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: 1891

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
AKAP21Jan 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
AOPEP1Aug 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
BLM1Aug 10, 2015
BLNK1Jan 6, 2016
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
CAVIN11Aug 10, 2015
CBL3Oct 24, 2016
CCDC1981Jan 6, 2016
CCDC221Aug 10, 2015
CCDC331Aug 10, 2015
CCDC402Aug 10, 2015
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
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
CTNNB11Aug 10, 2015
CTTNBP21Jan 6, 2016
CXCR21Jan 6, 2016
CYB5A1Jan 6, 2016
CYB5R31Jan 6, 2016
CYBA1Jan 6, 2016
CYLD29Oct 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
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
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
EPS81Jan 6, 2016
ERCC31Aug 10, 2015
ERCC41Aug 10, 2015
ERCC61Jan 6, 2016
ERCC6-PGBD31Jan 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
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
GUCY2C1Jan 6, 2016
HACD11Aug 10, 2015
HAND11Jan 6, 2016
HCN21Jan 6, 2016
HERC27Jan 6, 2016
HESX11Aug 10, 2015
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
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
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
KDM5C1Jan 6, 2016
KDM6B5Jan 6, 2016
KIAA11091Aug 10, 2015
KIF1A1Aug 10, 2015
KIF1B2Aug 10, 2015
KIF73Jan 6, 2016
KLF81Jan 6, 2016
KLHL411Aug 10, 2015
KMT2A4Jan 6, 2016
KMT2C4Aug 10, 2015
KMT2D3Jan 6, 2016
KPTN1Jan 6, 2016
KRTAP1-11Aug 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
LOC1001307981Jan 6, 2016
LOC1001316261Aug 10, 2015
LOC1002895801Jan 6, 2016
LOC1019278701Jan 6, 2016
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
LOC1079639551Aug 10, 2015
LOC1079822341Jan 6, 2016
LOC1086639851Jan 6, 2016
LOC1086639931Aug 10, 2015
LOC1096106311Mar 23, 2015
LOC1125336711Aug 10, 2015
LOC1126947561Jan 6, 2016
LOC4014631Aug 10, 2015
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
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
MLXIPL1Aug 10, 2015
MLYCD1Jan 6, 2016
MMADHC1Aug 10, 2015
MOCS21Aug 10, 2015
MOGS2Jan 6, 2016
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
NRG11Aug 10, 2015
NRP21Aug 10, 2015
NRXN11Aug 10, 2015
NSD13Jan 6, 2016
NUP621Jan 6, 2016
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
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
PTPN221Aug 10, 2015
PTPN232Jan 6, 2016
PTPRQ1Aug 10, 2015
PTPRT1Aug 10, 2015
PURA1Jan 6, 2016
PYGM1Jan 6, 2016
RAB3GAP21Jan 6, 2016
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
SBDS1Aug 10, 2015
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
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
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
STAT11Jan 6, 2016
STAT5B1Jan 6, 2016
STK112Jan 6, 2016
STPG11Aug 10, 2015
SUCLG11Jan 6, 2016
SYN11Jan 6, 2016
SYNE12Aug 10, 2015
SYNE23Jan 6, 2016
SYNE41Aug 10, 2015
SYNGAP11Aug 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
TP533Jan 6, 2016
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
ZNF6741Jan 6, 2016
ZNF7781Jan 6, 2016
ZNF804A1Jan 6, 2016
ZSWIM63Jan 6, 2016

Condition

NameSubmissionsLast Updated
Acrocephalosyndactyly type I3Oct 24, 2016
Aortic aneurysm, familial thoracic 48Sep 27, 2019
Arrhythmogenic right ventricular cardiomyopathy36Jan 6, 2016
Beare-Stevenson cutis gyrata syndrome1Oct 24, 2016
Blepharophimosis, ptosis, and epicanthus inversus62Dec 14, 2016
Breast and colorectal cancer, susceptibility to1May 4, 2018
Brooke-Spiegler syndrome6Oct 14, 2016
Brugada syndrome6Jan 6, 2016
Brugada syndrome 14Aug 10, 2015
CHARGE association41Oct 24, 2016
Cardiomyopathy2Jan 6, 2016
Catecholaminergic polymorphic ventricular tachycardia5Jan 6, 2016
Catecholaminergic polymorphic ventricular tachycardia type 14Aug 10, 2015
Craniofrontonasal syndrome5Oct 24, 2016
Craniosynostosis, nonspecific6Dec 14, 2016
Crouzon syndrome16Oct 24, 2016
Crouzon syndrome with acanthosis nigricans2Oct 24, 2016
Cylindromatosis, familial22Oct 14, 2016
Deafness, autosomal dominant 3a1May 17, 2017
Deafness, autosomal recessive 1A47May 17, 2017
Deafness, autosomal recessive 281May 4, 2018
Dilated cardiomyopathy 1A3Jan 6, 2016
Ehlers-Danlos syndrome, type 43Jan 6, 2016
Erythrocytosis, familial, 21Mar 2, 2016
Esophageal and colonic dysmotility1Sep 27, 2019
Fabry disease4Jan 6, 2016
Familial hypercholesterolemia 130Jan 6, 2016
Familial hypercholesterolemia 33Jan 6, 2016
Familial hypertrophic cardiomyopathy 14Jan 6, 2016
Familial hypertrophic cardiomyopathy 101Aug 10, 2015
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 21Oct 24, 2016
Frontonasal dysplasia 31Oct 24, 2016
Hereditary breast and ovarian cancer syndrome39Jan 6, 2016
Hereditary leiomyomatosis and renal cell cancer54Jan 18, 2017
Ichthyosis vulgaris1May 4, 2018
Jackson-Weiss syndrome2Oct 24, 2016
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
MYH-associated polyposis4Jan 6, 2016
Malignant hyperthermia2Jan 6, 2016
Malignant hypothermia14Jan 6, 2016
Marfan syndrome5Jan 6, 2016
Mental retardation and microcephaly with pontine and cerebellar hypoplasia1Oct 24, 2016
Muenke syndrome1Oct 24, 2016
Multiple endocrine neoplasia5Aug 10, 2015
