Blueprint Genetics
General information
Blueprint Genetics
Keilaranta 16 A-B
Espoo
Southern Finland
Finland - 02150
http://www.blueprintgenetics.com/
Organization ID: 500188
Keilaranta 16 A-B
Espoo
Southern Finland
Finland - 02150
http://www.blueprintgenetics.com/
Organization ID: 500188
Personnel
- Juha Koskenvuo, Lab Director
Phone: +358402511372
Email: support@blueprintgenetics.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 5556
Gene
Gene | Submissions | Last Updated |
---|---|---|
ABCA4 | 385 | Jul 22, 2020 |
ABCC6 | 1 | May 8, 2019 |
ABCC9 | 9 | May 8, 2019 |
ABCG5 | 1 | Jan 15, 2016 |
ABHD12 | 6 | Oct 15, 2019 |
ABL1 | 1 | May 8, 2019 |
ACADVL | 2 | Jan 15, 2016 |
ACAN | 9 | Sep 1, 2021 |
ACBD6 | 1 | Sep 1, 2021 |
ACO2 | 1 | Oct 15, 2019 |
ACTA1 | 1 | May 8, 2019 |
ACTA2 | 14 | May 8, 2019 |
ACTA2-AS1 | 6 | May 8, 2019 |
ACTB | 1 | May 8, 2019 |
ACTC1 | 9 | May 8, 2019 |
ACTN1 | 1 | May 8, 2019 |
ACTN2 | 18 | May 8, 2019 |
ACVRL1 | 1 | Feb 2, 2015 |
ADA | 5 | May 8, 2019 |
ADA2 | 4 | May 8, 2019 |
ADAM17 | 1 | May 8, 2019 |
ADAMTSL2 | 3 | Sep 1, 2021 |
ADGRV1 | 40 | Oct 15, 2019 |
AGBL5 | 8 | Oct 15, 2019 |
AHI1 | 17 | Oct 15, 2019 |
AICDA | 1 | May 8, 2019 |
AIPL1 | 7 | Oct 15, 2019 |
AIRE | 5 | May 8, 2019 |
AK2 | 1 | May 8, 2019 |
AKAP9 | 20 | Jan 15, 2016 |
ALMS1 | 25 | Oct 15, 2019 |
ALPK3 | 6 | May 8, 2019 |
ALPL | 7 | Sep 1, 2021 |
ANK2 | 21 | Jan 15, 2016 |
ANKRD1 | 5 | Jan 15, 2016 |
ANKRD11 | 6 | Sep 1, 2021 |
APOA1 | 1 | May 8, 2019 |
APOA1-AS | 1 | May 8, 2019 |
APOB | 4 | Feb 2, 2015 |
ARHGEF18 | 4 | Oct 15, 2019 |
ARPC1B | 1 | May 8, 2019 |
ARSB | 1 | Sep 1, 2021 |
ARSL | 2 | Sep 1, 2021 |
ATM | 8 | May 8, 2019 |
AXDND1 | 1 | Feb 2, 2015 |
B9D1 | 2 | May 26, 2022 |
BACH2 | 3 | May 8, 2019 |
BAG3 | 14 | May 8, 2019 |
BBS1 | 12 | Oct 15, 2019 |
BBS10 | 6 | Oct 15, 2019 |
BBS12 | 14 | Oct 15, 2019 |
BBS2 | 9 | Oct 15, 2019 |
BBS4 | 4 | Oct 15, 2019 |
BBS5 | 1 | Oct 15, 2019 |
BBS7 | 3 | Oct 15, 2019 |
BBS9 | 3 | Oct 15, 2019 |
BEST1 | 43 | Oct 15, 2019 |
BGN | 3 | Sep 1, 2021 |
BLOC1S1-RDH5 | 5 | Oct 15, 2019 |
BMP2 | 3 | Sep 1, 2021 |
BMPR2 | 2 | Jan 15, 2016 |
BRAF | 8 | May 8, 2019 |
BTK | 4 | May 8, 2019 |
C10orf105 | 4 | Oct 15, 2019 |
C11orf65 | 4 | May 8, 2019 |
C1QA | 1 | May 8, 2019 |
C1QTNF5 | 11 | Oct 15, 2019 |
C1R | 1 | May 8, 2019 |
C2 | 2 | May 8, 2019 |
C2orf49 | 5 | Jan 15, 2016 |
C3 | 4 | May 8, 2019 |
C6 | 2 | May 8, 2019 |
C7 | 3 | May 8, 2019 |
C8G | 1 | May 8, 2019 |
CABP4 | 3 | Oct 15, 2019 |
CACNA1A | 2 | Nov 26, 2021 |
CACNA1C | 12 | Jan 15, 2016 |
CACNA1C-AS1 | 6 | Jan 15, 2016 |
CACNA1F | 21 | Oct 15, 2019 |
CACNA2D1 | 3 | Jan 15, 2016 |
CACNA2D4 | 4 | Oct 15, 2019 |
CACNB2 | 7 | Jan 15, 2016 |
CALM1 | 2 | Feb 2, 2015 |
CALR3 | 3 | Feb 2, 2015 |
CANT1 | 1 | Sep 1, 2021 |
CAPN5 | 2 | Oct 15, 2019 |
CARD11 | 11 | May 8, 2019 |
CARD9 | 2 | May 8, 2019 |
CARMIL2 | 2 | May 8, 2019 |
CASP8 | 2 | May 8, 2019 |
CASQ2 | 1 | Jan 15, 2016 |
CAV3 | 1 | Jan 15, 2016 |
CBL | 4 | Sep 1, 2021 |
CBS | 1 | May 8, 2019 |
CC2D2A | 1 | Oct 15, 2019 |
CCDC107 | 1 | Sep 1, 2021 |
CCDC40 | 1 | May 8, 2019 |
CD19 | 3 | May 8, 2019 |
CD27 | 2 | May 8, 2019 |
CD27-AS1 | 2 | May 8, 2019 |
CD3D | 1 | May 8, 2019 |
CD40 | 1 | May 8, 2019 |
CD40LG | 3 | May 8, 2019 |
CD63 | 2 | Oct 15, 2019 |
CD81 | 2 | May 8, 2019 |
CDH23 | 24 | Oct 15, 2019 |
CDH23-AS1 | 1 | Oct 15, 2019 |
CDH3 | 1 | Oct 15, 2019 |
CDHR1 | 14 | Oct 15, 2019 |
CDKL5 | 24 | Jul 23, 2020 |
CDKN1C | 1 | Sep 1, 2021 |
CDT1 | 1 | Sep 1, 2021 |
CEP164 | 2 | Oct 15, 2019 |
CEP290 | 37 | Oct 15, 2019 |
CEP78 | 7 | Oct 15, 2019 |
CEP85L | 3 | Jan 15, 2016 |
CERKL | 21 | Oct 15, 2019 |
CFAP410 | 8 | Oct 15, 2019 |
CFAP418 | 1 | Oct 15, 2019 |
CFD | 2 | May 8, 2019 |
CFH | 5 | May 8, 2019 |
CFI | 1 | May 8, 2019 |
CFTR | 3 | May 8, 2019 |
CFTR-AS1 | 2 | May 8, 2019 |
CHD2 | 2 | Jul 23, 2020 |
CHM | 29 | Oct 15, 2019 |
CHST3 | 3 | Sep 1, 2021 |
CIITA | 2 | May 8, 2019 |
CLASP1 | 7 | Sep 1, 2021 |
CLCN5 | 1 | May 8, 2019 |
CLCN7 | 1 | May 8, 2019 |
CLN3 | 9 | Oct 15, 2019 |
CLRN1 | 9 | Oct 15, 2019 |
CLRN1-AS1 | 1 | Oct 15, 2019 |
CNGA1 | 18 | Oct 15, 2019 |
CNGA3 | 33 | Sep 29, 2020 |
CNGB1 | 27 | Oct 15, 2019 |
CNGB3 | 13 | Oct 15, 2019 |
CNNM4 | 2 | Oct 15, 2019 |
COL10A1 | 9 | Sep 1, 2021 |
COL11A1 | 4 | Sep 1, 2021 |
COL11A2 | 5 | Sep 1, 2021 |
COL18A1 | 3 | Oct 15, 2019 |
COL1A1 | 16 | Sep 1, 2021 |
COL1A2 | 13 | Sep 1, 2021 |
COL2A1 | 41 | Sep 1, 2021 |
COL3A1 | 20 | May 8, 2019 |
COL5A1 | 19 | Sep 1, 2021 |
COL5A2 | 22 | May 8, 2019 |
COL9A1 | 1 | Sep 1, 2021 |
COL9A2 | 1 | Sep 1, 2021 |
COL9A3 | 1 | Sep 1, 2021 |
COMP | 12 | Sep 1, 2021 |
COMT | 1 | Jan 15, 2016 |
COPA | 2 | May 8, 2019 |
CR2 | 5 | May 8, 2019 |
CRB1 | 69 | Oct 15, 2019 |
CREBBP | 3 | Sep 1, 2021 |
CRTAP | 1 | Sep 1, 2021 |
CRX | 19 | Oct 15, 2019 |
CRYAB | 3 | Jan 15, 2016 |
CSF2RA | 1 | May 8, 2019 |
CSF3R | 1 | May 8, 2019 |
CSRP3 | 11 | May 8, 2019 |
