Natera, Inc., Natera
General information
Natera, Inc., Natera
201 Industrial Rd, Suite 410
San Carlos
California
United States - 94070
http://www.natera.com/
Organization ID: 500034
201 Industrial Rd, Suite 410
San Carlos
California
United States - 94070
http://www.natera.com/
Organization ID: 500034
Personnel
- J. Dianne Keen-Kim, Lab Director
Phone: 6502499090
Email: dkeenkim@natera.com - Nina Sanapareddy, Lab Associate Director
Phone: 3036384241
Email: nsanapareddy@natera.com - Trevor Smart, Variant scientist/curator
Phone: 4254665183
Email: tsmart@natera.com - Natera Variant Science Team, Variant scientist/curator
Phone: 3036384241
Email: clinvar_vs@natera.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 69164
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCB11 | 247 | Feb 26, 2026 |
| ABCC8 | 428 | Feb 26, 2026 |
| ABCD1 | 146 | Feb 26, 2026 |
| ACAD9 | 151 | Feb 26, 2026 |
| ACADM | 353 | Feb 26, 2026 |
| ACADVL | 298 | Feb 26, 2026 |
| ACAT1 | 131 | Feb 26, 2026 |
| ACOX1 | 89 | Feb 26, 2026 |
| ACSF3 | 270 | Feb 26, 2026 |
| ACYP1 | 2 | Dec 28, 2020 |
| ADA | 134 | Feb 26, 2026 |
| ADAMTS2 | 362 | Feb 26, 2026 |
| ADGRG1 | 145 | Feb 26, 2026 |
| AGA | 98 | Feb 26, 2026 |
| AGA-DT | 12 | Feb 26, 2026 |
| AGL | 537 | Feb 26, 2026 |
| AGPS | 70 | Feb 26, 2026 |
| AGXT | 153 | Feb 26, 2026 |
| AIRE | 265 | Feb 26, 2026 |
| ALDH3A2 | 99 | Feb 26, 2026 |
| ALDOB | 98 | Feb 26, 2026 |
| ALG11 | 1 | Dec 28, 2020 |
| ALG6 | 104 | Feb 26, 2026 |
| ALMS1 | 1074 | Feb 26, 2026 |
| ALPL | 216 | Feb 26, 2026 |
| AMT | 132 | Feb 26, 2026 |
| AOPEP | 259 | Feb 26, 2026 |
| APBB1 | 2 | Feb 26, 2026 |
| AQP2 | 73 | Feb 26, 2026 |
| AQP5-AS1 | 40 | Feb 26, 2026 |
| ARSA | 212 | Feb 26, 2026 |
| ARSB | 155 | Feb 26, 2026 |
| ASL | 159 | Feb 26, 2026 |
| ASNS | 108 | Feb 26, 2026 |
| ASPA | 168 | Feb 26, 2026 |
| ASS1 | 210 | Feb 26, 2026 |
| ATM | 1637 | Feb 26, 2026 |
| ATP6V1B1 | 146 | Feb 26, 2026 |
| ATP6V1B1-AS1 | 3 | Jul 1, 2025 |
| ATP7A | 188 | Feb 26, 2026 |
| ATP7B | 597 | Feb 26, 2026 |
| ATRX | 273 | Feb 26, 2026 |
| AXDND1 | 40 | Feb 26, 2026 |
| BBS1 | 188 | Feb 26, 2026 |
| BBS10 | 188 | Feb 26, 2026 |
| BBS12 | 177 | Feb 26, 2026 |
| BBS2 | 209 | Feb 26, 2026 |
| BBS4 | 1 | Dec 28, 2020 |
| BCKDHA | 155 | Feb 26, 2026 |
| BCKDHB | 151 | Feb 26, 2026 |
| BCS1L | 89 | Feb 26, 2026 |
| BLM | 826 | Feb 26, 2026 |
| BRAF | 1 | Dec 28, 2020 |
| BSND | 88 | Feb 26, 2026 |
| BTD | 120 | May 22, 2025 |
| C10orf105 | 103 | Feb 26, 2026 |
| C11orf65 | 554 | Feb 26, 2026 |
| C17orf107 | 137 | Feb 26, 2026 |
| CAPN3 | 399 | Feb 26, 2026 |
| CARD14 | 1 | Feb 26, 2026 |
| CBS | 247 | Feb 26, 2026 |
| CCDC107 | 1 | Feb 26, 2026 |
| CCDC40 | 2 | Feb 26, 2026 |
| CDH23 | 1075 | Feb 26, 2026 |
| CDH23-AS1 | 43 | Feb 26, 2026 |
| CDKL5 | 30 | Feb 26, 2026 |
| CEP290 | 776 | Feb 26, 2026 |
| CERKL | 198 | Feb 26, 2026 |
| CFAP92 | 33 | Feb 26, 2026 |
| CFTR | 1683 | Feb 26, 2026 |
| CFTR-AS1 | 163 | Feb 26, 2026 |
| CFTR-AS2 | 362 | Feb 26, 2026 |
| CHM | 85 | Feb 26, 2026 |
| CHPT1 | 5 | Feb 26, 2026 |
| CHRNE | 250 | Feb 26, 2026 |
| CIITA | 362 | Feb 26, 2026 |
| CLN3 | 109 | Feb 26, 2026 |
| CLN5 | 145 | Feb 26, 2026 |
| CLN6 | 39 | Feb 26, 2026 |
| CLN8 | 118 | Feb 26, 2026 |
| CLRN1 | 63 | Feb 26, 2026 |
| CLRN1-AS1 | 5 | Feb 26, 2026 |
| CNGB3 | 248 | Feb 26, 2026 |
| COL4A3 | 526 | Feb 26, 2026 |
| COL4A4 | 497 | Feb 26, 2026 |
| COL4A5 | 214 | Feb 26, 2026 |
| COL7A1 | 821 | Feb 26, 2026 |
| CP | 50 | Feb 26, 2026 |
| CPS1 | 294 | Feb 26, 2026 |
| CPT1A | 176 | Feb 26, 2026 |
| CPT2 | 235 | Feb 26, 2026 |
| CRB1 | 346 | Feb 26, 2026 |
| CTNS | 126 | Feb 26, 2026 |
| CTNS-AS1 | 57 | Feb 26, 2026 |
| CTSK | 68 | Feb 26, 2026 |
| CYBA | 117 | Feb 26, 2026 |
| CYBB | 84 | Feb 26, 2026 |
| CYP11B2 | 182 | Feb 26, 2026 |
| CYP17A1 | 107 | Feb 26, 2026 |