Multiple fibrofolliculomas60Aug 10, 2016
Neuroblastoma 314Nov 10, 2015
Neurofibromatosis, type 21Aug 10, 2015
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia3Oct 24, 2016
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
Syndromic intellectual disability1Jan 14, 2015
Thanatophoric dysplasia type 11Oct 24, 2016
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
13q partial monosomy syndrome1 test
2q24 microdeletion syndrome1 test
46,XY disorder of sex development and 46,XY complete gonadal dysgenesis1 test
8p23.1 microdeletion syndrome1 test
Acrofacial dysostosis, Cincinnati type3 tests
Acromesomelic dysplasia, Demirhan type6 tests
Acute lymphoid leukemia4 tests
Acute myeloid leukemia4 tests
Alagille syndrome 111 tests
Alagille syndrome 211 tests
Alpha-1-antitrypsin deficiency2 tests
Alport syndrome 1, X-linked recessive7 tests
Alport syndrome 3, autosomal dominant4 tests
Alport syndrome, autosomal recessive4 tests
Alstrom syndrome1 test
Anemia1 test
Angelman syndrome2 tests
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis6 tests
Aortic aneurysm, familial thoracic 103 tests
Aortic aneurysm, familial thoracic 11, susceptibility to3 tests
Aortic aneurysm, familial thoracic 43 tests
Aortic aneurysm, familial thoracic 63 tests
Aortic aneurysm, familial thoracic 73 tests
Aortic aneurysm, familial thoracic 93 tests
Aortic valve disease 23 tests
Aortic valve disorder3 tests
Arginine:glycine amidinotransferase deficiency1 test
Arterial tortuosity syndrome3 tests
Arthrogryposis, renal dysfunction, and cholestasis 12 tests
Arthrogryposis, renal dysfunction, and cholestasis 22 tests
Ataxia-telangiectasia syndrome9 tests
Atrial fibrillation, familial, 76 tests
Auriculocondylar syndrome 23 tests
Auriculocondylar syndrome 33 tests
Autism spectrum disorder1 test
Autism, susceptibility to, X-linked 41 test
Autoimmune disease, multisystem, infantile-onset, 13 tests
Autoimmune interstitial lung, joint, and kidney disease6 tests
Autoimmune lymphoproliferatiVe syndrome, type V3 tests
Autoimmune lymphoproliferative syndrome, type III3 tests
Autosomal dominant nonsyndromic deafness 171 test
Autosomal dominant nonsyndromic deafness 2A1 test
Autosomal dominant nonsyndromic deafness 61 test
Autosomal recessive cutis laxa type 1B3 tests
B-cell acute lymphoblastic leukemia1 test
Bainbridge-Ropers syndrome4 tests
Baller-Gerold syndrome3 tests
Bartter disease type 4a1 test
Beckwith-Wiedemann syndrome2 tests
Benign familial neonatal seizures 11 test
Benign familial neonatal seizures 21 test
Benign recurrent intrahepatic cholestasis type 22 tests
Blepharophimosis, ptosis, and epicanthus inversus3 tests
Bloom syndrome2 tests
Bohring-Opitz syndrome3 tests
Bone fragility with contractures, arterial rupture, and deafness3 tests
Brain malformations and urinary tract defects1 test
Branchiootic syndrome3 tests
Branchiootic syndrome 36 tests
Branchiootorenal syndrome 26 tests
Breast-ovarian cancer, familial 17 tests
Breast-ovarian cancer, familial 27 tests
Brooke-Spiegler syndrome2 tests
Brown-Vialetto-Van Laere syndrome 21 test
C syndrome6 tests
CARASIL2 tests
CHARGE association7 tests
CHROMOSOME 1qter DELETION SYNDROME1 test
Capillary malformation-arteriovenous malformation 16 tests
Carcinoma of colon1 test
Carcinoma of pancreas5 tests
Cardiac valvular dysplasia, X-linked3 tests
Cardiofaciocutaneous syndrome 31 test
Cardiofaciocutaneous syndrome 41 test
Carney complex, type 13 tests
Carpenter syndrome 16 tests
Carpenter syndrome 26 tests
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 12 tests
Cerebral folate transport deficiency1 test
Cerebro-costo-mandibular syndrome3 tests
Cerebroretinal microangiopathy with calcifications and cysts1 test
Ceroid lipofuscinosis, neuronal, 131 test
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant1 test
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia1 test
Chitayat syndrome3 tests
Cholestasis of pregnancy2 tests
Cholestasis, benign recurrent intrahepatic 12 tests
Cholestasis, intrahepatic, of pregnancy 32 tests
Cholestasis, progressive familial intrahepatic 12 tests
Cholestasis, progressive familial intrahepatic, 52 tests
Chondrosarcoma1 test
Choreoathetosis, hypothyroidism, and neonatal respiratory distress6 tests
Chromosome 1, deletion q21 q251 test
Chromosome 1, duplication 1p21 p321 test
Chromosome 1, monosomy 1p22 p131 test
Chromosome 1, monosomy 1p31 p221 test
Chromosome 1, monosomy 1p321 test
Chromosome 1, monosomy 1p34 p321 test
Chromosome 1, monosomy 1q25 q321 test
Chromosome 1, monosomy 1q32 q421 test
Chromosome 1, trisomy 1q32 qter1 test
Chromosome 1, trisomy 1q42-qter1 test
Chromosome 1, uniparental disomy 1q12 q211 test
Chromosome 10, distal trisomy 10q1 test
Chromosome 10, trisomy 10pter p131 test
Chromosome 10q22.3-q23.2 deletion syndrome1 test
Chromosome 10q26 deletion syndrome1 test
Chromosome 11, deletion 11p1 test
Chromosome 11, partial trisomy 11q1 test
Chromosome 11;14 translocation1 test
Chromosome 11p, partial deletion1 test
Chromosome 11q trisomy1 test
Chromosome 12p deletion1 test
Chromosome 13, partial monosomy 13q1 test
Chromosome 13p duplication1 test
Chromosome 13q deletion1 test
Chromosome 13q-mosaicism1 test