CTC1 | 1 | May 8, 2019 |
CTF1 | 2 | Jan 15, 2016 |
CTLA4 | 4 | May 8, 2019 |
CTNNA1 | 8 | Oct 15, 2019 |
CTNNA3 | 14 | Jan 15, 2016 |
CTSC | 1 | May 8, 2019 |
CUL7 | 5 | Sep 1, 2021 |
CWC27 | 1 | Oct 15, 2019 |
CXCR4 | 1 | May 8, 2019 |
CYBA | 1 | May 8, 2019 |
CYBB | 2 | May 8, 2019 |
CYGB | 2 | Oct 15, 2019 |
CYP2U1-AS1 | 1 | Sep 1, 2021 |
CYP4V2 | 7 | Oct 15, 2019 |
DCLRE1C | 1 | May 8, 2019 |
DCX | 1 | Jul 23, 2020 |
DDR2 | 2 | Sep 1, 2021 |
DES | 11 | May 8, 2019 |
DGKE | 1 | May 8, 2019 |
DHODH | 1 | Sep 1, 2021 |
DLG4 | 1 | Feb 2, 2015 |
DLL3 | 1 | Sep 1, 2021 |
DMD | 14 | May 8, 2019 |
DMPK | 3 | Jan 15, 2016 |
DNAAF1 | 1 | May 8, 2019 |
DNAAF11 | 1 | May 8, 2019 |
DNAAF4 | 1 | May 8, 2019 |
DNAAF4-CCPG1 | 1 | May 8, 2019 |
DNAAF5 | 2 | May 8, 2019 |
DNAH11 | 2 | May 8, 2019 |
DNAH5 | 1 | May 8, 2019 |
DNAJC21 | 1 | May 8, 2019 |
DNMT3B | 1 | May 8, 2019 |
DOCK2 | 7 | May 8, 2019 |
DOCK6 | 2 | Sep 1, 2021 |
DOCK6-AS1 | 1 | Sep 1, 2021 |
DOCK8 | 1 | May 8, 2019 |
DOP1A | 1 | Sep 1, 2021 |
DPH2 | 2 | May 8, 2020 |
DPP6 | 4 | Jan 15, 2016 |
DRAM2 | 2 | Oct 15, 2019 |
DSC2 | 18 | May 8, 2019 |
DSCAS | 1 | Jan 15, 2016 |
DSG2 | 22 | Jan 15, 2016 |
DSG2-AS1 | 8 | Jan 15, 2016 |
DSP | 67 | May 8, 2019 |
DSP-AS1 | 1 | Jan 15, 2016 |
DTHD1 | 2 | Oct 15, 2019 |
DTNA | 6 | Jan 15, 2016 |
DVL1 | 2 | Sep 1, 2021 |
DYNC2H1 | 15 | Sep 1, 2021 |
DYNC2LI1 | 1 | Jan 15, 2016 |
DYSF | 2 | May 8, 2019 |
EFEMP1 | 6 | Oct 15, 2019 |
EFEMP2 | 1 | May 8, 2019 |
EFTUD2 | 1 | Sep 1, 2021 |
ELANE | 4 | May 8, 2019 |
ELN | 6 | May 8, 2019 |
ELN-AS1 | 1 | May 8, 2019 |
ELOVL4 | 2 | Oct 15, 2019 |
EMD | 2 | Jan 15, 2016 |
ENG | 2 | Jan 15, 2016 |
EP300 | 1 | Sep 1, 2021 |
ESCO2 | 1 | Sep 1, 2021 |
ESR2 | 2 | Jan 15, 2016 |
EVC | 1 | Sep 1, 2021 |
EVC2 | 2 | Sep 1, 2021 |
EXT2 | 1 | Sep 1, 2021 |
EYA4 | 1 | Jan 15, 2016 |
EYS | 111 | May 26, 2022 |
FAM161A | 7 | Oct 15, 2019 |
FAM20A | 2 | Sep 1, 2021 |
FAS | 3 | May 8, 2019 |
FBLN5 | 2 | Oct 15, 2019 |
FBN1 | 104 | Sep 1, 2021 |
FBN2 | 16 | May 8, 2019 |
FGD1 | 1 | Sep 1, 2021 |
FGFR1 | 1 | Sep 1, 2021 |
FGFR2 | 1 | Sep 1, 2021 |
FGFR3 | 14 | Sep 1, 2021 |
FHL1 | 6 | May 8, 2019 |
FHL2 | 5 | Jan 15, 2016 |
FKBP10 | 1 | Sep 1, 2021 |
FLNA | 11 | Sep 1, 2021 |
FLNB | 11 | Sep 1, 2021 |
FLNC | 17 | May 8, 2019 |
FLNC-AS1 | 7 | May 8, 2019 |
FLVCR1 | 9 | Oct 15, 2019 |
FN1 | 1 | Sep 1, 2021 |
FOXP3 | 2 | May 8, 2019 |
FPGT-TNNI3K | 2 | May 8, 2019 |
FRMD7 | 1 | Oct 15, 2019 |
FTH1 | 1 | Oct 15, 2019 |
FZD4 | 2 | Oct 15, 2019 |
G6PD | 2 | May 8, 2019 |
GAA | 3 | May 8, 2019 |
GANAB | 2 | May 8, 2019 |
GATA2 | 3 | May 8, 2019 |
GATA4 | 1 | May 31, 2022 |
GATA5 | 6 | May 8, 2019 |
GATA6 | 1 | May 8, 2019 |
GATAD1 | 1 | Oct 15, 2019 |
GDF5 | 1 | Sep 1, 2021 |
GFI1 | 1 | May 8, 2019 |
GIGYF2 | 2 | Oct 15, 2019 |
GJD2-DT | 9 | May 8, 2019 |
GLA | 9 | May 8, 2019 |
GLB1 | 1 | Mar 2, 2015 |
GLI3 | 3 | Sep 1, 2021 |
GNAS | 3 | Sep 1, 2021 |
GNAT1 | 2 | Oct 15, 2019 |
GNAT2 | 2 | Oct 15, 2019 |
GPD1L | 3 | Jan 15, 2016 |
GPHN | 28 | Oct 15, 2019 |
GPR179 | 6 | Oct 15, 2019 |
GRM6 | 6 | Oct 15, 2019 |
GUCA1A | 10 | Oct 15, 2019 |
GUCA1ANB-GUCA1A | 10 | Oct 15, 2019 |
GUCA1B | 1 | Oct 15, 2019 |
GUCY2D | 26 | Oct 15, 2019 |
HARS1 | 2 | Oct 15, 2019 |
HAX1 | 1 | May 8, 2019 |
HCN4 | 7 | May 8, 2019 |
HDAC8 | 1 | Sep 1, 2021 |
HFE | 5 | Jan 15, 2016 |
HFE-AS1 | 3 | Jan 15, 2016 |
HGSNAT | 11 | May 15, 2020 |
HK1 | 4 | Oct 15, 2019 |
HNF1B | 1 | May 8, 2019 |
HRAS | 7 | May 8, 2019 |
HRC | 2 | Jan 15, 2016 |
HSPG2 | 5 | Sep 1, 2021 |
HYDIN | 1 | May 8, 2019 |
HYOU1 | 1 | May 8, 2019 |
IFIH1 | 3 | May 8, 2019 |
IFITM5 | 1 | Sep 1, 2021 |
IFNAR2-IL10RB | 1 | May 8, 2019 |
IFNGR1 | 1 | May 8, 2019 |
IFNGR2 | 1 | May 8, 2019 |
IFT140 | 32 | Oct 15, 2019 |
IFT172 | 4 | Oct 15, 2019 |
IGFALS | 2 | Sep 1, 2021 |
IHH | 2 | Sep 1, 2021 |
IKZF1 | 3 | May 8, 2019 |
IL10RB | 1 | May 8, 2019 |
IL12RB1 | 2 | May 8, 2019 |
IL2RG | 3 | May 8, 2019 |
IL36RN | 1 | May 8, 2019 |
IL7R | 3 | May 8, 2019 |
ILK | 7 | Jan 15, 2016 |
IMPDH1 | 16 | Oct 15, 2019 |
IMPG1 | 11 | Oct 15, 2019 |
IMPG2 | 42 | Oct 15, 2019 |
INF2 | 1 | Feb 2, 2015 |
INPP5E | 10 | Oct 15, 2019 |
INPPL1 | 1 | Sep 1, 2021 |
INVS | 1 | May 8, 2019 |
IQCB1 | 4 | Oct 15, 2019 |
IRF2BP2 | 5 | May 8, 2019 |
ITGA4 | 2 | Oct 15, 2019 |
ITGB2 | 3 | May 8, 2019 |
ITK | 1 | May 8, 2019 |
JAG1 | 1 | Oct 15, 2019 |
JAK3 | 4 | May 8, 2019 |
JPH2 | 16 | May 8, 2019 |
JUP | 14 | May 8, 2019 |
KCNA2 | 2 | Jul 23, 2020 |
KCND3 | 2 | Jan 15, 2016 |
KCNE1 | 2 | Aug 9, 2023 |
KCNE2 | 1 | Feb 2, 2015 |
KCNH2 | 34 | Jan 15, 2016 |
KCNJ13 | 2 | Oct 15, 2019 |
KCNJ2 | 5 | Jan 15, 2016 |
KCNJ8 | 2 | Jan 15, 2016 |
KCNV2 | 18 | Oct 15, 2019 |
KIAA0586 | 2 | Oct 15, 2019 |
KIF11 | 4 | Oct 15, 2019 |
KIF1A | 1 | Jul 23, 2020 |
KIF22 | 2 | Sep 1, 2021 |
KIRREL2 | 1 | Feb 2, 2015 |
KIZ | 5 | Oct 15, 2019 |
KIZ-AS1 | 1 | Oct 15, 2019 |
KLHL7 | 7 | Oct 15, 2019 |
KRAS | 9 | May 8, 2019 |