| CYP17A1-AS1 | 18 | Feb 26, 2026 |
| CYP19A1 | 107 | Feb 26, 2026 |
| CYP27A1 | 184 | Feb 26, 2026 |
| CZ1P-ASNS | 108 | Feb 26, 2026 |
| DBT | 2 | Dec 28, 2020 |
| DCLRE1C | 208 | Feb 26, 2026 |
| DDX25 | 1 | Feb 26, 2026 |
| DHCR7 | 374 | Feb 26, 2026 |
| DHDDS | 61 | Feb 26, 2026 |
| DLD | 104 | Feb 26, 2026 |
| DLG4 | 6 | Feb 26, 2026 |
| DMD | 1946 | Feb 26, 2026 |
| DNAH5 | 1140 | Feb 26, 2026 |
| DNAH5-AS1 | 211 | Feb 26, 2026 |
| DNAI1 | 205 | Feb 26, 2026 |
| DNAI2 | 181 | Feb 26, 2026 |
| DVL2 | 2 | Feb 26, 2026 |
| DYSF | 834 | Feb 26, 2026 |
| EDA | 47 | Feb 26, 2026 |
| EIF2B5 | 101 | Feb 26, 2026 |
| ELP1 | 817 | Feb 26, 2026 |
| EMD | 66 | Feb 26, 2026 |
| ESCO2 | 129 | Feb 26, 2026 |
| ETFA | 85 | Feb 26, 2026 |
| ETFDH | 199 | Feb 26, 2026 |
| ETHE1 | 79 | Feb 26, 2026 |
| EVC | 308 | Feb 26, 2026 |
| EVC2 | 1 | Dec 28, 2020 |
| EYS | 1074 | Feb 26, 2026 |
| F11 | 201 | Feb 26, 2026 |
| F11-AS1 | 41 | Feb 26, 2026 |
| F5 | 1 | Dec 28, 2020 |
| F9 | 71 | Feb 26, 2026 |
| FAH | 170 | Feb 26, 2026 |
| FAM161A | 196 | Feb 26, 2026 |
| FANCA | 850 | Feb 26, 2026 |
| FANCC | 374 | Feb 26, 2026 |
| FANCG | 164 | Feb 26, 2026 |
| FBXL3 | 76 | Feb 26, 2026 |
| FH | 206 | Feb 26, 2026 |
| FKRP | 220 | Feb 26, 2026 |
| FKTN | 169 | Feb 26, 2026 |
| FMR1 | 5 | Feb 9, 2022 |
| FRAXA | 1 | Feb 9, 2022 |
| G6PC1 | 106 | Feb 26, 2026 |
| GAA | 617 | Feb 26, 2026 |
| GALC | 245 | Feb 26, 2026 |
| GALK1 | 105 | Feb 26, 2026 |
| GALT | 309 | Feb 26, 2026 |
| GAMT | 147 | Feb 26, 2026 |
| GAREM2 | 90 | Feb 26, 2026 |
| GATAD1 | 126 | Feb 26, 2026 |
| GBA1 | 437 | Feb 26, 2026 |
| GBE1 | 186 | Feb 26, 2026 |
| GCDH | 197 | Feb 26, 2026 |
| GFM1 | 166 | Feb 26, 2026 |
| GFM2 | 1 | Feb 9, 2022 |
| GJB1 | 44 | Feb 26, 2026 |
| GJB2 | 185 | Feb 26, 2026 |
| GLA | 71 | Feb 26, 2026 |
| GLB1 | 104 | Feb 26, 2026 |
| GLDC | 401 | Feb 26, 2026 |
| GLE1 | 120 | Feb 26, 2026 |
| GML | 7 | Feb 26, 2026 |
| GNE | 202 | Feb 26, 2026 |
| GNPTAB | 279 | Feb 26, 2026 |
| GNPTG | 186 | Feb 26, 2026 |
| GNS | 75 | Feb 26, 2026 |
| GPHN | 127 | Feb 26, 2026 |
| GRHPR | 95 | Feb 26, 2026 |
| HADHA | 158 | Feb 26, 2026 |
| HAX1 | 83 | Feb 26, 2026 |
| HBA1 | 146 | Feb 26, 2026 |
| HBA2 | 192 | Feb 26, 2026 |
| HBB | 218 | Feb 26, 2026 |
| HEXA | 347 | Feb 26, 2026 |
| HEXB | 156 | Feb 26, 2026 |
| HGSNAT | 211 | Feb 26, 2026 |
| HJV | 78 | Feb 26, 2026 |
| HLCS | 164 | Feb 26, 2026 |
| HMGCL | 95 | Feb 26, 2026 |
| HNRNPH2 | 3 | Jul 1, 2025 |
| HOGA1 | 110 | Feb 26, 2026 |
| HPS1 | 166 | Feb 26, 2026 |
| HPS3 | 192 | Feb 26, 2026 |
| HSD17B4 | 170 | Feb 26, 2026 |
| HSD3B2 | 90 | Feb 26, 2026 |
| HYAL1 | 74 | Feb 26, 2026 |
| HYLS1 | 58 | Feb 26, 2026 |
| IDS | 87 | Feb 26, 2026 |
| IDUA | 352 | Feb 26, 2026 |
| IL2RG | 49 | Feb 26, 2026 |
| ITGA4 | 6 | Feb 26, 2026 |
| ITGB4 | 1 | Feb 9, 2022 |
| IVD | 140 | Feb 26, 2026 |
| KCNJ11 | 89 | Feb 26, 2026 |
| KIRREL2 | 23 | Feb 26, 2026 |
| KLF1 | 1 | Feb 26, 2026 |
| LCA5 | 177 | Feb 26, 2026 |
| LDLR | 385 | Feb 26, 2026 |
| LDLR-AS1 | 19 | Feb 26, 2026 |
| LDLRAP1 | 87 | Feb 26, 2026 |
| LHX3 | 83 | Feb 26, 2026 |
| LIFR | 194 | Feb 26, 2026 |
| LIPA | 118 | Feb 26, 2026 |
| LOC101929270 | 48 | Feb 26, 2026 |
| LOC105378311 | 7 | Jul 1, 2025 |
| LOC106050102 | 47 | Feb 26, 2026 |
| LOC106099062 | 164 | Feb 26, 2026 |
| LOC106627981 | 417 | Feb 26, 2026 |
| LOC106799834 | 182 | Feb 26, 2026 |
| LOC106804612 | 192 | Feb 26, 2026 |
| LOC106804613 | 143 | Feb 26, 2026 |
| LOC107032825 | 1 | Feb 9, 2022 |
| LOC107133510 | 218 | Feb 26, 2026 |
| LOC107303343 | 22 | Feb 26, 2026 |
| LOC107457585 | 13 | Feb 26, 2026 |
| LOC107882126 | 4 | Jul 1, 2025 |
| LOC108863620 | 2 | Feb 26, 2026 |
| LOC109029530 | 10 | Feb 26, 2026 |
| LOC110006319 | 60 | Feb 26, 2026 |
| LOC110121121 | 1 | Feb 26, 2026 |
| LOC110121471 | 9 | Feb 26, 2026 |