Chromosome 14 deletion1 test
Chromosome 14 trisomy1 test
Chromosome 14, deletion 14q, partial duplication 14p1 test
Chromosome 14;16 translocation1 test
Chromosome 14q, partial deletions1 test
Chromosome 14q, proximal duplication1 test
Chromosome 14q11-q22 deletion syndrome1 test
Chromosome 15, distal trisomy 15q1 test
Chromosome 15q duplication mosaicism1 test
Chromosome 15q, partial deletion1 test
Chromosome 15q, tetrasomy1 test
Chromosome 15q11-q13 duplication syndrome1 test
Chromosome 15q11.2 deletion syndrome1 test
Chromosome 15q11.2 duplication syndrome1 test
Chromosome 15q25 deletion syndrome1 test
Chromosome 15q26-qter deletion syndrome1 test
Chromosome 16 inversion, 0.45-mb1 test
Chromosome 16, trisomy1 test
Chromosome 16, uniparental disomy1 test
Chromosome 16p11.2 deletion syndrome, 220 kb1 test
Chromosome 16p11.2 duplication syndrome1 test
Chromosome 16p12.1 deletion syndrome, 520kb1 test
Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB1 test
Chromosome 16p13.3 duplication syndrome1 test
Chromosome 16q22 deletion syndrome1 test
Chromosome 17, deletion 17q23 q241 test
Chromosome 17, duplication1 test
Chromosome 17p deletion1 test
Chromosome 17p13.1 deletion syndrome1 test
Chromosome 17p13.3, centromeric, duplication syndrome1 test
Chromosome 17q11.2 deletion syndrome, 1.4 MB1 test
Chromosome 17q12 deletion syndrome1 test
Chromosome 17q12 duplication syndrome1 test
Chromosome 17q21.31 duplication syndrome1 test
Chromosome 17q23.1-q23.2 deletion syndrome1 test
Chromosome 17q23.1-q23.2 duplication syndrome1 test
Chromosome 18 mosaic monosomy1 test
Chromosome 18 pericentric inversion1 test
Chromosome 19 ring syndrome1 test
Chromosome 19p13.13 deletion syndrome1 test
Chromosome 19q13.11 deletion syndrome1 test
Chromosome 1p36 deletion syndrome1 test
Chromosome 1q deletion1 test
Chromosome 1q, duplication 1q12 q211 test
Chromosome 1q21.1 duplication syndrome1 test
Chromosome 2, duplication(2)(p13)(p21)1 test
Chromosome 2, monosomy 2p221 test
Chromosome 2, monosomy 2pter p241 test
Chromosome 2, trisomy 2pter p241 test
Chromosome 2, trisomy 2q371 test
Chromosome 21, monosomy 21q221 test
Chromosome 21, tetrasomy 21q1 test
Chromosome 21, uniparental disomy of1 test
Chromosome 22, monosome mosaic1 test
Chromosome 22, trisomy q11 q131 test
Chromosome 22q deletion1 test
Chromosome 22q11.2 deletion syndrome, distal1 test
Chromosome 22q13 duplication syndrome1 test
Chromosome 2p12-p11.2 deletion syndrome1 test
Chromosome 2q23.1 deletion syndrome1 test
Chromosome 2q23.1 duplication syndrome1 test
Chromosome 2q31.1 duplication syndrome1 test
Chromosome 2q31.2 deletion syndrome1 test
Chromosome 2q32-q33 deletion syndrome1 test
Chromosome 2q37 deletion syndrome1 test
Chromosome 3 duplication syndrome1 test
Chromosome 3, monosomy 3p1 test
Chromosome 3, monosomy 3p14 p111 test
Chromosome 3, monosomy 3q131 test
Chromosome 3, monosomy 3q21 231 test
Chromosome 3, monosomy 3q271 test
Chromosome 3, trisomy 3p251 test
Chromosome 3, trisomy 3q13 2 q251 test
Chromosome 3pter-p25 deletion syndrome1 test
Chromosome 3q13.31 deletion syndrome1 test
Chromosome 3q29 microduplication syndrome1 test
Chromosome 4 short arm deletion1 test
Chromosome 4, Trisomy 4p1 test
Chromosome 4, monosomy 4p14 p161 test
Chromosome 4, monosomy 4q321 test
Chromosome 4, monosomy distal 4q1 test
Chromosome 4, partial trisomy distal 4q1 test
Chromosome 4, trisomy 4q211 test
Chromosome 4, trisomy 4q25 qter1 test
Chromosome 4q21 deletion syndrome1 test
Chromosome 4q32.1-q32.2 triplication syndrome1 test
Chromosome 5, trisomy 5pter p13 31 test
Chromosome 5, uniparental disomy1 test
Chromosome 5p13 duplication syndrome1 test
Chromosome 5q12 deletion syndrome1 test
Chromosome 5q14.3 deletion syndrome1 test
Chromosome 6, deletion 6q13 q151 test
Chromosome 6, monosomy 6p231 test
Chromosome 6, monosomy 6q11 test
Chromosome 6, monosomy 6q21 test
Chromosome 6pter-p24 deletion syndrome1 test
Chromosome 6q24-q25 deletion syndrome1 test
Chromosome 7, monosomy1 test
Chromosome 7, monosomy 7q21 test
Chromosome 7, monosomy 7q211 test
Chromosome 7, monosomy 7q31 test
Chromosome 7, partial monosomy 7p1 test
Chromosome 7, trisomy 7p13 p12 21 test
Chromosome 7q11.23 deletion syndrome, distal, 1.2-mb1 test
Chromosome 8, monosomy 8p1 test
Chromosome 8, monosomy 8p21 test
Chromosome 8, mosaic trisomy1 test
Chromosome 8, partial trisomy1 test
Chromosome 8-derived supernumerary ring/marker1 test
Chromosome 8p11 myeloproliferative syndrome1 test
Chromosome 8q21.11 deletion syndrome1 test
Chromosome 9 translocation1 test
Chromosome 9, deletion 9q21.33q22.321 test
Chromosome 9, duplication 9q211 test
Chromosome 9, trisomy 9p1 test
Chromosome 9, trisomy 9q1 test
Chromosome 9, trisomy 9q321 test
Chromosome 9p deletion syndrome1 test
Chromosome 9q duplication1 test
Chromosome Xp11.3 deletion syndrome1 test
Chromosome Xp21 deletion syndrome1 test
Chromosome Xq26.3 duplication syndrome1 test
Chromosome Xq27.3-q28 duplication syndrome1 test
Chromosome Xq28 deletion syndrome1 test
Chromosomes 1 and 2, monosomy 2q duplication 1p1 test
Chudley-McCullough syndrome1 test
Chylomicron retention disease3 tests
Ciliary dyskinesia, primary, 106 tests