LAMA4 | 12 | Jan 15, 2016 |
LAMB2 | 2 | Jan 15, 2016 |
LAMP2 | 9 | May 8, 2019 |
LAT | 1 | May 8, 2019 |
LCA5 | 7 | Oct 15, 2019 |
LDB3 | 8 | Jan 15, 2016 |
LDLR | 7 | Jan 15, 2016 |
LHX4 | 1 | Sep 1, 2021 |
LHX4-AS1 | 1 | Sep 1, 2021 |
LIFR | 1 | Sep 1, 2021 |
LIG4 | 2 | May 8, 2019 |
LMNA | 27 | May 8, 2019 |
LOC101448202 | 4 | Jan 15, 2016 |
LOC101927055 | 1 | May 8, 2019 |
LOC101927157 | 18 | Oct 15, 2019 |
LOC102723692 | 1 | Sep 1, 2021 |
LOC102724058 | 1 | Jul 23, 2020 |
LOC105371046 | 14 | Oct 15, 2019 |
LOC105372791 | 1 | Feb 2, 2015 |
LOC106029312 | 3 | May 8, 2019 |
LOC107303343 | 2 | May 8, 2019 |
LOC107652445 | 1 | Sep 1, 2021 |
LOC108021846 | 2 | Sep 1, 2021 |
LOC110121269 | 2 | Jan 15, 2016 |
LOC110806306 | 1 | May 8, 2019 |
LOC111674472 | 1 | May 8, 2019 |
LOC114827850 | 1 | May 8, 2019 |
LOC114827851 | 3 | Jan 15, 2016 |
LOC122152296 | 9 | Oct 15, 2019 |
LOC124418421 | 1 | May 8, 2019 |
LOC126805612 | 1 | May 8, 2019 |
LOC126805613 | 1 | Oct 15, 2019 |
LOC126805726 | 2 | May 8, 2020 |
LOC126805793 | 24 | Oct 15, 2019 |
LOC126805794 | 4 | Oct 15, 2019 |
LOC126805877 | 3 | Jan 15, 2016 |
LOC126805994 | 1 | May 8, 2019 |
LOC126806067 | 1 | Jan 15, 2016 |
LOC126806068 | 3 | Jan 15, 2016 |
LOC126806173 | 2 | Oct 15, 2019 |
LOC126806422 | 2 | Jan 15, 2016 |
LOC126806423 | 2 | May 8, 2019 |
LOC126806426 | 3 | May 8, 2019 |
LOC126806427 | 2 | May 8, 2019 |
LOC126806428 | 1 | Aug 28, 2014 |
LOC126806431 | 1 | Feb 2, 2015 |
LOC126806433 | 2 | May 8, 2019 |
LOC126806446 | 1 | May 8, 2019 |
LOC126806913 | 1 | Oct 15, 2019 |
LOC126807136 | 3 | Jan 15, 2016 |
LOC126807137 | 4 | Jan 15, 2016 |
LOC126807501 | 2 | May 8, 2019 |
LOC126807589 | 1 | May 8, 2019 |
LOC126859690 | 2 | May 8, 2019 |
LOC126859837 | 1 | Jan 15, 2016 |
LOC126860392 | 5 | Oct 15, 2019 |
LOC126861318 | 1 | Sep 1, 2021 |
LOC126861896 | 2 | Jan 15, 2016 |
LOC126861897 | 6 | Jan 15, 2016 |
LOC126861898 | 13 | May 8, 2019 |
LOC126862124 | 2 | Jan 15, 2016 |
LOC126862260 | 3 | Oct 15, 2019 |
LOC126862586 | 1 | May 8, 2019 |
LOC126862866 | 1 | Jul 23, 2020 |
LOC126863008 | 1 | Oct 15, 2019 |
LOC126863257 | 2 | Oct 15, 2019 |
LOC126863258 | 1 | May 8, 2019 |
LOC129388577 | 1 | Oct 15, 2019 |
LOC129391306 | 4 | Oct 15, 2019 |
LOC129932486 | 1 | Oct 15, 2019 |
LOC129932810 | 2 | May 8, 2019 |
LOC129932812 | 1 | May 8, 2019 |
LOC129933843 | 1 | Oct 15, 2019 |
LOC129935183 | 1 | Jan 15, 2016 |
LOC129935184 | 1 | Feb 2, 2015 |
LOC129935214 | 1 | Oct 15, 2019 |
LOC129936436 | 1 | Sep 1, 2021 |
LOC129992813 | 2 | May 8, 2019 |
LOC129996517 | 1 | Sep 1, 2021 |
LOC129996881 | 1 | Oct 15, 2019 |
LOC129999258 | 1 | Oct 15, 2019 |
LOC130000316 | 1 | Oct 15, 2019 |
LOC130005165 | 1 | May 8, 2019 |
LOC130005201 | 1 | Aug 28, 2014 |
LOC130008520 | 1 | Feb 2, 2015 |
LOC130055387 | 3 | Oct 15, 2019 |
LOC130055403 | 1 | May 8, 2019 |
LOC130057222 | 1 | Jan 15, 2016 |
LOC130058353 | 1 | Sep 1, 2021 |
LOC130058878 | 2 | Jan 15, 2016 |
LOC130059892 | 1 | Sep 1, 2021 |
LOC130062586 | 1 | May 8, 2019 |
LOC130063193 | 1 | May 8, 2019 |
LOC130063377 | 1 | Oct 15, 2019 |
LOC130065509 | 1 | Oct 15, 2019 |
LOC130066823 | 1 | Oct 15, 2019 |
LOC130068098 | 3 | Aug 6, 2020 |
LOC130068202 | 3 | Oct 15, 2019 |
LOC130068854 | 1 | Jul 23, 2020 |
LPIN2 | 2 | May 8, 2019 |
LPL | 1 | Feb 2, 2015 |
LRBA | 16 | May 8, 2019 |
LRP5 | 9 | Oct 15, 2019 |
LRRC56 | 7 | May 8, 2019 |
LTBP3 | 2 | Sep 1, 2021 |
LYST | 4 | May 8, 2019 |
LZTR1 | 7 | Sep 1, 2021 |
MAGT1 | 1 | May 8, 2019 |
MAK | 6 | Oct 15, 2019 |
MALT1 | 3 | May 8, 2019 |
MALT1-AS1 | 1 | May 8, 2019 |
MAP2K2 | 3 | May 8, 2019 |
MASP1 | 4 | May 8, 2019 |
MASP2 | 1 | May 8, 2019 |
MATN3 | 1 | Sep 1, 2021 |
MECP2 | 4 | Jul 23, 2020 |
MEF2C | 1 | Jul 23, 2020 |
MEFV | 1 | May 8, 2019 |
MERTK | 30 | Oct 15, 2019 |
MFAP5 | 1 | May 8, 2019 |
MFRP | 11 | Oct 15, 2019 |
MFSD8 | 3 | Jul 23, 2020 |
MHRT | 11 | May 8, 2019 |
MIB1 | 5 | Jan 15, 2016 |
MKKS | 4 | Oct 15, 2019 |
MMACHC | 1 | Oct 15, 2019 |
MMP13 | 1 | Sep 1, 2021 |
MSN | 1 | May 8, 2019 |
MTM1 | 1 | Jun 24, 2020 |
MVK | 4 | Oct 15, 2019 |
MYBPC3 | 153 | May 8, 2019 |
MYCN | 1 | Sep 1, 2021 |
MYH11 | 23 | May 8, 2019 |
MYH6 | 25 | May 8, 2019 |
MYH7 | 112 | May 8, 2019 |
MYL2 | 7 | May 8, 2019 |
MYL3 | 10 | May 8, 2019 |
MYLK | 7 | Jan 15, 2016 |
MYLK-AS1 | 1 | Jan 15, 2016 |
MYLK2 | 2 | Jan 15, 2016 |
MYO7A | 45 | Oct 15, 2019 |
MYOM1 | 10 | Jan 15, 2016 |
MYPN | 12 | Jan 15, 2016 |
NBN | 1 | May 8, 2019 |
NCAPH2 | 1 | Jan 15, 2016 |
NCF1 | 3 | May 8, 2019 |
NCF2 | 2 | May 8, 2019 |
NDE1 | 7 | May 8, 2019 |
NEBL | 6 | Jan 15, 2016 |
NEK1 | 2 | Sep 1, 2021 |
NEXN | 10 | Jan 15, 2016 |
NF1 | 10 | Sep 1, 2021 |
NFKB1 | 9 | May 8, 2019 |
NFKB2 | 4 | May 8, 2019 |
NFKBIA | 2 | May 8, 2019 |
NIPBL | 3 | Sep 1, 2021 |
NLRC4 | 2 | May 8, 2019 |
NLRP1 | 3 | May 8, 2019 |
NLRP12 | 3 | May 8, 2019 |
NLRP3 | 2 | May 8, 2019 |
NMNAT1 | 8 | Oct 15, 2019 |
NOD2 | 1 | May 8, 2019 |
