Mayo Clinic Genetic Testing Laboratories (Mayo CLinic)

General information

Mayo Clinic Genetic Testing Laboratories
Mayo CLinic
3050 Superior Drive NW
Rochester
Minnesota
United States - 55901

Organization ID: 500068

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 3475

Gene

GeneSubmissionsLast Updated
AARS11Feb 28, 2018
AARS29May 23, 2018
AASS7May 23, 2018
ABAT13May 23, 2018
ABCB79Oct 15, 2018
ABCC81Feb 28, 2018
ABCC91Feb 28, 2018
ABCD114Jul 18, 2018
ABCD22May 23, 2018
ABCD33May 23, 2018
ABHD14A-ACY11Feb 28, 2018
ACACA12May 23, 2018
ACAD99May 23, 2018
ACADM1Feb 28, 2018
ACADVL1Feb 28, 2018
ACO26Jul 18, 2018
ACOX110May 23, 2018
ACOX21Jul 18, 2018
ACOX311May 23, 2018
ACP25May 23, 2018
ACSF32Feb 28, 2018
ACY11Feb 28, 2018
ACYP11May 23, 2018
ADAR1Feb 28, 2018
ADSL1Feb 28, 2018
AFG3L210May 23, 2018
AGA9May 23, 2018
AGK2May 23, 2018
AGL32May 23, 2018
AGO11Feb 28, 2018
AGPS4May 23, 2018
AGRN1Feb 28, 2018
AHDC11Feb 28, 2018
AHNAK1Feb 28, 2018
AHNAK22Jul 18, 2018
AIFM15May 23, 2018
ALDH3A211May 23, 2018
ALDOA4May 23, 2018
ALG121Feb 28, 2018
ALG82Feb 28, 2018
AMACR11May 23, 2018
AMPD19May 23, 2018
ANK31Feb 28, 2018
ANKRD112Feb 28, 2018
AP4S11Feb 28, 2018
APC204Mar 9, 2018
APTX9May 23, 2018
ARHGAP351Feb 28, 2018
ARSA12May 23, 2018
ARSB15May 23, 2018
ARSH15May 23, 2018
ARSL1Feb 28, 2018
ASAH113May 23, 2018
ASPM2Feb 28, 2018
ASTN21Feb 28, 2018
ASXL31Feb 28, 2018
ATM1Jul 18, 2018
ATP13A225May 23, 2018
ATP2C21Feb 28, 2018
ATP5F1A7May 23, 2018
ATP5MC31May 23, 2018
ATP7B2Feb 28, 2018
ATP8A21Feb 28, 2018
ATPAF23May 23, 2018
AUH9May 23, 2018
AUTS21Feb 28, 2018
AXIN226Mar 9, 2018
B3GAT31Feb 28, 2018
B3GLCT1Feb 28, 2018
BBS11Feb 28, 2018
BCS1L6May 23, 2018
BIN11Feb 28, 2018
BLM2Jul 18, 2018
BMPR1A12Mar 9, 2018
BMPR21Feb 28, 2018
BOLA31May 23, 2018
BRCA153Mar 9, 2018
BRCA299Mar 9, 2018
BTK1Feb 28, 2018
C11orf651Jul 18, 2018
C12orf571Feb 28, 2018
C1QTNF3-AMACR11May 23, 2018
C51Feb 28, 2018
CA5A8May 23, 2018
CACNA1A3Jul 18, 2018
CACNA1H2Feb 28, 2018
CACNB42Jul 18, 2018
CADPS1Feb 28, 2018
CARD111Jul 18, 2018
CASQ11Feb 28, 2018
CAT4May 23, 2018
CATIP-AS24May 23, 2018
CBL1Feb 28, 2018
CCDC1032May 23, 2018
CCDC401May 23, 2018
CCNO1Feb 28, 2018
CDH128Oct 31, 2017
CDH232May 23, 2018
CDHR11Feb 28, 2018
CDK5RAP23Feb 28, 2018
CEP2901Feb 28, 2018
CFTR1Feb 28, 2018
CHAT14May 23, 2018
CHD21Feb 28, 2018
CHD31Feb 28, 2018
CHEK24Oct 31, 2017
CHIT116May 23, 2018
CHKB1Feb 28, 2018
CHKB-CPT1B1Feb 28, 2018
CHPT12May 23, 2018
CHRNG1Feb 28, 2018
CHST61Feb 28, 2018
CLCN12Feb 28, 2018
CLN36May 23, 2018
CLN511May 23, 2018
CLN67May 23, 2018
CLN81May 23, 2018
CLPP5May 23, 2018
CNTN21Feb 28, 2018
COA52May 23, 2018
COA62May 23, 2018
COA86May 23, 2018
COL11A21Feb 28, 2018
COL27A11Feb 28, 2018
COL2A11Feb 28, 2018
COL5A11Jul 16, 2018
COL5A21Feb 28, 2018
COL6A11Feb 28, 2018
COL6A22May 23, 2018
COL9A21Feb 28, 2018
COLQ2Feb 28, 2018
COQ27Aug 28, 2018
COQ44May 23, 2018
COQ65May 23, 2018
COQ8A12May 23, 2018
COQ8B12May 23, 2018
COQ92May 23, 2018
COX1011May 23, 2018
COX141May 23, 2018
COX151May 23, 2018
COX203May 23, 2018
COX4I21May 23, 2018
COX6B11May 23, 2018
COX7B2May 23, 2018
CSNK2B2Jul 18, 2018
CTC12Jul 18, 2018
CTCF1Jul 18, 2018
CTNNB11Jul 18, 2018
CTNS11May 23, 2018
CTSA13May 23, 2018
CTSD12May 23, 2018
CTSF11May 23, 2018
CTSK1May 23, 2018
CYC15May 23, 2018
D2HGDH12May 23, 2018
DARS224May 23, 2018
DBNL5May 23, 2018
DCX1Feb 28, 2018
DDX3X1Feb 28, 2018
DEPDC51Feb 28, 2018
DGAT11Feb 28, 2018
DGUOK7May 23, 2018
DLAT12May 23, 2018
DLD10May 23, 2018
DMAC2L3May 23, 2018
DMD1Feb 28, 2018
DNA211May 23, 2018
DNAAF11Feb 28, 2018
DNAAF61Jul 18, 2018
DNAH111Feb 28, 2018
DNAH54Feb 28, 2018
DNAI21Jul 16, 2018
DNAJC192May 23, 2018
DNAJC55May 23, 2018
DNAJC9-AS12May 23, 2018
DNASE15May 23, 2018
DNM1L9May 23, 2018
DNM21Jul 18, 2018
DNMT11Feb 28, 2018
DOCK31Feb 28, 2018
DOK72Feb 28, 2018
DPAGT11Feb 28, 2018
DRC11Feb 28, 2018
DUOX21Feb 28, 2018
DUOXA21Feb 28, 2018
DYNC1H11Feb 28, 2018
DYSF1Feb 28, 2018
EARS210May 23, 2018
EBF31Feb 28, 2018
ECH17May 23, 2018
EDNRB1Feb 28, 2018
EDNRB-AS11Feb 28, 2018
ELAC211May 23, 2018
ELN1Feb 28, 2018
ENO38May 23, 2018
ENPP12Feb 28, 2018
ENTPD11Feb 28, 2018
ENTPD1-AS11Feb 28, 2018
ENTPD54May 23, 2018
EPM2A9May 23, 2018
ERCC81May 23, 2018
ETFA2May 23, 2018
ETFB2May 23, 2018
ETFDH7May 23, 2018
ETHE15May 23, 2018
EVC1Feb 28, 2018
EXT22Feb 28, 2018
FA2H3Feb 28, 2018
FANCA1Feb 28, 2018
FANCI3May 23, 2018
FARS24May 23, 2018
FASTKD25May 23, 2018
FBXL35May 23, 2018
FBXL410May 23, 2018
FBXO111Oct 31, 2017
FBXO30-DT4May 23, 2018
FBXO412Feb 28, 2018
FBXW71Feb 28, 2018
FGB1Feb 28, 2018
FGD11Feb 28, 2018
FGG1Feb 28, 2018
FH4May 23, 2018
