Athena Diagnostics Inc
General information
Athena Diagnostics Inc
200 Forest Street
2nd Floor
Marlborough
Massachusetts
United States - 01752
http://www.athenadiagnostics.com/
Organization ID: 1012
200 Forest Street
2nd Floor
Marlborough
Massachusetts
United States - 01752
http://www.athenadiagnostics.com/
Organization ID: 1012
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: 17228
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABAT | 14 | Dec 30, 2020 |
| ABCC8 | 87 | Sep 13, 2021 |
| ABCD1 | 30 | Sep 13, 2021 |
| ABHD12 | 4 | Sep 25, 2019 |
| ACTA1 | 1 | Sep 25, 2019 |
| ACTB | 4 | Sep 13, 2021 |
| ACTG1 | 13 | Sep 13, 2021 |
| ACTN4 | 22 | Dec 30, 2020 |
| ADCY1 | 6 | Sep 25, 2019 |
| ADGRG1 | 22 | Sep 13, 2021 |
| ADGRV1 | 120 | Sep 13, 2021 |
| ADSL | 10 | Sep 13, 2021 |
| AFG3L2 | 53 | Sep 13, 2021 |
| AGRN | 28 | Sep 13, 2021 |
| AHI1 | 1 | Sep 25, 2019 |
| AIFM1 | 2 | Sep 25, 2019 |
| AIRE | 21 | Sep 13, 2021 |
| ALDH7A1 | 6 | Dec 30, 2020 |
| ALG13 | 17 | Sep 13, 2021 |
| ALG9 | 4 | Sep 13, 2021 |
| ALMS1 | 25 | Dec 30, 2020 |
| ALPL | 15 | Sep 13, 2021 |
| ALS2 | 45 | Sep 13, 2021 |
| AMT | 6 | Dec 30, 2020 |
| ANAPC15 | 2 | Sep 25, 2019 |
| ANG | 6 | Sep 13, 2021 |
| ANGPT2 | 1 | Aug 31, 2018 |
| ANKH | 3 | Dec 30, 2020 |
| ANKRD11 | 54 | Sep 13, 2021 |
| ANO10 | 53 | Sep 13, 2021 |
| ANO5 | 40 | Sep 13, 2021 |
| ANOS1 | 6 | Dec 30, 2020 |
| AP5Z1 | 64 | Sep 13, 2021 |
| APOB | 1 | Aug 17, 2017 |
| APP | 27 | Sep 13, 2021 |
| APTX | 25 | Sep 13, 2021 |
| AQP2 | 4 | Aug 31, 2018 |
| ARFGEF1-DT | 4 | Dec 30, 2020 |
| ARFGEF2 | 15 | Sep 13, 2021 |
| ARHGEF9 | 3 | Sep 25, 2019 |
| ARMS2 | 5 | Aug 31, 2018 |
| ARSA | 8 | Sep 13, 2021 |
| ARX | 4 | Sep 13, 2021 |
| ASAH1 | 13 | Dec 30, 2020 |
| ASPM | 83 | Sep 13, 2021 |
| ASTN2 | 10 | Sep 13, 2021 |
| ATL1 | 20 | Sep 13, 2021 |
| ATM | 159 | Sep 13, 2021 |
| ATP13A2 | 32 | Sep 13, 2021 |
| ATP1A2 | 41 | Sep 13, 2021 |
| ATP1A3 | 16 | Sep 13, 2021 |
| ATP2A1 | 29 | Sep 13, 2021 |
| ATP2A1-AS1 | 1 | Aug 31, 2018 |
| ATP2A2 | 8 | Sep 25, 2019 |
| ATP2B2 | 7 | Dec 30, 2020 |
| ATP6AP2 | 4 | Sep 25, 2019 |
| ATP6V0A2 | 11 | Dec 30, 2020 |
| ATP6V1B1 | 5 | Dec 30, 2020 |
| ATP6V1B1-AS1 | 1 | Aug 31, 2018 |
| ATP6V1B2 | 1 | Sep 25, 2019 |
| ATRIP | 10 | Sep 25, 2019 |
| ATRIP-TREX1 | 10 | Sep 25, 2019 |
| ATRX | 15 | Dec 30, 2020 |
| AVPR2 | 12 | Dec 30, 2020 |
| AXDND1 | 9 | Sep 13, 2021 |
| B3GNT4 | 1 | Dec 30, 2020 |
| B4GAT1 | 1 | Aug 31, 2018 |
| BAG3 | 7 | Aug 31, 2018 |
| BBS1 | 7 | Sep 25, 2019 |
| BBS10 | 3 | Aug 17, 2017 |
| BBS2 | 2 | Aug 31, 2018 |
| BCKDK | 8 | Sep 13, 2021 |
| BCS1L | 2 | Sep 25, 2019 |
| BDP1 | 13 | Sep 13, 2021 |
| BICD2 | 4 | Aug 31, 2018 |
| BIN1 | 3 | Dec 30, 2020 |
| BRAT1 | 39 | Dec 30, 2020 |
| BSCL2 | 20 | Sep 13, 2021 |
| BSND | 4 | Sep 13, 2021 |
| C10orf105 | 4 | Dec 30, 2020 |
| C11orf65 | 61 | Sep 13, 2021 |
| C12orf43 | 4 | Sep 13, 2021 |
| C17orf107 | 10 | Sep 13, 2021 |
| CABP2 | 1 | Sep 25, 2019 |
| CACNA1A | 271 | Sep 13, 2021 |
| CACNA1D | 10 | Dec 30, 2020 |
| CACNA1H | 143 | Sep 13, 2021 |
| CACNA1S | 67 | Sep 13, 2021 |
| CACNA2D1 | 12 | Sep 25, 2019 |
| CACNA2D1-AS1 | 2 | Aug 17, 2017 |
| CACNA2D2 | 13 | Dec 30, 2020 |
| CACNB4 | 37 | Sep 13, 2021 |
| CAPN3 | 82 | Sep 13, 2021 |
| CASD1 | 27 | Sep 13, 2021 |
| CASK | 3 | Dec 30, 2020 |
| CASR | 88 | Sep 13, 2021 |
| CATIP-AS2 | 5 | Aug 31, 2018 |
| CAV3 | 20 | Sep 13, 2021 |
| CAVIN1 | 4 | Sep 13, 2021 |
| CC2D2A | 2 | Aug 17, 2017 |
| CCDC50 | 4 | Sep 25, 2019 |
| CCDC78 | 12 | Sep 13, 2021 |
| CCDC88C | 18 | Sep 13, 2021 |
| CCM2 | 15 | Sep 13, 2021 |
| CCNF | 1 | Sep 25, 2019 |
| CDC14A | 2 | Sep 25, 2019 |
| CDH23 | 37 | Sep 13, 2021 |
| CDH23-AS1 | 1 | Sep 25, 2019 |
| CDKL5 | 8 | Dec 30, 2020 |
| CEACAM16 | 4 | Dec 30, 2020 |
| CEMIP | 15 | Dec 30, 2020 |
| CENPJ | 15 | Sep 13, 2021 |
| CEP290 | 3 | Dec 30, 2020 |
| CHAT | 8 | Dec 30, 2020 |
| CHD2 | 22 | Sep 13, 2021 |
| CHD7 | 21 | Sep 13, 2021 |
| CHKB | 4 | Aug 31, 2018 |
| CHKB-CPT1B | 4 | Aug 31, 2018 |
| CHMP2B | 11 | Sep 13, 2021 |
| CHRNA1 | 5 | Sep 25, 2019 |
| CHRNA2 | 8 | Dec 30, 2020 |
| CHRNA4 | 25 | Sep 13, 2021 |
| CHRNB1 | 2 | Sep 13, 2021 |
| CHRNB2 | 14 | Dec 30, 2020 |
| CHRND | 4 | Sep 25, 2019 |
| CHRNE | 16 | Sep 13, 2021 |
| CHSY1 | 13 | Dec 30, 2020 |
| CIB2 | 2 | Sep 25, 2019 |
| CISD2 | 1 | Sep 25, 2019 |
| CIZ1 | 1 | Aug 31, 2018 |
| CLCC1 | 1 | Sep 25, 2019 |
| CLCN1 | 133 | Sep 13, 2021 |
| CLCNKA | 13 | Aug 31, 2018 |
| CLCNKB | 37 | Dec 30, 2020 |
| CLDN14 | 5 | Sep 25, 2019 |
| CLDN14-AS1 | 5 | Sep 25, 2019 |
| CLIC5 | 3 | Sep 25, 2019 |
| CLN3 | 7 | Dec 30, 2020 |
| CLN5 | 10 | Sep 25, 2019 |
| CLN6 | 10 | Sep 13, 2021 |
| CLN8 | 9 | Dec 30, 2020 |
| CLPP | 4 | Sep 25, 2019 |
| CLRN1 | 2 | Dec 30, 2020 |
| CNTN1 | 6 | Dec 30, 2020 |
| CNTNAP2 | 30 | Sep 13, 2021 |
| COCH | 1 | Dec 30, 2020 |
| COL11A1 | 9 | Dec 30, 2020 |
| COL11A2 | 9 | Dec 30, 2020 |
| COL18A1 | 32 | Aug 31, 2018 |
| COL1A1 | 76 | Sep 13, 2021 |
| COL1A2 | 42 | Sep 13, 2021 |