| LOC110386951 | 2 | Feb 26, 2026 |
| LOC111674463 | 48 | Jul 1, 2025 |
| LOC111674472 | 143 | Feb 26, 2026 |
| LOC111674475 | 44 | Feb 26, 2026 |
| LOC111674477 | 65 | Feb 26, 2026 |
| LOC111982869 | 14 | Feb 26, 2026 |
| LOC112136095 | 6 | Jul 1, 2025 |
| LOC112272621 | 6 | Jul 1, 2025 |
| LOC112486223 | 39 | Feb 26, 2026 |
| LOC113633875 | 1 | Dec 28, 2020 |
| LOC113633877 | 3 | Feb 26, 2026 |
| LOC113664106 | 18 | Feb 26, 2026 |
| LOC113687175 | 19 | Feb 26, 2026 |
| LOC117125594 | 28 | Feb 26, 2026 |
| LOC121815974 | 12 | Feb 26, 2026 |
| LOC122152296 | 43 | Feb 26, 2026 |
| LOC122787137 | 5 | Feb 26, 2026 |
| LOC123956210 | 21 | Feb 26, 2026 |
| LOC125177393 | 24 | Feb 26, 2026 |
| LOC125446261 | 12 | Feb 26, 2026 |
| LOC126806252 | 51 | Feb 26, 2026 |
| LOC126806368 | 1 | Jul 1, 2025 |
| LOC126806373 | 18 | Feb 26, 2026 |
| LOC126806400 | 17 | Feb 26, 2026 |
| LOC126806807 | 2 | Jul 1, 2025 |
| LOC126807318 | 12 | Feb 26, 2026 |
| LOC126859690 | 95 | Feb 26, 2026 |
| LOC126860438 | 13 | Feb 26, 2026 |
| LOC126860531 | 16 | Jul 1, 2025 |
| LOC126861244 | 12 | Jul 1, 2025 |
| LOC126861615 | 18 | Feb 26, 2026 |
| LOC126862097 | 6 | Feb 26, 2026 |
| LOC126862115 | 13 | Feb 26, 2026 |
| LOC126862264 | 55 | Feb 26, 2026 |
| LOC126862361 | 17 | Feb 26, 2026 |
| LOC126862860 | 12 | Feb 26, 2026 |
| LOC126863274 | 8 | Jul 1, 2025 |
| LOC129388857 | 5 | Feb 26, 2026 |
| LOC129390514 | 6 | Feb 26, 2026 |
| LOC129390683 | 4 | Feb 26, 2026 |
| LOC129391064 | 13 | Feb 26, 2026 |
| LOC129391306 | 5 | Feb 9, 2022 |
| LOC129929773 | 17 | Feb 26, 2026 |
| LOC129930245 | 2 | Feb 26, 2026 |
| LOC129930446 | 24 | Feb 26, 2026 |
| LOC129930561 | 19 | Feb 26, 2026 |
| LOC129931648 | 8 | Feb 26, 2026 |
| LOC129933372 | 3 | Feb 26, 2026 |
| LOC129933843 | 16 | Feb 26, 2026 |
| LOC129935172 | 14 | Jul 1, 2025 |
| LOC129935214 | 12 | Feb 26, 2026 |
| LOC129935215 | 9 | Feb 26, 2026 |
| LOC129935625 | 1 | Jul 1, 2025 |
| LOC129935730 | 9 | Feb 26, 2026 |
| LOC129936056 | 11 | Jul 1, 2025 |
| LOC129936434 | 3 | Feb 26, 2026 |
| LOC129936949 | 4 | Jul 1, 2025 |
| LOC129938008 | 2 | Jul 1, 2025 |
| LOC129992144 | 10 | Feb 26, 2026 |
| LOC129992330 | 6 | Feb 26, 2026 |
| LOC129992585 | 19 | Feb 26, 2026 |
| LOC129994126 | 37 | Feb 26, 2026 |
| LOC129994460 | 6 | Feb 26, 2026 |
| LOC129996727 | 14 | Feb 26, 2026 |
| LOC129998796 | 11 | Feb 26, 2026 |
| LOC129998833 | 5 | Feb 26, 2026 |
| LOC129998967 | 1 | Feb 26, 2026 |
| LOC130000316 | 42 | Feb 26, 2026 |
| LOC130001397 | 1 | Jul 1, 2025 |
| LOC130001683 | 33 | Feb 26, 2026 |
| LOC130005193 | 8 | Feb 26, 2026 |
| LOC130006596 | 12 | Jul 1, 2025 |
| LOC130006700 | 1 | Jul 1, 2025 |
| LOC130006765 | 10 | Feb 26, 2026 |
| LOC130009240 | 17 | Feb 26, 2026 |
| LOC130009366 | 21 | Feb 26, 2026 |
| LOC130009838 | 5 | Jul 1, 2025 |
| LOC130009913 | 23 | Feb 26, 2026 |
| LOC130055323 | 5 | Feb 26, 2026 |
| LOC130055324 | 3 | Feb 26, 2026 |
| LOC130056217 | 13 | Feb 26, 2026 |
| LOC130056519 | 9 | Feb 26, 2026 |
| LOC130056921 | 10 | Feb 26, 2026 |
| LOC130057734 | 2 | Feb 9, 2022 |
| LOC130057891 | 18 | Feb 26, 2026 |
| LOC130058158 | 33 | Feb 26, 2026 |
| LOC130058443 | 6 | Feb 26, 2026 |
| LOC130059837 | 13 | Feb 26, 2026 |
| LOC130060040 | 19 | Feb 26, 2026 |
| LOC130060041 | 30 | Feb 26, 2026 |
| LOC130060113 | 17 | Feb 26, 2026 |
| LOC130060903 | 31 | Feb 26, 2026 |
| LOC130061271 | 12 | Feb 26, 2026 |
| LOC130061900 | 6 | Feb 26, 2026 |
| LOC130062945 | 33 | Feb 26, 2026 |
| LOC130063376 | 4 | Feb 26, 2026 |
| LOC130063648 | 1 | Jul 1, 2025 |
| LOC130063650 | 17 | Feb 26, 2026 |
| LOC130064595 | 10 | Feb 26, 2026 |
| LOC130064709 | 7 | Feb 26, 2026 |
| LOC130065433 | 35 | Feb 26, 2026 |
| LOC130066813 | 9 | Feb 26, 2026 |
| LOC130067862 | 70 | Feb 26, 2026 |
| LOC130067864 | 9 | Feb 26, 2026 |
| LOC130068093 | 4 | Feb 9, 2022 |