Ciliary dyskinesia, primary, 116 tests
Ciliary dyskinesia, primary, 126 tests
Ciliary dyskinesia, primary, 136 tests
Ciliary dyskinesia, primary, 146 tests
Ciliary dyskinesia, primary, 156 tests
Ciliary dyskinesia, primary, 166 tests
Ciliary dyskinesia, primary, 176 tests
Ciliary dyskinesia, primary, 186 tests
Ciliary dyskinesia, primary, 196 tests
Ciliary dyskinesia, primary, 26 tests
Ciliary dyskinesia, primary, 206 tests
Ciliary dyskinesia, primary, 216 tests
Ciliary dyskinesia, primary, 224 tests
Ciliary dyskinesia, primary, 263 tests
Ciliary dyskinesia, primary, 276 tests
Ciliary dyskinesia, primary, 286 tests
Ciliary dyskinesia, primary, 296 tests
Ciliary dyskinesia, primary, 36 tests
Ciliary dyskinesia, primary, 306 tests
Ciliary dyskinesia, primary, 326 tests
Ciliary dyskinesia, primary, 336 tests
Ciliary dyskinesia, primary, 56 tests
Ciliary dyskinesia, primary, 66 tests
Ciliary dyskinesia, primary, 76 tests
Ciliary dyskinesia, primary, 96 tests
Classic homocystinuria1 test
Cleidocranial dysostosis6 tests
Coffin-Siris syndrome 12 tests
Colorectal cancer 102 tests
Colorectal cancer, susceptibility to, 121 test
Combined oxidative phosphorylation deficiency 271 test
Common variable immunodeficiency 13 tests
Common variable immunodeficiency 103 tests
Common variable immunodeficiency 113 tests
Common variable immunodeficiency 73 tests
Common variable immunodeficiency 8, with autoimmunity3 tests
Congenital amegakaryocytic thrombocytopenia1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation3 tests
Congenital bile acid synthesis defect 12 tests
Congenital bile acid synthesis defect 22 tests
Congenital central hypoventilation3 tests
Congenital contractural arachnodactyly3 tests
Congenital dyserythropoietic anemia type type 1B1 test
Congenital dyserythropoietic anemia, type I1 test
Congenital glucose-galactose malabsorption3 tests
Congenital lactase deficiency3 tests
Congenital microvillous atrophy5 tests
Congenital muscular hypertrophy-cerebral syndrome3 tests
Congenital secretory diarrhea, chloride type3 tests
Congenital secretory diarrhea, sodium type3 tests
Corneal endothelial dystrophy1 test
Cornelia de Lange syndrome 13 tests
Cornelia de Lange syndrome 33 tests
Cornelia de Lange syndrome 43 tests
Cornelia de Lange syndrome 53 tests
Costello syndrome1 test
Cowden syndrome 18 tests
Cranioectodermal dysplasia 16 tests
Cranioectodermal dysplasia 26 tests
Cranioectodermal dysplasia 36 tests
Cranioectodermal dysplasia 43 tests
Craniofrontonasal syndrome9 tests
Craniosynostosis 16 tests
Craniosynostosis 23 tests
Craniosynostosis 36 tests
Craniosynostosis 43 tests
Craniosynostosis 66 tests
Creatine transporter deficiency1 test
Cutaneous malignant melanoma 34 tests
Cylindromatosis, familial1 test
Cystic fibrosis14 tests
Deafness and myopia1 test
Deafness with labyrinthine aplasia microtia and microdontia (LAMM)1 test
Deafness, X-linked 11 test
Deafness, X-linked 21 test
Deafness, X-linked 41 test
Deafness, autosomal dominant 11 test
Deafness, autosomal dominant 101 test
Deafness, autosomal dominant 111 test
Deafness, autosomal dominant 121 test
Deafness, autosomal dominant 131 test
Deafness, autosomal dominant 151 test
Deafness, autosomal dominant 221 test
Deafness, autosomal dominant 231 test
Deafness, autosomal dominant 251 test
Deafness, autosomal dominant 281 test
Deafness, autosomal dominant 361 test
Deafness, autosomal dominant 441 test
Deafness, autosomal dominant 4b1 test
Deafness, autosomal dominant 51 test
Deafness, autosomal dominant 651 test
Deafness, autosomal dominant 671 test
Deafness, autosomal recessive 1011 test
Deafness, autosomal recessive 1021 test
Deafness, autosomal recessive 1031 test
Deafness, autosomal recessive 121 test
Deafness, autosomal recessive 151 test
Deafness, autosomal recessive 164 tests
Deafness, autosomal recessive 181 test
Deafness, autosomal recessive 18b1 test
Deafness, autosomal recessive 1A2 tests
Deafness, autosomal recessive 1b1 test
Deafness, autosomal recessive 21 test
Deafness, autosomal recessive 211 test
Deafness, autosomal recessive 221 test
Deafness, autosomal recessive 231 test
Deafness, autosomal recessive 241 test
Deafness, autosomal recessive 251 test
Deafness, autosomal recessive 281 test
Deafness, autosomal recessive 291 test
Deafness, autosomal recessive 31 test
Deafness, autosomal recessive 301 test
Deafness, autosomal recessive 311 test
Deafness, autosomal recessive 351 test
Deafness, autosomal recessive 36, with or without vestibular involvement1 test
Deafness, autosomal recessive 371 test
Deafness, autosomal recessive 391 test
Deafness, autosomal recessive 421 test
Deafness, autosomal recessive 481 test
Deafness, autosomal recessive 491 test
Deafness, autosomal recessive 531 test
Deafness, autosomal recessive 591 test
Deafness, autosomal recessive 61 test
Deafness, autosomal recessive 631 test
Deafness, autosomal recessive 671 test
Deafness, autosomal recessive 681 test
Deafness, autosomal recessive 71 test
Deafness, autosomal recessive 741 test
Deafness, autosomal recessive 761 test
Deafness, autosomal recessive 771 test
Deafness, autosomal recessive 791 test
Deafness, autosomal recessive 841 test
Deafness, autosomal recessive 84b1 test