NOTCH1 | 27 | May 8, 2019 |
NOTCH2 | 2 | Sep 1, 2021 |
NOVA2 | 1 | Nov 30, 2021 |
NPHP3 | 4 | May 8, 2019 |
NPHP3-ACAD11 | 4 | May 8, 2019 |
NPHP4 | 7 | Oct 15, 2019 |
NPHS1 | 11 | Jan 15, 2016 |
NPHS2 | 3 | Jan 15, 2016 |
NPR2 | 7 | Sep 1, 2021 |
NR2E3 | 27 | Oct 15, 2019 |
NRAS | 1 | May 8, 2019 |
NRL | 6 | Oct 15, 2019 |
NSUN6 | 6 | Jan 15, 2016 |
NT5DC1 | 9 | Sep 1, 2021 |
NYX | 7 | Oct 15, 2019 |
OAT | 3 | Oct 15, 2019 |
OBSL1 | 7 | Sep 1, 2021 |
ODAD1 | 1 | May 8, 2019 |
OFD1 | 2 | Oct 15, 2019 |
OPA1 | 7 | Oct 15, 2019 |
OPA1-AS1 | 1 | Oct 15, 2019 |
OTX2 | 2 | Oct 15, 2019 |
OXTR | 1 | Jan 15, 2016 |
PARN | 1 | May 8, 2019 |
PAX2 | 3 | Oct 15, 2019 |
PCARE | 18 | Oct 15, 2019 |
PCDH15 | 4 | Oct 15, 2019 |
PCDH19 | 1 | Jul 23, 2020 |
PDE4D | 2 | Sep 1, 2021 |
PDE6A | 28 | Oct 15, 2019 |
PDE6B | 40 | Oct 15, 2019 |
PDE6B-AS1 | 12 | Oct 15, 2019 |
PDE6C | 9 | Oct 15, 2019 |
PDE6G | 1 | Oct 15, 2019 |
PDLIM3 | 3 | Jan 15, 2016 |
PEX1 | 5 | Oct 15, 2019 |
PEX6 | 2 | Oct 15, 2019 |
PGGHG | 1 | Sep 1, 2021 |
PGM3 | 2 | Sep 1, 2021 |
PHF3 | 17 | Oct 15, 2019 |
PHYH | 4 | Oct 15, 2019 |
PIGT | 1 | Jul 23, 2020 |
PIK3CD | 8 | May 8, 2019 |
PIK3R1 | 1 | May 8, 2019 |
PITPNM3 | 5 | Oct 15, 2019 |
PKD1 | 92 | May 8, 2019 |
PKD1-AS1 | 10 | May 8, 2019 |
PKD2 | 20 | May 8, 2019 |
PKHD1 | 45 | May 8, 2019 |
PKP2 | 25 | May 8, 2019 |
PLCG2 | 6 | May 8, 2019 |
PLN | 3 | Jan 15, 2016 |
PNP | 3 | May 8, 2019 |
PNPLA6 | 2 | Oct 15, 2019 |
POC1A | 2 | Sep 1, 2021 |
POC1B | 2 | Oct 15, 2019 |
POLE | 3 | May 8, 2019 |
POLR1C | 2 | Sep 1, 2021 |
PPP1CB | 1 | May 8, 2019 |
PPT1 | 1 | Jul 23, 2020 |
PRCD | 2 | Oct 15, 2019 |
PRDM13 | 2 | Oct 15, 2019 |
PRDM16 | 2 | May 8, 2019 |
PRF1 | 1 | May 8, 2019 |
PRKAG2 | 11 | May 8, 2019 |
PRKAR1A | 2 | Sep 1, 2021 |
PRKCSH | 1 | May 8, 2019 |
PRKDC | 6 | May 8, 2019 |
PRKG1 | 3 | Jan 15, 2016 |
PROM1 | 36 | Oct 15, 2019 |
PRPF3 | 10 | Oct 15, 2019 |
PRPF31 | 47 | Oct 15, 2019 |
PRPF31-AS1 | 28 | Oct 15, 2019 |
PRPF4 | 4 | Oct 15, 2019 |
PRPF6 | 4 | Apr 9, 2021 |
PRPF8 | 22 | Oct 15, 2019 |
PRPH2 | 58 | Oct 15, 2019 |
PRPS1 | 2 | Oct 15, 2019 |
PRSS23 | 2 | Oct 15, 2019 |
PSEN2 | 1 | Feb 2, 2015 |
PTPN11 | 29 | Sep 1, 2021 |
PTPRC | 3 | May 8, 2019 |
PUF60 | 2 | Sep 1, 2021 |
RAB27A | 1 | May 8, 2019 |
RAB28 | 3 | Oct 15, 2019 |
RAF1 | 19 | May 8, 2019 |
RAG1 | 9 | May 8, 2019 |
RAG2 | 2 | May 8, 2019 |
RAX2 | 10 | Oct 15, 2019 |
RBM20 | 25 | May 8, 2019 |
RBP3 | 5 | Oct 15, 2019 |
RDH12 | 28 | Oct 15, 2019 |
RDH5 | 5 | Oct 15, 2019 |
RECQL4 | 2 | Sep 1, 2021 |
REEP6 | 2 | Oct 15, 2019 |
RFX5 | 4 | May 8, 2019 |
RFXANK | 3 | May 8, 2019 |
RFXAP | 2 | May 8, 2019 |
RHO | 47 | Oct 15, 2019 |
RIC3 | 1 | Oct 15, 2019 |
RILP | 1 | Oct 15, 2019 |
RIMS1 | 12 | Oct 15, 2019 |
RIT1 | 4 | May 8, 2019 |
RLBP1 | 4 | Oct 15, 2019 |
RLIG1 | 3 | Oct 15, 2019 |
RMRP | 2 | Sep 1, 2021 |
RNASEH2A | 1 | May 8, 2019 |
RNASEH2B | 1 | Jul 23, 2020 |
RNASEH2C | 2 | May 8, 2019 |
RNF31 | 1 | May 8, 2019 |
RNU4ATAC | 7 | Sep 1, 2021 |
ROM1 | 3 | Oct 15, 2019 |
RP1 | 50 | Oct 15, 2019 |
RP1L1 | 30 | Oct 15, 2019 |
RP2 | 20 | May 26, 2022 |
RPE65 | 20 | Oct 6, 2022 |
RPGR | 228 | Apr 12, 2022 |
RPGRIP1 | 13 | Oct 15, 2019 |
RPGRIP1L | 4 | Oct 15, 2019 |
RPL36A-HNRNPH2 | 9 | May 8, 2019 |
RRAS | 1 | May 8, 2019 |
RS1 | 28 | Oct 15, 2019 |
RTEL1 | 2 | May 8, 2019 |
RTEL1-TNFRSF6B | 2 | May 8, 2019 |
RYR2 | 55 | Jan 15, 2016 |
SAG | 6 | Oct 15, 2019 |
SAMD9 | 1 | May 8, 2019 |
SAMHD1 | 3 | May 8, 2019 |
SBDS | 2 | May 8, 2019 |
SCN1A | 3 | Jul 23, 2020 |
SCN1A-AS1 | 1 | May 8, 2019 |
SCN1B | 2 | Jan 15, 2016 |
SCN2A | 2 | Jul 23, 2020 |
SCN3B | 2 | Jan 15, 2016 |
SCN4B | 1 | Aug 28, 2014 |
SCN5A | 52 | May 8, 2019 |
SCN9A | 1 | May 8, 2019 |
SCO2 | 1 | Jan 15, 2016 |
SDHA | 1 | Jan 15, 2016 |
SEC63 | 2 | May 8, 2019 |
SEMA4A | 4 | Oct 15, 2019 |
SERPINF1 | 1 | Sep 1, 2021 |
SGMS2 | 1 | Sep 1, 2021 |
SH2D1A | 1 | May 8, 2019 |
SHOC2 | 2 | Jan 15, 2016 |
SHOX | 4 | Sep 1, 2021 |
SIX5 | 1 | May 8, 2019 |
SKI | 6 | May 8, 2019 |
SLC19A1 | 1 | Oct 15, 2019 |
SLC19A3 | 1 | Jul 23, 2020 |
SLC24A1 | 4 | Oct 15, 2019 |
SLC26A2 | 4 | Sep 1, 2021 |
SLC29A3 | 1 | May 8, 2019 |
SLC2A10 | 1 | Jan 15, 2016 |
SLC34A3 | 1 | Sep 1, 2021 |
SLC6A8 | 1 | Jul 23, 2020 |
SLC7A14 | 2 | Oct 15, 2019 |
SLC7A14-AS1 | 2 | Oct 15, 2019 |
SLC7A9 | 1 | May 8, 2019 |
SLMAP | 1 | Jan 15, 2016 |
SMAD3 | 13 | May 8, 2019 |
SNRNP200 | 29 | Oct 15, 2019 |
SNTA1 | 5 | Jan 15, 2016 |
SOS1 | 19 | May 8, 2019 |
SOS2 | 1 | May 8, 2019 |
SOX9 | 6 | Sep 1, 2021 |
SPAG8 | 1 | Sep 1, 2021 |
SPATA7 | 2 | Oct 15, 2019 |
SPINK5 | 1 | May 8, 2019 |
SPRED1 | 2 | May 8, 2019 |
STAT2 | 5 | May 8, 2019 |
STAT3 | 8 | May 8, 2019 |
STAT5B | 2 | May 8, 2019 |
STIM1 | 2 | May 8, 2019 |
STING1 | 2 | May 8, 2019 |
STXBP1 | 2 | Jul 23, 2020 |
STXBP2 | 1 | May 8, 2019 |
SYN3 | 4 | Oct 15, 2019 |
SYNE1 | 2 | Jan 15, 2016 |
SYNE2 | 5 | Jan 15, 2016 |
SYNGAP1 | 1 | Jul 23, 2020 |
