familial porphyria cutanea tarda1 test
Familial pulmonary capillary hemangiomatosis2 tests
Familial spontaneous pneumothorax1 test
Familial temporal lobe epilepsy 71 test
Fanconi anemia1 test
Fanconi anemia complementation group A2 tests
Fanconi anemia complementation group C1 test
Fanconi anemia complementation group G1 test
Fanconi anemia complementation group O2 tests
Fanconi anemia complementation group Q2 tests
Febrile seizures, familial, 81 test
Feingold syndrome1 test
Feingold syndrome type 21 test
Follicular thyroid carcinoma1 test
Fragile X syndrome1 test
Frasier syndrome1 test
Frontometaphyseal dysplasia 11 test
Frontonasal dysplasia1 test
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1 test
Frontonasal dysplasia with alopecia and genital anomaly1 test
GM3 synthase deficiency1 test
Gastrointestinal stromal tumor1 test
Gaucher disease1 test
Generalized epilepsy with febrile seizures plus, type 11 test
Generalized epilepsy with febrile seizures plus, type 101 test
Generalized epilepsy with febrile seizures plus, type 21 test
Generalized epilepsy with febrile seizures plus, type 91 test
Gilbert syndrome1 test
Glycogen storage disease IXa11 test
Glycogen storage disease IXb1 test
Glycogen storage disease IXc1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
Glycogen storage disease type III1 test
Glycogen storage disease, type VI1 test
Glycogen storage disease, type VII1 test
Glycogen storage disorder due to hepatic glycogen synthase deficiency1 test
Gorlin syndrome1 test
Greig cephalopolysyndactyly syndrome1 test
HNSHA due to aldolase A deficiency1 test
Hartsfield-Bixler-Demyer syndrome2 tests
Hearing loss, X-linked 61 test
Hematologic neoplasm6 tests
Hemochromatosis type 11 test
Hemolytic anemia1 test
Hepatic adenomas, familial1 test
Hereditary acrodermatitis enteropathica1 test
Hereditary cryohydrocytosis with reduced stomatin1 test
Hereditary diffuse gastric adenocarcinoma3 tests
Hereditary hemorrhagic telangiectasia1 test
Hereditary leiomyomatosis and renal cell cancer4 tests
Hereditary pancreatitis2 tests
Hermansky-Pudlak syndrome 12 tests
Hermansky-Pudlak syndrome 22 tests
Hermansky-Pudlak syndrome 42 tests
Heterotopia, periventricular, X-linked dominant2 tests
Hypercholanemia, familial1 test
Hypercholesterolemia, autosomal dominant, type B1 test
Hyperinsulinemic hypoglycemia, familial, 12 tests
Hyperparathyroidism 2 with jaw tumors1 test
Hyperphosphatasia with intellectual disability syndrome 11 test
Hyperphosphatasia with intellectual disability syndrome 21 test
Hyperphosphatasia with intellectual disability syndrome 41 test
Hypophosphatasia1 test
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome1 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31 test
Infantile nephronophthisis2 tests
Inflammatory bowel disease1 test
Inherited bone marrow failure syndrome2 tests
Intellectual disability, X-linked 11 test
Intellectual disability, X-linked, syndromic, Houge type1 test
Intellectual disability, autosomal dominant 11 test
Intellectual disability, autosomal dominant 131 test
Intellectual disability, autosomal dominant 201 test
Intellectual disability, autosomal dominant 341 test
Intellectual disability, autosomal dominant 421 test
Intellectual disability, autosomal dominant 51 test
Intellectual disability, autosomal dominant 81 test
Interstitial lung disease 22 tests
Interstitial lung disease due to ABCA3 deficiency2 tests
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked2 tests
Jackson-Weiss syndrome2 tests
Joubert syndrome 101 test
Juvenile polyposis syndrome2 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome4 tests
KBG syndrome2 tests
Kabuki syndrome 11 test
Kabuki syndrome 21 test
Kartagener syndrome2 tests