| COL2A1 | 15 | Dec 30, 2020 |
| COL4A1 | 61 | Sep 13, 2021 |
| COL4A2 | 1 | Sep 13, 2021 |
| COL4A3 | 63 | Sep 13, 2021 |
| COL4A4 | 84 | Sep 13, 2021 |
| COL4A5 | 79 | Sep 13, 2021 |
| COL4A6 | 7 | Dec 30, 2020 |
| COL6A1 | 20 | Dec 30, 2020 |
| COL6A2 | 23 | Dec 30, 2020 |
| COL6A3 | 51 | Sep 13, 2021 |
| COL9A1 | 10 | Dec 30, 2020 |
| COL9A2 | 15 | Dec 30, 2020 |
| COL9A3 | 15 | Dec 30, 2020 |
| COLQ | 6 | Sep 13, 2021 |
| COQ8A | 85 | Sep 13, 2021 |
| CPA6 | 8 | Dec 30, 2020 |
| CPLANE1 | 1 | Aug 31, 2018 |
| CPT2 | 13 | Dec 30, 2020 |
| CRH | 4 | Sep 13, 2021 |
| CRPPA | 12 | Sep 13, 2021 |
| CRPPA-AS1 | 4 | Dec 30, 2020 |
| CRYAB | 3 | Dec 30, 2020 |
| CRYM | 1 | Sep 25, 2019 |
| CSTB | 8 | Sep 13, 2021 |
| CTSD | 9 | Sep 25, 2019 |
| CTSF | 15 | Dec 30, 2020 |
| CTXN2-AS1 | 8 | Dec 30, 2020 |
| CUL4B | 7 | Sep 25, 2019 |
| CYB561D2 | 7 | Dec 30, 2020 |
| CYP11B1 | 45 | Sep 13, 2021 |
| CYP17A1 | 3 | Aug 31, 2018 |
| CYP21A2 | 39 | Sep 13, 2021 |
| CYP27A1 | 16 | Dec 30, 2020 |
| CYP7B1 | 13 | Sep 13, 2021 |
| DAG1 | 24 | Sep 13, 2021 |
| DCDC2 | 5 | Dec 30, 2020 |
| DCTN1 | 32 | Sep 13, 2021 |
| DCX | 2 | Sep 25, 2019 |
| DEAF1 | 13 | Sep 13, 2021 |
| DEPDC5 | 27 | Dec 30, 2020 |
| DES | 29 | Sep 13, 2021 |
| DGUOK | 1 | Aug 17, 2017 |
| DGUOK-AS1 | 1 | Aug 17, 2017 |
| DHCR7 | 8 | Sep 13, 2021 |
| DIABLO | 1 | Dec 30, 2020 |
| DIAPH1 | 5 | Dec 30, 2020 |
| DIAPH3 | 7 | Dec 30, 2020 |
| DLX5 | 1 | Dec 30, 2020 |
| DM1-AS | 1 | Sep 25, 2019 |
| DMAC2L | 3 | Sep 13, 2021 |
| DMD | 209 | Sep 13, 2021 |
| DNAJB6 | 11 | Sep 13, 2021 |
| DNAJC5 | 3 | Sep 25, 2019 |
| DNM1 | 7 | Sep 25, 2019 |
| DNM2 | 49 | Sep 13, 2021 |
| DNMT1 | 3 | Dec 30, 2020 |
| DOCK7 | 18 | Dec 30, 2020 |
| DOK7 | 13 | Sep 13, 2021 |
| DPAGT1 | 3 | Dec 30, 2020 |
| DPM2 | 1 | Dec 30, 2020 |
| DPYD | 22 | Sep 13, 2021 |
| DPYD-AS1 | 5 | Dec 30, 2020 |
| DSPP | 11 | Dec 30, 2020 |
| DYNC1H1 | 60 | Sep 13, 2021 |
| DYRK1A | 6 | Sep 25, 2019 |
| DYSF | 129 | Sep 13, 2021 |
| EDN3 | 1 | Sep 25, 2019 |
| EDNRB | 5 | Sep 13, 2021 |
| EDNRB-AS1 | 4 | Sep 13, 2021 |
| EEF1A2 | 9 | Dec 30, 2020 |
| EEF2 | 96 | Sep 13, 2021 |
| EFHC1 | 22 | Sep 25, 2019 |
| EGILA | 6 | Sep 13, 2021 |
| EGR2 | 11 | Sep 13, 2021 |
| EIF2B3 | 3 | Dec 30, 2020 |
| EIF2B4 | 5 | Aug 31, 2018 |
| EIF2B5 | 3 | Aug 31, 2018 |
| ELMOD3 | 6 | Sep 13, 2021 |
| EMD | 5 | Sep 25, 2019 |
| EMX2 | 4 | Sep 25, 2019 |
| EMX2OS | 1 | Aug 17, 2017 |
| EPM2A | 15 | Sep 13, 2021 |
| EPM2A-DT | 5 | Sep 13, 2021 |
| EPS8 | 6 | Sep 25, 2019 |
| EPS8L2 | 5 | Dec 30, 2020 |
| ERCC2 | 6 | Sep 25, 2019 |
| ERCC3 | 3 | Sep 25, 2019 |
| ESPN | 3 | Dec 30, 2020 |
| ESR1 | 5 | Sep 13, 2021 |
| ESR2 | 6 | Dec 30, 2020 |
| ESRRB | 5 | Dec 30, 2020 |
| EYA1 | 3 | Sep 25, 2019 |
| EYA4 | 1 | Sep 25, 2019 |
| FA2H | 13 | Sep 13, 2021 |
| FANCI | 8 | Dec 30, 2020 |
| FBXL3 | 5 | Sep 25, 2019 |
| FGD1 | 7 | Sep 25, 2019 |
| FGD4 | 28 | Sep 13, 2021 |
| FGF14 | 19 | Sep 13, 2021 |
| FGF23 | 3 | Sep 25, 2019 |
| FGF3 | 2 | Sep 25, 2019 |
| FGF8 | 1 | Aug 31, 2018 |
| FGFR1 | 10 | Sep 13, 2021 |
| FGFR2 | 6 | Dec 30, 2020 |
| FGFR3 | 21 | Sep 13, 2021 |
| FHL1 | 8 | Sep 13, 2021 |
| FIG4 | 46 | Sep 13, 2021 |
| FKRP | 29 | Sep 13, 2021 |
| FKTN | 17 | Sep 13, 2021 |
| FLNA | 29 | Dec 30, 2020 |
| FLNC | 42 | Sep 13, 2021 |
| FLNC-AS1 | 18 | Sep 13, 2021 |
| FLVCR1 | 39 | Sep 13, 2021 |
| FOLR1 | 2 | Sep 25, 2019 |
| FOXG1 | 9 | Dec 30, 2020 |
| FOXI1 | 4 | Sep 25, 2019 |
| FTCD | 4 | Aug 31, 2018 |
| FUS | 19 | Sep 13, 2021 |
| FXN | 32 | Sep 13, 2021 |
| GABRA1 | 6 | Sep 13, 2021 |
| GABRB2 | 6 | Sep 25, 2019 |
| GABRB3 | 8 | Sep 25, 2019 |
| GABRD | 13 | Sep 25, 2019 |
| GABRG2 | 14 | Sep 13, 2021 |
| GAMT | 7 | Sep 13, 2021 |
| GARS1 | 35 | Sep 13, 2021 |
| GATA3 | 2 | Dec 30, 2020 |
| GATAD1 | 2 | Sep 25, 2019 |
| GATM | 4 | Dec 30, 2020 |
| GCH1 | 18 | Sep 13, 2021 |
| GCK | 202 | Sep 13, 2021 |
| GDAP1 | 12 | Sep 13, 2021 |
| GFAP | 27 | Sep 13, 2021 |
| GFPT1 | 4 | Dec 30, 2020 |
| GH-LCR | 133 | Sep 13, 2021 |
| GH1 | 5 | Sep 25, 2019 |
| GHR | 5 | Dec 30, 2020 |
| GIPC3 | 2 | Sep 25, 2019 |
| GJB1 | 71 | Sep 13, 2021 |
| GJB2 | 73 | Sep 13, 2021 |
| GJB3 | 8 | Sep 25, 2019 |
| GJC2 | 2 | Sep 13, 2021 |
| GLDC | 34 | Dec 30, 2020 |
| GLUD1 | 10 | Sep 25, 2019 |
| GML | 10 | Dec 30, 2020 |
| GNAO1 | 8 | Aug 31, 2018 |
| GNAO1-AS1 | 1 | Aug 31, 2018 |
| GNE | 7 | Sep 13, 2021 |
| GNG3 | 1 | Aug 17, 2017 |
| GNRH1 | 1 | Aug 31, 2018 |
| GNRHR | 1 | Aug 17, 2017 |
| GOSR2 | 6 | Dec 30, 2020 |
| GPC3 | 5 | Dec 30, 2020 |
| GPSM2 | 9 | Dec 30, 2020 |
| GRHL2 | 4 | Sep 25, 2019 |
| GRIA3 | 6 | Dec 30, 2020 |
| GRIN1 | 10 | Sep 25, 2019 |
| GRIN2A | 17 | Sep 13, 2021 |
| GRIN2B | 20 | Sep 13, 2021 |
| GRM1 | 81 | Sep 13, 2021 |
| GRN | 54 | Sep 13, 2021 |
| GRXCR1 | 2 | Sep 25, 2019 |
| GRXCR2 | 3 | Sep 25, 2019 |
| GSDME | 2 | Sep 25, 2019 |
| GTF3C2-AS2 | 3 | Aug 31, 2018 |
| HCN1 | 9 | Sep 13, 2021 |
| HCN4 | 29 | Dec 30, 2020 |
| HGF | 2 | Dec 30, 2020 |
| HNF1A | 120 | Sep 13, 2021 |
| HNF1B | 37 | Sep 13, 2021 |