| LOC130068458 | 2 | Feb 9, 2022 |
| LOC130068781 | 6 | Jul 1, 2025 |
| LOC132089454 | 1 | Feb 26, 2026 |
| LOC132090059 | 10 | Feb 26, 2026 |
| LOC132090445 | 3 | Feb 26, 2026 |
| LOC132090450 | 10 | Feb 26, 2026 |
| LOXHD1 | 534 | Feb 26, 2026 |
| LPL | 113 | Feb 26, 2026 |
| LRPPRC | 264 | Feb 26, 2026 |
| MAN2B1 | 268 | Feb 26, 2026 |
| MCCC1 | 188 | Feb 26, 2026 |
| MCCC2 | 182 | Feb 26, 2026 |
| MCOLN1 | 159 | Feb 26, 2026 |
| MED17 | 126 | Feb 26, 2026 |
| MEFV | 220 | Feb 26, 2026 |
| MESP2 | 111 | Feb 26, 2026 |
| MFF-DT | 517 | Feb 26, 2026 |
| MFSD8 | 167 | Feb 26, 2026 |
| MINK1 | 1 | Feb 26, 2026 |
| MIR4685 | 1 | Feb 26, 2026 |
| MIR4713HG | 107 | Feb 26, 2026 |
| MIR6753 | 1 | Feb 26, 2026 |
| MIR6886 | 4 | Feb 26, 2026 |
| MIR711 | 4 | Feb 26, 2026 |
| MKS1 | 186 | Feb 26, 2026 |
| MLC1 | 120 | Feb 26, 2026 |
| MMAA | 115 | Feb 26, 2026 |
| MMAB | 101 | Feb 26, 2026 |
| MMACHC | 160 | Feb 26, 2026 |
| MMADHC | 63 | Feb 26, 2026 |
| MMUT | 231 | Feb 26, 2026 |
| MPI | 126 | Feb 26, 2026 |
| MPL | 153 | Feb 26, 2026 |
| MPV17 | 58 | Feb 26, 2026 |
| MRPL36 | 4 | Jul 1, 2025 |
| MTHFR | 163 | Feb 26, 2026 |
| MTM1 | 63 | Feb 26, 2026 |
| MTRR | 150 | Feb 26, 2026 |
| MTTP | 188 | Feb 26, 2026 |
| MVK | 21 | Feb 26, 2026 |
| MYO7A | 866 | Feb 26, 2026 |
| NADSYN1 | 2 | Dec 28, 2020 |
| NAGLU | 210 | Feb 26, 2026 |
| NAGS | 98 | Feb 26, 2026 |
| NBN | 381 | Feb 26, 2026 |
| NDRG1 | 150 | Feb 26, 2026 |
| NDUFAF5 | 120 | Feb 26, 2026 |
| NDUFS6 | 38 | Feb 26, 2026 |
| NDUFS7 | 2 | Dec 28, 2020 |
| NEB | 2135 | Feb 26, 2026 |
| NICN1 | 14 | Feb 26, 2026 |
| NPC1 | 373 | Feb 26, 2026 |
| NPC2 | 31 | Feb 26, 2026 |
| NPHS1 | 322 | Feb 26, 2026 |
| NPHS2 | 114 | Feb 26, 2026 |
| NR2E3 | 190 | Feb 26, 2026 |
| NTRK1 | 308 | Feb 26, 2026 |
| OAT | 115 | Feb 26, 2026 |
| OPA3 | 39 | Feb 26, 2026 |
| OSGIN2 | 2 | Feb 9, 2022 |
| OTC | 56 | Feb 26, 2026 |
| PAH | 342 | Feb 26, 2026 |
| PCCA | 224 | Feb 26, 2026 |
| PCCB | 189 | Feb 26, 2026 |
| PCDH15 | 556 | Feb 26, 2026 |
| PDHA1 | 45 | Feb 26, 2026 |
| PDHB | 58 | Feb 26, 2026 |
| PEX1 | 409 | Feb 26, 2026 |
| PEX10 | 151 | Feb 26, 2026 |
| PEX2 | 85 | Feb 26, 2026 |
| PEX6 | 260 | Feb 26, 2026 |
| PEX7 | 115 | Feb 26, 2026 |
| PFKM | 108 | Feb 26, 2026 |
| PGK1 | 2 | Feb 9, 2022 |
| PHF3 | 133 | Feb 26, 2026 |
| PHGDH | 125 | Feb 26, 2026 |
| PIRC66 | 107 | Feb 26, 2026 |
| PKHD1 | 1904 | Feb 26, 2026 |
| PKIG | 1 | Feb 26, 2026 |
| PLCH2 | 3 | Feb 26, 2026 |
| PLXNB3-AS1 | 80 | Feb 26, 2026 |
| PMM2 | 159 | Feb 26, 2026 |
| POMGNT1 | 230 | Feb 26, 2026 |
| POMT1 | 1 | Feb 26, 2026 |
| PPT1 | 120 | Feb 26, 2026 |
| PROP1 | 74 | Feb 26, 2026 |
| PSAP | 152 | Feb 26, 2026 |
| PTS | 65 | Feb 26, 2026 |
| PUS1 | 93 | Feb 26, 2026 |
| PUS3 | 58 | Feb 26, 2026 |
| PYGM | 287 | Feb 26, 2026 |
| PYY | 16 | Feb 26, 2026 |
| RAB23 | 40 | Feb 26, 2026 |
| RAG2 | 144 | Feb 26, 2026 |
| RAPSN | 174 | Feb 26, 2026 |
| RARS2 | 187 | Feb 26, 2026 |
| RBM48 | 1 | Dec 28, 2020 |
| RDH12 | 127 | Feb 26, 2026 |
| RIF1 | 429 | Feb 26, 2026 |
| RLIG1 | 26 | Feb 26, 2026 |
| RMRP | 259 | Feb 26, 2026 |
| RPE65 | 213 | Feb 26, 2026 |
| RPGRIP1L | 418 | Feb 26, 2026 |
| RPL36A-HNRNPH2 | 71 | Feb 26, 2026 |
| RS1 | 38 | Feb 26, 2026 |
| RTEL1 | 518 | Feb 26, 2026 |
| RTEL1-TNFRSF6B | 518 | Feb 26, 2026 |
| SACS | 790 | Feb 26, 2026 |
| SAMHD1 | 134 | Feb 26, 2026 |
| SCO2 | 60 | Feb 26, 2026 |
| SEPSECS | 102 | Feb 26, 2026 |
| SGCA | 153 | Feb 26, 2026 |
| SGCB | 109 | Feb 26, 2026 |
| SGCG | 112 | Feb 26, 2026 |
| SGSH | 198 | Feb 26, 2026 |
| SLC12A3 | 354 | Feb 26, 2026 |
| SLC12A6 | 184 | Feb 26, 2026 |
| SLC17A5 | 97 | Feb 26, 2026 |
| SLC22A5 | 327 | Feb 26, 2026 |
| SLC25A13 | 158 | Feb 26, 2026 |
| SLC25A15 | 74 | Feb 26, 2026 |
| SLC26A1 | 56 | Feb 26, 2026 |
| SLC26A11 | 4 | Feb 26, 2026 |
