Myriad Genetics, Inc.
General information
Myriad Genetics, Inc.
322 North 2200 West
Salt Lake City
Utah
United States - 84116
https://myriad.com/
Organization ID: 507240
322 North 2200 West
Salt Lake City
Utah
United States - 84116
https://myriad.com/
Organization ID: 507240
Personnel
- Krista Moyer, Genetic Counselor
Phone: 8882686795
Email: variantquestions@myriad.com - Erin Mundt, Genetic Counselor
Phone: 8015843506
Email: variantquestions@myriad.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 27709
Gene
Gene | Submissions | Last Updated |
---|---|---|
ABCC8 | 42 | Nov 17, 2022 |
ABCD1 | 7 | Nov 17, 2022 |
ACADM | 15 | Nov 17, 2022 |
ACADS | 10 | Nov 17, 2022 |
ACADVL | 31 | Nov 17, 2022 |
ACYP1 | 1 | Jan 15, 2022 |
ADA | 18 | Nov 17, 2022 |
ADAMTS2 | 22 | Nov 17, 2022 |
AGA | 2 | Jan 15, 2022 |
AGL | 75 | Nov 17, 2022 |
AGXT | 20 | Nov 17, 2022 |
AIRE | 18 | Nov 17, 2022 |
ALDH3A2 | 18 | Nov 17, 2022 |
ALDOB | 15 | Nov 17, 2022 |
ALG6 | 15 | Nov 17, 2022 |
ALMS1 | 58 | Nov 17, 2022 |
ALPL | 16 | Nov 17, 2022 |
AMT | 2 | Nov 17, 2022 |
AOPEP | 11 | Nov 17, 2022 |
APBB1 | 2 | Jan 15, 2020 |
APC | 3597 | Nov 21, 2024 |
ARG1 | 11 | Nov 17, 2022 |
ARSA | 14 | Nov 17, 2022 |
ASL | 25 | Nov 17, 2022 |
ASPA | 10 | Nov 17, 2022 |
ASS1 | 11 | Nov 17, 2022 |
ATM | 4257 | Nov 21, 2024 |
ATP7A | 61 | Nov 17, 2022 |
ATP7B | 64 | Nov 17, 2022 |
AXDND1 | 3 | Nov 17, 2022 |
AXIN2 | 836 | Nov 21, 2024 |
BAP1 | 584 | Nov 21, 2024 |
BARD1 | 1151 | Nov 21, 2024 |
BBS1 | 18 | Nov 17, 2022 |
BBS10 | 4 | Nov 17, 2022 |
BBS2 | 35 | Nov 17, 2022 |
BCHE | 2 | Nov 17, 2022 |
BCKDHA | 17 | Nov 17, 2022 |
BCKDHB | 17 | Nov 17, 2022 |
BCS1L | 11 | Nov 17, 2022 |
BLM | 5 | Nov 17, 2022 |
BMPR1A | 561 | Nov 21, 2024 |
BRCA1 | 188 | Nov 21, 2024 |
BRCA2 | 295 | Nov 21, 2024 |
BRIP1 | 1516 | Nov 21, 2024 |
BTD | 10 | Nov 17, 2022 |
C11orf65 | 1583 | Nov 21, 2024 |
CAPN3 | 22 | Nov 17, 2022 |
CARD14 | 1 | Jun 18, 2020 |
CBS | 22 | Nov 17, 2022 |
CCDC107 | 1 | Jun 18, 2020 |
CDH1 | 1321 | Nov 21, 2024 |
CDK4 | 322 | Nov 21, 2024 |
CDKL5 | 1 | Jun 18, 2020 |
CDKN2A | 49 | Nov 21, 2024 |
CFTR | 149 | Nov 17, 2022 |
CFTR-AS1 | 16 | Nov 17, 2022 |
CHEK2 | 558 | Nov 21, 2024 |
CHM | 7 | Nov 17, 2022 |
CLN3 | 10 | Nov 17, 2022 |
CLN5 | 2 | Nov 17, 2022 |
CLN6 | 7 | Nov 17, 2022 |
CLN8 | 2 | Nov 17, 2022 |
CLRN1 | 2 | Nov 17, 2022 |
CLRN1-AS1 | 1 | Jun 18, 2020 |
CNGB3 | 16 | Nov 17, 2022 |
COL4A3 | 81 | Nov 17, 2022 |
COL4A4 | 75 | Nov 17, 2022 |
COL4A5 | 70 | Nov 17, 2022 |
CP | 6 | Nov 17, 2022 |
CPS1 | 66 | Nov 17, 2022 |
CPT1A | 16 | Nov 17, 2022 |
CPT2 | 8 | Nov 17, 2022 |
CTNNA1 | 64 | Nov 21, 2024 |
CTNS | 7 | Nov 17, 2022 |
CTNS-AS1 | 6 | Nov 17, 2022 |
CTSK | 14 | Nov 17, 2022 |
CYP11B1 | 15 | Nov 17, 2022 |
CYP21A2 | 8 | Jun 18, 2020 |
CYP27A1 | 21 | Nov 17, 2022 |
DBT | 21 | Nov 17, 2022 |
DCTN5 | 1 | Jul 25, 2023 |
DHCR7 | 24 | Nov 17, 2022 |
DHDDS | 1 | Jun 18, 2020 |
DHFR | 10 | Dec 21, 2023 |
DLD | 20 | Nov 17, 2022 |
DMD | 61 | Nov 17, 2022 |
DNAH1 | 1 | Jul 25, 2023 |