| HNF4A | 73 | Sep 13, 2021 |
| HNRNPU | 7 | Sep 13, 2021 |
| HNRNPUL2-BSCL2 | 20 | Sep 13, 2021 |
| HOMER2 | 7 | Dec 30, 2020 |
| HOXB1 | 3 | Sep 25, 2019 |
| HSD11B2 | 9 | Sep 13, 2021 |
| HSD17B4 | 8 | Sep 25, 2019 |
| HSD3B2 | 5 | Sep 13, 2021 |
| HSPB1 | 26 | Sep 13, 2021 |
| HSPB3 | 4 | Aug 31, 2018 |
| HSPB8 | 11 | Sep 13, 2021 |
| HSPD1 | 11 | Sep 13, 2021 |
| HSPG2 | 259 | Sep 13, 2021 |
| HTRA1 | 20 | Sep 13, 2021 |
| IGHMBP2 | 22 | Sep 13, 2021 |
| ILDR1 | 5 | Sep 25, 2019 |
| INF2 | 30 | Sep 13, 2021 |
| INS | 8 | Dec 30, 2020 |
| INS-IGF2 | 5 | Aug 31, 2018 |
| IQSEC2 | 7 | Dec 30, 2020 |
| ITGA7 | 9 | Sep 13, 2021 |
| ITGBL1 | 4 | Sep 13, 2021 |
| ITPR1 | 169 | Sep 13, 2021 |
| KAAG1 | 1 | Dec 30, 2020 |
| KANSL1 | 26 | Dec 30, 2020 |
| KARS1 | 4 | Sep 25, 2019 |
| KBTBD13 | 6 | Sep 13, 2021 |
| KCNA1 | 29 | Sep 13, 2021 |
| KCNA2 | 5 | Sep 25, 2019 |
| KCNB1 | 5 | Aug 31, 2018 |
| KCNC1 | 7 | Sep 13, 2021 |
| KCNC3 | 41 | Sep 13, 2021 |
| KCND3 | 51 | Sep 13, 2021 |
| KCNE1 | 1 | Sep 25, 2019 |
| KCNH2 | 27 | Sep 13, 2021 |
| KCNJ1 | 7 | Dec 30, 2020 |
| KCNJ10 | 8 | Dec 30, 2020 |
| KCNJ11 | 28 | Sep 13, 2021 |
| KCNJ2 | 4 | Sep 25, 2019 |
| KCNMA1 | 21 | Sep 13, 2021 |
| KCNMA1-AS1 | 6 | Sep 13, 2021 |
| KCNQ1 | 5 | Sep 25, 2019 |
| KCNQ1-AS1 | 1 | Sep 25, 2019 |
| KCNQ2 | 19 | Dec 30, 2020 |
| KCNQ3 | 12 | Dec 30, 2020 |
| KCNQ4 | 5 | Sep 25, 2019 |
| KCNT1 | 40 | Sep 13, 2021 |
| KCTD7 | 7 | Dec 30, 2020 |
| KDM5C | 3 | Dec 30, 2020 |
| KIF1A | 61 | Sep 13, 2021 |
| KIF5A | 21 | Dec 30, 2020 |
| KIFBP | 10 | Dec 30, 2020 |
| KIRREL2 | 3 | Sep 13, 2021 |
| KISS1R | 5 | Sep 13, 2021 |
| KLHL40 | 11 | Sep 13, 2021 |
| KLHL9 | 1 | Sep 13, 2021 |
| KMT2D | 57 | Sep 13, 2021 |
| KRIT1 | 10 | Sep 13, 2021 |
| L1CAM | 16 | Sep 13, 2021 |
| L2HGDH | 15 | Sep 13, 2021 |
| LAMA2 | 84 | Sep 13, 2021 |
| LAMB2 | 16 | Sep 13, 2021 |
| LARGE1 | 17 | Sep 13, 2021 |
| LARS2 | 11 | Sep 13, 2021 |
| LARS2-AS1 | 5 | Sep 13, 2021 |
| LBR | 14 | Dec 30, 2020 |
| LDB3 | 14 | Sep 13, 2021 |
| LDLR | 12 | Aug 31, 2018 |
| LDLRAD2 | 19 | Sep 13, 2021 |
| LEPR | 14 | Sep 13, 2021 |
| LGI1 | 4 | Dec 30, 2020 |
| LHCGR | 8 | Sep 13, 2021 |
| LIAS | 5 | Sep 25, 2019 |
| LITAF | 7 | Sep 13, 2021 |
| LMNA | 44 | Sep 13, 2021 |
| LMNB2 | 12 | Sep 13, 2021 |
| LOC100130587 | 3 | Sep 13, 2021 |
| LOC100506071 | 1 | Dec 30, 2020 |
| LOC101927055 | 18 | Sep 13, 2021 |
| LOC101928008 | 20 | Sep 13, 2021 |
| LOC102724058 | 39 | Sep 13, 2021 |
| LOC105371566 | 12 | Sep 13, 2021 |
| LOC106501712 | 13 | Aug 31, 2018 |
| LOC106501713 | 33 | Dec 30, 2020 |
| LOC106780800 | 37 | Sep 13, 2021 |
| LOC106799833 | 36 | Sep 13, 2021 |
| LOC107075317 | 1 | Sep 25, 2019 |
| LOC107303340 | 2 | Dec 30, 2020 |
| LOC107652445 | 16 | Sep 13, 2021 |
| LOC107982234 | 2 | Jul 17, 2017 |
| LOC108903148 | 3 | Aug 31, 2018 |
| LOC109610631 | 1 | Sep 13, 2021 |
| LOC110121269 | 6 | Sep 13, 2021 |
| LOC110121486 | 4 | Dec 30, 2020 |
| LOC110673972 | 2 | Aug 17, 2017 |
| LOC112533671 | 2 | Aug 31, 2018 |
| LOC122094844 | 1 | Sep 25, 2019 |
| LOC122152296 | 1 | Dec 30, 2020 |
| LOC123864065 | 3 | Dec 30, 2020 |
| LOC123956210 | 1 | Aug 31, 2018 |
| LOC123956257 | 6 | Dec 30, 2020 |
| LOXHD1 | 23 | Dec 30, 2020 |
| LRP5 | 8 | Dec 30, 2020 |
| LRRC37A2 | 6 | Dec 30, 2020 |
| LRRC51 | 1 | Sep 25, 2019 |
| LRRK2 | 27 | Sep 13, 2021 |
| LRTOMT | 4 | Sep 25, 2019 |
| MAF | 5 | Aug 31, 2018 |
| MAGI2 | 17 | Dec 30, 2020 |
| MAGI2-AS3 | 2 | Sep 25, 2019 |
| MANBA | 4 | Dec 30, 2020 |
| MAP4K5 | 1 | Sep 13, 2021 |
| MAPT | 24 | Sep 13, 2021 |
| MARVELD2 | 4 | Dec 30, 2020 |
| MATR3 | 2 | Aug 17, 2017 |
| MBD5 | 14 | Dec 30, 2020 |
| MC4R | 13 | Sep 13, 2021 |
| MCM2 | 7 | Dec 30, 2020 |
| MCOLN1 | 3 | Sep 13, 2021 |
| MCPH1 | 25 | Sep 13, 2021 |
| MCPH1-AS1 | 8 | Sep 13, 2021 |
| ME2 | 3 | Aug 17, 2017 |
| MECP2 | 20 | Dec 30, 2020 |
| MEGF10 | 9 | Sep 13, 2021 |
| MEN1 | 11 | Dec 30, 2020 |
| MESD | 1 | Sep 25, 2019 |
| MET | 6 | Sep 25, 2019 |
| MFF-DT | 62 | Sep 13, 2021 |
| MFN2 | 64 | Sep 13, 2021 |
| MFSD8 | 4 | Sep 13, 2021 |
| MHRT | 5 | Aug 31, 2018 |
| MIF4GD-DT | 2 | Aug 31, 2018 |
| MIR3936HG | 2 | Dec 30, 2020 |
| MIR6084 | 2 | Aug 31, 2018 |
| MIR6511B1 | 2 | Aug 31, 2018 |
| MIR6766 | 1 | Dec 30, 2020 |
| MIR96 | 2 | Sep 25, 2019 |
| MITF | 6 | Dec 30, 2020 |
| MPV17 | 1 | Sep 13, 2021 |
| MPZ | 51 | Sep 13, 2021 |
| MRE11 | 50 | Sep 13, 2021 |
| MSRB3 | 1 | Dec 30, 2020 |
| MT-CO1 | 26 | Dec 30, 2020 |
| MT-CO2 | 11 | Dec 30, 2020 |
| MT-ND1 | 19 | Sep 13, 2021 |
| MT-RNR1 | 12 | Dec 30, 2020 |
| MT-TI | 1 | Sep 25, 2019 |
| MT-TK | 1 | Sep 25, 2019 |
| MT-TQ | 2 | Dec 30, 2020 |
| MT-TS1 | 1 | Sep 25, 2019 |
| MT-TS2 | 2 | Dec 30, 2020 |
| MTM1 | 2 | Sep 25, 2019 |
| MTMR2 | 16 | Sep 13, 2021 |
| MTPAP | 32 | Sep 13, 2021 |
| MUSK | 8 | Dec 30, 2020 |
| MYBPC3 | 9 | Dec 30, 2020 |
| MYH11 | 1 | Aug 17, 2017 |
| MYH14 | 24 | Sep 13, 2021 |
| MYH2 | 6 | Sep 13, 2021 |
| MYH7 | 19 | Sep 13, 2021 |
| MYH9 | 13 | Sep 13, 2021 |
| MYHAS | 6 | Sep 13, 2021 |