SYNGAP1-AS1 | 1 | Jul 23, 2020 |
TAF10 | 6 | Jan 15, 2016 |
TAFAZZIN | 1 | Jan 15, 2016 |
TAP1 | 1 | May 8, 2019 |
TAP2 | 1 | May 8, 2019 |
TAPBP | 2 | May 8, 2019 |
TBX1 | 1 | May 8, 2019 |
TBX5 | 1 | May 8, 2019 |
TCAP | 3 | Jan 15, 2016 |
TCF3 | 2 | May 8, 2019 |
TEAD3 | 1 | Oct 15, 2019 |
TERC | 1 | May 8, 2019 |
TERT | 2 | May 8, 2019 |
TGFB2 | 10 | May 8, 2019 |
TGFB3 | 6 | May 8, 2019 |
TGFBR1 | 14 | May 8, 2019 |
TGFBR2 | 13 | May 8, 2019 |
THBD | 2 | May 8, 2019 |
TIMP3 | 4 | Oct 15, 2019 |
TINF2 | 1 | May 8, 2019 |
TLDC2 | 1 | May 8, 2019 |
TMEM43 | 7 | Jan 15, 2016 |
TMPO | 3 | Feb 2, 2015 |
TMPO-AS1 | 1 | Feb 2, 2015 |
TNFAIP3 | 1 | May 8, 2019 |
TNFRSF13B | 6 | May 8, 2019 |
TNNC1 | 2 | May 8, 2019 |
TNNI3 | 17 | May 8, 2019 |
TNNI3K | 2 | May 8, 2019 |
TNNT2 | 24 | May 8, 2019 |
TOPORS | 9 | Oct 15, 2019 |
TP63 | 1 | Sep 1, 2021 |
TPM1 | 21 | May 8, 2019 |
TPM1-AS | 1 | Jan 15, 2016 |
TPP1 | 2 | Jul 23, 2020 |
TRIM63 | 5 | Jan 15, 2016 |
TRIP11 | 1 | Sep 1, 2021 |
TRPC6 | 1 | Jan 15, 2016 |
TRPM1 | 7 | Oct 15, 2019 |
TRPM4 | 11 | Jan 15, 2016 |
TRPS1 | 5 | Sep 1, 2021 |
TRPV4 | 7 | Sep 1, 2021 |
TSC1 | 1 | Jul 23, 2020 |
TSFM | 2 | Jan 15, 2016 |
TSPAN12 | 2 | Oct 15, 2019 |
TTC21B | 6 | Sep 1, 2021 |
TTC21B-AS1 | 1 | Oct 15, 2019 |
TTC8 | 4 | Oct 15, 2019 |
TTLL5 | 9 | Oct 15, 2019 |
TTN | 117 | May 8, 2019 |
TTN-AS1 | 75 | May 8, 2019 |
TTR | 2 | May 8, 2019 |
TUB | 1 | Oct 15, 2019 |
TULP1 | 20 | Oct 15, 2019 |
TXNRD2 | 10 | Jan 15, 2016 |
TYK2 | 2 | May 8, 2019 |
TYMP | 1 | Jan 15, 2016 |
UBE3A | 3 | Jul 23, 2020 |
UMOD | 1 | May 8, 2019 |
UNC119 | 1 | May 8, 2019 |
USH1C | 3 | Oct 15, 2019 |
USH2A | 353 | Sep 2, 2022 |
USH2A-AS1 | 25 | Oct 15, 2019 |
USH2A-AS2 | 21 | Sep 2, 2022 |
VCAN | 5 | Oct 15, 2019 |
VCAN-AS1 | 2 | Oct 15, 2019 |
VCL | 7 | May 8, 2019 |
WDR19 | 9 | Oct 15, 2019 |
WNT1 | 1 | Sep 1, 2021 |
WNT5A | 2 | Sep 1, 2021 |
WT1 | 4 | Jan 15, 2016 |
XIAP | 2 | May 8, 2019 |
XYLT1 | 1 | Sep 1, 2021 |
ZAP70 | 4 | May 8, 2019 |
ZDHHC24 | 8 | Oct 15, 2019 |
ZEB2 | 1 | Jul 23, 2020 |
ZFYVE26 | 13 | Oct 15, 2019 |
ZNF408 | 1 | Oct 15, 2019 |
ZNF454 | 6 | Oct 15, 2019 |
ZNF513 | 2 | Oct 15, 2019 |
Condition
Testing in GTR
Disease name | Number of tests |
---|---|
3-M syndrome | 2 tests |
AICA-ribosiduria | 1 test |
Abnormality of neuronal migration | 1 test |
Achromatopsia | 1 test |
Acromesomelic dysplasia 1, Maroteaux type | 1 test |
Acromesomelic dysplasia 2C, Hunter-Thompson type | 1 test |
Acute pancreatitis | 1 test |
Adams-Oliver syndrome | 2 tests |
Adenine phosphoribosyltransferase deficiency | 1 test |
Adenylosuccinate lyase deficiency | 1 test |
Aganglionic megacolon | 2 tests |
Aicardi Goutieres syndrome | 2 tests |
Alpha-1-antitrypsin deficiency | 2 tests |
Alport syndrome | 3 tests |
Alstrom syndrome | 1 test |
Alternating hemiplegia of childhood | 1 test |
Alveolar capillary dysplasia with pulmonary venous misalignment | 1 test |
Amelogenesis imperfecta hypomaturation type 2A2 | 1 test |
Amelogenesis imperfecta hypomaturation type 2A3 | 1 test |
Amelogenesis imperfecta hypomaturation type 2A5 | 1 test |
Amelogenesis imperfecta type 1E | 1 test |
Amelogenesis imperfecta type 1H | 1 test |
Amelogenesis imperfecta type 2A1 | 1 test |
Amelogenesis imperfecta, hypomaturation type, IIa6 | 1 test |
Amyotrophic lateral sclerosis | 1 test |
Androgen resistance syndrome | 1 test |
Anophthalmia | 1 test |
Anterior segment anomalies with or without cataract | 1 test |
Aortic aneurysm | 1 test |
Arginase deficiency | 1 test |
Arrhythmogenic right ventricular cardiomyopathy | 4 tests |
Arterial tortuosity | 1 test |
Arterial tortuosity syndrome | 1 test |
Arteriohepatic dysplasia | 2 tests |
Arthrogryposis, distal, type 1A | 1 test |
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 1 test |
Ataxia-telangiectasia syndrome | 1 test |
Atrial fibrillation | 1 test |
Atrial septal defect | 1 test |
Atypical hemolytic-uremic syndrome | 1 test |
Autism spectrum disorder | 1 test |
Autosomal dominant Robinow syndrome 1 | 1 test |
Autosomal dominant polycystic kidney disease | 3 tests |
Autosomal dominant polycystic liver disease | 1 test |
Autosomal recessive polycystic kidney disease | 2 tests |
Autosomal recessive spinocerebellar ataxia 10 | 1 test |
Bardet-Biedl syndrome | 3 tests |
Bartter syndrome | 2 tests |
Bernard Soulier syndrome | 2 tests |
Bethlem myopathy | 1 test |
Bietti crystalline corneoretinal dystrophy | 1 test |
Bilateral frontoparietal polymicrogyria | 1 test |
Biotinidase deficiency | 1 test |
Birt-Hogg-Dube syndrome | 3 tests |
Bloom syndrome | 2 tests |
Brachydactyly | 1 test |
Branchiootorenal syndrome 1 | 3 tests |
Brugada syndrome | 3 tests |
Carcinoma of pancreas | 1 test |
Cardiac arrhythmia | 1 test |
Cardio-facio-cutaneous syndrome | 1 test |
Cardiomyopathy | 1 test |
Carney complex | 1 test |
Cataract | 1 test |