Deafness, autosomal recessive 861 test
Deafness, autosomal recessive 91 test
Deafness, autosomal recessive 911 test
Deafness, autosomal recessive 931 test
Deafness, autosomal recessive 981 test
Deafness, congenital, with onychodystrophy, autosomal dominant1 test
Deficiency of acetyl-CoA acetyltransferase6 tests
Deficiency of guanidinoacetate methyltransferase1 test
Deletion of long arm of chromosome 181 test
Deletion of short arm of chromosome 181 test
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency6 tests
Desmoid disease, hereditary5 tests
Developmental and epileptic encephalopathy, 661 test
Developmental and epileptic encephalopathy, 691 test
Developmental and epileptic encephalopathy, 841 test
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1 test
DiGeorge sequence3 tests
Diamond-Blackfan anemia1 test
Diaphyseal medullary stenosis-bone malignancy syndrome1 test
Diarrhea 4, malabsorptive, congenital3 tests
Diarrhea 5, with tufting enteropathy, congenital3 tests
Diarrhea 63 tests
Diarrhea 73 tests
Diarrhea 8, secretory sodium, congenital3 tests
Distal monosomy 9p1 test
Distal trisomy 14q1 test
Distal trisomy 6q1 test
Dubin-Johnson syndrome2 tests
Dyskeratosis congenita1 test
Dyskeratosis congenita, X-linked7 tests
Dyskeratosis congenita, autosomal dominant 13 tests
Dyskeratosis congenita, autosomal dominant, 23 tests
EAST syndrome1 test
Early infantile epileptic encephalopathy 101 test
Early infantile epileptic encephalopathy 111 test
Early infantile epileptic encephalopathy 121 test
Early infantile epileptic encephalopathy 131 test
Early infantile epileptic encephalopathy 151 test
Early infantile epileptic encephalopathy 161 test
Early infantile epileptic encephalopathy 171 test
Early infantile epileptic encephalopathy 181 test
Early infantile epileptic encephalopathy 21 test
Early infantile epileptic encephalopathy 341 test
Early infantile epileptic encephalopathy 41 test
Early infantile epileptic encephalopathy 51 test
Early infantile epileptic encephalopathy 621 test
Early infantile epileptic encephalopathy 71 test
Early infantile epileptic encephalopathy 81 test
Early infantile epileptic encephalopathy 91 test
Early myoclonic encephalopathy1 test
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form3 tests
Ehlers-Danlos syndrome, classic type3 tests
Ehlers-Danlos syndrome, hydroxylysine-deficient3 tests
Ehlers-Danlos syndrome, procollagen proteinase deficient3 tests
Ehlers-Danlos syndrome, type 46 tests
Elliptocytosis1 test
Ellis-van Creveld syndrome3 tests
Encephalopathy, familial, with neuroserpin inclusion bodies1 test
Endometrial carcinoma1 test
Enlarged vestibular aqueduct syndrome1 test
Epilepsy1 test
Epilepsy, X-linked, 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, familial temporal lobe, 71 test
Epilepsy, focal, with speech disorder and with or without mental retardation1 test
Epilepsy, hearing loss, and mental retardation syndrome1 test
Epilepsy, idiopathic generalized 81 test
Epilepsy, idiopathic generalized, susceptibility to, 121 test
Epilepsy, idiopathic generalized, susceptibility to, 151 test
Epilepsy, juvenile myoclonic 51 test
Epilepsy, progressive myoclonic 31 test
Epilepsy, progressive myoclonic 4, with or without renal failure1 test
Epileptic encephalopathy, childhood-onset1 test
Epileptic encephalopathy, early infantile, 11 test
Epileptic encephalopathy, early infantile, 191 test
Epileptic encephalopathy, early infantile, 251 test
Epileptic encephalopathy, early infantile, 261 test
Epileptic encephalopathy, early infantile, 271 test
Epileptic encephalopathy, early infantile, 281 test
Epileptic encephalopathy, early infantile, 311 test
Epileptic encephalopathy, early infantile, 321 test
Epileptic encephalopathy, early infantile, 331 test
Epileptic encephalopathy, early infantile, 351 test
Epileptic encephalopathy, early infantile, 361 test
Epileptic encephalopathy, early infantile, 421 test
Epileptic encephalopathy, early infantile, 431 test
Epileptic encephalopathy, early infantile, 441 test
Epileptic encephalopathy, early infantile, 521 test
Epileptic encephalopathy, early infantile, 531 test
Epileptic encephalopathy, early infantile, 541 test
Epileptic encephalopathy, infantile or early childhood 11 test
Epiphyseal dysplasia, multiple, 31 test
Episodic ataxia type 11 test
Exercise-induced hyperinsulinism6 tests
Familial adenomatous polyposis 15 tests
Familial atypical mycobacteriosis, type 1, X-linked6 tests
Familial cancer of breast6 tests
Familial febrile seizures 81 test
Familial focal epilepsy with variable foci1 test
Familial hemophagocytic lymphohistiocytosis3 tests
Familial hypercholesterolemia 23 tests
Familial platelet disorder with associated myeloid malignancy1 test
Familial temporal lobe epilepsy 11 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 N1 test
Fanconi anemia, complementation group O2 tests
Fanconi anemia, complementation group Q1 test
Feingold syndrome 13 tests
Feingold syndrome 23 tests
Fragile X syndrome1 test
Frontonasal dysplasia 13 tests
Frontonasal dysplasia 23 tests
Frontonasal dysplasia 33 tests
Fructose-biphosphatase deficiency3 tests
Gastrointestinal stromal tumor2 tests