| MYO15A | 27 | Sep 13, 2021 |
| MYO3A | 10 | Dec 30, 2020 |
| MYO6 | 9 | Sep 25, 2019 |
| MYO7A | 29 | Sep 13, 2021 |
| MYOT | 15 | Sep 13, 2021 |
| NARS2 | 5 | Dec 30, 2020 |
| NDE1 | 5 | Sep 25, 2019 |
| NDP | 1 | Sep 25, 2019 |
| NDP-AS1 | 1 | Sep 25, 2019 |
| NDRG1 | 18 | Sep 13, 2021 |
| NDUFA1 | 2 | Dec 30, 2020 |
| NEB | 106 | Sep 13, 2021 |
| NEFL | 20 | Sep 13, 2021 |
| NEXMIF | 10 | Sep 25, 2019 |
| NF1 | 63 | Sep 13, 2021 |
| NF2 | 11 | Sep 13, 2021 |
| NHLRC1 | 7 | Dec 30, 2020 |
| NICN1 | 1 | Sep 25, 2019 |
| NIPA1 | 7 | Sep 13, 2021 |
| NIPBL | 20 | Sep 13, 2021 |
| NLRP3 | 11 | Sep 13, 2021 |
| NOC3L | 2 | Aug 17, 2017 |
| NOTCH3 | 374 | Sep 13, 2021 |
| NPHS1 | 40 | Sep 13, 2021 |
| NPHS2 | 26 | Sep 13, 2021 |
| NR0B1 | 8 | Dec 30, 2020 |
| NR2F1 | 2 | Aug 31, 2018 |
| NRXN1 | 19 | Dec 30, 2020 |
| NTRK1 | 18 | Sep 13, 2021 |
| OFD1 | 8 | Sep 13, 2021 |
| OPA1 | 75 | Sep 13, 2021 |
| OPA1-AS1 | 2 | Aug 31, 2018 |
| OPHN1 | 9 | Dec 30, 2020 |
| OPTN | 13 | Dec 30, 2020 |
| OSBPL2 | 5 | Sep 13, 2021 |
| OTOA | 3 | Dec 30, 2020 |
| OTOF | 32 | Dec 30, 2020 |
| OTOG | 39 | Dec 30, 2020 |
| OTOGL | 11 | Dec 30, 2020 |
| OTOP2 | 1 | Sep 25, 2019 |
| OXTR | 14 | Sep 13, 2021 |
| P2RX2 | 4 | Dec 30, 2020 |
| PACRG | 1 | Sep 25, 2019 |
| PAFAH1B1 | 1 | Aug 31, 2018 |
| PAK3 | 3 | Sep 25, 2019 |
| PANK2 | 9 | Dec 30, 2020 |
| PARK7 | 7 | Sep 13, 2021 |
| PAX3 | 3 | Dec 30, 2020 |
| PCDH15 | 23 | Dec 30, 2020 |
| PCDH19 | 21 | Sep 13, 2021 |
| PDCD10 | 1 | Aug 17, 2017 |
| PDHA1 | 2 | Sep 13, 2021 |
| PDX1 | 31 | Sep 13, 2021 |
| PDYN | 23 | Sep 13, 2021 |
| PDYN-AS1 | 23 | Sep 13, 2021 |
| PDZD7 | 13 | Dec 30, 2020 |
| PEX1 | 8 | Dec 30, 2020 |
| PEX6 | 9 | Dec 30, 2020 |
| PEX7 | 4 | Sep 25, 2019 |
| PFN1 | 1 | Sep 25, 2019 |
| PHEX | 26 | Dec 30, 2020 |
| PHEX-AS1 | 1 | Aug 31, 2018 |
| PHGDH | 7 | Dec 30, 2020 |
| PI4KA | 1 | Aug 31, 2018 |
| PIGA | 3 | Sep 25, 2019 |
| PIGN | 16 | Sep 25, 2019 |
| PIGO | 14 | Dec 30, 2020 |
| PIGV | 2 | Sep 13, 2021 |
| PINK1 | 17 | Sep 13, 2021 |
| PINK1-AS | 10 | Dec 30, 2020 |
| PJVK | 1 | Sep 25, 2019 |
| PKD1 | 477 | Sep 13, 2021 |
| PKD1-AS1 | 48 | Sep 13, 2021 |
| PKD2 | 54 | Sep 13, 2021 |
| PKD2L2-DT | 15 | Sep 13, 2021 |
| PLA2G6 | 11 | Sep 13, 2021 |
| PLCB1 | 17 | Sep 25, 2019 |
| PLCE1 | 23 | Dec 30, 2020 |
| PLCE1-AS1 | 1 | Sep 25, 2019 |
| PLD3 | 1 | Jul 17, 2017 |
| PLEC | 336 | Sep 13, 2021 |
| PLP1 | 5 | Dec 30, 2020 |
| PLUT | 9 | Sep 13, 2021 |
| PMP22 | 27 | Sep 13, 2021 |
| PNKD | 5 | Aug 31, 2018 |
| PNKP | 13 | Sep 25, 2019 |
| PNPLA6 | 34 | Sep 13, 2021 |
| PNPO | 7 | Dec 30, 2020 |
| PNPT1 | 3 | Dec 30, 2020 |
| POLG | 149 | Sep 13, 2021 |
| POLR1C | 3 | Dec 30, 2020 |
| POLR1D | 5 | Sep 25, 2019 |
| POLR2F | 3 | Sep 25, 2019 |
| POMGNT1 | 23 | Sep 13, 2021 |
| POMGNT2 | 4 | Dec 30, 2020 |
| POMT1 | 53 | Sep 13, 2021 |
| POMT2 | 31 | Sep 13, 2021 |
| POU1F1 | 1 | Aug 31, 2018 |
| POU4F3 | 3 | Sep 25, 2019 |
| PPT1 | 4 | Dec 30, 2020 |
| PQBP1 | 2 | Aug 31, 2018 |
| PRICKLE1 | 17 | Dec 30, 2020 |
| PRICKLE2 | 16 | Dec 30, 2020 |
| PRIMA1 | 5 | Sep 25, 2019 |
| PRKCG | 63 | Sep 13, 2021 |
| PRKN | 17 | Sep 13, 2021 |
| PROK2 | 1 | Aug 17, 2017 |
| PROKR2 | 5 | Dec 30, 2020 |
| PROP1 | 5 | Aug 31, 2018 |
| PRPS1 | 1 | Dec 30, 2020 |
| PRRT2 | 13 | Sep 13, 2021 |
| PRX | 63 | Sep 13, 2021 |
| PSEN1 | 39 | Sep 13, 2021 |
| PSEN2 | 25 | Sep 13, 2021 |
| PTCHD1-AS | 6 | Sep 25, 2019 |
| PTEN | 1 | Aug 31, 2018 |
| PTPN11 | 4 | Dec 30, 2020 |
| PTPRQ | 19 | Dec 30, 2020 |
| PURA | 1 | Sep 25, 2019 |
| QARS1 | 8 | Sep 13, 2021 |
| RAB33A | 2 | Sep 25, 2019 |
| RAB39B | 1 | Dec 30, 2020 |
| RAB3GAP1 | 14 | Sep 13, 2021 |
| RAB7A | 6 | Dec 30, 2020 |
| RAB9B | 5 | Dec 30, 2020 |
| RAI1 | 27 | Sep 13, 2021 |
| RAPSN | 8 | Sep 13, 2021 |
| RBFOX1 | 10 | Sep 13, 2021 |
| RDX | 3 | Dec 30, 2020 |
| REEP1 | 11 | Sep 13, 2021 |
| RELN | 64 | Sep 13, 2021 |
| RET | 21 | Sep 13, 2021 |
| RIF1 | 21 | Sep 13, 2021 |
| RIPOR2 | 21 | Sep 13, 2021 |
| RNASE4 | 6 | Sep 13, 2021 |
| RNASEH2A | 5 | Sep 25, 2019 |
| RNASEH2B | 7 | Sep 25, 2019 |
| RNASEH2C | 2 | Sep 13, 2021 |
| RNF17 | 3 | Sep 13, 2021 |
| RNR1 | 1 | Sep 25, 2019 |
| ROGDI | 12 | Sep 25, 2019 |
| ROR1 | 3 | Sep 25, 2019 |
| RRM2B | 2 | Sep 25, 2019 |
| RS1 | 3 | Dec 30, 2020 |
| RTN2 | 23 | Sep 13, 2021 |
| RXYLT1 | 5 | Sep 13, 2021 |
| RXYLT1-AS1 | 1 | Aug 31, 2018 |
| RYR1 | 61 | Sep 13, 2021 |
| S1PR2 | 3 | Dec 30, 2020 |
| SACS | 295 | Sep 13, 2021 |
| SALL1 | 8 | Dec 30, 2020 |
| SAMHD1 | 2 | Aug 31, 2018 |
| SBF2 | 55 | Sep 13, 2021 |
| SBF2-AS1 | 14 | Sep 13, 2021 |
| SCARB2 | 9 | Dec 30, 2020 |
| SCN1A | 85 | Sep 13, 2021 |
| SCN1A-AS1 | 32 | Dec 30, 2020 |
| SCN1B | 9 | Sep 13, 2021 |
| SCN2A | 37 | Sep 13, 2021 |
| SCN3A | 19 | Dec 30, 2020 |
| SCN4A | 185 | Sep 13, 2021 |
| SCN5A | 46 | Sep 13, 2021 |
| SCN8A | 18 | Dec 30, 2020 |
| SCN9A | 39 | Dec 30, 2020 |
| SCNN1B | 25 | Sep 13, 2021 |
| SCNN1G | 14 | Sep 13, 2021 |
| SCO2 | 3 | Sep 25, 2019 |
| SDHB | 4 | Aug 31, 2018 |