FKRP1Feb 28, 2018
FLG2Feb 28, 2018
FLNA1Feb 28, 2018
FOXC21Feb 28, 2018
FOXRED14May 23, 2018
FRAS12Feb 28, 2018
FUCA18May 23, 2018
FXN3May 23, 2018
G6PC14May 23, 2018
GAA46May 23, 2018
GABRB31Feb 28, 2018
GALC24May 23, 2018
GALNS28May 23, 2018
GAMT2May 23, 2018
GARS112May 23, 2018
GATAD11Feb 28, 2018
GBA11May 23, 2018
GBE116May 23, 2018
GCDH3May 23, 2018
GEMIN52Jul 18, 2018
GFAP15May 23, 2018
GFER6May 23, 2018
GFM17May 23, 2018
GHR2Feb 28, 2018
GJC21Feb 28, 2018
GLA7May 23, 2018
GLB114Jul 18, 2018
GM2A7May 23, 2018
GNPAT5May 23, 2018
GNPTAB23May 23, 2018
GNPTG6May 23, 2018
GNS6May 23, 2018
GPR151Feb 28, 2018
GRIN2A1Feb 28, 2018
GRIN2B1Jul 18, 2018
GRN10May 23, 2018
GUSB13May 23, 2018
GYG16May 23, 2018
GYS13May 23, 2018
GYS213May 23, 2018
HADHB1Feb 28, 2018
HARS11Feb 28, 2018
HARS22May 23, 2018
HCFC11Feb 28, 2018
HDAC61Feb 28, 2018
HDAC91Feb 28, 2018
HERC12Feb 28, 2018
HERC22Jul 18, 2018
HEXA7Jul 18, 2018
HEXB4May 23, 2018
HGSNAT8May 23, 2018
HIBCH2May 23, 2018
HIC21Jul 18, 2018
HLCS1Feb 28, 2018
HNRNPCL11Feb 28, 2018
HNRNPU1May 23, 2018
HNRNPU-AS12May 23, 2018
HPSE21Feb 28, 2018
HSD17B418May 23, 2018
HSPG22Jul 18, 2018
HUWE11Feb 28, 2018
HYAL13May 23, 2018
HYDIN1Feb 28, 2018
IARS26May 23, 2018
IBA577May 23, 2018
IDH24May 23, 2018
IDH2-DT1May 23, 2018
IDS10May 23, 2018
IDUA27May 23, 2018
IFIH11Feb 28, 2018
IGF1R1Feb 28, 2018
IGLL11Feb 28, 2018
IKBKB2Feb 28, 2018
INSL61Jul 16, 2018
ISCU7May 23, 2018
ITGA71Feb 28, 2018
JAK21Jul 16, 2018
KANSL11Feb 28, 2018
KARS11Feb 28, 2018
KCNJ101Feb 28, 2018
KCNK31Feb 28, 2018
KCNQ22Feb 28, 2018
KCNQ31Feb 28, 2018
KCTD77May 23, 2018
KIAA05862Feb 28, 2018
KIF111Feb 28, 2018
KIF221Feb 28, 2018
KIT1Feb 28, 2018
KLLN3Oct 31, 2017
KMT2B1Jul 18, 2018
KMT2D1Feb 28, 2018
KPTN1Feb 28, 2018
L1CAM1Feb 28, 2018
L2HGDH7May 23, 2018
LAMA23Feb 28, 2018
LAMC31Feb 28, 2018
LAMP26May 23, 2018
LARS214May 23, 2018
LARS2-AS15May 23, 2018
LDHA14May 23, 2018
LGI11Feb 28, 2018
LIAS2May 23, 2018
LIPA6May 23, 2018
LMNA1Jul 18, 2018
LOC1060501027May 23, 2018
LOC1066279819May 23, 2018
LOC1108062631Feb 28, 2018
LOC1116744721Feb 28, 2018
LOC1125298951May 23, 2018
LOC1126947564May 23, 2018
LOC1129975404May 23, 2018
LOC1137882972May 23, 2018
LONP11Feb 28, 2018
LOXHD11Feb 28, 2018
LRBA3Feb 28, 2018
LRPPRC11May 23, 2018
LYRM42May 23, 2018
LYRM71May 23, 2018
MALT11Feb 28, 2018
MAN1B11Feb 28, 2018
MAN2B122May 23, 2018
MANBA17May 23, 2018
MARK21Feb 28, 2018
MARS22May 23, 2018
MASP12Feb 28, 2018
MASP21Feb 28, 2018
MBD51Feb 28, 2018
MCOLN110May 23, 2018
MCPH11Feb 28, 2018
MECP23Jul 18, 2018
MED231Feb 28, 2018
MEFV1Feb 28, 2018
MFSD85May 23, 2018
MGME13May 23, 2018
MICU11May 23, 2018
MIF4GD-DT2May 23, 2018
MILR15May 23, 2018
MLC11Feb 28, 2018
MLH1110Mar 9, 2018
MLH327Mar 9, 2018
MPC13May 23, 2018
MPV171Feb 28, 2018
MRPL33May 23, 2018
MRPL443May 23, 2018
MRPS162May 23, 2018
MRPS222May 23, 2018
MSH2104Mar 9, 2018
MSH6144Mar 9, 2018
MTFMT12May 23, 2018
MTO17May 23, 2018
MTPAP4May 23, 2018
MTRFR5May 23, 2018
MUTYH10Oct 31, 2017
MYH72Feb 28, 2018
MYO18B1Feb 28, 2018
MYO7A2Feb 28, 2018
NAGA5May 23, 2018
NAGLU8May 23, 2018
NCAPH26May 23, 2018
NDST12Feb 28, 2018
NDUFA11May 23, 2018
NDUFA107May 23, 2018
NDUFA121May 23, 2018
NDUFA21May 23, 2018
NDUFA94May 23, 2018
NDUFAF18May 23, 2018
NDUFAF22May 23, 2018
NDUFAF44May 23, 2018
NDUFAF56May 23, 2018
NDUFAF68May 23, 2018
NDUFB31May 23, 2018
NDUFB93May 23, 2018
NDUFS112May 23, 2018
NDUFS23May 23, 2018
NDUFS31May 23, 2018
NDUFS44May 23, 2018
NDUFS61May 23, 2018
NDUFS75May 23, 2018
NDUFS81May 23, 2018
NDUFV15May 23, 2018
NDUFV22May 23, 2018
NEB6Feb 28, 2018
NEU15May 23, 2018
NFU14May 23, 2018
NHLRC14May 23, 2018
NKX2-51Feb 28, 2018
NLRC42Feb 28, 2018
NLRP121Feb 28, 2018
NOTCH11Feb 28, 2018
NPC135May 23, 2018
NPC22May 23, 2018
NR1H31May 23, 2018
NR2F12Feb 28, 2018
NR2F21Feb 28, 2018
NRL16May 23, 2018
NRXN12Feb 28, 2018
NSD21Feb 28, 2018
NUBPL6Jul 18, 2018
OGDH10May 23, 2018
OPA114May 23, 2018
OPA1-AS11May 23, 2018
OPA31May 23, 2018
ORC11Feb 28, 2018
OXCT15May 23, 2018
OXCT1-AS11May 23, 2018
P3H21Feb 28, 2018
PAH2Feb 28, 2018
PANK216May 23, 2018
PC7May 23, 2018
PCK216May 23, 2018
PDHA12May 23, 2018
PDHB5May 23, 2018
PDHX17May 23, 2018
PDP11May 23, 2018
PDSS14May 23, 2018
PDSS23May 23, 2018
PDZD96May 23, 2018
PEX112May 23, 2018
PEX109May 23, 2018
PEX11B1May 23, 2018
PEX122May 23, 2018
PEX131May 23, 2018
PEX148May 23, 2018
PEX165May 23, 2018
PEX192May 23, 2018
PEX23May 23, 2018
PEX263May 23, 2018
PEX35May 23, 2018
PEX59May 23, 2018
PEX617May 23, 2018
PEX73May 23, 2018
PFKM11May 23, 2018
PGAM25May 23, 2018
PGAP31Feb 28, 2018
PGK13May 23, 2018
PGM115May 23, 2018
PHKA15May 23, 2018