Kostmann syndrome1 test
Kugelberg-Welander disease1 test
LEOPARD syndrome 11 test
LEOPARD syndrome 21 test
LEOPARD syndrome 31 test
Lafora disease1 test
Landau-Kleffner syndrome1 test
Langer mesomelic dysplasia syndrome3 tests
Larsen-like syndrome, B3GAT3 type1 test
Legius syndrome1 test
Leri-Weill dyschondrosteosis3 tests
Leukemia, acute lymphoblastic, susceptibility to4 tests
Leukemia, acute lymphoblastic, susceptibility to, 31 test
Leukemia, acute myeloid, susceptibility to3 tests
Li-Fraumeni syndrome 110 tests
Liddle syndrome 11 test
Liddle syndrome 21 test
Liddle syndrome 31 test
Lissencephaly type 1 due to doublecortin gene mutation1 test
Loeys-Dietz syndrome 12 tests
Loeys-Dietz syndrome 22 tests
Loeys-Dietz syndrome 41 test
Loeys-Dietz syndrome 61 test
Lung carcinoma1 test
Lymphoma2 tests
Lymphoproliferative syndrome 12 tests
Lynch syndrome1 test
Lynch syndrome 13 tests
Lynch syndrome 43 tests
Lynch syndrome 53 tests
Lynch syndrome 83 tests
Lysinuric protein intolerance2 tests
Lysosomal acid lipase deficiency1 test
MEGF8-related Carpenter syndrome2 tests
Malignant rhabdoid tumor, somatic1 test
Malignant tumor of urinary bladder1 test
Mandibulofacial dysostosis-microcephaly syndrome1 test
Marfan syndrome3 tests
McLeod neuroacanthocytosis syndrome1 test
Meester-Loeys syndrome1 test
Melanoma, cutaneous malignant, susceptibility to, 31 test
Melanoma-pancreatic cancer syndrome1 test
Melnick-Needles syndrome1 test
Metaphyseal chondrodysplasia, McKusick type1 test
Microcephaly, normal intelligence and immunodeficiency1 test
Microcephaly, seizures, and developmental delay1 test
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1 test
Miller syndrome1 test
Mismatch repair cancer syndrome 13 tests
Mitochondrial DNA depletion syndrome1 test
Mitochondrial DNA depletion syndrome 11 test
Mitochondrial disease3 tests
Mowat-Wilson syndrome1 test
Muenke syndrome2 tests
Muir-Torré syndrome2 tests
Mulibrey nanism syndrome1 test
Multiple congenital anomalies-hypotonia-seizures syndrome 11 test
Multiple congenital anomalies-hypotonia-seizures syndrome 21 test
Multiple congenital anomalies-hypotonia-seizures syndrome 31 test
Multiple endocrine neoplasia type 2A1 test
Multiple endocrine neoplasia type 2B2 tests
Multiple endocrine neoplasia type 41 test
Multiple endocrine neoplasia, type 13 tests
Multiple self-healing squamous epithelioma1 test
Myelodysplastic syndrome2 tests
Myhre syndrome1 test
Myoclonic-astatic epilepsy1 test
Nager syndrome1 test
Neonatal ichthyosis-sclerosing cholangitis syndrome1 test
Neonatal intrahepatic cholestasis due to citrin deficiency1 test
Neuroblastoma1 test
Neuroblastoma, susceptibility to, 36 tests
Neurodegeneration with brain iron accumulation 51 test
Neurofibromatosis, type 14 tests
Neurofibromatosis, type 21 test
Neurofibromatosis-Noonan syndrome1 test
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 131 test
Neuronal ceroid lipofuscinosis 31 test
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 71 test
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1 test
Neutropenia1 test
Neutropenia, severe congenital, 1, autosomal dominant1 test
Niemann-Pick disease, type C11 test
Niemann-Pick disease, type C21 test
Nijmegen breakage syndrome-like disorder3 tests
Nonsyndromic Deafness1 test
Noonan syndrome2 tests
Noonan syndrome 11 test
Noonan syndrome 101 test
Noonan syndrome 111 test
Noonan syndrome 21 test
Noonan syndrome 31 test
Noonan syndrome 41 test
Noonan syndrome 51 test
Noonan syndrome 61 test
Noonan syndrome 71 test
Noonan syndrome 81 test
Noonan syndrome 91 test
Noonan syndrome-like disorder with loose anagen hair1 test
Noonan syndrome-like disorder with loose anagen hair 21 test