Catecholaminergic polymorphic ventricular tachycardia | 3 tests |
Cerebellar ataxia | 1 test |
Cerebral cavernous malformation | 2 tests |
Cerebral creatine deficiency syndrome | 2 tests |
Charcot-Marie-Tooth disease | 1 test |
Cholestasis, intrahepatic, of pregnancy, 3 | 1 test |
Cholesteryl ester storage disease | 1 test |
Chondrodysplasia punctata | 1 test |
Choroideremia | 1 test |
Chronic granulomatous disease | 1 test |
Chronic infantile neurological, cutaneous and articular syndrome | 1 test |
Chronic pancreatitis | 1 test |
Chédiak-Higashi syndrome | 1 test |
Citrullinemia type II | 1 test |
Cleft lip/palate | 1 test |
Cobalamin deficiency | 1 test |
Cockayne syndrome | 1 test |
Coenzyme Q10 deficiency, primary, 1 | 1 test |
Cohen syndrome | 1 test |
Colorectal cancer | 1 test |
Cone-rod dystrophy | 1 test |
Congenital adrenal hyperplasia | 2 tests |
Congenital central hypoventilation | 1 test |
Congenital contractural arachnodactyly | 1 test |
Congenital defect of folate absorption | 1 test |
Congenital diarrhea 5 with tufting enteropathy | 1 test |
Congenital disorder of deglycosylation | 1 test |
Congenital disorder of glycosylation | 3 tests |
Congenital generalized lipodystrophy | 3 tests |
Congenital glucose-galactose malabsorption | 1 test |
Congenital hepatic fibrosis | 1 test |
Congenital hypothyroidism | 1 test |
Congenital ichthyosiform erythroderma | 1 test |
Congenital lactase deficiency | 1 test |
Congenital microvillous atrophy | 1 test |
Congenital muscular dystrophy | 1 test |
Congenital myasthenic syndrome | 1 test |
Congenital neutropenia | 1 test |
Congenital secretory diarrhea, chloride type | 1 test |
Congenital secretory sodium diarrhea 3 | 1 test |
Congenital stationary night blindness | 1 test |
Corneal dystrophy | 1 test |
Costello syndrome | 1 test |
Cranioectodermal dysplasia | 1 test |
Craniometadiaphyseal dysplasia wormian bone type | 1 test |
Craniosynostosis syndrome | 1 test |
Crigler-Najjar syndrome type 1 | 1 test |
Crigler-Najjar syndrome, type II | 1 test |
Crouzon syndrome | 1 test |
Cutis laxa | 2 tests |
Cutis laxa, autosomal dominant 1 | 1 test |
Cyclical neutropenia | 1 test |
Cystic fibrosis | 4 tests |
Cystinuria | 3 tests |
De Lange syndrome | 2 tests |
Deficiency of beta-ureidopropionase | 1 test |
Deficiency of galactokinase | 2 tests |
Dementia | 1 test |
Dent disease | 1 test |
Dentinogenesis imperfecta type 2 | 1 test |
Diamond-Blackfan anemia | 3 tests |
Diarrhea with Microvillus Atrophy | 1 test |
Disorder of fatty acid metabolism | 1 test |
Disorder of organic acid metabolism | 2 tests |
Disorder of the urea cycle metabolism | 2 tests |
Distal myopathy | 1 test |
Dubin-Johnson syndrome | 1 test |
Dyskeratosis congenita | 1 test |
Dystonic disorder | 1 test |
Ebstein anomaly | 1 test |
Ectopia lentis | 1 test |
Ehlers-Danlos syndrome | 2 tests |
Elliptocytosis | 1 test |
Ellis-van Creveld syndrome | 1 test |
Emery-Dreifuss muscular dystrophy | 1 test |
Epidermolysis bullosa | 1 test |
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 1 test |
Epileptic encephalopathy | 1 test |
Fabry disease | 1 test |
Familial Mediterranean fever | 1 test |
Familial adenomatous polyposis 1 | 1 test |
Familial amyloid nephropathy with urticaria AND deafness | 1 test |
Familial aplasia of the vermis | 3 tests |
Familial cancer of breast | 1 test |
Familial cold autoinflammatory syndrome 2 | 1 test |
Familial cold autoinflammatory syndrome 3 | 1 test |
Familial hemiplegic migraine | 1 test |
Familial hemophagocytic lymphohistiocytosis | 1 test |
Familial hyperinsulinism | 1 test |
Familial hypokalemia-hypomagnesemia | 1 test |
Familial medullary thyroid carcinoma | 1 test |
Familial pancreatic carcinoma | 1 test |
Familial partial lipodystrophy | 2 tests |
Familial thoracic aortic aneurysm and aortic dissection | 1 test |
Fanconi anemia | 4 tests |
Female pseudohermaphroditism | 1 test |
Fluorouracil response | 1 test |
Focal epilepsy | 2 tests |
Frontotemporal dementia | 1 test |
Galactosemia | 2 tests |
Ganglioneuroma | 1 test |
Gaucher disease | 1 test |
Generalized epilepsy | 2 tests |
Generalized juvenile polyposis/juvenile polyposis coli | 1 test |
Genetic predisposition | 4 tests |
Gilbert syndrome | 1 test |
Glanzmann thrombasthenia | 2 tests |
Glaucoma | 1 test |
Glomuvenous malformation | 1 test |
Glucocorticoid deficiency 1 | 1 test |
Glycogen storage disease | 4 tests |
Glycogen storage disease, type II | 1 test |
Gorlin syndrome | 1 test |
Gray platelet syndrome | 1 test |
Grebe syndrome | 1 test |
Griscelli syndrome | 1 test |
Growth abnormality | 1 test |
Haddad syndrome | 1 test |
Hemochromatosis type 1 | 1 test |
Hemochromatosis type 2A | 1 test |
Hemochromatosis type 2B | 1 test |
Hemochromatosis type 3 | 1 test |
Hemochromatosis type 4 | 1 test |
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | 1 test |
Hemolytic-uremic syndrome | 1 test |
Hemophilia | 1 test |