PHKA1-AS11May 23, 2018
PHKA29May 23, 2018
PHKB17May 23, 2018
PHKG21May 23, 2018
PHLPP12Feb 28, 2018
PHYH5May 23, 2018
PIEZO23Feb 28, 2018
PIGN1Jul 18, 2018
PIGT1Feb 28, 2018
PIGV2Feb 28, 2018
PIH1D22May 23, 2018
PITPNM31Feb 28, 2018
PKHD11Feb 28, 2018
PLA2G62Feb 28, 2018
PLCH21May 23, 2018
PLEC1Feb 28, 2018
PLP11Jul 18, 2018
PMM22Jul 18, 2018
PMS233Oct 31, 2017
PNKD4May 23, 2018
PNKP1Feb 28, 2018
PNPLA62May 23, 2018
PNPT17May 23, 2018
POLG39Feb 25, 2020
POLG25May 23, 2018
POLR3H2Jul 18, 2018
PPT18May 23, 2018
PRKAG27May 23, 2018
PRODH2Feb 28, 2018
PRUNE22Feb 28, 2018
PRX1Feb 28, 2018
PSAP8May 23, 2018
PTCH11Feb 28, 2018
PTEN40Oct 31, 2017
PTX31Feb 28, 2018
PUS12May 23, 2018
PYGL19May 23, 2018
PYGM15May 23, 2018
RAB33A5May 23, 2018
RAB9B1Jul 18, 2018
RAPSN1Feb 28, 2018
RARS29May 23, 2018
RBM201Feb 28, 2018
RELN2Feb 28, 2018
RFT11Feb 28, 2018
RIF11Feb 28, 2018
RINT12Feb 28, 2018
RMND13May 23, 2018
ROR21Feb 28, 2018
RPL36A-HNRNPH27May 23, 2018
RPS6KA31Feb 28, 2018
RRM2B3May 23, 2018
RYR11Feb 28, 2018
RYR21Feb 28, 2018
RYR33Feb 28, 2018
SACS34Jul 18, 2018
SARS212May 23, 2018
SCN2A2Jul 18, 2018
SCN3A2Feb 28, 2018
SCN8A1Feb 28, 2018
SCO11May 23, 2018
SCO214May 23, 2018
SCP29May 23, 2018
SDHAF11May 23, 2018
SELENON1Jul 18, 2018
SERAC14May 23, 2018
SFXN44May 23, 2018
SGSH19May 23, 2018
SH3PXD2B2Feb 28, 2018
SLC17A56May 23, 2018
SLC19A38May 23, 2018
SLC22A51Feb 28, 2018
SLC25A13May 23, 2018
SLC25A1211May 23, 2018
SLC25A151Feb 28, 2018
SLC25A194May 23, 2018
SLC25A32May 23, 2018
SLC25A42Jul 18, 2018
SLC26A16May 23, 2018
SLC26A21Feb 28, 2018
SLC2A11Feb 28, 2018
SLC2A25May 23, 2018
SLC34A31Jul 18, 2018
SLC35A11May 23, 2018
SLC45A21May 23, 2018
SLC52A22May 23, 2018
SLC6A131Feb 28, 2018
SLC6A31Feb 28, 2018
SLC9A31Feb 28, 2018
SLC9A3-AS11Feb 28, 2018
SMAD417Oct 31, 2017
SMC1A1Feb 28, 2018
SMPD120May 23, 2018
SON1Feb 28, 2018
SPG71Jul 18, 2018
SPTA11Feb 28, 2018
SPTBN21Feb 28, 2018
SRCAP1Jul 18, 2018
STK1116Mar 9, 2018
SUCLA26May 23, 2018
SUCLG15May 23, 2018
SUGCT13May 23, 2018
SUMF110May 23, 2018
SURF16May 23, 2018
SYNE11Feb 28, 2018
SYNGAP11Feb 28, 2018
TACO12May 23, 2018
TARS29May 23, 2018
TAZ2May 23, 2018
TBC1D242Feb 28, 2018
TBX41Feb 28, 2018
TCAP1Feb 28, 2018
TCF41Jul 18, 2018
TERT1Feb 28, 2018
TGFBR21Feb 28, 2018
THAP11Feb 28, 2018
THG1L2Feb 28, 2018
TIMM4414May 23, 2018
TIMM8A2May 23, 2018
TK23May 23, 2018
TMCO61May 23, 2018
TMEM126A5May 23, 2018
TMEM706May 23, 2018
TMPPE2May 23, 2018
TNFRSF11A1Feb 28, 2018
TOE11Oct 31, 2017
TP5347Mar 9, 2018
TPK11May 23, 2018
TPP119May 23, 2018
TRAP118May 23, 2018
TRAPPC92Feb 28, 2018
TRIM321Feb 28, 2018
TRIM375May 23, 2018
TRIOBP1Feb 28, 2018
TRMU9May 23, 2018
TSC21Feb 28, 2018
TSFM4May 23, 2018
TTC193May 23, 2018
TTC7A1Feb 28, 2018
TTN5Feb 28, 2018
TTN-AS11Feb 28, 2018
TUBA1A1Jul 18, 2018
TUBB62May 23, 2018
TUFM1May 23, 2018
TUSC31Feb 28, 2018
TWNK4May 23, 2018
TYMP16May 23, 2018
UPF3B1Feb 28, 2018
UQCRB1May 23, 2018
UQCRC26May 23, 2018
UQCRQ1May 23, 2018
USH1G1Feb 28, 2018
USH2A1Jul 18, 2018
USP9X3Jul 18, 2018
VARS228May 23, 2018
VAV11Feb 28, 2018
VEPH11Feb 28, 2018
VPS13B1Feb 28, 2018
VPS13C1Feb 28, 2018
VWF1Feb 28, 2018
WDR811Feb 28, 2018
XPNPEP32May 23, 2018
YARS28May 23, 2018
ZBTB181Feb 28, 2018
ZC4H21Feb 28, 2018
ZDHHC241Feb 28, 2018
ZFYVE261Nov 19, 2019
ZNF1481Feb 28, 2018

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 12Feb 28, 2018
3MC syndrome 11Feb 28, 2018
4p partial monosomy syndrome1Feb 28, 2018
ALG12-congenital disorder of glycosylation1Feb 28, 2018
ALG8-CDG2Feb 28, 2018
Aarskog syndrome1Feb 28, 2018
Achondrogenesis type II1Feb 28, 2018
Adams-Oliver syndrome 51Feb 28, 2018
Adenylosuccinate lyase deficiency1Feb 28, 2018
Adrenoleukodystrophy3Jul 18, 2018
Adult polyglucosan body disease2Feb 28, 2018
Afibrinogenemia, congenital2Feb 28, 2018
Agammaglobulinemia 2, autosomal recessive1Feb 28, 2018
Aicardi-Goutieres syndrome 61Feb 28, 2018
Aicardi-Goutieres syndrome 71Feb 28, 2018
Alpha-N-acetylgalactosaminidase deficiency type 11Feb 28, 2018
Alpha-N-acetylgalactosaminidase deficiency type 21Feb 28, 2018
Aminoacylase 1 deficiency1Feb 28, 2018
Arrhythmogenic right ventricular dysplasia, familial, 21Feb 28, 2018
Arterial calcification, generalized, of infancy, 12Feb 28, 2018
Arthrogryposis, distal, with impaired proprioception and touch3Feb 28, 2018
Aspartylglucosaminuria1Feb 28, 2018
Ataxia-hypogonadism-choroidal dystrophy syndrome1Feb 28, 2018
Ataxia-oculomotor apraxia 41Feb 28, 2018
Ataxia-telangiectasia syndrome1Jul 18, 2018
Atrial septal defect 7 with or without atrioventricular conduction defects1Feb 28, 2018
Autoinflammation with infantile enterocolitis2Feb 28, 2018
