Quest Diagnostics Nichols Institute San Juan Capistrano
General information
Quest Diagnostics Nichols Institute San Juan Capistrano
33608 Ortega Highway
San Juan Capistrano
California
United States - 92675-2042
http://www.questdiagnostics.com/
Organization ID: 500110
33608 Ortega Highway
San Juan Capistrano
California
United States - 92675-2042
http://www.questdiagnostics.com/
Organization ID: 500110
Personnel
- Izabela Karbassi, Contact
Phone: 774-843-3231
Email: Izabela.X.Karbassi@QuestDiagnostics.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 20268
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| A-GAMMA3'E | 1 | Dec 29, 2021 |
| ABL1 | 1 | Aug 16, 2018 |
| ACADM | 25 | Dec 28, 2022 |
| ADAMTS12 | 1 | Dec 28, 2022 |
| ADAMTS17 | 1 | Aug 16, 2018 |
| ADAMTS18 | 1 | Dec 28, 2022 |
| ADAMTS3 | 1 | Jul 31, 2020 |
| ADAMTSL1 | 1 | Dec 28, 2022 |
| ADCY2 | 1 | Aug 16, 2018 |
| ADGRL3 | 2 | Feb 10, 2022 |
| ADGRV1 | 5 | Dec 28, 2022 |
| AFAP1 | 1 | Aug 28, 2019 |
| AFF2 | 1 | Aug 16, 2018 |
| AFF3 | 1 | Aug 28, 2019 |
| AFG2A | 4 | Feb 10, 2022 |
| AGAP1 | 5 | Feb 10, 2022 |
| AGBL1 | 1 | Jul 31, 2020 |
| AGBL4 | 12 | Dec 28, 2022 |
| AGMO | 4 | Feb 10, 2022 |
| AHI1 | 1 | Aug 28, 2019 |
| ALK | 1 | Aug 28, 2019 |
| ANK2 | 1 | Aug 16, 2018 |
| ANKRD11 | 4 | Jul 31, 2020 |
| ANKS1B | 7 | Dec 28, 2022 |
| ANO10 | 1 | Aug 28, 2019 |
| ANO3 | 1 | Jul 31, 2020 |
| AOPEP | 12 | Dec 28, 2022 |
| APBB2 | 1 | Feb 10, 2022 |
| APC | 495 | Dec 28, 2022 |
| APOB | 149 | Dec 28, 2022 |
| APOB3'MAR | 1 | Dec 31, 2020 |
| APP | 2 | Dec 28, 2022 |
| ARB2A | 2 | Feb 10, 2022 |
| ARFGEF1 | 1 | Aug 16, 2018 |
| ARHGAP10 | 2 | Dec 28, 2022 |
| ARHGAP15 | 1 | Dec 28, 2022 |
| ARHGAP42 | 1 | Aug 16, 2018 |
| ARHGEF28 | 1 | Aug 28, 2019 |
| ARID1B | 3 | Jul 31, 2020 |
| ASAP1 | 1 | Dec 28, 2022 |
| ASCC3 | 1 | Aug 28, 2019 |
| ASS1 | 1 | May 27, 2014 |
| ASTN2 | 27 | Dec 28, 2022 |
| ATM | 83 | Dec 28, 2022 |
| ATP13A4 | 1 | Aug 16, 2018 |
| ATP8A2 | 4 | Dec 28, 2022 |
| ATP9B | 1 | Jul 31, 2020 |
| ATRNL1 | 5 | Dec 28, 2022 |
| ATXN1 | 1 | Aug 28, 2019 |
| AUH | 1 | May 27, 2014 |
| AUTS2 | 21 | Dec 28, 2022 |
| AXIN2 | 39 | Dec 28, 2022 |
| BABAM2 | 1 | Jul 31, 2020 |
| BAP1 | 19 | Dec 28, 2022 |
| BARD1 | 154 | Dec 28, 2022 |
| BAZ2B | 1 | Dec 28, 2022 |
| BBS2 | 1 | May 27, 2014 |
| BBS9 | 5 | Dec 28, 2022 |
| BCAS3 | 3 | Feb 10, 2022 |
| BLM | 33 | Dec 28, 2022 |
| BMPR1A | 78 | Dec 28, 2022 |
| BMPR1B | 1 | Aug 28, 2019 |
| BRCA1 | 1137 | Dec 28, 2022 |
| BRCA2 | 1983 | Dec 28, 2022 |
| BRCC3 | 1 | Dec 28, 2022 |
| BRINP3 | 3 | Jul 31, 2020 |
| BRIP1 | 192 | Dec 28, 2022 |
| BTBD9 | 2 | Dec 28, 2022 |
| BTD | 56 | Dec 28, 2022 |
| C11orf65 | 34 | Dec 28, 2022 |
| C1orf21 | 1 | Dec 28, 2022 |
| CA10 | 1 | Aug 16, 2018 |
| CACNA1A | 1 | Feb 10, 2022 |
| CACNA1C | 3 | Jul 31, 2020 |
| CACNA2D1 | 3 | Aug 28, 2019 |
| CACNA2D3 | 6 | Dec 28, 2022 |
| CADM1 | 1 | Aug 16, 2018 |
| CADM2 | 2 | Jul 31, 2020 |
| CADPS2 | 2 | Jul 31, 2020 |
| CALN1 | 2 | Jul 31, 2020 |
| CAMK2D | 1 | Aug 28, 2019 |
| CAMK4 | 1 | Dec 28, 2022 |
| CAMTA1 | 2 | Aug 28, 2019 |
| CCBE1 | 1 | Aug 28, 2019 |
| CCDC102B | 1 | Aug 28, 2019 |
| CCDC141 | 2 | Dec 28, 2022 |
| CCDC148 | 2 | Feb 10, 2022 |
| CCDC170 | 1 | Jul 31, 2020 |
| CCDC171 | 1 | Dec 28, 2022 |
| CCDC7 | 2 | Aug 28, 2019 |
| CCNY | 1 | Aug 28, 2019 |
| CCSER1 | 1 | Dec 28, 2022 |
| CDH1 | 211 | Dec 28, 2022 |
| CDH12 | 2 | Dec 28, 2022 |
| CDH13 | 2 | Dec 28, 2022 |
| CDH18 | 2 | Dec 28, 2022 |
| CDH23 | 1 | Aug 16, 2018 |
| CDH4 | 1 | Aug 28, 2019 |
| CDK13 | 1 | Feb 10, 2022 |
| CDK14 | 3 | Dec 28, 2022 |
| CDK4 | 37 | Dec 28, 2022 |
| CDK5RAP2 | 1 | Dec 28, 2022 |
| CDKAL1 | 8 | Feb 10, 2022 |
| CDKN1B | 8 | Dec 28, 2022 |
| CDKN2A | 55 | Dec 28, 2022 |
| CELF2 | 1 | Feb 10, 2022 |
| CENPP | 2 | Jul 31, 2020 |
| CEP112 | 1 | Feb 10, 2022 |
| CEP128 | 1 | Jul 31, 2020 |
| CEP85L | 1 | Jul 31, 2020 |
| CERS3 | 1 | Jul 31, 2020 |
| CFAP20DC | 1 | Jul 31, 2020 |
| CFTR | 315 | Dec 28, 2022 |