Generalized epilepsy with febrile seizures plus, type 11 test
Generalized epilepsy with febrile seizures plus, type 21 test
Generalized epilepsy with febrile seizures plus, type 91 test
Gilbert's syndrome1 test
Glioma of brain1 test
Glycogen storage disease IXb6 tests
Glycogen storage disease IXc6 tests
Glycogen storage disease IXd3 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA6 tests
Glycogen storage disease due to hepatic glycogen synthase deficiency6 tests
Glycogen storage disease type III6 tests
Glycogen storage disease type IXa16 tests
Glycogen storage disease, type II3 tests
Glycogen storage disease, type IV3 tests
Glycogen storage disease, type VI6 tests
Glycogen storage disease, type VII4 tests
Gorlin syndrome2 tests
Greig cephalopolysyndactyly syndrome3 tests
HNSHA due to aldolase A deficiency1 test
Hematologic neoplasm3 tests
Hemolytic anemia1 test
Hepatocellular carcinoma2 tests
Hereditary diffuse gastric cancer4 tests
Hereditary hemorrhagic telangiectasia type 16 tests
Hereditary leiomyomatosis and renal cell cancer5 tests
Hereditary mixed polyposis syndrome 21 test
Hereditary nonpolyposis colorectal cancer type 46 tests
Hereditary nonpolyposis colorectal cancer type 57 tests
Hereditary nonpolyposis colorectal cancer type 85 tests
Hereditary pancreatitis3 tests
Hereditary pyropoikilocytosis1 test
Hyper-IgM syndrome type 13 tests
Hyper-IgM syndrome type 23 tests
Hyper-IgM syndrome type 53 tests
Hypercholanemia, familial2 tests
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive4 tests
Hyperparathyroidism 23 tests
Hyperphosphatasia with mental retardation syndrome 11 test
Hyperphosphatasia with mental retardation syndrome 21 test
Hyperphosphatasia with mental retardation syndrome 41 test
Hypocalcemia, autosomal dominant 13 tests
Hypogonadotropic hypogonadism 5 with or without anosmia3 tests
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31 test
IL21R immunodeficiency3 tests
Immunodeficiency 26 with or without neurologic abnormalities3 tests
Immunodeficiency 31C3 tests
Immunodeficiency 31a3 tests
Immunodeficiency 363 tests
Immunodeficiency, common variable, 123 tests
Immunodeficiency, common variable, 133 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 11 test
Infantile nephronophthisis6 tests
Inflammatory bowel disease1 test
Inherited bone marrow failure syndrome3 tests
Interstitial lung and liver disease6 tests
Jervell and Lange-Nielsen syndrome 11 test
Jervell and Lange-Nielsen syndrome 21 test
Joubert syndrome 103 tests
Juvenile polyposis syndrome4 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10 tests
KBG syndrome4 tests
Kabuki syndrome 13 tests
Kabuki syndrome 23 tests
Kartagener syndrome6 tests
Kleefstra syndrome 11 test
Klein-Waardenberg's syndrome1 test
Kostmann syndrome1 test
Lafora disease1 test
Langer mesomelic dysplasia syndrome3 tests
Legius syndrome1 test
Leri-Weill dyschondrosteosis3 tests
Leukemia, acute lymphoblastic, susceptibility to5 tests
Leukemia, acute lymphoblastic, susceptibility to, 31 test
Leukemia, acute myeloid, susceptibility to4 tests
Li-Fraumeni syndrome 113 tests
Li-Fraumeni syndrome 21 test
Lig4 syndrome4 tests
Lissencephaly, X-linked1 test
Loeys-Dietz syndrome 16 tests
Loeys-Dietz syndrome 26 tests
Loeys-Dietz syndrome 33 tests
Loeys-Dietz syndrome 43 tests
Lung carcinoma1 test
Lymphoma1 test
Lymphoproliferative syndrome 12 tests
Lymphoproliferative syndrome 1, X-linked4 tests
Lymphoproliferative syndrome 23 tests
Lymphoproliferative syndrome 2, X-linked3 tests
Lynch syndrome I7 tests
Lynch syndrome II7 tests
Lysinuric protein intolerance6 tests
Lysosomal acid lipase deficiency2 tests
MYH-associated polyposis4 tests
Macular degeneration, X-linked atrophic1 test
Malignant rhabdoid tumor, somatic1 test
Malignant tumor of prostate1 test
Mandibulofacial dysostosis-microcephaly syndrome3 tests
Marfan syndrome9 tests
Marshall syndrome3 tests
McLeod neuroacanthocytosis syndrome1 test
Melanoma and neural system tumor syndrome1 test
Melanoma-pancreatic cancer syndrome4 tests
Melnick-Fraser syndrome1 test
Meningioma, familial7 tests
Mental retardation and microcephaly with pontine and cerebellar hypoplasia2 tests
Mental retardation, X-linked 11 test
Mental retardation, X-linked 981 test
Mental retardation, autosomal dominant 11 test
Mental retardation, autosomal dominant 131 test
Mental retardation, autosomal dominant 221 test
Mental retardation, autosomal dominant 311 test
Mental retardation, autosomal dominant 341 test
Mental retardation, autosomal dominant 421 test
Mental retardation, autosomal dominant 51 test
Mental retardation, autosomal dominant 71 test
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1 test
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy1 test
Miller syndrome3 tests
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1 test
Mitochondrial diseases3 tests
Monosomy 211 test
Mosaic trisomy 101 test
Mosaic trisomy 141 test
Mosaic trisomy 151 test
Mosaic trisomy 221 test
Mosaic trisomy 71 test
Mosaic trisomy 91 test
Mowat-Wilson syndrome1 test
Muir-Torré syndrome7 tests
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 15 tests
Multiple endocrine neoplasia, type 2a4 tests
Multiple endocrine neoplasia, type 2b3 tests