| SLC26A2 | 143 | Feb 26, 2026 |
| SLC26A4 | 348 | Feb 26, 2026 |
| SLC26A4-AS1 | 23 | Feb 26, 2026 |
| SLC35A1 | 1 | Feb 9, 2022 |
| SLC35A3 | 84 | Feb 26, 2026 |
| SLC37A4 | 150 | Feb 26, 2026 |
| SLC39A4 | 193 | Feb 26, 2026 |
| SLC4A11 | 231 | Feb 26, 2026 |
| SLC6A8 | 81 | Jul 1, 2025 |
| SLC7A7 | 132 | Feb 26, 2026 |
| SMARCAL1 | 221 | Feb 26, 2026 |
| SMPD1 | 260 | Feb 26, 2026 |
| SPATA22 | 168 | Feb 26, 2026 |
| STAR | 77 | Feb 26, 2026 |
| SUMF1 | 110 | Feb 26, 2026 |
| SYCE2 | 12 | Feb 26, 2026 |
| TCIRG1 | 249 | Feb 26, 2026 |
| TECPR2 | 310 | Feb 26, 2026 |
| TEX12 | 1 | Feb 26, 2026 |
| TFR2 | 197 | Feb 26, 2026 |
| TGM1 | 253 | Feb 26, 2026 |
| TH | 231 | Feb 26, 2026 |
| TLDC2 | 8 | Feb 26, 2026 |
| TMEM216 | 53 | Feb 26, 2026 |
| TMPPE | 3 | Feb 26, 2026 |
| TPP1 | 249 | Feb 26, 2026 |
| TRIM54 | 1 | Feb 26, 2026 |
| TRMU | 140 | Feb 26, 2026 |
| TSFM | 71 | Feb 26, 2026 |
| TSPAN1 | 188 | Feb 26, 2026 |
| TTPA | 71 | Feb 26, 2026 |
| TYMP | 150 | Feb 26, 2026 |
| UCN | 1 | Feb 26, 2026 |
| USH1C | 205 | Feb 26, 2026 |
| USH2A | 1624 | Feb 26, 2026 |
| USH2A-AS1 | 126 | Feb 26, 2026 |
| USH2A-AS2 | 99 | Feb 26, 2026 |
| VPS13A | 518 | Feb 26, 2026 |
| VPS13A-AS1 | 7 | Feb 26, 2026 |
| VPS13B | 1040 | Feb 26, 2026 |
| VPS45 | 118 | Feb 26, 2026 |
| VRK1 | 103 | Feb 26, 2026 |
| VSX2 | 75 | Feb 26, 2026 |
| WNT10A | 108 | Feb 26, 2026 |
| ZDHHC24 | 114 | Feb 26, 2026 |
| ZFYVE26 | 41 | Feb 26, 2026 |
| ZNF106 | 1 | Feb 9, 2022 |
| ZNF276 | 119 | Feb 26, 2026 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 22q partial monosomy | 1 test |
| 3 beta-Hydroxysteroid dehydrogenase deficiency | 4 tests |
| 3-Methylglutaconic aciduria type 3 | 6 tests |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 4 tests |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 4 tests |
| 3-phosphoglycerate dehydrogenase deficiency | 9 tests |
| 5p partial monosomy syndrome | 1 test |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 7 tests |
| ALG6-congenital disorder of glycosylation 1C | 4 tests |
| Abetalipoproteinaemia | 9 tests |
| Achondrogenesis, type IB | 7 tests |
| Achromatopsia 3 | 4 tests |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 6 tests |
| Acyl-CoA dehydrogenase 9 deficiency | 4 tests |
| Acyl-CoA oxidase deficiency | 4 tests |
| Adrenoleukodystrophy | 7 tests |
| Agenesis of the corpus callosum with peripheral neuropathy | 7 tests |
| Aicardi Goutieres syndrome | 4 tests |
| Alpha thalassemia-intellectual disability syndrome type 1 | 3 tests |
| Alstrom syndrome | 4 tests |
| Angelman syndrome | 1 test |
| Anomaly of sex chromosome | 2 tests |
| Argininosuccinate lyase deficiency | 7 tests |
| Aromatase deficiency | 4 tests |
| Aspartylglucosaminuria | 7 tests |
| Ataxia-telangiectasia syndrome | 9 tests |
| Autism spectrum disorder - epilepsy - arthrogryposis syndrome | 9 tests |
| Autosomal chromosomal disorder | 2 tests |
| Autosomal dominant Alport syndrome | 9 tests |
| Autosomal recessive DOPA responsive dystonia | 7 tests |
| Autosomal recessive congenital ichthyosis 1 | 7 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 7 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 6 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 7 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 7 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 7 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 77 | 6 tests |
| Autosomal recessive osteopetrosis 1 | 4 tests |
| Autosomal recessive polycystic kidney disease | 16 tests |
| Bardet-Biedl syndrome 1 | 7 tests |
| Bardet-Biedl syndrome 10 | 7 tests |
| Bardet-Biedl syndrome 12 | 4 tests |
| Bardet-Biedl syndrome 2 | 5 tests |
| Bartter syndrome | 4 tests |
| Becker muscular dystrophy | 22 tests |
| Bifunctional peroxisomal enzyme deficiency | 7 tests |