| CFTR-AS1 | 43 | Dec 28, 2022 |
| CHCHD6 | 1 | Dec 28, 2022 |
| CHD6 | 1 | Jul 31, 2020 |
| CHEK2 | 158 | Dec 28, 2022 |
| CHL1 | 4 | Feb 10, 2022 |
| CHRM3 | 1 | Aug 28, 2019 |
| CHST11 | 1 | Jul 31, 2020 |
| CLEC16A | 1 | Aug 28, 2019 |
| CLTCL1 | 1 | Aug 16, 2018 |
| CMIP | 1 | Aug 28, 2019 |
| CMSS1 | 2 | Dec 28, 2022 |
| CNBD1 | 1 | Jul 31, 2020 |
| CNTLN | 1 | Aug 28, 2019 |
| CNTN4 | 28 | Dec 28, 2022 |
| CNTN5 | 3 | Jul 31, 2020 |
| CNTN6 | 10 | Dec 28, 2022 |
| CNTNAP2 | 21 | Dec 28, 2022 |
| CNTNAP5 | 2 | Feb 10, 2022 |
| COBL | 2 | Feb 10, 2022 |
| COL11A1 | 1 | Feb 10, 2022 |
| COL19A1 | 3 | Jul 31, 2020 |
| COL22A1 | 1 | Dec 28, 2022 |
| COL24A1 | 2 | Feb 10, 2022 |
| COL25A1 | 1 | Jul 31, 2020 |
| COL4A5 | 1 | Jul 31, 2020 |
| COLGALT2 | 1 | Aug 28, 2019 |
| CORIN | 1 | Aug 16, 2018 |
| COX10 | 1 | Aug 16, 2018 |
| CPA6 | 1 | Aug 16, 2018 |
| CPED1 | 1 | Feb 10, 2022 |
| CPQ | 1 | Aug 28, 2019 |
| CREBBP | 1 | Jul 31, 2020 |
| CRPPA | 1 | Aug 16, 2018 |
| CSMD1 | 14 | Dec 28, 2022 |
| CSMD3 | 7 | Dec 28, 2022 |
| CTCF | 1 | Dec 28, 2022 |
| CTNNA2 | 3 | Dec 28, 2022 |
| CTNNA3 | 8 | Dec 28, 2022 |
| CTNND2 | 8 | Dec 28, 2022 |
| CUX1 | 2 | Jul 31, 2020 |
| CWC27 | 1 | Dec 28, 2022 |
| CYP21A2 | 15 | Dec 28, 2022 |
| DACH1 | 1 | Dec 28, 2022 |
| DACH2 | 2 | Dec 28, 2022 |
| DCC | 2 | Dec 28, 2022 |
| DENND4C | 2 | Jul 31, 2020 |
| DGKB | 3 | Dec 28, 2022 |
| DHFR | 19 | Dec 28, 2022 |
| DIAPH2 | 2 | Dec 28, 2022 |
| DIAPH3 | 3 | Aug 28, 2019 |
| DICER1 | 37 | Dec 28, 2022 |
| DISC1 | 7 | Dec 28, 2022 |
| DLG2 | 8 | Dec 28, 2022 |
| DLGAP1 | 2 | Dec 28, 2022 |
| DMBT1 | 1 | Feb 10, 2022 |
| DMD | 49 | Dec 28, 2022 |
| DMRT1 | 1 | Feb 10, 2022 |
| DNAH14 | 1 | Jul 31, 2020 |
| DNAH7 | 1 | Feb 10, 2022 |
| DNAJC1 | 1 | Feb 10, 2022 |
| DNER | 1 | Aug 28, 2019 |
| DNM3 | 2 | Dec 28, 2022 |
| DOCK1 | 3 | Dec 28, 2022 |
| DOCK3 | 1 | Aug 28, 2019 |
| DOCK4 | 1 | Feb 10, 2022 |
| DOCK8 | 9 | Dec 28, 2022 |
| DOK5 | 1 | Jul 31, 2020 |
| DPYD | 4 | Jul 31, 2020 |
| DTNBP1 | 1 | Aug 28, 2019 |
| DYM | 2 | Aug 16, 2018 |
| DYNC2H1 | 2 | Feb 10, 2022 |
| EDA | 1 | Dec 28, 2022 |
| EFCAB5 | 1 | Jul 31, 2020 |
| EGFR | 4 | Dec 28, 2022 |
| EGFR-AS1 | 1 | Dec 29, 2021 |
| EHMT1 | 2 | Jul 31, 2020 |
| ELP3 | 1 | Aug 16, 2018 |
| ELP4 | 1 | Dec 28, 2022 |
| EML6 | 1 | Aug 16, 2018 |
| ENOX1 | 2 | Dec 28, 2022 |
| ENPP6 | 1 | Dec 28, 2022 |
| ENTPD1 | 1 | Aug 16, 2018 |
| ENTREP2 | 1 | Jul 31, 2020 |
| EPB41L4A | 1 | Aug 28, 2019 |
| EPHA6 | 2 | Feb 10, 2022 |
| EPS8 | 1 | Aug 16, 2018 |
| ERBB4 | 4 | Jul 31, 2020 |
| ERC1 | 2 | Aug 28, 2019 |
| ERC2 | 1 | Aug 28, 2019 |
| ESR2 | 1 | Aug 16, 2018 |
| EVC | 1 | Dec 28, 2022 |
| EVC2 | 1 | Jul 31, 2020 |
| EXOC4 | 8 | Dec 28, 2022 |
| EXOC6B | 2 | Aug 16, 2018 |
| EYA4 | 1 | Aug 16, 2018 |
| EYS | 20 | Dec 28, 2022 |
| FAF1 | 3 | Dec 28, 2022 |
| FAM13A | 2 | Feb 10, 2022 |
| FANCA | 65 | Dec 28, 2022 |
| FANCC | 17 | Dec 28, 2022 |
| FANCM | 61 | Dec 28, 2022 |
| FARS2 | 7 | Dec 28, 2022 |
| FAT3 | 1 | Dec 28, 2022 |
| FBXL17 | 1 | Jul 31, 2020 |
| FBXO11 | 1 | Aug 1, 2017 |
| FER | 1 | Jul 31, 2020 |
| FER1L6 | 1 | Aug 16, 2018 |
| FGD6 | 1 | Feb 10, 2022 |
| FGF12 | 2 | Dec 28, 2022 |
| FGF13 | 1 | Aug 28, 2019 |
| FGF14 | 1 | Jul 31, 2020 |
| FGGY | 4 | Feb 10, 2022 |
| FH | 13 | Dec 28, 2022 |
| FHIP1A | 1 | Aug 16, 2018 |
| FHIT | 7 | Dec 28, 2022 |
| FILIP1L | 2 | Dec 28, 2022 |
| FKTN | 1 | Aug 16, 2018 |
| FLCN | 13 | Dec 28, 2022 |
| FNBP1 | 1 | Feb 10, 2022 |
| FOCAD | 3 | Feb 10, 2022 |
| FOXP1 | 2 | Aug 28, 2019 |
| FPGT-TNNI3K | 1 | Dec 28, 2022 |
| FRAS1 | 1 | Aug 28, 2019 |
| FREM1 | 1 | Aug 16, 2018 |
| FREM3 | 1 | Dec 28, 2022 |
| FRMD5 | 1 | Dec 28, 2022 |
| FSTL5 | 1 | Aug 16, 2018 |
| FTO | 1 | Aug 16, 2018 |
| GABBR2 | 1 | Aug 16, 2018 |
| GABRG3 | 1 | Dec 28, 2022 |
| GALK2 | 1 | Jul 31, 2020 |
| GALNT12 | 22 | Dec 28, 2022 |
| GALNT13 | 1 | Aug 28, 2019 |
| GALNT17 | 1 | Dec 28, 2022 |
| GALNT7 | 1 | Aug 16, 2018 |
| GALNTL6 | 3 | Jul 31, 2020 |
| GBE1 | 2 | Jul 31, 2020 |