| SELENON | 15 | Dec 30, 2020 |
| SEMA3E | 5 | Sep 13, 2021 |
| SEPTIN9 | 9 | Dec 30, 2020 |
| SERPINB6 | 4 | Dec 30, 2020 |
| SERPINI1 | 4 | Sep 25, 2019 |
| SETBP1 | 13 | Sep 13, 2021 |
| SETD2 | 18 | Dec 30, 2020 |
| SETX | 224 | Sep 13, 2021 |
| SGCA | 19 | Sep 13, 2021 |
| SGCB | 12 | Dec 30, 2020 |
| SGCD | 12 | Sep 13, 2021 |
| SGCE | 29 | Sep 13, 2021 |
| SGCG | 19 | Sep 13, 2021 |
| SH3TC2 | 58 | Sep 13, 2021 |
| SHANK2 | 1 | Aug 31, 2018 |
| SHANK3 | 1 | Aug 31, 2018 |
| SHH | 5 | Sep 25, 2019 |
| SHLD2 | 1 | Aug 31, 2018 |
| SHOX | 54 | Sep 13, 2021 |
| SIGMAR1 | 6 | Sep 13, 2021 |
| SIK1 | 17 | Dec 30, 2020 |
| SIL1 | 45 | Sep 13, 2021 |
| SIX1 | 1 | Sep 25, 2019 |
| SIX3 | 8 | Sep 25, 2019 |
| SIX5 | 4 | Dec 30, 2020 |
| SLC12A1 | 23 | Sep 13, 2021 |
| SLC12A3 | 61 | Sep 13, 2021 |
| SLC13A5 | 4 | Sep 25, 2019 |
| SLC17A8 | 3 | Dec 30, 2020 |
| SLC19A1 | 12 | Aug 31, 2018 |
| SLC19A2 | 2 | Sep 25, 2019 |
| SLC19A3 | 13 | Dec 30, 2020 |
| SLC1A3 | 45 | Sep 13, 2021 |
| SLC22A4 | 3 | Dec 30, 2020 |
| SLC25A19 | 5 | Sep 25, 2019 |
| SLC25A22 | 8 | Dec 30, 2020 |
| SLC25A4 | 2 | Dec 30, 2020 |
| SLC26A4 | 10 | Dec 30, 2020 |
| SLC26A4-AS1 | 1 | Sep 25, 2019 |
| SLC26A5 | 3 | Dec 30, 2020 |
| SLC26A5-AS1 | 8 | Sep 13, 2021 |
| SLC2A1 | 17 | Sep 13, 2021 |
| SLC33A1 | 10 | Sep 13, 2021 |
| SLC35A2 | 5 | Dec 30, 2020 |
| SLC4A10 | 9 | Sep 13, 2021 |
| SLC4A11 | 11 | Dec 30, 2020 |
| SLC6A1 | 16 | Sep 13, 2021 |
| SLC6A1-AS1 | 3 | Sep 25, 2019 |
| SLC6A8 | 15 | Sep 25, 2019 |
| SLC9A6 | 9 | Dec 30, 2020 |
| SLITRK6 | 6 | Sep 25, 2019 |
| SMC1A | 6 | Dec 30, 2020 |
| SMC3 | 10 | Sep 13, 2021 |
| SMCHD1 | 25 | Sep 13, 2021 |
| SMN1 | 22 | Sep 13, 2021 |
| SMS | 2 | Dec 30, 2020 |
| SNAI2 | 1 | Sep 25, 2019 |
| SNAP25 | 3 | Aug 31, 2018 |
| SNAP29 | 6 | Aug 31, 2018 |
| SNHG14 | 9 | Sep 13, 2021 |
| SOD1 | 25 | Sep 13, 2021 |
| SOS1 | 2 | Aug 17, 2017 |
| SOX10 | 3 | Sep 25, 2019 |
| SPART | 11 | Sep 13, 2021 |
| SPAST | 93 | Sep 13, 2021 |
| SPATA5 | 19 | Dec 30, 2020 |
| SPG11 | 68 | Sep 13, 2021 |
| SPG21 | 5 | Sep 13, 2021 |
| SPG7 | 47 | Sep 13, 2021 |
| SPTAN1 | 34 | Dec 30, 2020 |
| SPTBN2 | 218 | Sep 13, 2021 |
| SPTLC1 | 3 | Sep 25, 2019 |
| SPTLC2 | 2 | Sep 25, 2019 |
| SQSTM1 | 27 | Sep 13, 2021 |
| SRPX2 | 5 | Sep 25, 2019 |
| SSUH2 | 6 | Sep 13, 2021 |
| ST3GAL3 | 5 | Sep 25, 2019 |
| ST3GAL5 | 7 | Sep 13, 2021 |
| STAR | 6 | Sep 25, 2019 |
| STIL | 13 | Dec 30, 2020 |
| STON1-GTF2A1L | 8 | Sep 13, 2021 |
| STRC | 11 | Dec 30, 2020 |
| STX1B | 6 | Sep 25, 2019 |
| STXBP1 | 12 | Sep 13, 2021 |
| SUCLA2 | 10 | Dec 30, 2020 |
| SYN1 | 10 | Dec 30, 2020 |
| SYNE1 | 709 | Sep 13, 2021 |
| SYNE1-AS1 | 9 | Dec 30, 2020 |
| SYNE2 | 145 | Sep 13, 2021 |
| SYNE4 | 3 | Dec 30, 2020 |
| SYNGAP1 | 8 | Sep 13, 2021 |
| SYNGAP1-AS1 | 7 | Sep 13, 2021 |
| SYNJ1 | 23 | Sep 13, 2021 |
| SYP | 1 | Aug 31, 2018 |
| SYT14 | 30 | Sep 13, 2021 |
| SZT2 | 44 | Sep 13, 2021 |
| TACR3 | 3 | Sep 13, 2021 |
| TAPBPL | 6 | Sep 13, 2021 |
| TARDBP | 14 | Sep 13, 2021 |
| TARID | 1 | Sep 25, 2019 |
| TBC1D24 | 18 | Dec 30, 2020 |
| TBCEL-TECTA | 13 | Sep 13, 2021 |
| TBL1XR1 | 8 | Dec 30, 2020 |
| TBL1XR1-AS1 | 2 | Aug 31, 2018 |
| TBX1 | 16 | Sep 13, 2021 |
| TCAP | 9 | Sep 13, 2021 |
| TCF4 | 11 | Sep 13, 2021 |
| TCOF1 | 15 | Sep 13, 2021 |
| TDP1 | 55 | Sep 13, 2021 |
| TECTA | 13 | Sep 13, 2021 |
| TFAP2A | 2 | Sep 25, 2019 |
| TGM6 | 120 | Sep 13, 2021 |
| TH | 21 | Dec 30, 2020 |
| THAP1 | 7 | Dec 30, 2020 |
| TIA1 | 3 | Aug 17, 2017 |
| TJP2 | 12 | Sep 13, 2021 |
| TK2 | 2 | Dec 30, 2020 |
| TMC1 | 10 | Dec 30, 2020 |
| TMEM132E | 8 | Sep 13, 2021 |
| TMEM216 | 1 | Aug 17, 2017 |
| TMEM43 | 8 | Sep 13, 2021 |
| TMEM67 | 2 | Aug 17, 2017 |
| TMPRSS3 | 4 | Dec 30, 2020 |
| TNC | 21 | Sep 13, 2021 |
| TNNT1 | 1 | Sep 25, 2019 |
| TNXB | 5 | Sep 13, 2021 |
| TOMT | 2 | Sep 25, 2019 |
| TPM2 | 2 | Dec 30, 2020 |
| TPM3 | 2 | Sep 25, 2019 |
| TPP1 | 22 | Dec 30, 2020 |
| TPRN | 3 | Sep 25, 2019 |
| TRAPPC11 | 31 | Sep 13, 2021 |
| TRAPPC2L | 1 | Aug 31, 2018 |
| TREX1 | 10 | Sep 25, 2019 |
| TRIM32 | 10 | Sep 13, 2021 |
| TRIOBP | 11 | Dec 30, 2020 |
| TRPC6 | 18 | Dec 30, 2020 |
| TRPV4 | 58 | Sep 13, 2021 |
| TSC1 | 66 | Sep 13, 2021 |
| TSC2 | 200 | Sep 13, 2021 |
| TSEN54 | 20 | Dec 30, 2020 |
| TSPAN1 | 22 | Sep 13, 2021 |
| TSPEAR | 8 | Sep 25, 2019 |
| TSPEAR-AS1 | 1 | Sep 25, 2019 |
| TSR2 | 3 | Sep 25, 2019 |
| TTBK2 | 75 | Sep 13, 2021 |
| TTN | 1096 | Sep 13, 2021 |
| TTN-AS1 | 604 | Sep 13, 2021 |
| TTPA | 21 | Sep 13, 2021 |
| TTR | 27 | Sep 13, 2021 |
| TUBA1A | 9 | Sep 13, 2021 |
| TUBA8 | 7 | Sep 25, 2019 |
| TUBB2B | 5 | Sep 25, 2019 |
| TUBB6 | 4 | Sep 13, 2021 |
| TWNK | 10 | Sep 13, 2021 |
| TYMP | 5 | Sep 25, 2019 |
| UBA1 | 3 | Sep 25, 2019 |
| UBE3A | 9 | Sep 13, 2021 |
| UBQLN2 | 9 | Dec 30, 2020 |
| UMOD | 10 | Sep 13, 2021 |
| USH1C | 5 | Sep 25, 2019 |
| USH1G | 4 | Sep 25, 2019 |
| USH2A | 47 | Sep 13, 2021 |
| USH2A-AS1 | 3 | Sep 25, 2019 |
| USH2A-AS2 | 2 | Sep 13, 2021 |
| VAMP1 | 6 | Sep 13, 2021 |