Autosomal recessive hypophosphatemic bone disease1Jul 18, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2B1Feb 28, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2G1Feb 28, 2018
Autosomal recessive multiple pterygium syndrome1Feb 28, 2018
Autosomal recessive polycystic kidney disease1Feb 28, 2018
Avascular necrosis of the head of femur1Feb 28, 2018
B-cell expansion with NFKB and T-cell anergy1Jul 18, 2018
Bainbridge-Ropers syndrome1Feb 28, 2018
Bardet-Biedl syndrome 11Feb 28, 2018
Bardet-Biedl syndrome 111Feb 28, 2018
Benign familial neonatal seizures 12Feb 28, 2018
Benign familial neonatal seizures 21Feb 28, 2018
Bethlem myopathy 12Feb 28, 2018
Bile acid synthesis defect, congenital, 61Jul 18, 2018
Biotin-responsive basal ganglia disease1Feb 28, 2018
Bloom syndrome2Jul 18, 2018
Bosch-Boonstra-Schaaf optic atrophy syndrome2Feb 28, 2018
CODAS syndrome1Feb 28, 2018
Catecholaminergic polymorphic ventricular tachycardia type 11Feb 28, 2018
Central core myopathy1Feb 28, 2018
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant1Feb 28, 2018
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 21Feb 28, 2018
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 41Feb 28, 2018
Cerebroretinal microangiopathy with calcifications and cysts 12Jul 18, 2018
Charcot-Marie-Tooth disease type 2B11Jul 18, 2018
Charcot-Marie-Tooth disease type 2D1Feb 28, 2018
Charcot-Marie-Tooth disease, axonal, type 2O1Feb 28, 2018
Charcot-Marie-Tooth disease, axonal, type 2w1Feb 28, 2018
Charcot-Marie-Tooth disease, demyelinating, type 4F1Feb 28, 2018
Charcot-Marie-Tooth disease, dominant intermediate B1Jul 18, 2018
Charlevoix-Saguenay spastic ataxia1Jul 18, 2018
Ciliary dyskinesia, primary, 131Feb 28, 2018
Ciliary dyskinesia, primary, 171Feb 28, 2018
Ciliary dyskinesia, primary, 211Feb 28, 2018
Ciliary dyskinesia, primary, 291Feb 28, 2018
Ciliary dyskinesia, primary, 34Feb 28, 2018
Ciliary dyskinesia, primary, 36, X-linked1Jul 18, 2018
Ciliary dyskinesia, primary, 51Feb 28, 2018
Ciliary dyskinesia, primary, 71Feb 28, 2018
Ciliary dyskinesia, primary, 91Jul 16, 2018
Coenzyme Q10 deficiency, primary, 41Feb 28, 2018
Coffin-Lowry syndrome1Feb 28, 2018
Cohen syndrome1Feb 28, 2018
Combined malonic and methylmalonic aciduria2Feb 28, 2018
Combined oxidative phosphorylation deficiency 102Feb 28, 2018
Combined oxidative phosphorylation deficiency 151Feb 28, 2018
Combined oxidative phosphorylation deficiency 191Feb 28, 2018
Combined oxidative phosphorylation deficiency 71Feb 28, 2018
Common variable immunodeficiency 8, with autoimmunity3Feb 28, 2018
Complement component 5 deficiency1Feb 28, 2018
Cone-rod dystrophy 151Feb 28, 2018
Cone-rod dystrophy 51Feb 28, 2018
Congenital disorder of glycosylation type 1N1Feb 28, 2018
Congenital disorder of glycosylation, type Ia2Jul 18, 2018
Congenital heart defects, multiple types, 41Feb 28, 2018
Congenital muscular dystrophy, LMNA-related1Jul 18, 2018
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B51Feb 28, 2018
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A51Feb 28, 2018
Congenital muscular hypertrophy-cerebral syndrome1Feb 28, 2018
Congenital myasthenic syndrome 131Feb 28, 2018
Congenital myopathy with fiber type disproportion1Jul 18, 2018
Congenital myotonia, autosomal recessive form2Feb 28, 2018
Corneal dystrophy, Fuchs endothelial, 31Jul 18, 2018
Cortical malformations, occipital1Feb 28, 2018
Coxa plana1Feb 28, 2018
Curry-Hall syndrome1Feb 28, 2018
Cutis laxa, autosomal dominant 11Feb 28, 2018
Cystic fibrosis1Feb 28, 2018
Czech dysplasia, metatarsal type1Feb 28, 2018
DPAGT1-CDG1Feb 28, 2018
Deafness enamel hypoplasia nail defects1Feb 28, 2018
Deafness, autosomal dominant 112Feb 28, 2018
Deafness, autosomal recessive 21Feb 28, 2018
Deafness, autosomal recessive 281Feb 28, 2018
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct1Feb 28, 2018
Deafness, autosomal recessive 771Feb 28, 2018
Deficiency of alpha-mannosidase3Feb 28, 2018
Dejerine-Sottas disease1Feb 28, 2018
Dermatitis, atopic, 22Feb 28, 2018
Diarrhea 71Feb 28, 2018
Diarrhea 8, secretory sodium, congenital1Feb 28, 2018
Dilated cardiomyopathy 1A1Jul 18, 2018
Dilated cardiomyopathy 1DD1Feb 28, 2018
Dilated cardiomyopathy 1G1Feb 28, 2018
Dilated cardiomyopathy 1O1Feb 28, 2018
Dilated cardiomyopathy 1S2Feb 28, 2018
Dilated cardiomyopathy 3B1Feb 28, 2018
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1Jul 18, 2018
Distal hereditary motor neuronopathy type 51Feb 28, 2018
Distichiasis-lymphedema syndrome1Feb 28, 2018
Dyskeratosis congenita, autosomal dominant, 21Feb 28, 2018
Dystonia 28, childhood-onset1Jul 18, 2018