| GHR | 2 | Jul 31, 2020 |
| GLDC | 2 | Feb 10, 2022 |
| GLI2 | 1 | Aug 16, 2018 |
| GLI3 | 1 | Aug 16, 2018 |
| GMDS | 4 | Dec 28, 2022 |
| GPC3 | 1 | Dec 28, 2022 |
| GPC5 | 6 | Feb 10, 2022 |
| GPC6 | 5 | Dec 28, 2022 |
| GPHN | 6 | Dec 28, 2022 |
| GPM6A | 1 | Aug 16, 2018 |
| GPR75-ASB3 | 1 | Jul 31, 2020 |
| GRIA3 | 1 | Feb 10, 2022 |
| GRIA4 | 1 | Dec 28, 2022 |
| GRID1 | 3 | Dec 28, 2022 |
| GRID2 | 3 | Feb 10, 2022 |
| GRIK1 | 1 | Dec 28, 2022 |
| GRIN2A | 3 | Dec 28, 2022 |
| GRIN2B | 1 | Jul 31, 2020 |
| GRIP1 | 2 | Dec 28, 2022 |
| GRM1 | 1 | Feb 10, 2022 |
| GRM7 | 3 | Feb 10, 2022 |
| GRM8 | 1 | Aug 16, 2018 |
| HACL1 | 1 | Aug 1, 2017 |
| HBA1 | 61 | Dec 28, 2022 |
| HBA2 | 97 | Dec 28, 2022 |
| HBB | 266 | Dec 28, 2022 |
| HCN1 | 1 | Jul 31, 2020 |
| HDAC4 | 2 | Feb 10, 2022 |
| HDAC9 | 2 | Dec 28, 2022 |
| HEXA | 7 | Dec 28, 2022 |
| HLCS | 1 | Feb 10, 2022 |
| HMCN1 | 1 | Dec 28, 2022 |
| HMGCLL1 | 2 | Feb 10, 2022 |
| HOXB13 | 11 | Dec 28, 2022 |
| HPSE2 | 1 | Aug 28, 2019 |
| HYDIN | 1 | Aug 16, 2018 |
| IGF1R | 1 | Aug 28, 2019 |
| IL1RAPL1 | 11 | Dec 28, 2022 |
| IL1RAPL2 | 3 | Jul 31, 2020 |
| IMMP2L | 1 | Aug 28, 2019 |
| INVS | 2 | Jul 31, 2020 |
| IQCA1 | 1 | Aug 28, 2019 |
| IQCJ-SCHIP1 | 1 | Aug 28, 2019 |
| IQGAP2 | 1 | Jul 31, 2020 |
| ITGA9 | 1 | Dec 28, 2022 |
| ITPR2 | 1 | Aug 16, 2018 |
| JARID2 | 3 | Aug 28, 2019 |
| JAZF1 | 2 | Feb 10, 2022 |
| JMJD1C | 2 | Dec 28, 2022 |
| KALRN | 1 | Jul 31, 2020 |
| KANK1 | 7 | Dec 28, 2022 |
| KATNAL2 | 1 | Feb 10, 2022 |
| KATNIP | 1 | Aug 28, 2019 |
| KCND2 | 1 | Feb 10, 2022 |
| KCNH1 | 3 | Feb 10, 2022 |
| KCNIP1 | 1 | Aug 16, 2018 |
| KCNIP4 | 1 | Dec 28, 2022 |
| KCNMA1 | 3 | Feb 10, 2022 |
| KCNQ1 | 1 | Jul 31, 2020 |
| KCNQ5 | 1 | Aug 28, 2019 |
| KDM4C | 3 | Dec 28, 2022 |
| KDM6A | 1 | Aug 16, 2018 |
| KIAA0319 | 1 | Dec 28, 2022 |
| KIAA1328 | 5 | Dec 28, 2022 |
| KIF26B | 3 | Dec 28, 2022 |
| KIRREL3 | 1 | Feb 10, 2022 |
| KLHL1 | 1 | Feb 10, 2022 |
| KLHL6 | 1 | Dec 28, 2022 |
| KLLN | 27 | Dec 28, 2022 |
| KNTC1 | 1 | Jul 31, 2020 |
| LAMA2 | 4 | Feb 10, 2022 |
| LAMC3 | 1 | Aug 28, 2019 |
| LARGE1 | 9 | Dec 28, 2022 |
| LCLAT1 | 1 | Jul 31, 2020 |
| LDB2 | 1 | Aug 16, 2018 |
| LDLR | 105 | Dec 28, 2022 |
| LDLR-AS1 | 7 | Dec 28, 2022 |
| LIMD1 | 1 | Dec 28, 2022 |
| LINGO2 | 8 | Feb 10, 2022 |
| LOC100507346 | 15 | Dec 28, 2022 |
| LOC106099062 | 179 | Dec 28, 2022 |
| LOC106560211 | 5 | Dec 28, 2022 |
| LOC106721785 | 5 | Dec 31, 2020 |
| LOC106780800 | 15 | Dec 28, 2022 |
| LOC106804612 | 97 | Dec 28, 2022 |
| LOC106804613 | 57 | Dec 28, 2022 |
| LOC107133510 | 266 | Dec 28, 2022 |
| LOC107303340 | 1 | Dec 28, 2022 |
| LOC110006319 | 93 | Dec 28, 2022 |
| LOC110631417 | 2 | Dec 28, 2022 |
| LOC111589215 | 3 | Oct 16, 2019 |
| LOC111674463 | 9 | Dec 28, 2022 |
| LOC111674472 | 27 | Dec 28, 2022 |
| LOC111674475 | 11 | Dec 28, 2022 |
| LOC111674477 | 8 | Dec 28, 2022 |
| LOC112486223 | 3 | Dec 28, 2022 |
| LOC113633877 | 2 | Mar 6, 2020 |
| LOC113664106 | 3 | Dec 29, 2021 |
| LOC126806630 | 6 | Dec 29, 2021 |
| LOC126807437 | 1 | Dec 28, 2022 |
| LOC126860438 | 9 | Dec 28, 2022 |
| LOC126861339 | 3 | Dec 28, 2022 |
| LOC126861615 | 2 | Mar 6, 2020 |
| LOC126862264 | 3 | Mar 6, 2020 |
| LOC126862571 | 177 | Dec 28, 2022 |
| LOC129390903 | 10 | Dec 28, 2022 |
| LOC129933707 | 5 | Dec 29, 2021 |
| LOC129934333 | 1 | Dec 29, 2021 |
| LOC130001603 | 4 | Dec 28, 2022 |
| LOC130002133 | 9 | Dec 28, 2022 |
| LOC130004273 | 21 | Dec 28, 2022 |
| LOC130004614 | 2 | Dec 28, 2022 |
| LOC130008148 | 2 | Dec 28, 2022 |
| LOC130009266 | 6 | Dec 28, 2022 |
| LOC130059837 | 1 | Dec 28, 2022 |
| LOC130062894 | 1 | Dec 31, 2020 |
| LOC130062899 | 15 | Dec 28, 2022 |
| LPP | 3 | Dec 28, 2022 |
| LRBA | 1 | Aug 16, 2018 |
| LRCH3 | 1 | Jul 31, 2020 |
| LRFN5 | 2 | Aug 28, 2019 |
| LRGUK | 1 | Aug 16, 2018 |
| LRP1B | 5 | Jul 31, 2020 |
| LRRC4C | 3 | Jul 31, 2020 |
| LRRIQ1 | 1 | Dec 28, 2022 |
| LSAMP | 1 | Dec 28, 2022 |
| LTBP1 | 1 | Aug 28, 2019 |