Hereditary acrodermatitis enteropathica | 1 test |
Hereditary breast ovarian cancer syndrome | 1 test |
Hereditary cancer-predisposing syndrome | 1 test |
Hereditary cryohydrocytosis with reduced stomatin | 1 test |
Hereditary diffuse gastric adenocarcinoma | 1 test |
Hereditary disease | 4 tests |
Hereditary episodic ataxia | 1 test |
Hereditary factor IX deficiency disease | 1 test |
Hereditary factor VIII deficiency disease | 1 test |
Hereditary fructosuria | 2 tests |
Hereditary hemochromatosis | 2 tests |
Hereditary hemorrhagic telangiectasia type 3 | 1 test |
Hereditary leiomyomatosis and renal cell cancer | 1 test |
Hereditary palmoplantar keratoderma | 1 test |
Hereditary pheochromocytoma-paraganglioma | 3 tests |
Hereditary pulmonary alveolar proteinosis | 1 test |
Hereditary spherocytosis | 1 test |
Hereditary von Willebrand disease | 1 test |
Hereditary xanthinuria type 1 | 1 test |
Hermansky-Pudlak syndrome | 4 tests |
Hidrotic ectodermal dysplasia syndrome | 1 test |
Holoprosencephaly sequence | 1 test |
Holt-Oram syndrome | 1 test |
Homocystinuria | 2 tests |
Hoyeraal-Hreidarsson syndrome | 1 test |
Hurler syndrome | 1 test |
Hutchinson-Gilford syndrome | 1 test |
Hypercholesterolemia, familial, 1 | 2 tests |
Hyperimmunoglobulin D with periodic fever | 1 test |
Hyperoxaluria | 2 tests |
Hyperparathyroidism | 1 test |
Hyperphenylalaninemia | 1 test |
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency | 1 test |
Hypertrophic cardiomyopathy | 3 tests |
Hypogonadism with anosmia | 1 test |
Hypohidrotic ectodermal dysplasia | 1 test |
Hypomagnesemia, seizures, and intellectual disability 1 | 1 test |
Hypophosphatasia | 1 test |
Hypophosphatemic rickets | 2 tests |
Hypoplastic left heart syndrome 1 | 1 test |
Infantile onset spinocerebellar ataxia | 1 test |
Infertility disorder | 1 test |
Inherited bone marrow failure syndrome | 2 tests |
Interstitial lung disease 2 | 2 tests |
Intestinal atresia | 1 test |
Intestinal hypomagnesemia 1 | 1 test |
Jawad syndrome | 1 test |
Jeune thoracic dystrophy | 1 test |
Junctional epidermolysis bullosa, non-Herlitz type | 1 test |
Juvenile hemochromatosis | 1 test |
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 1 test |
Juvenile retinoschisis | 1 test |
Kabuki syndrome | 1 test |
Lafora disease | 1 test |
Lamellar ichthyosis | 1 test |
Leber congenital amaurosis | 1 test |
Left ventricular noncompaction | 3 tests |
Lesch-Nyhan syndrome | 1 test |
Leukemia | 2 tests |
Leukodystrophy | 1 test |
Leukoencephalopathy | 1 test |
Li-Fraumeni syndrome | 3 tests |
Liddle syndrome 1 | 1 test |
Limb-girdle muscular dystrophy | 1 test |
Lissencephaly | 1 test |
Loeys-Dietz syndrome | 1 test |
Long QT syndrome | 3 tests |
Lung carcinoma | 1 test |
Lymphangiomyomatosis | 1 test |
Lymphatic malformation | 1 test |
Lymphoproliferative disorder | 1 test |
Lynch syndrome | 2 tests |
Macrocephaly | 1 test |
Macular dystrophy | 1 test |
Male pseudohermaphroditism | 1 test |
Maple syrup urine disease | 1 test |
Marfan syndrome | 1 test |
Maturity onset diabetes mellitus in young | 1 test |
Meckel-Gruber syndrome | 2 tests |
Medium-chain acyl-coenzyme A dehydrogenase deficiency | 1 test |
Medulloblastoma | 1 test |
Meier-Gorlin syndrome | 3 tests |
Melanoma | 1 test |
Metabolic myopathy | 1 test |
Metaphyseal anadysplasia 2 | 1 test |
Metaphyseal chondrodysplasia | 1 test |
Metaphyseal chondrodysplasia, Schmid type | 1 test |
Methylmalonic acidemia | 1 test |
Microcephalic osteodysplastic primordial dwarfism type II | 1 test |
Microcephalic osteodysplastic primordial dwarfism, type 3 | 1 test |
Microcephaly | 1 test |
Microcephaly, normal intelligence and immunodeficiency | 1 test |
Microcephaly-capillary malformation syndrome | 1 test |
Microphthalmia | 1 test |
Miller syndrome | 1 test |
Mitochondrial DNA depletion syndrome 1 | 1 test |
Mitochondrial DNA depletion syndrome 11 | 1 test |
Mitochondrial DNA depletion syndrome 13 | 1 test |
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | 1 test |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 1 test |
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 1 test |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 1 test |
Mitochondrial DNA depletion syndrome, myopathic form | 1 test |
Mucolipidosis type II | 1 test |
Mucolipidosis type IV | 1 test |
Mucopolysaccharidosis | 1 test |
Multiple acyl-CoA dehydrogenase deficiency | 1 test |
Multiple congenital exostosis | 1 test |
Multiple endocrine neoplasia | 3 tests |
Muscle AMP deaminase deficiency | 1 test |
Muscular dystrophy | 1 test |
Nemaline myopathy | 1 test |
Neonatal diabetes mellitus | 1 test |
Neoplasm of the skin | 1 test |
Nephrogenic diabetes insipidus | 1 test |
Nephrolithiasis/nephrocalcinosis | 1 test |
Nephronophthisis | 1 test |
Nephrotic syndrome | 1 test |
Neuroblastoma | 1 test |
Neurofibroma | 1 test |
Neurofibromatosis, type 1 | 1 test |