DNAH5 | 191 | Nov 17, 2022 |
DVL2 | 2 | Nov 17, 2022 |
DYSF | 97 | Nov 17, 2022 |
EGFR | 1 | Mar 2, 2023 |
EGFR-AS1 | 1 | Mar 2, 2023 |
ELP1 | 48 | Nov 17, 2022 |
ERCC6 | 65 | Nov 17, 2022 |
ERCC8 | 13 | Nov 17, 2022 |
ERCC8-AS1 | 2 | Oct 30, 2020 |
EVC | 48 | Nov 17, 2022 |
EVC2 | 45 | Nov 17, 2022 |
F11 | 16 | Nov 17, 2022 |
FAH | 14 | Nov 17, 2022 |
FANCA | 43 | Nov 17, 2022 |
FANCC | 21 | Nov 17, 2022 |
FBXL3 | 1 | Jun 18, 2020 |
FH | 95 | Nov 21, 2024 |
FKRP | 1 | Jun 18, 2020 |
FKTN | 13 | Nov 17, 2022 |
FLCN | 122 | Nov 21, 2024 |
G6PC1 | 11 | Nov 17, 2022 |
GAA | 32 | Nov 17, 2022 |
GALC | 21 | Nov 17, 2022 |
GALK1 | 17 | Nov 17, 2022 |
GALT | 33 | Nov 17, 2022 |
GAREM2 | 9 | Nov 17, 2022 |
GATAD1 | 13 | Nov 17, 2022 |
GBA1 | 9 | Jun 18, 2020 |
GBE1 | 1 | Jan 15, 2020 |
GCDH | 16 | Nov 17, 2022 |
GJB2 | 22 | Nov 17, 2022 |
GLA | 4 | Nov 17, 2022 |
GLB1 | 15 | Nov 17, 2022 |
GLDC | 60 | Nov 17, 2022 |
GNE | 20 | Nov 17, 2022 |
GNPTAB | 66 | Nov 17, 2022 |
GNPTG | 9 | Nov 17, 2022 |
GRHPR | 12 | Nov 17, 2022 |
HADHA | 23 | Nov 17, 2022 |
HBA1 | 1 | Jun 18, 2020 |
HBA2 | 1 | Jun 18, 2020 |
HBB | 27 | Jun 18, 2020 |
HEXA | 40 | Nov 17, 2022 |
HEXA-AS1 | 1 | Jan 15, 2020 |
HEXB | 26 | Nov 17, 2022 |
HFE | 2 | Jun 18, 2020 |
HFE-AS1 | 1 | Jun 18, 2020 |
HGD | 9 | Nov 17, 2022 |
HGSNAT | 25 | Nov 17, 2022 |
HLCS | 40 | Nov 17, 2022 |
HMGCL | 9 | Nov 17, 2022 |
HOGA1 | 4 | Nov 17, 2022 |
HOXB13 | 1 | Jul 25, 2023 |
HPS3 | 35 | Nov 17, 2022 |
HSD17B4 | 29 | Nov 17, 2022 |
HYLS1 | 1 | Jan 15, 2020 |
IDS | 9 | Nov 17, 2022 |
IDUA | 27 | Nov 17, 2022 |
IL2RG | 6 | Nov 17, 2022 |
IVD | 14 | Nov 17, 2022 |
KIRREL2 | 11 | Nov 17, 2022 |
LAMA2 | 165 | Nov 17, 2022 |
LAMA3 | 2 | Nov 17, 2022 |
LAMB3 | 56 | Nov 17, 2022 |
LAMC2 | 42 | Nov 17, 2022 |
LIPA | 16 | Nov 17, 2022 |
LOC106050102 | 6 | Nov 17, 2022 |
LOC106099062 | 22 | Jun 18, 2020 |
LOC106627981 | 7 | Jun 18, 2020 |
LOC106780800 | 8 | Jun 18, 2020 |
LOC106799833 | 15 | Nov 17, 2022 |
LOC106804612 | 1 | Jun 18, 2020 |
LOC107133510 | 27 | Jun 18, 2020 |
LOC107303340 | 23 | Nov 21, 2024 |
LOC107303343 | 3 | Nov 17, 2022 |
LOC107457585 | 1 | Nov 17, 2022 |
LOC110006319 | 6 | Jun 18, 2020 |
LOC110121471 | 1 | Nov 17, 2022 |
LOC111413029 | 2 | Nov 17, 2022 |
LOC111674472 | 10 | Nov 17, 2022 |
LOC111674475 | 12 | Nov 17, 2022 |
LOC112486223 | 2 | Nov 17, 2022 |
LOC113633877 | 1 | Jun 18, 2020 |
LOC113664106 | 1 | Jun 18, 2020 |
LOC117125594 | 4 | Nov 17, 2022 |
LOC122152296 | 12 | Nov 17, 2022 |
LOC123864065 | 4 | Nov 17, 2022 |
LOC123956210 | 4 | Nov 17, 2022 |
LOC125446261 | 2 | Jan 15, 2022 |
LOC126806252 | 2 | Nov 17, 2022 |
LOC126806373 | 1 | Nov 17, 2022 |
LOC126806961 | 6 | Nov 17, 2022 |
LOC126807318 | 7 | Nov 17, 2022 |
LOC126807437 | 8 | Apr 22, 2024 |
LOC126859690 | 8 | Nov 17, 2022 |
LOC126860438 | 1 | Nov 17, 2022 |
LOC126860933 | 4 | Nov 17, 2022 |
LOC126861339 | 3 | Apr 22, 2024 |
LOC126861615 | 3 | Nov 17, 2022 |
LOC126862097 | 1 | Nov 17, 2022 |
LOC126862264 | 2 | Jun 18, 2020 |
LOC126862571 | 18 | Nov 21, 2024 |