| LUZP1 | 1 | Jul 31, 2020 |
| MACROD2 | 5 | Dec 28, 2022 |
| MAD1L1 | 1 | Aug 28, 2019 |
| MAGI1 | 3 | Dec 28, 2022 |
| MAGI2 | 1 | Jul 31, 2020 |
| MAP4 | 1 | Aug 16, 2018 |
| MAP4K3 | 1 | Aug 16, 2018 |
| MARCHF1 | 4 | Dec 28, 2022 |
| MAST4 | 3 | Dec 28, 2022 |
| MAX | 1 | Dec 28, 2022 |
| MBD5 | 17 | Dec 28, 2022 |
| MCC | 2 | Aug 28, 2019 |
| MCPH1 | 3 | Aug 28, 2019 |
| MCTP2 | 1 | Aug 28, 2019 |
| MDGA2 | 3 | Feb 10, 2022 |
| ME1 | 1 | Dec 28, 2022 |
| MECP2 | 8 | Dec 28, 2022 |
| MED12L | 2 | Feb 10, 2022 |
| MED13L | 6 | Dec 28, 2022 |
| MEF2C | 1 | Jul 31, 2020 |
| MEFV | 7 | Mar 6, 2020 |
| MELK | 1 | Jul 31, 2020 |
| MEN1 | 12 | Dec 28, 2022 |
| MET | 7 | Dec 28, 2022 |
| METTL15 | 1 | Aug 16, 2018 |
| MGAT4C | 1 | Jul 31, 2020 |
| MGMT | 2 | Aug 28, 2019 |
| MICU1 | 2 | Jul 31, 2020 |
| MID1 | 3 | Dec 28, 2022 |
| MIPOL1 | 1 | Dec 28, 2022 |
| MITF | 2 | Dec 28, 2022 |
| MLH1 | 241 | Dec 28, 2022 |
| MMP16 | 1 | Jul 31, 2020 |
| MNAT1 | 1 | Dec 28, 2022 |
| MRE11 | 14 | Dec 28, 2022 |
| MSH2 | 307 | Dec 28, 2022 |
| MSH3 | 59 | Dec 28, 2022 |
| MSH6 | 452 | Dec 28, 2022 |
| MSI2 | 1 | Dec 28, 2022 |
| MSRA | 3 | Dec 28, 2022 |
| MUTYH | 155 | Dec 28, 2022 |
| MYO1D | 1 | Aug 16, 2018 |
| MYO3A | 2 | Dec 28, 2022 |
| MYO3B | 2 | Dec 28, 2022 |
| MYO5A | 1 | Aug 28, 2019 |
| MYT1L | 3 | Dec 28, 2022 |
| NAALADL2 | 4 | Feb 10, 2022 |
| NALCN | 1 | Aug 16, 2018 |
| NALF1 | 1 | Aug 16, 2018 |
| NBAS | 6 | Feb 10, 2022 |
| NBEA | 3 | Feb 10, 2022 |
| NBN | 139 | Dec 28, 2022 |
| NCKAP5 | 5 | Feb 10, 2022 |
| NEBL | 1 | Aug 16, 2018 |
| NEGR1 | 2 | Jul 31, 2020 |
| NEK11 | 1 | Jul 31, 2020 |
| NELL2 | 1 | Aug 16, 2018 |
| NF1 | 48 | Dec 28, 2022 |
| NKAIN2 | 2 | Jul 31, 2020 |
| NKAIN3 | 1 | Feb 10, 2022 |
| NLGN1 | 2 | Dec 28, 2022 |
| NLGN4X | 2 | Aug 28, 2019 |
| NME7 | 1 | Aug 28, 2019 |
| NOS1AP | 1 | Aug 28, 2019 |
| NOTCH2 | 1 | Aug 28, 2019 |
| NOX5 | 1 | Dec 28, 2022 |
| NPAS3 | 4 | Dec 28, 2022 |
| NR3C2 | 1 | Jul 31, 2020 |
| NRCAM | 1 | Jul 31, 2020 |
| NRG3 | 4 | Feb 10, 2022 |
| NRXN1 | 39 | Dec 28, 2022 |
| NSD2 | 1 | Aug 28, 2019 |
| NSMCE2 | 1 | Aug 28, 2019 |
| NTHL1 | 17 | Dec 28, 2022 |
| NUDCD1 | 1 | Dec 28, 2022 |
| NXN | 2 | Dec 28, 2022 |
| NXPH1 | 1 | Aug 16, 2018 |
| NYAP2 | 1 | Dec 28, 2022 |
| OCA2 | 2 | Jul 31, 2020 |
| OPCML | 1 | Aug 16, 2018 |
| OSBPL8 | 1 | Dec 28, 2022 |
| OSGIN2 | 1 | Oct 16, 2019 |
| PACRG | 1 | Jul 31, 2020 |
| PACSIN2 | 1 | Aug 16, 2018 |
| PAH | 55 | Dec 28, 2022 |
| PAK5 | 1 | Feb 10, 2022 |
| PALB2 | 257 | Dec 28, 2022 |
| PARD3 | 5 | Dec 28, 2022 |
| PARD3B | 2 | Dec 28, 2022 |
| PARVB | 1 | Aug 16, 2018 |
| PATJ | 2 | Dec 28, 2022 |
| PCCA | 4 | Jul 31, 2020 |
| PCDH11X | 2 | Aug 16, 2018 |
| PCDH15 | 4 | Feb 10, 2022 |
| PCDH9 | 2 | Aug 16, 2018 |
| PCLO | 1 | Aug 28, 2019 |
| PCSK9 | 35 | Dec 28, 2022 |
| PDE11A | 4 | Dec 28, 2022 |
| PDE1A | 1 | Dec 28, 2022 |
| PDE4D | 5 | Dec 28, 2022 |
| PDSS2 | 1 | Feb 10, 2022 |
| PHACTR2 | 1 | Jul 31, 2020 |
| PI4KA | 1 | Jul 31, 2020 |
| PIBF1 | 1 | Jul 31, 2020 |
| PIGN | 2 | Dec 28, 2022 |
| PIK3C2G | 3 | Dec 28, 2022 |
| PKD1L1 | 1 | Aug 28, 2019 |
| PKD1L2 | 1 | Feb 10, 2022 |
| PKHD1 | 1 | Aug 16, 2018 |
| PLA2R1 | 1 | Aug 28, 2019 |
| PLCB1 | 2 | Jul 31, 2020 |
| PLD5 | 2 | Dec 28, 2022 |
| PLEKHA7 | 1 | Jul 31, 2020 |
| PLXDC2 | 2 | Dec 28, 2022 |
| PMS2 | 269 | Dec 28, 2022 |
| POLD1 | 268 | Dec 28, 2022 |
| POLE | 431 | Dec 28, 2022 |
| POLQ | 1 | Feb 10, 2022 |
| POT1 | 15 | Dec 28, 2022 |
| PPFIBP2 | 1 | Jul 31, 2020 |
| PPM1L | 1 | Aug 16, 2018 |
| PPP1R1C | 2 | Dec 28, 2022 |
| PPP2R2C | 1 | Aug 16, 2018 |
| PPP6R2 | 1 | Feb 10, 2022 |
| PRKAG2 | 1 | Aug 16, 2018 |
| PRKCA | 2 | Dec 28, 2022 |
| PRKG1 | 1 | Jul 31, 2020 |
| PRKN | 28 | Dec 28, 2022 |
| PRUNE2 | 1 | Feb 10, 2022 |
| PSD3 | 4 | Jul 31, 2020 |
| PTCH1 | 57 | Dec 28, 2022 |
| PTEN | 111 | Dec 28, 2022 |
| PTGER3 | 1 | Aug 28, 2019 |
| PTPN4 | 1 | Aug 16, 2018 |
| PTPRD | 13 | Dec 28, 2022 |
| PTPRM | 4 | Dec 28, 2022 |
| PTPRN2 | 6 | Dec 28, 2022 |