| VAPB | 7 | Dec 30, 2020 |
| VCP | 18 | Sep 13, 2021 |
| VHL | 5 | Dec 30, 2020 |
| VPS13A | 52 | Sep 13, 2021 |
| VPS13B | 54 | Sep 13, 2021 |
| VRK1 | 1 | Aug 31, 2018 |
| WASHC5 | 22 | Sep 13, 2021 |
| WDR45 | 4 | Sep 25, 2019 |
| WDR62 | 34 | Sep 25, 2019 |
| WFS1 | 17 | Dec 30, 2020 |
| WHRN | 11 | Sep 13, 2021 |
| WNK1 | 22 | Sep 13, 2021 |
| WT1 | 13 | Sep 13, 2021 |
| WWOX | 24 | Sep 25, 2019 |
| YARS1 | 12 | Sep 13, 2021 |
| ZDHHC24 | 5 | Sep 25, 2019 |
| ZEB2 | 10 | Dec 30, 2020 |
| ZFYVE26 | 67 | Sep 13, 2021 |
| ZRANB3 | 2 | Aug 31, 2018 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 3 beta-Hydroxysteroid dehydrogenase deficiency | 1 test |
| ABCD syndrome | 1 test |
| ALG9 congenital disorder of glycosylation | 4 tests |
| Aarskog syndrome | 2 tests |
| Abortive cerebellar ataxia | 1 test |
| Achondroplasia | 3 tests |
| Acrocephalosyndactyly type I | 1 test |
| Actin accumulation myopathy | 1 test |
| Action myoclonus-renal failure syndrome | 2 tests |
| Adenylosuccinate lyase deficiency | 5 tests |
| Adrenoleukodystrophy | 3 tests |
| Adult-onset proximal spinal muscular atrophy, autosomal dominant | 1 test |
| Aicardi-Goutieres syndrome 1 | 2 tests |
| Aicardi-Goutieres syndrome 2 | 2 tests |
| Aicardi-Goutieres syndrome 3 | 2 tests |
| Aicardi-Goutieres syndrome 4 | 2 tests |
| Aicardi-Goutieres syndrome 5 | 2 tests |
| Alexander disease | 4 tests |
| Alstrom syndrome | 1 test |
| Alternating hemiplegia of childhood 2 | 2 tests |
| Alzheimer disease | 2 tests |
| Alzheimer disease 2 | 1 test |
| Alzheimer disease 3 | 2 tests |
| Alzheimer disease 4 | 2 tests |
| Amelocerebrohypohidrotic syndrome | 2 tests |
| Aminoglycoside-induced deafness | 1 test |
| Amyloidogenic transthyretin amyloidosis | 2 tests |
| Amyotrophic lateral sclerosis type 1 | 3 tests |
| Amyotrophic lateral sclerosis type 10 | 2 tests |
| Amyotrophic lateral sclerosis type 12 | 2 tests |
| Amyotrophic lateral sclerosis type 15 | 2 tests |
| Amyotrophic lateral sclerosis type 16 | 2 tests |
| Amyotrophic lateral sclerosis type 18 | 2 tests |
| Amyotrophic lateral sclerosis type 2, juvenile | 6 tests |
| Amyotrophic lateral sclerosis type 21 | 1 test |
| Amyotrophic lateral sclerosis type 4 | 5 tests |
| Amyotrophic lateral sclerosis type 6 | 2 tests |
| Amyotrophic lateral sclerosis type 8 | 2 tests |
| Amyotrophic lateral sclerosis type 9 | 2 tests |
| Amyotrophic neuralgia | 1 test |
| Andersen Tawil syndrome | 1 test |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 1 test |
| Angelman syndrome | 2 tests |
| Aniridia 1 | 2 tests |
| Apparent mineralocorticoid excess | 3 tests |
| Arginine:glycine amidinotransferase deficiency | 3 tests |
| Arts syndrome | 1 test |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 4 tests |
| Ataxia-hypogonadism-choroidal dystrophy syndrome | 3 tests |
| Ataxia-telangiectasia syndrome | 4 tests |
| Ataxia-telangiectasia-like disorder 1 | 3 tests |
| Ateleiotic dwarfism | 2 tests |
| Atrophia bulborum hereditaria | 1 test |
| Autism, susceptibility to, 17 | 1 test |
| Autosomal dominant Alport syndrome | 3 tests |
| Autosomal dominant Parkinson disease 1 | 3 tests |
| Autosomal dominant Parkinson disease 4 | 3 tests |
| Autosomal dominant Parkinson disease 8 | 3 tests |
| Autosomal dominant auditory neuropathy 1 | 1 test |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 1 test |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 test |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 test |
| Autosomal dominant deafness - onychodystrophy syndrome | 1 test |
| Autosomal dominant hypocalcemia 1 | 1 test |
| Autosomal dominant hypophosphatemic rickets | 2 tests |
| Autosomal dominant isolated somatotropin deficiency | 2 tests |
| Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | 1 test |
| Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 2 tests |
| Autosomal dominant medullary cystic kidney disease with hyperuricemia | 1 test |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 2 tests |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 2 tests |
| Autosomal dominant nocturnal frontal lobe epilepsy 4 | 2 tests |
| Autosomal dominant nonsyndromic hearing loss 1 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 10 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 11 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 12 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 13 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 15 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 17 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 20 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 22 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 23 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 25 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 28 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 2A | 1 test |
| Autosomal dominant nonsyndromic hearing loss 2B | 1 test |