EAST syndrome1Feb 28, 2018
Early infantile epileptic encephalopathy 101Feb 28, 2018
Early infantile epileptic encephalopathy 112Jul 18, 2018
Early infantile epileptic encephalopathy 131Feb 28, 2018
Early infantile epileptic encephalopathy 162Feb 28, 2018
Early infantile epileptic encephalopathy 72Feb 28, 2018
Ehlers-Danlos syndrome, classic type2Jul 16, 2018
Eichsfeld type congenital muscular dystrophy1Jul 18, 2018
Ellis-van Creveld syndrome1Feb 28, 2018
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1Jul 18, 2018
Emery-Dreifuss muscular dystrophy 3, autosomal recessive1Jul 18, 2018
Endplate acetylcholinesterase deficiency2Feb 28, 2018
Epilepsy, childhood absence 51Feb 28, 2018
Epilepsy, childhood absence 62Feb 28, 2018
Epilepsy, familial adult myoclonic, 51Feb 28, 2018
Epilepsy, familial focal, with variable foci 11Feb 28, 2018
Epilepsy, familial temporal lobe, 72Feb 28, 2018
Epilepsy, focal, with speech disorder and with or without mental retardation1Feb 28, 2018
Epilepsy, idiopathic generalized 92Jul 18, 2018
Epilepsy, idiopathic generalized, susceptibility to, 121Feb 28, 2018
Epileptic encephalopathy, childhood-onset1Feb 28, 2018
Epileptic encephalopathy, early infantile, 271Jul 18, 2018
Epileptic encephalopathy, early infantile, 291Feb 28, 2018
Epileptic encephalopathy, early infantile, 421Jul 16, 2018
Epiphyseal dysplasia, multiple, 21Feb 28, 2018
Epiphyseal dysplasia, multiple, with myopia and conductive deafness1Feb 28, 2018
Episodic ataxia type 22Jul 18, 2018
Episodic ataxia, type 51Jul 18, 2018
Familial Mediterranean fever1Feb 28, 2018
Familial cold autoinflammatory syndrome 21Feb 28, 2018
Familial cold autoinflammatory syndrome 42Feb 28, 2018
Familial expansile osteolysis1Feb 28, 2018
Familial infantile myasthenia2Feb 28, 2018
Familial partial lipodystrophy 21Jul 18, 2018
Familial temporal lobe epilepsy 11Feb 28, 2018
Fanconi anemia, complementation group A1Feb 28, 2018
Floating-Harbor syndrome1Jul 18, 2018
Frank-Ter Haar syndrome2Feb 28, 2018
Fraser syndrome 12Feb 28, 2018
GM1 gangliosidosis type 21Jul 18, 2018
GM1 gangliosidosis type 31Jul 18, 2018
Galactosylceramide beta-galactosidase deficiency1Feb 28, 2018
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies1Feb 28, 2018
Glycogen storage disease, type II2Feb 28, 2018
Glycogen storage disease, type IV3Feb 28, 2018
Gorlin syndrome1Feb 28, 2018
Growth delay due to insulin-like growth factor I resistance1Feb 28, 2018
Heart-hand syndrome, Slovenian type1Jul 18, 2018
Hereditary sensory neuropathy type IE1Feb 28, 2018
Hereditary spastic paraplegia 151Nov 19, 2019
Hereditary spastic paraplegia 21Jul 18, 2018
Hereditary spastic paraplegia 391Feb 28, 2018
Hereditary spastic paraplegia 71Jul 18, 2018
Holocarboxylase synthetase deficiency1Feb 28, 2018
Hutchinson-Gilford syndrome1Jul 18, 2018
Hyperinsulinemic hypoglycemia, familial, 11Feb 28, 2018
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1Feb 28, 2018
Hyperphosphatasia with mental retardation syndrome 12Feb 28, 2018
Hyperphosphatasia with mental retardation syndrome 41Feb 28, 2018
Hypertrophic cardiomyopathy 251Feb 28, 2018
Hypophosphatemic rickets, autosomal recessive, 22Feb 28, 2018
Hypotonia, ataxia, and delayed development syndrome1Feb 28, 2018
Ichthyosis vulgaris2Feb 28, 2018
Immunodeficiency 111Jul 18, 2018
Immunodeficiency 11b with atopic dermatitis1Jul 18, 2018
Immunodeficiency 121Feb 28, 2018
Immunodeficiency 152Feb 28, 2018
Infantile GM1 gangliosidosis2Jul 18, 2018
Infantile cerebellar-retinal degeneration2Jul 18, 2018
Infantile neuroaxonal dystrophy2Feb 28, 2018
Intellectual disability-developmental delay-contractures syndrome1Feb 28, 2018
Joubert syndrome 232Feb 28, 2018
Joubert syndrome 51Feb 28, 2018
Juvenile myelomonocytic leukemia1Feb 28, 2018
KBG syndrome2Feb 28, 2018
Kabuki syndrome 11Feb 28, 2018
Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism1Feb 28, 2018
Kniest dysplasia1Feb 28, 2018
Koolen-de Vries syndrome1Feb 28, 2018
Laron-type isolated somatotropin defect1Feb 28, 2018
Laurence-Moon syndrome1Feb 28, 2018
Leigh syndrome1Feb 28, 2018
Lethal congenital contracture syndrome 51Jul 18, 2018
Lethal multiple pterygium syndrome1Feb 28, 2018
Lethal tight skin contracture syndrome1Jul 18, 2018
Leukodystrophy, hypomyelinating, 21Feb 28, 2018
Limb-girdle muscular dystrophy, type 1B1Jul 18, 2018
Limb-girdle muscular dystrophy, type 2J4Feb 28, 2018
Limb-girdle muscular dystrophy, type 2Q1Feb 28, 2018
Limb-girdle muscular dystrophy-dystroglycanopathy, type C51Feb 28, 2018
Lissencephaly 31Jul 18, 2018
Lissencephaly, X-linked1Feb 28, 2018