| Bilateral frontoparietal polymicrogyria | 4 tests |
| Biotinidase deficiency | 7 tests |
| Bloom syndrome | 11 tests |
| Carnitine palmitoyl transferase 1A deficiency | 7 tests |
| Carnitine palmitoyltransferase II deficiency | 9 tests |
| Carpenter syndrome | 4 tests |
| Ceroid lipofuscinosis, neuronal, 6A | 7 tests |
| Charcot-Marie-Tooth disease | 3 tests |
| Charcot-Marie-Tooth disease type 4D | 4 tests |
| Charlevoix-Saguenay spastic ataxia | 3 tests |
| Cholestanol storage disease | 9 tests |
| Choroideremia | 3 tests |
| Chromosome 1p36 deletion syndrome | 1 test |
| Ciliopathy | 4 tests |
| Citrin deficiency | 7 tests |
| Citrullinemia type I | 11 tests |
| Classic homocystinuria | 7 tests |
| Cobalamin C disease | 11 tests |
| Cohen syndrome | 4 tests |
| Combined malonic and methylmalonic acidemia | 4 tests |
| Complete trisomy 13 syndrome | 1 test |
| Congenital amegakaryocytic thrombocytopenia | 9 tests |
| Congenital chromosomal disease | 1 test |
| Congenital disorder of glycosylation type I | 2 tests |
| Congenital hyperammonemia, type I | 4 tests |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 7 tests |
| Congenital lipoid adrenal hyperplasia due to STAR deficency | 4 tests |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 6 tests |
| Congenital myasthenic syndrome 4C | 9 tests |
| Congenital neutropenia-myelofibrosis-nephromegaly syndrome | 4 tests |
| Corneal dystrophy-perceptive deafness syndrome | 4 tests |
| Corticosterone 18-monooxygenase deficiency | 6 tests |
| Corticosterone methyloxidase type 2 deficiency | 6 tests |
| Creatine transporter deficiency | 3 tests |
| Cystic fibrosis | 32 tests |
| Cystinosis | 9 tests |
| Decreased circulating carnitine concentration | 7 tests |
| Deficiency of acetyl-CoA acetyltransferase | 4 tests |
| Deficiency of alpha-mannosidase | 7 tests |
| Deficiency of galactokinase | 4 tests |
| Deficiency of guanidinoacetate methyltransferase | 4 tests |
| Deficiency of hyaluronoglucosaminidase | 4 tests |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 7 tests |
| Deficiency of steroid 17-alpha-monooxygenase | 4 tests |
| Diabetes insipidus, nephrogenic, autosomal | 4 tests |
| Dizygotic twins | 1 test |
| Down syndrome | 1 test |
| Duchenne muscular dystrophy | 22 tests |
| Dyskeratosis congenita, autosomal recessive 5 | 7 tests |
| Ehlers-Danlos syndrome, dermatosparaxis type | 9 tests |
| Ellis-van Creveld syndrome | 4 tests |
| Enhanced S-cone syndrome | 6 tests |
| Epidermolysis bullosa dystrophica | 4 tests |
| Ethylmalonic encephalopathy | 7 tests |
| Fabry disease | 3 tests |
| Familial Mediterranean fever | 6 tests |
| Familial dysautonomia | 16 tests |
| Familial hypercholesterolemia | 1 test |
| Familial hypokalemia-hypomagnesemia | 4 tests |
| Familial isolated deficiency of vitamin E | 7 tests |
| Fanconi anemia complementation group A | 6 tests |
| Fanconi anemia complementation group C | 11 tests |
| Fanconi anemia complementation group G | 4 tests |
| Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 4 tests |
| Finnish congenital nephrotic syndrome | 7 tests |
| Fragile X syndrome | 16 tests |
| Fumarase deficiency | 7 tests |
| GM1 gangliosidosis | 7 tests |
| GNE myopathy | 9 tests |
| GNPTG-mucolipidosis | 4 tests |
| GRACILE syndrome | 7 tests |
| Galactosemia | 16 tests |
| Galactosylceramide beta-galactosidase deficiency | 7 tests |
| Gaucher disease | 16 tests |
| Glucose-6-phosphate transport defect | 7 tests |
| Glutaric acidemia IIa | 4 tests |
| Glutaric acidemia IIc | 4 tests |
| Glutaric aciduria, type 1 | 7 tests |
| Glycine encephalopathy | 7 tests |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 11 tests |
| Glycogen storage disease type III | 9 tests |
| Glycogen storage disease, type II | 9 tests |
| Glycogen storage disease, type IV | 6 tests |