| PTPRT | 5 | Feb 10, 2022 |
| PXDNL | 2 | Feb 10, 2022 |
| RABGAP1L | 2 | Feb 10, 2022 |
| RAD50 | 21 | Dec 28, 2022 |
| RAD51B | 1 | Feb 10, 2022 |
| RAD51C | 70 | Dec 28, 2022 |
| RAD51D | 65 | Dec 28, 2022 |
| RAD51L3-RFFL | 65 | Dec 28, 2022 |
| RASGRF2 | 1 | Aug 28, 2019 |
| RBFOX1 | 17 | Dec 28, 2022 |
| RBFOX2 | 1 | Feb 10, 2022 |
| RECQL | 13 | Dec 28, 2022 |
| RELN | 1 | Dec 28, 2022 |
| RERE | 1 | Aug 28, 2019 |
| RET | 24 | Dec 28, 2022 |
| RFC3 | 1 | Aug 16, 2018 |
| RFXAP | 1 | May 27, 2014 |
| RGL1 | 1 | Aug 16, 2018 |
| RGS22 | 1 | Jul 31, 2020 |
| RGS6 | 1 | Feb 10, 2022 |
| RGS7 | 1 | Dec 28, 2022 |
| RHBDD1 | 3 | Aug 28, 2019 |
| RIMS2 | 1 | Dec 28, 2022 |
| RIN3 | 1 | Feb 10, 2022 |
| ROBO2 | 1 | Dec 28, 2022 |
| RPGRIP1L | 1 | Aug 28, 2019 |
| RPS6KA2 | 1 | Aug 28, 2019 |
| RREB1 | 1 | Aug 28, 2019 |
| RSRC1 | 2 | Aug 16, 2018 |
| RUFY3 | 1 | Aug 16, 2018 |
| RYR2 | 5 | Feb 10, 2022 |
| RYR3 | 1 | Jul 31, 2020 |
| SATB2 | 1 | Jul 31, 2020 |
| SBF2 | 1 | Jul 31, 2020 |
| SCAPER | 2 | Dec 28, 2022 |
| SCFD1 | 1 | Aug 16, 2018 |
| SCFD2 | 2 | Aug 28, 2019 |
| SDCCAG8 | 1 | Aug 16, 2018 |
| SDHA | 36 | Dec 28, 2022 |
| SDHAF2 | 4 | Dec 28, 2022 |
| SDHB | 4 | Dec 28, 2022 |
| SDHC | 26 | Dec 28, 2022 |
| SDHD | 25 | Dec 28, 2022 |
| SDK1 | 8 | Dec 28, 2022 |
| SEL1L2 | 1 | Jul 31, 2020 |
| SEMA3A | 1 | Jul 31, 2020 |
| SEMA3E | 1 | Aug 28, 2019 |
| SEMA6A | 1 | Jul 31, 2020 |
| SERGEF | 1 | Aug 28, 2019 |
| SGCZ | 3 | Dec 28, 2022 |
| SH3PXD2A | 1 | Aug 28, 2019 |
| SHANK2 | 6 | Dec 28, 2022 |
| SHOC1 | 1 | Aug 16, 2018 |
| SLC20A2 | 1 | Aug 16, 2018 |
| SLC24A2 | 2 | Dec 28, 2022 |
| SLC2A13 | 2 | Dec 28, 2022 |
| SLC30A8 | 1 | Aug 28, 2019 |
| SLC44A5 | 1 | Aug 28, 2019 |
| SMAD4 | 56 | Dec 28, 2022 |
| SMAD9 | 1 | May 27, 2014 |
| SMARCA2 | 1 | Aug 16, 2018 |
| SMARCA4 | 41 | Dec 28, 2022 |
| SMARCAL1 | 1 | Aug 28, 2019 |
| SMYD3 | 5 | Dec 28, 2022 |
| SNCAIP | 1 | Aug 28, 2019 |
| SND1 | 1 | Aug 28, 2019 |
| SNTG1 | 1 | Aug 28, 2019 |
| SNTG2 | 2 | Dec 28, 2022 |
| SNX29 | 6 | Dec 28, 2022 |
| SORCS1 | 1 | Dec 28, 2022 |
| SORCS3 | 1 | Dec 28, 2022 |
| SOX5 | 8 | Dec 28, 2022 |
| SP4 | 1 | Aug 28, 2019 |
| SPAG16 | 4 | Jul 31, 2020 |
| SPATA6 | 1 | Aug 28, 2019 |
| SPIRE1 | 1 | Aug 28, 2019 |
| SPOCK1 | 1 | Aug 28, 2019 |
| SPOCK3 | 1 | Feb 10, 2022 |
| SRBD1 | 1 | Jul 31, 2020 |
| STAG1 | 2 | Feb 10, 2022 |
| STK11 | 141 | Dec 28, 2022 |
| STK32B | 3 | Feb 10, 2022 |
| STON1-GTF2A1L | 1 | Aug 28, 2019 |
| STPG2 | 1 | Aug 28, 2019 |
| STS | 1 | Aug 16, 2018 |
| STX8 | 1 | Aug 16, 2018 |
| STXBP5L | 1 | Aug 28, 2019 |
| SUCLG2 | 1 | Dec 28, 2022 |
| SUFU | 13 | Dec 28, 2022 |
| SUGCT | 10 | Dec 28, 2022 |
| SUPT3H | 3 | Jul 31, 2020 |
| SUSD4 | 1 | Aug 28, 2019 |
| SYN3 | 1 | Dec 28, 2022 |
| SYNE1 | 2 | Dec 28, 2022 |
| SYNRG | 1 | Dec 28, 2022 |
| SYT1 | 2 | Feb 10, 2022 |
| SYT9 | 2 | Feb 10, 2022 |
| TBC1D22A | 1 | Aug 16, 2018 |
| TBC1D32 | 1 | Jul 31, 2020 |
| TBC1D5 | 2 | Dec 28, 2022 |
| TBCD | 1 | Aug 16, 2018 |
| TBCK | 2 | Dec 28, 2022 |
| TBL1XR1 | 1 | Aug 16, 2018 |
| TCF4 | 4 | Aug 28, 2019 |
| TEK | 1 | Aug 28, 2019 |
| TENM3 | 1 | Aug 16, 2018 |
| TENM4 | 3 | Jul 31, 2020 |
| TESK2 | 1 | Aug 16, 2018 |
| TEX14 | 3 | Dec 28, 2022 |
| TH2-LCR | 1 | Dec 28, 2022 |
| TH2LCRR | 3 | Dec 28, 2022 |
| THADA | 2 | Jul 31, 2020 |
| THRB | 53 | Dec 28, 2022 |
| THSD4 | 1 | Dec 28, 2022 |
| THSD7A | 1 | Aug 28, 2019 |
| THSD7B | 2 | Dec 28, 2022 |
| TIAM1 | 2 | Jul 31, 2020 |
| TMC2 | 1 | Jul 31, 2020 |
| TMEM117 | 2 | Dec 28, 2022 |
| TMEM127 | 3 | Dec 28, 2022 |
| TMEM135 | 1 | Aug 28, 2019 |
| TMEM241 | 1 | Jul 31, 2020 |
| TMEM260 | 1 | Aug 16, 2018 |
| TMLHE | 3 | Dec 28, 2022 |
| TMTC1 | 1 | Aug 16, 2018 |
| TMTC2 | 1 | Jul 31, 2020 |
| TNNI3K | 1 | Dec 28, 2022 |
| TNRC18 | 1 | Feb 10, 2022 |
| TNXB | 3 | Dec 28, 2022 |
| TOE1 | 5 | Dec 28, 2022 |
| TP53 | 101 | Dec 28, 2022 |
| TPD52 | 1 | Dec 28, 2022 |
| TRAK1 | 1 | Feb 10, 2022 |
| TRAP1 | 1 | Dec 28, 2022 |
| TRAPPC9 | 5 | Feb 10, 2022 |
| TRPC5 | 1 | Dec 28, 2022 |
