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: 15099
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 | 1549 | Dec 21, 2023 |
| 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 | 126 | Dec 21, 2023 |
| ATP7A | 61 | Nov 17, 2022 |
| ATP7B | 64 | Nov 17, 2022 |
| AXDND1 | 3 | Nov 17, 2022 |
| AXIN2 | 40 | Dec 21, 2023 |
| BAP1 | 42 | Dec 21, 2023 |
| BARD1 | 375 | Dec 21, 2023 |
| 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 | 101 | Dec 21, 2023 |
| BRCA1 | 119 | Dec 21, 2023 |
| BRCA2 | 185 | Dec 21, 2023 |
| BRIP1 | 583 | Dec 21, 2023 |
| BTD | 10 | Nov 17, 2022 |
| C11orf65 | 56 | Dec 21, 2023 |
| CAPN3 | 22 | Nov 17, 2022 |
| CARD14 | 1 | Jun 18, 2020 |
| CBS | 22 | Nov 17, 2022 |
| CCDC107 | 1 | Jun 18, 2020 |
| CDH1 | 402 | Dec 21, 2023 |
| CDK4 | 11 | Jul 25, 2023 |
| CDKL5 | 1 | Jun 18, 2020 |
| CDKN2A | 47 | Oct 25, 2023 |
| CFTR | 149 | Nov 17, 2022 |
| CFTR-AS1 | 16 | Nov 17, 2022 |
| CHEK2 | 543 | Dec 21, 2023 |
| 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 | 45 | Dec 21, 2023 |
| 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 |
| 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 | 55 | Dec 21, 2023 |
| FKRP | 1 | Jun 18, 2020 |
| FKTN | 13 | Nov 17, 2022 |
| FLCN | 60 | Dec 21, 2023 |
| 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 | 10 | Dec 21, 2023 |
| 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 | 7 | Dec 21, 2023 |
| LOC126859690 | 8 | Nov 17, 2022 |
| LOC126860438 | 1 | Nov 17, 2022 |
| LOC126860933 | 4 | Nov 17, 2022 |
| LOC126861339 | 2 | Dec 21, 2023 |
| LOC126861615 | 3 | Nov 17, 2022 |
| LOC126862097 | 1 | Nov 17, 2022 |
| LOC126862264 | 2 | Jun 18, 2020 |
| LOC126862571 | 9 | Dec 21, 2023 |
| LOC126862860 | 2 | Nov 17, 2022 |
| LOC129390903 | 3 | Jul 25, 2023 |
| 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 | 1 | Jul 25, 2023 |
| 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 | 2 | Jul 25, 2023 |
| LOC130062899 | 10 | Jul 25, 2023 |
| 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 | 30 | Dec 21, 2023 |
| MET | 1 | Jul 25, 2023 |
| MFF-DT | 81 | Nov 17, 2022 |
| MIR6753 | 1 | Nov 17, 2022 |
| MKS1 | 19 | Nov 17, 2022 |
| MLC1 | 18 | Nov 17, 2022 |
| MLH1 | 885 | Apr 22, 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 | 1041 | Apr 22, 2024 |
| MSH3 | 248 | Dec 21, 2023 |
| MSH6 | 1189 | Jan 2, 2024 |
| MTHFR | 1 | Jan 15, 2020 |
| MTM1 | 23 | Nov 17, 2022 |
| MTTP | 48 | Nov 17, 2022 |
| MUTYH | 10 | Dec 21, 2023 |
| 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 | 67 | Dec 21, 2023 |
| OPA3 | 1 | Jun 18, 2020 |
| OTC | 7 | Nov 17, 2022 |
| PAH | 44 | Nov 17, 2022 |
| PALB2 | 909 | Apr 22, 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 | 500 | Dec 21, 2023 |
| POLD1 | 17 | Jul 25, 2023 |
| POLE | 17 | Jul 25, 2023 |
| POMGNT1 | 23 | Nov 17, 2022 |
| PPT1 | 6 | Nov 17, 2022 |
| PROP1 | 2 | Jun 18, 2020 |
| PTEN | 438 | Apr 22, 2024 |
| PTS | 1 | Nov 17, 2022 |
| PUS3 | 1 | Jan 15, 2020 |
| RAD51C | 67 | Apr 22, 2024 |
| RAD51D | 73 | Dec 21, 2023 |
| RAD51L3-RFFL | 73 | Dec 21, 2023 |
| RET | 67 | Dec 21, 2023 |
| 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 | 87 | Dec 21, 2023 |
| SDHB | 29 | Dec 21, 2023 |
| SDHC | 14 | Apr 22, 2024 |
| SDHD | 5 | Dec 21, 2023 |
| 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 | 35 | Dec 21, 2023 |
| SMPD1 | 16 | Nov 17, 2022 |
| SPATA22 | 10 | Nov 17, 2022 |
| STAR | 16 | Nov 17, 2022 |
| STK11 | 100 | Jul 25, 2023 |
| 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 | 84 | Dec 21, 2023 |
| TPP1 | 18 | Nov 17, 2022 |
| TSC1 | 15 | Dec 21, 2023 |
| TSC2 | 20 | Dec 21, 2023 |
| TSPAN1 | 16 | Nov 17, 2022 |
| TSPAN31 | 4 | Jul 25, 2023 |
| 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 | 21 | Dec 21, 2023 |
| 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 |
| Complete trisomy 21 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 |
| 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 carcinoma | 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 |
| Neoplasm of ovary | 1 test |
| 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 |
| 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 |