| Glycogen storage disease, type V | 6 tests |
| Glycogen storage disease, type VII | 6 tests |
| Granulomatous disease, chronic, X-linked | 6 tests |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 6 tests |
| Hemochromatosis type 2A | 4 tests |
| Hemochromatosis type 3 | 4 tests |
| Hemoglobinopathy | 16 tests |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 4 tests |
| Hereditary acrodermatitis enteropathica | 4 tests |
| Hereditary disease | 1 test |
| Hereditary factor IX deficiency disease | 3 tests |
| Hereditary factor XI deficiency disease | 6 tests |
| Hereditary fructosuria | 7 tests |
| Hereditary insensitivity to pain with anhidrosis | 6 tests |
| Hereditary spastic paraplegia 49 | 6 tests |
| Hermansky-Pudlak syndrome 1 | 4 tests |
| Hermansky-Pudlak syndrome 3 | 9 tests |
| Histiocytic medullary reticulosis | 6 tests |
| Holocarboxylase synthetase deficiency | 4 tests |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 6 tests |
| Hydrolethalus syndrome | 4 tests |
| Hyperammonemia, type III | 4 tests |
| Hypercholesterolemia, familial, 1 | 5 tests |
| Hypercholesterolemia, familial, 4 | 4 tests |
| Hyperinsulinemic hypoglycemia, familial, 1 | 9 tests |
| Hyperinsulinemic hypoglycemia, familial, 2 | 4 tests |
| Hyperlipoproteinemia, type I | 4 tests |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 7 tests |
| Hypohidrotic X-linked ectodermal dysplasia | 3 tests |
| Hypophosphatasia | 7 tests |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 4 tests |
| Isolated microphthalmia 2 | 6 tests |
| Isovaleryl-CoA dehydrogenase deficiency | 11 tests |
| Joubert syndrome 2 | 9 tests |
| Juvenile retinoschisis | 3 tests |
| Kartagener syndrome | 6 tests |
| Kidney Transplant Rejection | 1 test |
| Kostmann syndrome | 4 tests |
| Leber congenital amaurosis | 4 tests |
| Leber congenital amaurosis 2 | 6 tests |
| Lethal congenital contracture syndrome 1 | 4 tests |
| Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 7 tests |
| Lysinuric protein intolerance | 7 tests |
| METHYLMALONIC ACIDURIA, mut(0) TYPE | 4 tests |
| MHC class II deficiency 1 | 4 tests |
| MPI-congenital disorder of glycosylation | 7 tests |
| Maple syrup urine disease type 1A | 7 tests |
| Maple syrup urine disease type 1B | 9 tests |
| Meckel syndrome, type 1 | 4 tests |
| Meckel syndrome, type 2 | 9 tests |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 16 tests |
| Megalencephalic leukoencephalopathy with subcortical cysts | 9 tests |
| Menkes kinky-hair syndrome | 3 tests |
| Metachromatic leukodystrophy | 9 tests |
| Metaphyseal chondrodysplasia, McKusick type | 7 tests |
| Methylcobalamin deficiency type cblE | 4 tests |
| Methylmalonic aciduria and homocystinuria type cblD | 4 tests |
| Methylmalonic aciduria, cblA type | 4 tests |
| Methylmalonic aciduria, cblB type | 4 tests |
| Microcephaly, normal intelligence and immunodeficiency | 7 tests |
| Miscarriage | 1 test |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 4 tests |
| Mitochondrial complex I deficiency | 6 tests |
| Mitochondrial neurogastrointestinal encephalomyopathy | 6 tests |
| Mucolipidosis type IV | 11 tests |
| Mucopolysaccharidosis type 1 | 11 tests |
| Mucopolysaccharidosis type 6 | 4 tests |
| Mucopolysaccharidosis, MPS-II | 3 tests |
| Mucopolysaccharidosis, MPS-III-A | 7 tests |
| Mucopolysaccharidosis, MPS-III-B | 4 tests |
| Mucopolysaccharidosis, MPS-III-C | 4 tests |
| Mucopolysaccharidosis, MPS-III-D | 4 tests |
| Mucopolysaccharidosis, MPS-IV-B | 7 tests |
| Multiple congenital anomalies | 1 test |
| Multiple sulfatase deficiency | 9 tests |
| Muscle eye brain disease | 7 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 9 tests |
| Myopathy, lactic acidosis, and sideroblastic anemia | 6 tests |
| Nemaline myopathy | 9 tests |