Loeys-Dietz syndrome 21Feb 28, 2018
MASA syndrome1Feb 28, 2018
MASP2 deficiency1Feb 28, 2018
Macrocephaly, dysmorphic facies, and psychomotor retardation2Feb 28, 2018
Macular corneal dystrophy1Feb 28, 2018
Mandibuloacral dysplasia with type A lipodystrophy1Jul 18, 2018
Mastocytosis1Feb 28, 2018
Medium-chain acyl-coenzyme A dehydrogenase deficiency1Feb 28, 2018
Megaconial type congenital muscular dystrophy1Feb 28, 2018
Megalencephalic leukoencephalopathy with subcortical cysts 11Feb 28, 2018
Meier-Gorlin syndrome 11Feb 28, 2018
Mental retardation 3, X-linked1Feb 28, 2018
Mental retardation, X-linked 1021Feb 28, 2018
Mental retardation, X-linked 191Feb 28, 2018
Mental retardation, X-linked 992Jul 18, 2018
Mental retardation, X-linked 99, syndromic, female-restricted1Feb 28, 2018
Mental retardation, X-linked, syndromic 131Feb 28, 2018
Mental retardation, autosomal dominant 11Feb 28, 2018
Mental retardation, autosomal dominant 131Feb 28, 2018
Mental retardation, autosomal dominant 191Jul 18, 2018
Mental retardation, autosomal dominant 211Jul 18, 2018
Mental retardation, autosomal dominant 221Feb 28, 2018
Mental retardation, autosomal dominant 261Feb 28, 2018
Mental retardation, autosomal dominant 51Feb 28, 2018
Mental retardation, autosomal dominant 61Jul 18, 2018
Mental retardation, autosomal recessive 132Feb 28, 2018
Mental retardation, autosomal recessive 151Feb 28, 2018
Mental retardation, autosomal recessive 181Feb 28, 2018
Mental retardation, autosomal recessive 371Feb 28, 2018
Mental retardation, autosomal recessive 382Jul 18, 2018
Mental retardation, autosomal recessive 462Feb 28, 2018
Mental retardation, autosomal recessive 71Feb 28, 2018
Mental retardation, syndromic 14, X-linked1Feb 28, 2018
Merosin deficient congenital muscular dystrophy3Feb 28, 2018
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation1Feb 28, 2018
Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive1Jul 18, 2018
Mitochondrial DNA depletion syndrome 21Feb 28, 2018
Mitochondrial DNA depletion syndrome 4B, MNGIE type2Feb 28, 2018
Mitochondrial DNA-depletion syndrome 3, hepatocerebral1Feb 28, 2018
Mitochondrial complex I deficiency3Jul 18, 2018
Mitochondrial complex III deficiency, nuclear type 21Feb 28, 2018
Mitochondrial complex IV deficiency1Feb 28, 2018
Mitochondrial trifunctional protein deficiency1Feb 28, 2018
Miyoshi muscular dystrophy 11Feb 28, 2018
Mucopolysaccharidosis type 61Feb 28, 2018
Mucopolysaccharidosis, MPS-III-A1Feb 28, 2018
Multiple acyl-CoA dehydrogenase deficiency1Feb 28, 2018
Multiple congenital anomalies-hypotonia-seizures syndrome 11Jul 18, 2018
Multiple congenital anomalies-hypotonia-seizures syndrome 31Feb 28, 2018
Multiple epiphyseal dysplasia 61Feb 28, 2018
Multiple epiphyseal dysplasia type 41Feb 28, 2018
Multiple gastrointestinal atresias1Feb 28, 2018
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1Feb 28, 2018
Muscle AMP deaminase deficiency2Feb 28, 2018
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency1Feb 28, 2018
Myasthenia, limb-girdle, familial2Feb 28, 2018
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency1Feb 28, 2018
Myasthenic syndrome, congenital, 81Feb 28, 2018
Myoclonic epilepsy, familial infantile1Feb 28, 2018
Myopathy, centronuclear, 11Jul 18, 2018
Myopathy, centronuclear, 21Feb 28, 2018
Myopathy, distal, with anterior tibial onset1Feb 28, 2018
Myopathy, myofibrillar, 9, with early respiratory failure1Feb 28, 2018
Myopathy, vacuolar, with casq1 aggregates1Feb 28, 2018
Myopia, high, with cataract and vitreoretinal degeneration1Feb 28, 2018
Namaqualand hip dysplasia1Feb 28, 2018
Navajo neurohepatopathy1Feb 28, 2018
Nemaline myopathy 26Feb 28, 2018
Neonatal adrenoleucodystrophy1Feb 28, 2018
Neurodegeneration with brain iron accumulation 2b1Feb 28, 2018
Niemann-Pick disease type C12Feb 28, 2018
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1Feb 28, 2018
Norman-Roberts syndrome1Feb 28, 2018
Otospondylomegaepiphyseal dysplasia, autosomal dominant1Feb 28, 2018
Paget disease of bone 2, early-onset1Feb 28, 2018
Parkinson disease 141Feb 28, 2018
Parkinson disease 23, autosomal recessive early-onset1Feb 28, 2018
Parkinsonism-dystonia, infantile, 11Feb 28, 2018
Paroxysmal nocturnal hemoglobinuria 21Feb 28, 2018
Pelizaeus-Merzbacher disease1Jul 18, 2018
Pena-Shokeir syndrome type I1Feb 28, 2018
Periventricular nodular heterotopia 11Feb 28, 2018
Peroxisomal acyl-CoA oxidase deficiency1Feb 28, 2018
Peroxisome biogenesis disorder 1A (Zellweger)1Feb 28, 2018
Peroxisome biogenesis disorder 1B2Feb 28, 2018
Peroxisome biogenesis disorder 2A (Zellweger)1Feb 28, 2018