| TRPM1 | 1 | Aug 28, 2019 |
| TRPM3 | 1 | Aug 16, 2018 |
| TRPS1 | 2 | Dec 28, 2022 |
| TSC1 | 16 | Dec 28, 2022 |
| TSC2 | 33 | Dec 28, 2022 |
| TSHZ2 | 1 | Feb 10, 2022 |
| TSPAN31 | 19 | Dec 28, 2022 |
| TTC23 | 3 | Dec 28, 2022 |
| TTC28 | 1 | Aug 16, 2018 |
| TTLL11 | 1 | Jul 31, 2020 |
| TUSC3 | 1 | Aug 28, 2019 |
| UBE3A | 1 | Aug 28, 2019 |
| UGT1A8 | 1 | Aug 16, 2018 |
| ULK4 | 2 | Dec 28, 2022 |
| UNC13C | 1 | Aug 28, 2019 |
| USH2A | 4 | Jul 31, 2020 |
| UTRN | 1 | Dec 28, 2022 |
| VAT1L | 1 | Aug 16, 2018 |
| VEPH1 | 2 | Feb 10, 2022 |
| VHL | 3 | Dec 28, 2022 |
| VIT | 1 | Aug 16, 2018 |
| VPS13B | 6 | Feb 10, 2022 |
| VPS13D | 1 | Jul 31, 2020 |
| VWC2L | 1 | Aug 16, 2018 |
| VWF | 236 | Dec 28, 2022 |
| WDFY2 | 1 | Aug 28, 2019 |
| WDFY3 | 1 | Feb 10, 2022 |
| WDHD1 | 1 | Aug 28, 2019 |
| WDR27 | 2 | Feb 10, 2022 |
| WDR70 | 3 | Dec 28, 2022 |
| WDR72 | 2 | Feb 10, 2022 |
| WWOX | 12 | Dec 28, 2022 |
| XIRP2 | 1 | Dec 28, 2022 |
| XRCC2 | 5 | Dec 28, 2022 |
| XRCC4 | 3 | Jul 31, 2020 |
| YWHAE | 1 | Aug 28, 2019 |
| ZEB1 | 1 | Aug 16, 2018 |
| ZFHX3 | 1 | Aug 28, 2019 |
| ZFYVE9 | 1 | Dec 28, 2022 |
| ZMAT4 | 1 | Aug 16, 2018 |
| ZNF148 | 1 | Feb 10, 2022 |
| ZNF276 | 15 | Dec 28, 2022 |
| ZNF732 | 1 | Feb 10, 2022 |
| ZNF83 | 3 | Feb 10, 2022 |
| ZNRF3 | 1 | Jul 31, 2020 |
| ZRANB3 | 3 | Dec 28, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 3-methylglutaconic aciduria type 1 | 1 | May 27, 2014 |
| Bardet-Biedl syndrome 2 | 1 | May 27, 2014 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 87 | Jul 18, 2016 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 85 | Jul 18, 2016 |
| Citrullinemia type I | 1 | May 27, 2014 |
| Laron-type isolated somatotropin defect | 1 | May 27, 2014 |
| MHC class II deficiency | 1 | May 27, 2014 |
| Microcephaly 1, primary, autosomal recessive | 1 | May 27, 2014 |
| not provided | 18066 | Dec 28, 2022 |
| not specified | 2024 | Dec 28, 2022 |
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 11q partial monosomy syndrome | 1 test |
| 2-aminoadipic 2-oxoadipic aciduria | 2 tests |
| 2-hydroxyglutaric aciduria | 1 test |
| 3-Hydroxyisobutyric aciduria | 1 test |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2 tests |
| 3-methylglutaconic aciduria type 1 | 2 tests |
| 46,XX testicular disorder of sex development | 1 test |
| 4p partial monosomy syndrome | 2 tests |
| 5-Oxoprolinase deficiency | 1 test |
| 5p partial monosomy syndrome | 2 tests |
| Achondroplasia | 1 test |
| Acute intermittent porphyria | 3 tests |
| Adrenoleukodystrophy | 1 test |
| Advanced maternal age gravida | 8 tests |
| Alkaptonuria | 1 test |
| Alpha-1-antitrypsin deficiency | 1 test |
| Alpha-methylacyl-CoA racemase deficiency | 1 test |
| Angelman syndrome | 3 tests |
| Arginase deficiency | 1 test |
| Argininosuccinate lyase deficiency | 2 tests |
| Atrial fibrillation | 1 test |
| Autism spectrum disorder | 5 tests |
| Azathioprine response | 1 test |
| BAP1-related tumor predisposition syndrome | 2 tests |
| Beta-hydroxyisobutyryl-CoA deacylase deficiency | 1 test |
| Biotinidase deficiency | 4 tests |
| Bloom syndrome | 1 test |
| Breast and colorectal cancer, susceptibility to | 2 tests |
| Breast cancer, susceptibility to | 5 tests |
| Breast neoplasm | 1 test |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 2 tests |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 2 tests |
| Bronchiectasis | 1 test |
| CYP2C19-related poor drug metabolism | 2 tests |
| Carnitine acylcarnitine translocase deficiency | 1 test |
| Carnitine palmitoyl transferase 1A deficiency | 2 tests |
| Carnitine palmitoyltransferase II deficiency | 1 test |
| Cholesteryl ester storage disease | 1 test |
| Chromosome 1p36 deletion syndrome | 1 test |
| Citrullinemia type II | 2 tests |
| Citrullinuria | 3 tests |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 2 tests |
| Classical phenylketonuria | 1 test |
| Cobalamin deficiency | 2 tests |
| Cognitive impairment | 5 tests |