| Autosomal dominant nonsyndromic hearing loss 36 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 3A | 3 tests |
| Autosomal dominant nonsyndromic hearing loss 3B | 3 tests |
| Autosomal dominant nonsyndromic hearing loss 40 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 41 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 44 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 4A | 1 test |
| Autosomal dominant nonsyndromic hearing loss 4B | 1 test |
| Autosomal dominant nonsyndromic hearing loss 5 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 50 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 56 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 6 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 64 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 65 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 66 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 67 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 68 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 70 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 9 | 1 test |
| Autosomal dominant optic atrophy classic form | 4 tests |
| Autosomal recessive Alport syndrome | 4 tests |
| Autosomal recessive DOPA responsive dystonia | 2 tests |
| Autosomal recessive ataxia due to ubiquinone deficiency | 3 tests |
| Autosomal recessive ataxia, Beauce type | 3 tests |
| Autosomal recessive distal spinal muscular atrophy 1 | 1 test |
| Autosomal recessive distal spinal muscular atrophy 2 | 2 tests |
| Autosomal recessive early-onset Parkinson disease 6 | 3 tests |
| Autosomal recessive early-onset Parkinson disease 7 | 3 tests |
| Autosomal recessive juvenile Parkinson disease 2 | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 4 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 4 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2F | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 4 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 5 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2K | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2M | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2P | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2R | 4 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2S | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2U | 2 tests |
| Autosomal recessive nonsyndromic hearing loss 101 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 102 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 103 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 104 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 12 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 15 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 16 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 18A | 1 test |
| Autosomal recessive nonsyndromic hearing loss 18B | 1 test |
| Autosomal recessive nonsyndromic hearing loss 1A | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 1B | 3 tests |
| Autosomal recessive nonsyndromic hearing loss 2 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 21 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 22 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 23 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 24 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 25 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 28 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 29 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 3 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 30 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 31 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 32 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 35 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 36 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 37 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 39 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 4 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 42 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 44 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 48 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 49 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 53 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 59 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 6 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 61 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 63 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 66 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 67 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 68 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 7 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 70 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 74 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 76 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 77 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 79 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 8 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 84A | 1 test |