Peroxisome biogenesis disorder 5B2Feb 28, 2018
Peroxisome biogenesis disorder 5a (zellweger)2Feb 28, 2018
Peroxisome biogenesis disorder 7B1Feb 28, 2018
Peters plus syndrome1Feb 28, 2018
Phenylketonuria2Feb 28, 2018
Phosphoglycerate kinase 1 deficiency1Feb 28, 2018
Phytanic acid storage disease1Feb 28, 2018
Pigmentary pallidal degeneration1Feb 28, 2018
Pitt-Hopkins syndrome1Jul 18, 2018
Pitt-Hopkins-like syndrome 21Feb 28, 2018
Platyspondylic dysplasia, Torrance type1Feb 28, 2018
Primary autosomal recessive microcephaly 11Feb 28, 2018
Primary autosomal recessive microcephaly 33Feb 28, 2018
Primary autosomal recessive microcephaly 52Feb 28, 2018
Primary pulmonary hypertension 41Feb 28, 2018
Progressive sclerosing poliodystrophy3Feb 28, 2018
Proline dehydrogenase deficiency2Feb 28, 2018
Pyruvate dehydrogenase E2 deficiency2Feb 28, 2018
Renal carnitine transport defect1Feb 28, 2018
Rett syndrome2Jul 18, 2018
Rhizomelic chondrodysplasia punctata type 51Feb 28, 2018
Robinow syndrome, autosomal recessive1Feb 28, 2018
Rokitansky Kuster Hauser syndrome1Feb 28, 2018
Sarcotubular myopathy1Feb 28, 2018
Schwartz-Jampel syndrome2Jul 18, 2018
Seizures, benign familial infantile, 32Jul 18, 2018
Seizures, benign familial infantile, 51Feb 28, 2018
Seizures, scoliosis, and macrocephaly syndrome2Feb 28, 2018
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome3Jul 18, 2018
Short stature, idiopathic, autosomal2Feb 28, 2018
Singleton-Merten syndrome 11Feb 28, 2018
Spastic ataxia 5, autosomal recessive1Feb 28, 2018
Spastic paraplegia 353Feb 28, 2018
Spastic paraplegia 52, autosomal recessive1Feb 28, 2018
Spastic paraplegia 55, autosomal recessive1Feb 28, 2018
Spastic paraplegia 64, autosomal recessive1Feb 28, 2018
Spherocytosis type 31Feb 28, 2018
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant1Feb 28, 2018
Spinocerebellar ataxia type 281Feb 28, 2018
Spinocerebellar ataxia type 51Feb 28, 2018
Spinocerebellar ataxia, autosomal recessive 141Feb 28, 2018
Spinocerebellar ataxia, autosomal recessive 81Feb 28, 2018
Spondyloepimetaphyseal dysplasia with joint laxity, type 21Feb 28, 2018
Spondyloepiphyseal dysplasia congenita1Feb 28, 2018
Spondyloepiphyseal dysplasia, stanescu type1Feb 28, 2018
Spondylometaphyseal dysplasia1Feb 28, 2018
Spondyloperipheral dysplasia-short ulna syndrome1Feb 28, 2018
Steel syndrome1Feb 28, 2018
Stickler syndrome type 11Feb 28, 2018
Stickler syndrome, type 41Feb 28, 2018
Stickler syndrome, type 51Feb 28, 2018
Stickler syndrome, type I, nonsyndromic ocular1Feb 28, 2018
Supravalvar aortic stenosis1Feb 28, 2018
Symmetrical dyschromatosis of extremities1Feb 28, 2018
Syndromic X-linked intellectual disability Turner type1Feb 28, 2018
Tay-Sachs disease1Jul 18, 2018
Temtamy syndrome1Feb 28, 2018
Thyroglobulin synthesis defect1Feb 28, 2018
Thyroid dyshormonogenesis 61Feb 28, 2018
Tibial muscular dystrophy1Feb 28, 2018
Torsion dystonia 61Feb 28, 2018
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome1Feb 28, 2018
Tuberous sclerosis 21Feb 28, 2018
Ullrich congenital muscular dystrophy 12Feb 28, 2018
Urofacial syndrome 11Feb 28, 2018
Usher syndrome type 11Feb 28, 2018
Usher syndrome, type 1G1Feb 28, 2018
Usher syndrome, type 2A1Jul 18, 2018
Usher syndrome, type 3B1Feb 28, 2018
Ventricular septal defect 31Feb 28, 2018
Very long chain acyl-CoA dehydrogenase deficiency1Feb 28, 2018
Waardenburg syndrome type 4A1Feb 28, 2018
Wilson disease2Feb 28, 2018
X-linked agammaglobulinemia1Feb 28, 2018
X-linked agammaglobulinemia with growth hormone deficiency1Feb 28, 2018
X-linked chondrodysplasia punctata 11Feb 28, 2018
Xia-Gibbs syndrome1Feb 28, 2018
ZTTK syndrome1Feb 28, 2018
not provided2646Feb 25, 2020
not specified464Oct 31, 2017
von Willebrand disease type 21Feb 28, 2018

Testing in GTR

Disease nameNumber of tests
46,XX testicular disorder of sex development1 test
46,xx gonadal dysgenesis, complete, sry-positive1 test
Acute intermittent porphyria2 tests
Acute myeloid leukemia1 test
Adenylate kinase deficiency, hemolytic anemia due to1 test
Afibrinogenemia, congenital1 test
Ambiguous genitalia1 test
Amyotrophic lateral sclerosis1 test
Andersen Tawil syndrome2 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
Aneurysmal bone cyst1 test
Angelman syndrome1 test
Anomaly of sex chromosome6 tests
Apolipoprotein A-II deficiency1 test
Asperger's disease1 test
Ataxia-telangiectasia syndrome1 test
Atypical hemolytic uremic syndrome1 test
Autism spectrum disorder2 tests
Autosomal chromosomal disorder7 tests
Autosomal recessive polycystic kidney disease1 test
Biotinidase deficiency1 test
Bloom syndrome1 test