| Colorectal cancer, susceptibility to, 10 | 3 tests |
| Complete trisomy 13 syndrome | 1 test |
| Complete trisomy 18 | 1 test |
| Complete trisomy 21 syndrome | 1 test |
| Congenital chromosomal disease | 2 tests |
| Congenital hyperammonemia, type I | 1 test |
| Congenital plasminogen activator inhibitor type 1 deficiency | 1 test |
| Coronary artery disease, susceptibility to | 2 tests |
| Coronary artery disorder | 1 test |
| Cowden syndrome | 1 test |
| Cowden syndrome 1 | 4 tests |
| Cutaneous porphyria | 2 tests |
| Cystic fibrosis | 9 tests |
| Cystinuria | 1 test |
| DICER1 syndrome | 1 test |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 2 tests |
| Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 1 test |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 1 test |
| Deficiency of acetyl-CoA acetyltransferase | 2 tests |
| Deficiency of butyryl-CoA dehydrogenase | 2 tests |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 2 tests |
| Deficiency of isobutyryl-CoA dehydrogenase | 2 tests |
| Deficiency of malonyl-CoA decarboxylase | 2 tests |
| Deficiency of phosphoserine phosphatase | 1 test |
| DiGeorge syndrome | 2 tests |
| Dihydropyrimidine dehydrogenase deficiency | 1 test |
| Disorder due cytochrome p450 CYP2C9 variant | 1 test |
| Disorder due cytochrome p450 CYP2D6 variant | 1 test |
| Disorder of cardiovascular system | 1 test |
| Disorder of organic acid metabolism | 1 test |
| Disorder of the urea cycle metabolism | 1 test |
| Double Y syndrome | 1 test |
| Dysmorphic features | 5 tests |
| EGFR-related lung cancer | 1 test |
| Ethylmalonic encephalopathy | 2 tests |
| Familial Mediterranean fever | 2 tests |
| Familial adenomatous polyposis 1 | 1 test |
| Familial adenomatous polyposis 2 | 4 tests |
| Familial aplasia of the vermis | 1 test |
| Familial cancer of breast | 3 tests |
| Familial colorectal cancer | 3 tests |
| Familial cutaneous melanoma | 1 test |
| Familial dysautonomia | 1 test |
| Familial hypercholesterolemia | 2 tests |
| Familial hyperinsulinism | 1 test |
| Familial melanoma | 3 tests |
| Familial multiple polyposis syndrome | 3 tests |
| Familial prostate carcinoma | 3 tests |
| Fanconi anemia complementation group C | 1 test |
| Fragile X syndrome | 1 test |
| Fragile X-associated tremor/ataxia syndrome | 1 test |
| Fumarase deficiency | 1 test |
| Gaucher disease | 1 test |
| Gilbert syndrome | 1 test |
| Global developmental delay | 5 tests |
| Glutaric aciduria, type 1 | 2 tests |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 1 test |
| Gorlin syndrome | 2 tests |
| HSD10 mitochondrial disease | 2 tests |
| Hawkinsinuria | 1 test |
| Hb SS disease | 2 tests |
| Hepatitis C virus infection, response to therapy of | 1 test |
| Hereditary breast ovarian cancer syndrome | 5 tests |
| Hereditary cancer-predisposing syndrome | 1 test |
| Hereditary coproporphyria | 3 tests |
| Hereditary diffuse gastric adenocarcinoma | 5 tests |
| Hereditary factor VIII deficiency disease | 1 test |
| Hereditary factor XI deficiency disease | 1 test |
| Hereditary hemochromatosis | 1 test |
| Hereditary nonpolyposis colon cancer | 5 tests |
| Hereditary pancreatitis | 1 test |
| Hereditary pheochromocytoma-paraganglioma | 2 tests |
| Hereditary thrombophilia | 1 test |
| Histidine transport defect | 2 tests |
| Holocarboxylase synthetase deficiency | 2 tests |
| Homocystinuria | 1 test |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 1 test |
| Huntington disease | 1 test |
| Hypercoagulability | 2 tests |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 1 test |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 1 test |
| Iminoglycinuria | 1 test |
| Infertility | 4 tests |
| Inherited renal cancer-predisposing syndrome | 1 test |
| Isovaleryl-CoA dehydrogenase deficiency | 2 tests |
| Joubert syndrome 2 | 1 test |
| Juvenile polyposis syndrome | 4 tests |
| Klinefelter syndrome | 6 tests |
| Known OR suspected fetal abnormality affecting management of mother | 9 tests |