LOC126862860 | 2 | Nov 17, 2022 |
LOC129390903 | 20 | Apr 22, 2024 |
LOC129391064 | 3 | Nov 17, 2022 |
LOC129929542 | 2 | Dec 21, 2023 |
LOC129930446 | 1 | Nov 17, 2022 |
LOC129930561 | 2 | Nov 17, 2022 |
LOC129933707 | 9 | Dec 21, 2023 |
LOC129992144 | 4 | Nov 17, 2022 |
LOC129992585 | 1 | Nov 17, 2022 |
LOC129994460 | 1 | Jun 18, 2020 |
LOC129998796 | 1 | Nov 17, 2022 |
LOC130001603 | 4 | Jul 25, 2023 |
LOC130001683 | 3 | Nov 17, 2022 |
LOC130008148 | 28 | Nov 21, 2024 |
LOC130009366 | 1 | Nov 17, 2022 |
LOC130056921 | 1 | Nov 17, 2022 |
LOC130058158 | 2 | Nov 17, 2022 |
LOC130059837 | 1 | Nov 17, 2022 |
LOC130060903 | 1 | Nov 17, 2022 |
LOC130061310 | 3 | Apr 22, 2024 |
LOC130062899 | 13 | Apr 22, 2024 |
LOC130063376 | 1 | Nov 17, 2022 |
LOC130063648 | 2 | Oct 30, 2020 |
LOC132089454 | 1 | Nov 17, 2022 |
LOC132090450 | 2 | Nov 17, 2022 |
LOXHD1 | 24 | Nov 17, 2022 |
LRPPRC | 54 | Nov 17, 2022 |
MAN2B1 | 53 | Nov 17, 2022 |
MCOLN1 | 12 | Nov 17, 2022 |
MED23 | 10 | Nov 17, 2022 |
MEFV | 5 | Jun 18, 2020 |
MEN1 | 46 | Nov 21, 2024 |
MET | 1 | Jul 25, 2023 |
MFF-DT | 81 | Nov 17, 2022 |
MIR6753 | 1 | Nov 17, 2022 |
MIR6759 | 10 | Nov 21, 2024 |
MKS1 | 19 | Nov 17, 2022 |
MLC1 | 18 | Nov 17, 2022 |
MLH1 | 904 | Nov 21, 2024 |
MMAA | 11 | Nov 17, 2022 |
MMAB | 3 | Nov 17, 2022 |
MMACHC | 8 | Nov 17, 2022 |
MMUT | 28 | Nov 17, 2022 |
MPL | 32 | Nov 17, 2022 |
MSH2 | 1066 | Nov 21, 2024 |
MSH3 | 268 | Nov 21, 2024 |
MSH6 | 1234 | Nov 21, 2024 |
MTHFR | 1 | Jan 15, 2020 |
MTM1 | 23 | Nov 17, 2022 |
MTTP | 48 | Nov 17, 2022 |
MUTYH | 17 | Nov 21, 2024 |
MYO7A | 93 | Nov 17, 2022 |
NAGLU | 8 | Nov 17, 2022 |
NBN | 19 | Nov 17, 2022 |
NDUFAF2 | 1 | Jun 18, 2020 |
NEB | 204 | Nov 17, 2022 |
NICN1 | 1 | Jan 15, 2022 |
NPC1 | 60 | Nov 17, 2022 |
NPC2 | 14 | Nov 17, 2022 |
NPHS1 | 42 | Nov 17, 2022 |
NPHS2 | 12 | Nov 17, 2022 |
NR2E3 | 2 | Nov 17, 2022 |
NTHL1 | 80 | Nov 21, 2024 |
OPA3 | 1 | Jun 18, 2020 |
OTC | 7 | Nov 17, 2022 |
PAH | 44 | Nov 17, 2022 |
PALB2 | 952 | Nov 21, 2024 |
PC | 38 | Nov 17, 2022 |
PCCA | 20 | Nov 17, 2022 |
PCCB | 11 | Nov 17, 2022 |
PCDH15 | 47 | Nov 17, 2022 |
PEX1 | 55 | Nov 17, 2022 |
PEX10 | 6 | Nov 17, 2022 |
PEX12 | 3 | Nov 17, 2022 |
PEX2 | 1 | Jun 18, 2020 |
PEX6 | 20 | Nov 17, 2022 |
PEX7 | 15 | Nov 17, 2022 |
PFKM | 23 | Nov 17, 2022 |
PGBD3 | 8 | Nov 17, 2022 |
PHYH | 6 | Nov 17, 2022 |
PKHD1 | 125 | Nov 17, 2022 |
PMM2 | 23 | Nov 17, 2022 |
PMS2 | 523 | Nov 21, 2024 |
POLD1 | 19 | Apr 22, 2024 |
POLE | 19 | Apr 22, 2024 |
POMGNT1 | 23 | Nov 17, 2022 |
PPT1 | 6 | Nov 17, 2022 |
PROP1 | 2 | Jun 18, 2020 |
PTEN | 443 | Jul 18, 2024 |
PTS | 1 | Nov 17, 2022 |
PUS3 | 1 | Jan 15, 2020 |
RAD51C | 192 | Nov 21, 2024 |
RAD51D | 164 | Nov 21, 2024 |
RAD51L3-RFFL | 164 | Nov 21, 2024 |
RET | 105 | Nov 21, 2024 |
RIF1 | 35 | Nov 17, 2022 |
RMRP | 1 | Jun 18, 2020 |
RPL36A-HNRNPH2 | 4 | Nov 17, 2022 |
RS1 | 2 | Nov 17, 2022 |
SACS | 28 | Nov 17, 2022 |
SDHA | 144 | Nov 21, 2024 |
SDHB | 52 | Nov 21, 2024 |
SDHC | 31 | Nov 21, 2024 |