Neurofibromatosis, type 2 | 1 test |
Neuronal ceroid lipofuscinosis | 1 test |
Niemann-Pick disease, type A | 2 tests |
Niemann-Pick disease, type B | 2 tests |
Niemann-Pick disease, type C | 2 tests |
Niemann-Pick disease, type D | 1 test |
Non-ketotic hyperglycinemia | 2 tests |
Non-syndromic X-linked intellectual disability | 1 test |
Nonsyndromic genetic hearing loss | 2 tests |
Noonan syndrome | 3 tests |
Noonan syndrome with multiple lentigines | 1 test |
Nystagmus | 1 test |
Obesity | 1 test |
Oculocutaneous albinism | 1 test |
Olmsted syndrome 1 | 1 test |
Optic atrophy | 2 tests |
Ornithine carbamoyltransferase deficiency | 1 test |
Oroticaciduria | 1 test |
Osteodysplastic primordial dwarfism, type 1 | 1 test |
Osteogenesis imperfecta | 1 test |
Osteopetrosis | 1 test |
POLG-related disorder | 1 test |
Pachyonychia congenita syndrome | 2 tests |
Palmoplantar keratoderma, punctate type 1A | 1 test |
Papillary renal cell carcinoma type 1 | 1 test |
Parkinson disease | 1 test |
Paroxysmal atrial fibrillation | 1 test |
Pendred syndrome | 3 tests |
Periodic paralysis | 1 test |
Permanent atrial fibrillation | 1 test |
Peroxisome biogenesis disorder 1A (Zellweger) | 2 tests |
Peroxisome biogenesis disorder 2B | 1 test |
Peroxisome biogenesis disorder type 3B | 1 test |
Peutz-Jeghers syndrome | 2 tests |
Phenylketonuria | 2 tests |
Pontoneocerebellar hypoplasia | 1 test |
Porphyria | 1 test |
Premature ovarian failure | 1 test |
Primary ciliary dyskinesia | 5 tests |
Primary dilated cardiomyopathy | 3 tests |
Primary hypomagnesemia | 1 test |
Progressive external ophthalmoplegia | 1 test |
Progressive familial intrahepatic cholestasis type 1 | 1 test |
Progressive myoclonic epilepsy | 2 tests |
Progressive sclerosing poliodystrophy | 1 test |
Prolactin-producing pituitary gland adenoma | 1 test |
Propionic acidemia | 1 test |
Pseudo-Hurler polydystrophy | 1 test |
Pseudohypoaldosteronism | 1 test |
Pulmonary artery stenosis | 1 test |
Pulmonary venoocclusive disease 1 | 1 test |
Purine-nucleoside phosphorylase deficiency | 1 test |
Pyle metaphyseal dysplasia | 1 test |
Pyridoxine-dependent epilepsy | 1 test |
Renal cyst | 4 tests |
Renal dysplasia and retinal aplasia | 2 tests |
Renal hypomagnesemia 2 | 1 test |
Renal hypomagnesemia 4 | 1 test |
Renal hypomagnesemia 5 with ocular involvement | 1 test |
Renal hypomagnesemia 6 | 1 test |
Renal tubular acidosis | 1 test |
Renal tubular dysgenesis | 1 test |
Respiratory distress syndrome in premature infants | 1 test |
Restrictive cardiomyopathy | 3 tests |
Retinal dystrophy | 1 test |
Retinitis pigmentosa | 1 test |
Retinitis pigmentosa-deafness syndrome | 3 tests |
Retinoblastoma | 2 tests |
Revesz syndrome | 1 test |
Rhabdomyolysis | 1 test |
Rhizomelic chondrodysplasia punctata | 1 test |
Rothmund-Thomson syndrome | 1 test |
Seckel syndrome | 3 tests |
Sensorineural hearing loss disorder | 2 tests |
Septo-optic dysplasia sequence | 1 test |
Severe combined immunodeficiency disease | 2 tests |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 1 test |
Severe short stature | 1 test |
Short QT syndrome | 3 tests |
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 1 test |
Shprintzen-Goldberg syndrome | 1 test |
Sialidosis type 2 | 1 test |
Sialuria | 1 test |
Simpson-Golabi-Behmel syndrome type 1 | 1 test |
Sitosterolemia | 1 test |
Skeletal dysplasia | 3 tests |
Spastic paraplegia | 1 test |
Spinal muscular atrophy | 1 test |
Split hand-foot malformation 1 with sensorineural hearing loss | 1 test |
Spondylometaphyseal dysplasia, Kozlowski type | 1 test |
Stickler syndrome | 3 tests |
Stomatocytosis | 1 test |
Succinate-semialdehyde dehydrogenase deficiency | 1 test |
Sucrase-isomaltase deficiency | 1 test |
Sudden cardiac death | 2 tests |
Supravalvar aortic stenosis | 1 test |
Syndactyly | 1 test |
TNF receptor-associated periodic fever syndrome (TRAPS) | 1 test |
Telangiectasia, hereditary hemorrhagic, type 1 | 2 tests |
Telangiectasia, hereditary hemorrhagic, type 2 | 1 test |
Tetralogy of Fallot | 1 test |
Thiopurine S-methyltransferase deficiency | 1 test |
Thrombocytopenia | 1 test |
Thyroid hormone resistance syndrome | 1 test |
Trichohepatoenteric syndrome | 1 test |
Tuberous sclerosis syndrome | 4 tests |
Tyrosinemia type I | 2 tests |
Tyrosinemia type II | 1 test |
Tyrosinemia type III | 1 test |
UDPglucose-4-epimerase deficiency | 2 tests |
Ullrich congenital muscular dystrophy | 1 test |
Ventricular septal defect | 1 test |
Visceral heterotaxy | 1 test |
Vitreoretinopathy | 1 test |
Von Hippel-Lindau syndrome | 4 tests |
Waardenburg syndrome | 4 tests |
Weill-Marchesani syndrome | 1 test |
Werner syndrome | 1 test |
Wilms tumor 1 | 1 test |
Wilson disease | 1 test |
Wiskott-Aldrich syndrome | 1 test |
Wolman disease | 1 test |
Xanthinuria type II | 1 test |
Xeroderma pigmentosum | 1 test |
von Willebrand disease type 1 | 1 test |