Multiple endocrine neoplasia, type 42 tests
Multiple fibrofolliculomas4 tests
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1 test
Myasthenic syndrome, congenital, 181 test
Mycobacterial and viral infections, susceptibility to, autosomal recessive3 tests
Myelodysplastic syndrome6 tests
Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to1 test
Myhre syndrome3 tests
Myoclonic epilepsy, familial infantile1 test
Myoclonic-atonic epilepsy1 test
Nager syndrome3 tests
Neonatal ichthyosis-sclerosing cholangitis syndrome2 tests
Neonatal intrahepatic cholestasis caused by citrin deficiency2 tests
Neuroblastoma 34 tests
Neurodegeneration with brain iron accumulation 51 test
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant1 test
Neurofibromatosis, type 13 tests
Neurofibromatosis, type 22 tests
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 31 test
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 61 test
Neuronal ceroid lipofuscinosis 71 test
Neutropenia1 test
Neutropenia, severe congenital 1, autosomal dominant1 test
Niemann-Pick disease type C12 tests
Niemann-Pick disease, type C22 tests
Nijmegen breakage syndrome-like disorder3 tests
Nonsyndromic Deafness2 tests
Noonan syndrome 11 test
Noonan syndrome 31 test
Noonan syndrome 41 test
Noonan syndrome 51 test
Noonan syndrome 61 test
Noonan syndrome 71 test
Noonan syndrome-like disorder with loose anagen hair 11 test
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia2 tests
Oculomaxillofacial dysostosis6 tests
Oligodontia-colorectal cancer syndrome1 test
Opitz GBBB syndrome, type I4 tests
Osteogenesis imperfecta type I3 tests
Osteogenesis imperfecta type III3 tests
Osteogenesis imperfecta with normal sclerae, dominant form3 tests
Osteogenesis imperfecta, recessive perinatal lethal3 tests
Otofaciocervical syndrome 13 tests
Otospondylomegaepiphyseal dysplasia, autosomal dominant4 tests
PTEN hamartoma tumor syndrome4 tests
Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
Pancreatic cancer 21 test
Pancreatic cancer 31 test
Pancreatic lipase deficiency3 tests
Paragangliomas 23 tests
Paragangliomas 54 tests
Parietal foramina with cleidocranial dysplasia3 tests
Partial deletion of the long arm of chromosome 111 test
Partial deletion of the long arm of chromosome 21 test
Partial deletion of the long arm of chromosome 41 test
Partial deletion of the long arm of chromosome 61 test
Partial deletion of the long arm of chromosome 81 test
Partial deletion of the short arm of chromosome 11 test
Partial deletion of the short arm of chromosome 101 test
Partial duplication of the long arm of chromosome 121 test
Partial duplication of the long arm of chromosome 151 test
Partial duplication of the long arm of chromosome 171 test
Partial duplication of the long arm of chromosome 191 test
Partial duplication of the long arm of chromosome 21 test
Partial duplication of the long arm of chromosome 31 test
Partial duplication of the long arm of chromosome 41 test
Partial duplication of the long arm of chromosome 71 test
Partial duplication of the long arm of chromosome X1 test
Partial duplication of the short arm of chromosome 161 test
Partial duplication of the short arm of chromosome 21 test
Partial duplication of the short arm of chromosome 61 test
Partial duplication of the short arm of chromosome 71 test
Partial monosomy of the long arm of chromosome 101 test
Partial monosomy of the short arm of chromosome 201 test
Partial trisomy of the long arm of chromosome 161 test
Partial trisomy of the long arm of chromosome 181 test
Partial trisomy of the long arm of chromosome 51 test
Paternal uniparental disomy of chromosome 141 test
Pendred syndrome1 test
Perlman syndrome1 test
Perrault syndrome 11 test
Perrault syndrome 21 test
Perrault syndrome 31 test
Perrault syndrome 41 test
Persistent fetal circulation syndrome9 tests
Peutz-Jeghers syndrome6 tests
Pheochromocytoma4 tests
Phosphate transport defect6 tests
Phosphoenolpyruvate carboxykinase deficiency, cytosolic3 tests
Phosphoglycerate kinase 1 deficiency1 test
Pitt-Hopkins syndrome1 test
Pneumothorax, primary spontaneous3 tests
Polyarteritis nodosa, childhoood-onset3 tests
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract1 test
Potocki-Lupski syndrome1 test
Prader-Willi syndrome1 test
Prader-Willi-like syndrome associated with chromosome 61 test
Primary ciliary dyskinesia 236 tests
Primary ciliary dyskinesia 246 tests
Primary ciliary dyskinesia 256 tests
Primary pulmonary hypertension 26 tests
Primary pulmonary hypertension 36 tests
Primary pulmonary hypertension 46 tests
Progressive bulbar palsy of childhood1 test
Progressive familial intrahepatic cholestasis 23 tests
Progressive familial intrahepatic cholestasis 32 tests
Progressive familial intrahepatic cholestasis 42 tests
Progressive myoclonus epilepsy with ataxia1 test
Proprotein convertase 1/3 deficiency3 tests
Prothrombin deficiency, congenital1 test
Pulmonary Hypertension, Primary, 16 tests
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 13 tests
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 23 tests
Pulmonary venoocclusive disease 2, autosomal recessive6 tests
Purine-nucleoside phosphorylase deficiency3 tests