SDHD | 11 | Jul 18, 2024 |
SERPINA1 | 3 | Nov 17, 2022 |
SGCA | 9 | Nov 17, 2022 |
SGCB | 5 | Nov 17, 2022 |
SGCD | 1 | Nov 17, 2022 |
SGCG | 4 | Nov 17, 2022 |
SGSH | 12 | Nov 17, 2022 |
SLC12A6 | 33 | Nov 17, 2022 |
SLC17A5 | 14 | Nov 17, 2022 |
SLC22A5 | 13 | Nov 17, 2022 |
SLC26A1 | 4 | Nov 17, 2022 |
SLC26A11 | 1 | Jun 18, 2020 |
SLC26A2 | 17 | Nov 17, 2022 |
SLC26A4 | 46 | Nov 17, 2022 |
SLC26A4-AS1 | 5 | Nov 17, 2022 |
SLC37A4 | 4 | Nov 17, 2022 |
SMAD4 | 80 | Nov 21, 2024 |
SMPD1 | 16 | Nov 17, 2022 |
SPATA22 | 10 | Nov 17, 2022 |
STAR | 16 | Nov 17, 2022 |
STK11 | 142 | Nov 21, 2024 |
SYCE2 | 2 | Nov 17, 2022 |
TAT | 9 | Nov 17, 2022 |
TAT-AS1 | 4 | Nov 17, 2022 |
TCIRG1 | 13 | Nov 17, 2022 |
TGM1 | 24 | Nov 17, 2022 |
TH | 14 | Nov 17, 2022 |
TMEM216 | 1 | Jun 18, 2020 |
TNXB | 2 | Jun 18, 2020 |
TP53 | 469 | Nov 21, 2024 |
TPP1 | 18 | Nov 17, 2022 |
TSC1 | 92 | Nov 21, 2024 |
TSC2 | 234 | Nov 21, 2024 |
TSPAN1 | 16 | Nov 17, 2022 |
TSPAN31 | 120 | Nov 21, 2024 |
TTPA | 6 | Nov 17, 2022 |
USH1C | 18 | Nov 17, 2022 |
USH2A | 96 | Nov 17, 2022 |
USH2A-AS1 | 15 | Nov 17, 2022 |
USH2A-AS2 | 3 | Nov 17, 2022 |
VHL | 58 | Nov 21, 2024 |
VPS13B | 33 | Nov 17, 2022 |
XPA | 1 | Nov 17, 2022 |
XPC | 3 | Nov 17, 2022 |
ZDHHC24 | 12 | Nov 17, 2022 |
ZFYVE26 | 100 | Nov 17, 2022 |
ZNF276 | 2 | Jan 15, 2022 |
Condition
Testing in GTR
Disease name | Number of tests |
---|---|
3-Methylglutaconic aciduria type 3 | 2 tests |
4p partial monosomy syndrome | 1 test |
5p partial monosomy syndrome | 1 test |
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 1 test |
ALG6-congenital disorder of glycosylation 1C | 1 test |
AXIN2-related attenuated familial adenomatous polyposis | 2 tests |
Achondrogenesis, type IB | 1 test |
Achromatopsia | 1 test |
Adrenoleukodystrophy | 1 test |
Agenesis of the corpus callosum with peripheral neuropathy | 2 tests |
Alkaptonuria | 1 test |
Alpha-1-antitrypsin deficiency | 1 test |
Alstrom syndrome | 1 test |
Angelman syndrome | 1 test |
Arginase deficiency | 1 test |
Argininosuccinate lyase deficiency | 1 test |
Aspartylglucosaminuria | 2 tests |
Ataxia-telangiectasia syndrome | 2 tests |
Autosomal dominant nonsyndromic hearing loss 11 | 1 test |
Autosomal recessive Alport syndrome | 2 tests |
Autosomal recessive DOPA responsive dystonia | 2 tests |
Autosomal recessive congenital ichthyosis 1 | 1 test |
Autosomal recessive distal spinal muscular atrophy 1 | 1 test |
Autosomal recessive distal spinal muscular atrophy 2 | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2A | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2C | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2D | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2E | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2F | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2I | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2M | 1 test |
Autosomal recessive nonsyndromic hearing loss 18A | 1 test |
Autosomal recessive nonsyndromic hearing loss 1A | 2 tests |