| Langer-Giedion syndrome | 1 test |
| Li-Fraumeni syndrome | 5 tests |
| Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2 tests |
| Lynch syndrome | 4 tests |
| Lysinuric protein intolerance | 1 test |
| Lysosomal acid lipase deficiency | 1 test |
| Maple syrup urine disease | 3 tests |
| Maternal care for suspected chromosomal abnormality in fetus | 9 tests |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 4 tests |
| Melanoma, cutaneous malignant, susceptibility to, 2 | 2 tests |
| Mercaptopurine response | 1 test |
| Methylmalonate semialdehyde dehydrogenase deficiency | 1 test |
| Methylmalonic acidemia | 4 tests |
| Mevalonic aciduria | 1 test |
| Microcephaly, normal intelligence and immunodeficiency | 1 test |
| Miller Dieker syndrome | 1 test |
| Miscarriage | 4 tests |
| Mosaic sex chromosome aneuploidy | 2 tests |
| Mucolipidosis type IV | 1 test |
| Multiple acyl-CoA dehydrogenase deficiency | 2 tests |
| Multiple congenital anomalies | 9 tests |
| Multiple cutaneous leiomyomas | 3 tests |
| Multiple endocrine neoplasia type 4 | 1 test |
| Multiple endocrine neoplasia, type 1 | 3 tests |
| Multiple endocrine neoplasia, type 2 | 3 tests |
| Multiple fibrofolliculomas | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1 test |
| Myocardial infarction | 2 tests |
| Neurofibromatosis, type 1 | 5 tests |
| Neutral 1 amino acid transport defect | 1 test |
| Niemann-Pick disease, type A | 1 test |
| Niemann-Pick disease, type B | 1 test |
| Non-ketotic hyperglycinemia | 2 tests |
| Ornithine aminotransferase deficiency | 1 test |
| Ornithine carbamoyltransferase deficiency | 2 tests |
| Oxoglutaricaciduria | 1 test |
| PHGDH deficiency | 1 test |
| Pancreatic cancer, susceptibility to, 3 | 3 tests |
| Peroxisome biogenesis disorder | 1 test |
| Peutz-Jeghers syndrome | 5 tests |
| Phenylketonuria | 2 tests |
| Phytanic acid storage disease | 1 test |
| Porphobilinogen synthase deficiency | 2 tests |
| Porphyria cutanea tarda | 2 tests |
| Prader-Willi syndrome | 3 tests |
| Pregnancy loss, recurrent, susceptibility to, 1 | 6 tests |
| Primary hyperoxaluria, type I | 1 test |
| Primary hyperoxaluria, type II | 1 test |
| Propionic acidemia | 2 tests |
| Pure gonadal dysgenesis 46,XY | 1 test |
| Pyruvate dehydrogenase E3 deficiency | 1 test |
| Pyruvate dehydrogenase complex deficiency | 1 test |
| Renal carnitine transport defect | 2 tests |
| Renal cell carcinoma | 1 test |
| Rett syndrome | 2 tests |
| Rhabdoid tumor predisposition syndrome 2 | 2 tests |
| Ribavirin response | 1 test |
| Sarcosine dehydrogenase deficiency | 1 test |
| Sickle cell-hemoglobin C disease | 2 tests |
| Smith-Magenis syndrome | 1 test |
| Solid tumor | 2 tests |
| Spermatogenic failure, Y-linked, 2 | 1 test |
| Spinal muscular atrophy | 3 tests |
| Spongy degeneration of central nervous system | 1 test |
| Statins, attenuated cholesterol lowering by | 1 test |
| Succinate-semialdehyde dehydrogenase deficiency | 1 test |
| Tay-Sachs disease | 2 tests |
| Thioguanine response | 1 test |
| Thiopurine methyltransferase deficiency | 1 test |
| Thiopurine response | 1 test |
| Thrombophilia due to activated protein C resistance | 1 test |
| Thyroid hormone resistance, generalized, autosomal dominant | 1 test |
| Trisomy X syndrome | 1 test |
| Tuberous sclerosis 1 | 1 test |
| Tuberous sclerosis 2 | 1 test |
| Tuberous sclerosis syndrome | 2 tests |
| Turner syndrome | 6 tests |
| Tyrosinemia type I | 2 tests |
| Tyrosinemia type II | 2 tests |
| Usher syndrome type 1F | 1 test |
| Usher syndrome type 3 | 1 test |
| Variegate porphyria | 3 tests |
| Velocardiofacial syndrome | 1 test |
| Very long chain acyl-CoA dehydrogenase deficiency | 1 test |
| Von Hippel-Lindau syndrome | 3 tests |
| Warfarin response | 1 test |
| Williams syndrome | 1 test |
| Wolman disease | 1 test |
| X-linked ichthyosis with steryl-sulfatase deficiency | 1 test |
| alpha Thalassemia | 5 tests |
| beta Thalassemia | 2 tests |
| von Willebrand disorder | 1 test |