Obesity due to prohormone convertase I deficiency1 test
Oculomaxillofacial dysostosis2 tests
Oligodontia-cancer predisposition syndrome1 test
Osteogenesis imperfecta1 test
Osteogenesis imperfecta type 51 test
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta, perinatal lethal1 test
Osteootohepatoenteric syndrome2 tests
Oto-palato-digital syndrome, type I1 test
Otofaciocervical syndrome 11 test
Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
PCWH syndrome1 test
PTEN hamartoma tumor syndrome4 tests
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1 test
Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
Pancreatic triacylglycerol lipase deficiency1 test
Paragangliomas 21 test
Paragangliomas 32 tests
Paragangliomas 52 tests
Parietal foramina with cleidocranial dysplasia1 test
Partington syndrome1 test
Pelger-Huet-like anomaly and episodic fever with abdominal pain1 test
Perlman syndrome1 test
Peutz-Jeghers syndrome4 tests
Pfeiffer syndrome2 tests
Pheochromocytoma2 tests
Phosphate transport defect1 test
Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome2 tests
Pitt-Hopkins syndrome1 test
Prader-Willi syndrome1 test
Primary ciliary dyskinesia2 tests
Primary ciliary dyskinesia 102 tests
Primary ciliary dyskinesia 112 tests
Primary ciliary dyskinesia 122 tests
Primary ciliary dyskinesia 132 tests
Primary ciliary dyskinesia 142 tests
Primary ciliary dyskinesia 152 tests
Primary ciliary dyskinesia 162 tests
Primary ciliary dyskinesia 172 tests
Primary ciliary dyskinesia 182 tests
Primary ciliary dyskinesia 192 tests
Primary ciliary dyskinesia 22 tests
Primary ciliary dyskinesia 202 tests
Primary ciliary dyskinesia 212 tests
Primary ciliary dyskinesia 222 tests
Primary ciliary dyskinesia 232 tests
Primary ciliary dyskinesia 242 tests
Primary ciliary dyskinesia 252 tests
Primary ciliary dyskinesia 262 tests
Primary ciliary dyskinesia 272 tests
Primary ciliary dyskinesia 282 tests
Primary ciliary dyskinesia 292 tests
Primary ciliary dyskinesia 32 tests
Primary ciliary dyskinesia 302 tests
Primary ciliary dyskinesia 322 tests
Primary ciliary dyskinesia 332 tests
Primary ciliary dyskinesia 342 tests
Primary ciliary dyskinesia 352 tests
Primary ciliary dyskinesia 62 tests
Primary ciliary dyskinesia 72 tests
Primary ciliary dyskinesia 92 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
Progressive familial intrahepatic cholestasis1 test
Progressive familial intrahepatic cholestasis type 21 test
Progressive myoclonic epilepsy type 31 test
Progressive myoclonic epilepsy type 71 test
Progressive sclerosing poliodystrophy1 test
Protein-losing enteropathy1 test
Pulmonary alveolar proteinosis with hypogammaglobulinemia2 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 12 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 23 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 32 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 42 tests
Pulmonary hypertension, primary, 12 tests
Pulmonary hypertension, primary, 22 tests
Pulmonary hypertension, primary, 32 tests
Pulmonary hypertension, primary, 42 tests
Pyridoxal phosphate-responsive seizures1 test
Pyridoxine-dependent epilepsy1 test
Pyropoikilocytosis, hereditary1 test
Pyruvate kinase deficiency of red cells1 test
Rajab interstitial lung disease with brain calcifications 12 tests
Renal cell carcinoma1 test
Renal cysts and diabetes syndrome1 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness2 tests
Retinoblastoma1 test
Rett syndrome4 tests
Rett syndrome, congenital variant1 test
Revesz syndrome3 tests
Rhabdoid tumor predisposition syndrome 11 test
Rhabdoid tumor predisposition syndrome 22 tests
Rhabdomyosarcoma, embryonal, 21 test
Rienhoff syndrome1 test
Roberts-SC phocomelia syndrome1 test