Pyridoxal phosphate-responsive seizures1 test
Pyridoxine-dependent epilepsy1 test
Pyruvate kinase deficiency of red cells1 test
Renal cell carcinoma, papillary, 11 test
Renal tubular acidosis with progressive nerve deafness1 test
Retinoblastoma2 tests
Rett syndrome3 tests
Rett syndrome, congenital variant1 test
Revesz syndrome1 test
Rhabdoid tumor predisposition syndrome 14 tests
Rhabdoid tumor predisposition syndrome 22 tests
Rhabdomyosarcoma, embryonal, 21 test
Ring chromosome 11 test
Ring chromosome 101 test
Ring chromosome 121 test
Ring chromosome 131 test
Ring chromosome 141 test
Ring chromosome 151 test
Ring chromosome 181 test
Ring chromosome 191 test
Ring chromosome 20 syndrome1 test
Ring chromosome 211 test
Ring chromosome 221 test
Ring chromosome 61 test
Ring chromosome 71 test
Ring chromosome 91 test
Roberts-SC phocomelia syndrome1 test
Rubinstein-Taybi syndrome 13 tests
Rubinstein-Taybi syndrome 23 tests
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion1 test
Russell-Silver syndrome1 test
SLC35A2-CDG1 test
Saethre-Chotzen syndrome1 test
Salt and pepper developmental regression syndrome1 test
Schwannomatosis 12 tests
Seizures, benign familial infantile, 21 test
Seizures, benign familial infantile, 31 test
Seizures, benign familial infantile, 51 test
Severe combined immunodeficiency due to ADA deficiency3 tests
Severe combined immunodeficiency due to DCLRE1C deficiency3 tests
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation4 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive3 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative3 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive3 tests
Severe congenital neutropenia 4, autosomal recessive1 test
Severe myoclonic epilepsy in infancy1 test
Short stature, idiopathic, X-linked3 tests
Shprintzen-Goldberg syndrome9 tests
Shwachman-Diamond syndrome 11 test
Sitosterolemia1 test
Solid tumor5 tests
Spherocytosis1 test
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1 test
Squamous cell carcinoma of the head and neck1 test
Stickler syndrome type 14 tests
Stickler syndrome type 24 tests
Stickler syndrome, type 44 tests
Stickler syndrome, type 54 tests
Stomatin-deficient cryohydrocytosis with neurologic defects1 test
Stomatocytosis1 test
Succinate-semialdehyde dehydrogenase deficiency1 test
Sucrase-isomaltase deficiency3 tests
Surfactant metabolism dysfunction, pulmonary, 16 tests
Surfactant metabolism dysfunction, pulmonary, 36 tests
Surfactant metabolism dysfunction, pulmonary, 46 tests
Surfactant metabolism dysfunction, pulmonary, 56 tests
T-cell acute lymphoblastic leukemia1 test
T-cell immunodeficiency, congenital alopecia, and nail dystrophy3 tests
Telangiectasia, hereditary hemorrhagic, type 26 tests
Telangiectasia, hereditary hemorrhagic, type 56 tests
Temple syndrome1 test
Terminal osseous dysplasia3 tests
Tetrasomy 18p1 test
Tetrasomy 9p1 test
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)1 test
Thrombocytopenia1 test
Thrombophilia due to activated protein C resistance1 test
Thyroid cancer, nonmedullary, 21 test
Townes-Brocks syndrome 13 tests
Treacher Collins syndrome 13 tests
Treacher Collins syndrome 23 tests
Treacher Collins syndrome 33 tests
Trichohepatoenteric syndrome 13 tests
Trichohepatoenteric syndrome 23 tests
Trisomy 10p1 test
Trisomy 12p1 test
Trisomy 17p1 test
Trisomy 20p1 test
Trisomy 8p1 test
Trisomy 8q1 test
Tuberous sclerosis 13 tests
Tuberous sclerosis 23 tests
Tumor susceptibility linked to germline BAP1 mutations3 tests
Turcot syndrome7 tests
Type 2 diabetes mellitus3 tests
Uniparental disomy of 111 test
Uniparental disomy of 71 test
Uniparental disomy of chromosome 61 test
Unverricht-Lundborg syndrome1 test
Urinary bladder cancer1 test
Usher Syndrome, Type III1 test
Usher syndrome type 1D1 test
Usher syndrome type 1F1 test
Usher syndrome, type 1C1 test
Usher syndrome, type 1G1 test
Usher syndrome, type 1J1 test
Usher syndrome, type 2A1 test
Usher syndrome, type 2C1 test
Usher syndrome, type 2D1 test
Usher syndrome, type 3B1 test
Von Hippel-Lindau syndrome10 tests
Waardenburg syndrome type 14 tests
Waardenburg syndrome type 2A4 tests
Waardenburg syndrome type 2D4 tests
Waardenburg syndrome type 2E4 tests
Waardenburg syndrome type 4A4 tests
Waardenburg syndrome type 4B4 tests
Waardenburg syndrome type 4C4 tests
Warsaw breakage syndrome1 test
Warts, hypogammaglobulinemia, infections, and myelokathexis3 tests
Wilms tumor 12 tests
Wolfram syndrome 21 test
X chromosome, duplication Xq13 1 q21 11 test
X chromosome, monosomy Xq281 test
X chromosome, trisomy Xp31 test
X chromosome, trisomy Xpter Xq131 test
X chromosome, trisomy Xq251 test
X-linked agammaglobulinemia with growth hormone deficiency3 tests
X-linked mental retardation with marfanoid habitus syndrome3 tests
X-linked severe combined immunodeficiency3 tests
X-linked thrombocytopenia with normal platelets4 tests
Xeroderma pigmentosum, complementation group b1 test
Xeroderma pigmentosum, group D1 test
Xeroderma pigmentosum, group E1 test
Xeroderma pigmentosum, group G1 test
Y chromosome deletions1 test
Y chromosome-related disorders1 test
alpha Thalassemia2 tests
beta Thalassemia2 tests
Support Center