Autosomal recessive nonsyndromic hearing loss 2 | 1 test |
Autosomal recessive nonsyndromic hearing loss 23 | 1 test |
Autosomal recessive osteopetrosis 1 | 1 test |
Autosomal recessive polycystic kidney disease | 2 tests |
BAP1-related tumor predisposition syndrome | 2 tests |
Bardet-Biedl syndrome 1 | 2 tests |
Bardet-Biedl syndrome 10 | 2 tests |
Bardet-Biedl syndrome 12 | 1 test |
Bardet-Biedl syndrome 13 | 1 test |
Bardet-Biedl syndrome 2 | 1 test |
Becker muscular dystrophy | 1 test |
Bifunctional peroxisomal enzyme deficiency | 2 tests |
Biotinidase deficiency | 2 tests |
Birt-Hogg-Dube syndrome | 2 tests |
Bloom syndrome | 2 tests |
Breast neoplasm | 4 tests |
Breast-ovarian cancer, familial, susceptibility to, 1 | 1 test |
Carcinoma of colon | 1 test |
Carnitine palmitoyl transferase 1A deficiency | 2 tests |
Carnitine palmitoyltransferase II deficiency | 2 tests |
Ceroid lipofuscinosis, neuronal, 6A | 1 test |
Cetuximab response | 1 test |
Charlevoix-Saguenay spastic ataxia | 2 tests |
Cholestanol storage disease | 1 test |
Choroideremia | 1 test |
Chromosome 1p36 deletion syndrome | 1 test |
Citrullinemia type I | 2 tests |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 1 test |
Classic homocystinuria | 2 tests |
Cobalamin C disease | 1 test |
Cockayne syndrome type 1 | 1 test |
Cockayne syndrome type 2 | 1 test |
Cohen syndrome | 2 tests |
Colorectal carcinoma | 1 test |
Complete trisomy 13 syndrome | 1 test |
Complete trisomy 20 syndrome | 1 test |
Congenital adrenal hyperplasia | 2 tests |
Congenital adrenal hypoplasia, X-linked | 1 test |
Congenital hyperammonemia, type I | 1 test |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 1 test |
Congenital lipoid adrenal hyperplasia due to STAR deficency | 1 test |
Cutis laxa, X-linked | 1 test |
Cystic fibrosis | 3 tests |
Cystinosis | 1 test |
Dabrafenib response | 1 test |
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2 tests |
Deficiency of alpha-mannosidase | 2 tests |
Deficiency of butyryl-CoA dehydrogenase | 2 tests |
Deficiency of butyrylcholinesterase | 1 test |
Deficiency of galactokinase | 1 test |
Deficiency of hydroxymethylglutaryl-CoA lyase | 1 test |
Deficiency of steroid 11-beta-monooxygenase | 1 test |
Diastrophic dysplasia | 1 test |
Dihydropyrimidine dehydrogenase deficiency | 1 test |
Dilated cardiomyopathy 1L | 1 test |
Dilated cardiomyopathy 3B | 1 test |
Distal monosomy 10p | 1 test |
Double Y syndrome | 1 test |
Down syndrome | 1 test |
Duchenne muscular dystrophy | 1 test |
Dyskeratosis congenita, autosomal recessive 5 | 1 test |
EGFR inhibitors response | 1 test |
EGFR-related lung cancer | 2 tests |
Ellis-van Creveld syndrome | 2 tests |
Endometrial carcinoma | 2 tests |
Erlotinib response | 1 test |
Fabry disease | 1 test |
Factor V deficiency | 1 test |
Familial Mediterranean fever | 2 tests |
Familial adenomatous polyposis 1 | 3 tests |
Familial adenomatous polyposis 2 | 2 tests |
Familial cancer of breast | 1 test |
Familial colorectal cancer | 2 tests |