Rubinstein-Taybi syndrome1 test
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1 test
SHOX-related short stature3 tests
SLC35A2-congenital disorder of glycosylation1 test
Saethre-Chotzen syndrome5 tests
Schuurs-Hoeijmakers syndrome1 test
Schwannomatosis 12 tests
Seizures, benign familial infantile, 21 test
Seizures, benign familial infantile, 31 test
Seizures, benign familial infantile, 51 test
Seizures, benign familial neonatal, 11 test
Seizures, benign familial neonatal, 21 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency2 tests
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome2 tests
Severe myoclonic epilepsy in infancy1 test
Shprintzen-Goldberg syndrome3 tests
Shwachman syndrome2 tests
Shwachman-Diamond syndrome 12 tests
Sickle cell disease and related diseases1 test
Simpson-Golabi-Behmel syndrome type 21 test
Sitosterolemia1 test
Solid tumor6 tests
Spermatogenic failure 462 tests
Spherocytosis1 test
Spinal muscular atrophy, type II1 test
Spinal muscular atrophy, type IV1 test
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1 test
Stickler syndrome type 11 test
Stickler syndrome type 21 test
Stickler syndrome, IIa 61 test
Stickler syndrome, type 41 test
Stickler syndrome, type 51 test
Stomatocytosis1 test
Succinate-semialdehyde dehydrogenase deficiency1 test
Succinyl-CoA acetoacetate transferase deficiency1 test
Sucrase-isomaltase deficiency1 test
Surfactant metabolism dysfunction, pulmonary, 12 tests
Surfactant metabolism dysfunction, pulmonary, 22 tests
Surfactant metabolism dysfunction, pulmonary, 42 tests
Surfactant metabolism dysfunction, pulmonary, 52 tests
Syndromic X-linked intellectual disability Najm type2 tests
T-cell acute lymphoblastic leukemia1 test
TCF12-related craniosynostosis2 tests
TWIST1-related craniosynostosis2 tests
Telangiectasia, hereditary hemorrhagic, type 11 test
Telangiectasia, hereditary hemorrhagic, type 22 tests
Telangiectasia, hereditary hemorrhagic, type 52 tests
Terminal osseous dysplasia-pigmentary defects syndrome1 test
Thiopurine response8 tests
Thoracic aortic aneurysm1 test
Thrombocytopenia1 test
Thrombocytopenia 11 test
Thrombophilia due to activated protein C resistance1 test
Thrombophilia due to thrombin defect1 test
Thyroid cancer, nonmedullary, 51 test
Townes-Brocks syndrome 11 test
Treacher Collins syndrome 11 test
Treacher Collins syndrome 21 test
Treacher Collins syndrome 31 test
Trichohepatoenteric syndrome 11 test
Trichohepatoenteric syndrome 21 test
Tuberous sclerosis 12 tests
Tuberous sclerosis 22 tests
Tyrosinemia type I1 test
Unverricht-Lundborg syndrome1 test
Vesicoureteral reflux 32 tests
Von Hippel-Lindau syndrome6 tests
Waardenburg syndrome type 11 test
Waardenburg syndrome type 2A1 test
Waardenburg syndrome type 2D1 test
Waardenburg syndrome type 2E1 test
Waardenburg syndrome type 31 test
Waardenburg syndrome type 4A1 test
Waardenburg syndrome type 4B1 test
Waardenburg syndrome type 4C1 test
Wagner syndrome1 test
Warsaw breakage syndrome1 test
Werdnig-Hoffmann disease1 test
Werner syndrome2 tests
Wilms tumor 11 test
Wiskott-Aldrich syndrome1 test
Wolman disease1 test
X-linked Alport syndrome2 tests
X-linked Opitz G/BBB syndrome4 tests
X-linked intellectual disability with marfanoid habitus1 test
X-linked intellectual disability, Cantagrel type1 test
X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
X-linked spondyloepimetaphyseal dysplasia1 test
Xeroderma pigmentosum group A1 test
Xeroderma pigmentosum group B1 test
Xeroderma pigmentosum variant type1 test
Xeroderma pigmentosum, group C1 test
Xeroderma pigmentosum, group D1 test
Xeroderma pigmentosum, group E1 test
Xeroderma pigmentosum, group G1 test
alpha Thalassemia3 tests
beta Thalassemia3 tests