| Nephrotic syndrome, type 2 | 7 tests |
| Neuronal ceroid lipofuscinosis 1 | 7 tests |
| Neuronal ceroid lipofuscinosis 2 | 7 tests |
| Neuronal ceroid lipofuscinosis 3 | 11 tests |
| Neuronal ceroid lipofuscinosis 5 | 7 tests |
| Neuronal ceroid lipofuscinosis 7 | 4 tests |
| Neuronal ceroid lipofuscinosis 8 | 7 tests |
| Niemann-Pick disease, type A | 11 tests |
| Niemann-Pick disease, type C1 | 7 tests |
| Niemann-Pick disease, type C2 | 4 tests |
| Niemann-Pick disease, type D | 7 tests |
| Non-acquired combined pituitary hormone deficiency with spine abnormalities | 4 tests |
| Nonsyndromic Deafness | 9 tests |
| Ornithine aminotransferase deficiency | 6 tests |
| Ornithine carbamoyltransferase deficiency | 6 tests |
| PMM2-congenital disorder of glycosylation | 7 tests |
| Pendred syndrome | 7 tests |
| Peroxisome biogenesis disorder | 11 tests |
| Phenylketonuria | 9 tests |
| Pituitary hormone deficiency, combined, 2 | 7 tests |
| Polyglandular autoimmune syndrome, type 1 | 6 tests |
| Pontocerebellar hypoplasia type 1A | 6 tests |
| Pontocerebellar hypoplasia type 2D | 6 tests |
| Pontocerebellar hypoplasia type 6 | 6 tests |
| Prader-Willi syndrome | 1 test |
| Pregnancy loss, recurrent, 4 | 1 test |
| Primary ciliary dyskinesia 3 | 6 tests |
| Primary ciliary dyskinesia 9 | 6 tests |
| Primary hyperoxaluria type 3 | 6 tests |
| Primary hyperoxaluria, type I | 7 tests |
| Primary hyperoxaluria, type II | 7 tests |
| Progressive familial intrahepatic cholestasis type 2 | 4 tests |
| Propionic acidemia | 7 tests |
| Pseudo-Hurler polydystrophy | 7 tests |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 2 tests |
| Pyknodysostosis | 7 tests |
| Pyruvate dehydrogenase E1-alpha deficiency | 3 tests |
| Pyruvate dehydrogenase E1-beta deficiency | 4 tests |
| Pyruvate dehydrogenase E3 deficiency | 9 tests |
| Renal tubular acidosis with progressive nerve deafness | 6 tests |
| Retinal dystrophy | 4 tests |
| Retinitis pigmentosa 25 | 6 tests |
| Retinitis pigmentosa 26 | 6 tests |
| Retinitis pigmentosa 28 | 6 tests |
| Retinitis pigmentosa 59 | 9 tests |
| Rhizomelic chondrodysplasia punctata type 1 | 11 tests |
| Rhizomelic chondrodysplasia punctata type 3 | 4 tests |
| Roberts-SC phocomelia syndrome | 4 tests |
| SLC35A2-congenital disorder of glycosylation | 2 tests |
| Salla disease | 7 tests |
| Sandhoff disease | 7 tests |
| Schimke immuno-osseous dysplasia | 4 tests |
| Schöpf-Schulz-Passarge syndrome | 4 tests |
| Severe X-linked myotubular myopathy | 3 tests |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 7 tests |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 7 tests |
| Sjögren-Larsson syndrome | 7 tests |
| Smith-Lemli-Opitz syndrome | 16 tests |
| Solid tumor | 1 test |
| Sphingolipid activator protein 1 deficiency | 4 tests |
| Spinal muscular atrophy | 32 tests |
| Spondylocostal dysostosis 2, autosomal recessive | 4 tests |
| Spongy degeneration of central nervous system | 16 tests |
| Stuve-Wiedemann syndrome | 4 tests |
| Tay-Sachs disease | 27 tests |
| Triploidy | 1 test |
| Trisomy 18 | 1 test |
| Turner syndrome | 1 test |
| Twinning, monozygotic | 1 test |
| Tyrosinemia type I | 11 tests |
| Usher syndrome type 1B | 7 tests |
| Usher syndrome type 1C | 7 tests |
| Usher syndrome type 1D | 7 tests |
| Usher syndrome type 1F | 9 tests |
| Usher syndrome type 2A | 9 tests |
| Usher syndrome type 3 | 9 tests |
| VPS13A-related neurodegenerative disease | 6 tests |
| Vanishing white matter disease | 7 tests |
| Very long chain acyl-CoA dehydrogenase deficiency | 7 tests |
| Wilson disease | 9 tests |
| Wolman disease | 6 tests |
| X-linked Alport syndrome | 3 tests |
| X-linked Emery-Dreifuss muscular dystrophy | 3 tests |
| X-linked severe combined immunodeficiency | 5 tests |
| alpha Thalassemia | 16 tests |