Familial dysautonomia | 2 tests |
Familial hyperinsulinism | 1 test |
Familial idiopathic steroid-resistant nephrotic syndrome | 1 test |
Familial isolated deficiency of vitamin E | 2 tests |
Familial medullary thyroid carcinoma | 2 tests |
Familial melanoma | 2 tests |
Familial pancreatic carcinoma | 2 tests |
Familial prostate cancer | 2 tests |
Fanconi anemia complementation group A | 1 test |
Fanconi anemia complementation group C | 2 tests |
Finnish congenital nephrotic syndrome | 2 tests |
Fragile X syndrome | 2 tests |
Fulvestrant response | 1 test |
GM1 gangliosidosis type 2 | 1 test |
GM1 gangliosidosis type 3 | 1 test |
GNE myopathy | 2 tests |
GNPTG-mucolipidosis | 1 test |
GRACILE syndrome | 2 tests |
Galactosylceramide beta-galactosidase deficiency | 2 tests |
Gaucher disease | 1 test |
Gaucher disease perinatal lethal | 1 test |
Gaucher disease type II | 1 test |
Gaucher disease type III | 1 test |
Gefitinib response | 1 test |
Glucose-6-phosphate transport defect | 2 tests |
Glutaric aciduria, type 1 | 2 tests |
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2 tests |
Glycogen storage disease type III | 2 tests |
Glycogen storage disease, type II | 2 tests |
Glycogen storage disease, type V | 1 test |
Hb SS disease | 2 tests |
Hemoglobin H disease, nondeletional | 1 test |
Hereditary Paraganglioma-Pheochromacytoma Syndrome | 1 test |
Hereditary breast ovarian cancer syndrome | 4 tests |
Hereditary diffuse gastric adenocarcinoma | 2 tests |
Hereditary factor XI deficiency disease | 1 test |
Hereditary fructosuria | 2 tests |
Hereditary hemochromatosis | 1 test |
Hereditary leiomyomatosis and renal cell cancer | 2 tests |
Hereditary nonpolyposis colon cancer | 3 tests |
Hereditary papillary renal cell carcinoma | 2 tests |
Hereditary pheochromocytoma-paraganglioma | 1 test |
Hereditary spastic paraplegia 15 | 1 test |
Holocarboxylase synthetase deficiency | 1 test |
Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 1 test |
Hurler syndrome | 1 test |
Hydrolethalus syndrome | 1 test |
Hyperinsulinemic hypoglycemia, familial, 1 | 2 tests |
Hypophosphatasia | 2 tests |
Infantile GM1 gangliosidosis | 1 test |
Isovaleryl-CoA dehydrogenase deficiency | 2 tests |
Joubert syndrome 2 | 2 tests |
Junctional epidermolysis bullosa gravis of Herlitz | 4 tests |
Junctional epidermolysis bullosa, non-Herlitz type | 3 tests |
Juvenile polyposis syndrome | 2 tests |
Juvenile retinoschisis | 2 tests |
Klinefelter syndrome | 1 test |
Lapatinib response | 1 test |
Li-Fraumeni syndrome | 2 tests |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 1 test |
Lysosomal acid lipase deficiency | 1 test |
MPI-congenital disorder of glycosylation | 2 tests |
Malignant tumor of breast | 1 test |
Malignant tumor of prostate | 1 test |
Maple syrup urine disease type 1A | 1 test |
Maple syrup urine disease type 1B | 2 tests |
Maple syrup urine disease type 2 | 1 test |
Meckel-Gruber syndrome | 1 test |
Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 tests |