Bone marrow transplant1 test
Burkitt lymphoma1 test
CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy1 test
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyltransferase II deficiency1 test
Cellular mosaicism1 test
Chromosome 22q11.2 microduplication syndrome1 test
Chronic myelogenous leukemia, BCR-ABL1 positive1 test
Chronic myelomonocytic leukemia1 test
Combined d-2- and l-2-hydroxyglutaric aciduria1 test
Complement factor B deficiency1 test
Complement factor d deficiency1 test
Complete trisomy 13 syndrome4 tests
Complete trisomy 18 syndrome4 tests
Complete trisomy 21 syndrome4 tests
Congenital chromosomal disease8 tests
Congenital dyserythropoietic anemia1 test
Congenital dyserythropoietic anemia, type I1 test
Congenital dyserythropoietic anemia, type II1 test
Congenital dyserythropoietic anemia, type IV1 test
Congenital long QT syndrome1 test
Congenital myasthenic syndrome1 test
Congenital myopathy1 test
D-2-hydroxyglutaric aciduria1 test
D-2-hydroxyglutaric aciduria 11 test
D-2-hydroxyglutaric aciduria 21 test
Deficiency of butyryl-CoA dehydrogenase1 test
Delayed puberty1 test
Diamond-Blackfan anemia 11 test
Distal myopathy1 test
Dysplasminogenemia1 test
Elliptocytosis 11 test
Elliptocytosis 21 test
Elliptocytosis 31 test
Elliptocytosis 41 test
Emery-Dreifuss muscular dystrophy1 test
Erythrocytosis1 test
Factor H deficiency1 test
Familial Mediterranean fever1 test
Familial erythrocytosis1 test
Familial hypercholesterolemia1 test
Familial hypercholesterolemia 11 test
Familial hypercholesterolemia 21 test
Familial hypercholesterolemia 31 test
Familial hypercholesterolemia 41 test
Familial hyperkalemic periodic paralysis1 test
Familial hypoalphalipoproteinemia1 test
Familial visceral amyloidosis, Ostertag type3 tests
Fanconi anemia1 test
Follicular lymphoma1 test
Frontotemporal dementia1 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis1 test
GATA-1-related thrombocytopenia with dyserythropoiesis1 test
GLUT1 deficiency syndrome 21 test
Galactosemia1 test
Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to1 test
Global developmental delay1 test
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to1 test
Glycogen storage disease, type VII1 test
HNSHA due to aldolase A deficiency1 test
Hematologic disorders1 test
Hematologic neoplasm3 tests
Heme oxygenase 1 deficiency1 test
Hemolytic anemia1 test
Hemolytic anemia due to hexokinase deficiency1 test
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency1 test
Hereditary coproporphyria2 tests
Hereditary elliptocytosis1 test
Hereditary factor IX deficiency disease1 test
Hereditary non-spherocytic hemolytic anemia2 tests
Hereditary pancreatitis1 test
Hereditary pyropoikilocytosis1 test
Hereditary spherocytosis1 test
Hereditary stomatocytosis1 test
Hypokalemic periodic paralysis1 test
Idiopathic hypereosinophilic syndrome1 test
Infertility1 test
Jervell and Lange-Nielsen syndrome1 test
Klinefelter's syndrome, XXY2 tests
L-2-hydroxyglutaric aciduria1 test
Long QT syndrome1 test
Lymphoblastic leukemia, acute, with lymphomatous features1 test
Malignant hematological disorder1 test
Malignant lymphoma, large B-cell, diffuse2 tests
Mantle cell lymphoma1 test
Mast cell disease, systemic1 test
McLeod neuroacanthocytosis syndrome1 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
Meretoja syndrome1 test
Metabolic myopathy1 test
Metachromatic leukodystrophy1 test
Mosaic sex chromosome aneuploidy1 test
Motor neuron disease1 test
Mucosa-associated lymphoma1 test
Muscular dystrophy1 test
Myofibrillar myopathy1 test
Myotonia congenita1 test
Nodular fasciitis1 test
Ovalocytosis, southeast Asian1 test
Pre-B-cell acute lymphoblastic leukemia1 test
Pure gonadal dysgenesis 46,XY1 test
Pyruvate kinase deficiency of red cells2 tests
Rh-null, regulator type1 test
Rhabdomyolysis1 test
Romano-Ward syndrome1 test
Sex-linked hereditary disorder3 tests
Shprintzen syndrome1 test
Sitosterolemia1 test
Spherocytosis type 11 test
Spherocytosis type 21 test
Spherocytosis type 31 test
Spherocytosis type 41 test
Spherocytosis type 51 test
Spontaneous abortion1 test
Syndromic intellectual disability1 test
Tetraploidy syndrome1 test
Thrombophilia due to thrombin defect1 test
Thrombotic microangiopathy1 test
Timothy syndrome1 test
Triosephosphate isomerase deficiency1 test
Triploidy1 test
Trisomy1 test
Trisomy X syndrome1 test
Turner syndrome3 tests
Upshaw-Schulman syndrome1 test
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to1 test
Variegate porphyria2 tests
Very long chain acyl-CoA dehydrogenase deficiency1 test
Wilson disease1 test
Xerocytosis1 test
Support Center