Megalencephalic leukoencephalopathy with subcortical cysts | 2 tests |
Megalencephalic leukoencephalopathy with subcortical cysts 1 | 1 test |
Melanoma-pancreatic cancer syndrome | 2 tests |
Menkes kinky-hair syndrome | 1 test |
Merosin deficient congenital muscular dystrophy | 2 tests |
Metachromatic leukodystrophy | 2 tests |
Metaphyseal chondrodysplasia, McKusick type | 2 tests |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 1 test |
Methylmalonic aciduria, cblA type | 1 test |
Methylmalonic aciduria, cblB type | 1 test |
Microcephaly, normal intelligence and immunodeficiency | 2 tests |
Mitochondrial trifunctional protein deficiency | 1 test |
Miyoshi muscular dystrophy 1 | 1 test |
Mosaic trisomy 1 | 1 test |
Mosaic trisomy 2 | 1 test |
Mosaic trisomy 3 | 1 test |
Motor axonal neuropathy | 1 test |
Mucolipidosis type II | 1 test |
Mucolipidosis type IV | 2 tests |
Mucopolysaccharidosis type 1 | 1 test |
Mucopolysaccharidosis, MPS-II | 1 test |
Mucopolysaccharidosis, MPS-III-A | 1 test |
Mucopolysaccharidosis, MPS-III-B | 1 test |
Mucopolysaccharidosis, MPS-III-C | 1 test |
Mucopolysaccharidosis, MPS-IV-B | 1 test |
Multiple endocrine neoplasia | 1 test |
Multiple endocrine neoplasia, type 1 | 1 test |
Multiple endocrine neoplasia, type 2 | 1 test |
Multiple epiphyseal dysplasia type 4 | 1 test |
Muscle eye brain disease | 4 tests |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1 test |
Nemaline myopathy 2 | 2 tests |
Nephropathic cystinosis | 1 test |
Nephrotic syndrome, type 2 | 1 test |
Neuronal ceroid lipofuscinosis 1 | 2 tests |
Neuronal ceroid lipofuscinosis 2 | 2 tests |
Neuronal ceroid lipofuscinosis 3 | 2 tests |
Neuronal ceroid lipofuscinosis 5 | 2 tests |
Neuronal ceroid lipofuscinosis 8 | 1 test |
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | 2 tests |
Neuronopathy, distal hereditary motor, autosomal recessive 3 | 1 test |
Neuronopathy, distal hereditary motor, autosomal recessive 4 | 1 test |
Neuronopathy, distal hereditary motor, autosomal recessive 5 | 1 test |
Niemann-Pick disease, type A | 2 tests |
Niemann-Pick disease, type B | 2 tests |
Niemann-Pick disease, type C | 1 test |
Niemann-Pick disease, type C1 | 1 test |
Niemann-Pick disease, type C2 | 1 test |
Non-ketotic hyperglycinemia | 2 tests |
Olaparib response | 2 tests |
Ornithine carbamoyltransferase deficiency | 1 test |
Ovarian cancer | 1 test |
Ovarian epithelial cancer | 1 test |
Ovarian neoplasm | 1 test |
PMM2-congenital disorder of glycosylation | 2 tests |
PTEN hamartoma tumor syndrome | 2 tests |
Pancreatic cancer, adult | 1 test |
Panitumumab response | 1 test |
Pearson syndrome | 1 test |
Pemigatinib response | 1 test |
Pendred syndrome | 2 tests |
Peroxisome biogenesis disorder | 1 test |
Peroxisome biogenesis disorder 1A (Zellweger) | 2 tests |
Peroxisome biogenesis disorder 1B | 1 test |
Peroxisome biogenesis disorder 3A (Zellweger) | 1 test |
Peroxisome biogenesis disorder 4A (Zellweger) | 1 test |
Peroxisome biogenesis disorder 4B | 1 test |
Peroxisome biogenesis disorder 5A (Zellweger) | 1 test |
Peroxisome biogenesis disorder 5B | 1 test |
Peroxisome biogenesis disorder 6A (Zellweger) | 1 test |
Peroxisome biogenesis disorder 6B | 1 test |
Peroxisome biogenesis disorder 9B | 1 test |
Pertuzumab response | 1 test |
Peutz-Jeghers syndrome | 2 tests |
Phenylketonuria | 2 tests |
Phytanic acid storage disease | 1 test |
Pituitary hormone deficiency, combined, 2 | 2 tests |
Polyglandular autoimmune syndrome, type 1 | 2 tests |
Polymerase proofreading-related adenomatous polyposis | 2 tests |
Polyposis syndrome, hereditary mixed, 1 | 2 tests |
Prader-Willi syndrome | 1 test |
Primary hyperoxaluria type 3 | 1 test |
Primary hyperoxaluria, type I | 2 tests |
Primary hyperoxaluria, type II | 2 tests |
Propionic acidemia | 2 tests |
Prostate cancer, somatic | 1 test |
Pseudo-Hurler polydystrophy | 1 test |
Pyknodysostosis | 2 tests |
Pyruvate carboxylase deficiency | 1 test |
Pyruvate dehydrogenase E3 deficiency | 2 tests |
Qualitative or quantitative defects of beta-sarcoglycan | 1 test |
Qualitative or quantitative defects of delta-sarcoglycan | 1 test |
Qualitative or quantitative defects of dysferlin | 1 test |
Qualitative or quantitative defects of dystrophin | 1 test |
Renal carnitine transport defect | 2 tests |
Retinitis pigmentosa 39 | 1 test |
Rhizomelic chondrodysplasia punctata type 1 | 2 tests |
Salla disease | 2 tests |
Sandhoff disease | 1 test |
Severe X-linked myotubular myopathy | 1 test |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 1 test |
Sjögren-Larsson syndrome | 2 tests |
Smith-Lemli-Opitz syndrome | 2 tests |
Spinal muscular atrophy | 2 tests |
Spondylocostal dysostosis | 1 test |
Spondylocostal dysostosis 1, autosomal recessive | 1 test |
Spondylocostal dysostosis 2, autosomal recessive | 1 test |
Spongy degeneration of central nervous system | 2 tests |
Sulfate transporter-related osteochondrodysplasia | 2 tests |
Tay-Sachs disease | 2 tests |
Thrombophilia | 1 test |
Thrombophilia due to activated protein C resistance | 1 test |
Trastuzumab emtansine response | 1 test |
Trastuzumab response | 1 test |
Trisomy 11 mosaicism | 1 test |
Trisomy 18 | 1 test |
Trisomy 6 | 1 test |
Trisomy 8 | 1 test |
Trisomy 9 | 1 test |
Trisomy X syndrome | 1 test |
Tuberous sclerosis syndrome | 2 tests |
Turner syndrome | 1 test |
Tyrosinemia type I | 2 tests |
Tyrosinemia type II | 1 test |
Usher syndrome type 1 | 1 test |
Usher syndrome type 1C | 1 test |
Usher syndrome type 1F | 2 tests |
Usher syndrome type 2A | 1 test |
Usher syndrome type 3 | 2 tests |
Vemurafenib response | 1 test |
Very long chain acyl-CoA dehydrogenase deficiency | 1 test |
Von Hippel-Lindau syndrome | 2 tests |
Walker-Warburg congenital muscular dystrophy | 3 tests |
Wilson disease | 2 tests |
Wolman disease | 1 test |
X-linked Alport syndrome | 1 test |
X-linked severe combined immunodeficiency | 1 test |
Xeroderma pigmentosum group A | 1 test |
Xeroderma pigmentosum, group C | 1 test |
alpha Thalassemia | 1 test |
beta Thalassemia | 2 tests |