| Autosomal recessive nonsyndromic hearing loss 84B | 1 test |
| Autosomal recessive nonsyndromic hearing loss 86 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 88 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 89 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 9 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 91 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 93 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 97 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 98 | 1 test |
| Autosomal recessive pseudohypoaldosteronism type 1 | 6 tests |
| Autosomal recessive spinocerebellar ataxia 10 | 3 tests |
| Autosomal recessive spinocerebellar ataxia 11 | 3 tests |
| Autosomal recessive spinocerebellar ataxia 13 | 3 tests |
| Autosomal recessive spinocerebellar ataxia 14 | 2 tests |
| Azorean disease | 4 tests |
| Baraitser-Winter syndrome 1 | 1 test |
| Baraitser-winter syndrome 2 | 1 test |
| Bardet-Biedl syndrome | 4 tests |
| Bartter disease type 1 | 3 tests |
| Bartter disease type 2 | 2 tests |
| Bartter disease type 3 | 2 tests |
| Bartter disease type 4B | 2 tests |
| Bartter disease type 4a | 3 tests |
| Becker muscular dystrophy | 4 tests |
| Benign scapuloperoneal muscular dystrophy with cardiomyopathy | 1 test |
| Beta-D-mannosidosis | 1 test |
| Bethlem myopathy 1 | 1 test |
| Bifunctional peroxisomal enzyme deficiency | 1 test |
| Bilateral frontoparietal polymicrogyria | 2 tests |
| Biotin-responsive basal ganglia disease | 3 tests |
| Borjeson-Forssman-Lehmann syndrome | 2 tests |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 2 tests |
| Brain small vessel disease 1 with or without ocular anomalies | 2 tests |
| Brain small vessel disease with hemorrhage | 1 test |
| Branched-chain keto acid dehydrogenase kinase deficiency | 3 tests |
| Branchiooculofacial syndrome | 1 test |
| Branchiootic syndrome 1 | 1 test |
| Branchiootic syndrome 3 | 1 test |
| Branchiootorenal syndrome 1 | 1 test |
| Branchiootorenal syndrome 2 | 1 test |
| Brody myopathy | 1 test |
| Brugada syndrome 1 | 2 tests |
| Brugada syndrome 9 | 2 tests |
| CARASIL syndrome | 1 test |
| CHARGE association | 1 test |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 1 test |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 2 tests |
| Cataract 16 multiple types | 1 test |
| Central core myopathy | 1 test |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 4 tests |
| Cerebral cavernous malformation | 2 tests |
| Cerebral cavernous malformation 2 | 2 tests |
| Cerebral cavernous malformation 3 | 2 tests |
| Cerebral folate transport deficiency | 4 tests |
| Cerebrooculofacioskeletal syndrome 2 | 1 test |
| Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | 2 tests |
| Ceroid lipofuscinosis, neuronal, 6A | 2 tests |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 8 tests |
| Charcot-Marie-Tooth disease X-linked recessive 4 | 1 test |
| Charcot-Marie-Tooth disease X-linked recessive 5 | 1 test |
| Charcot-Marie-Tooth disease axonal type 2C | 8 tests |
| Charcot-Marie-Tooth disease axonal type 2F | 8 tests |
| Charcot-Marie-Tooth disease axonal type 2K | 9 tests |
| Charcot-Marie-Tooth disease axonal type 2L | 8 tests |
| Charcot-Marie-Tooth disease dominant intermediate B | 13 tests |
| Charcot-Marie-Tooth disease dominant intermediate C | 10 tests |
| Charcot-Marie-Tooth disease dominant intermediate D | 9 tests |
| Charcot-Marie-Tooth disease recessive intermediate A | 5 tests |
| Charcot-Marie-Tooth disease type 1B | 9 tests |
| Charcot-Marie-Tooth disease type 1C | 7 tests |
| Charcot-Marie-Tooth disease type 1D | 8 tests |
| Charcot-Marie-Tooth disease type 1E | 12 tests |
| Charcot-Marie-Tooth disease type 1F | 7 tests |
| Charcot-Marie-Tooth disease type 2A2 | 6 tests |
| Charcot-Marie-Tooth disease type 2B | 7 tests |
| Charcot-Marie-Tooth disease type 2B1 | 12 tests |
| Charcot-Marie-Tooth disease type 2D | 8 tests |
| Charcot-Marie-Tooth disease type 2E | 7 tests |
| Charcot-Marie-Tooth disease type 2I | 9 tests |
| Charcot-Marie-Tooth disease type 2J | 9 tests |
| Charcot-Marie-Tooth disease type 2Y | 1 test |
| Charcot-Marie-Tooth disease type 4A | 9 tests |
| Charcot-Marie-Tooth disease type 4B1 | 7 tests |
| Charcot-Marie-Tooth disease type 4B2 | 7 tests |
| Charcot-Marie-Tooth disease type 4C | 7 tests |
| Charcot-Marie-Tooth disease type 4D | 7 tests |
| Charcot-Marie-Tooth disease type 4E | 4 tests |
| Charcot-Marie-Tooth disease type 4F | 7 tests |
| Charcot-Marie-Tooth disease type 4H | 7 tests |
| Charcot-Marie-Tooth disease type 4J | 9 tests |
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 5 tests |
| Charcot-Marie-Tooth disease, type IA | 11 tests |
| Charlevoix-Saguenay spastic ataxia | 7 tests |
| Cholestanol storage disease | 2 tests |
| Chorea-acanthocytosis | 2 tests |
| Christianson syndrome | 3 tests |
| Chronic infantile neurological, cutaneous and articular syndrome | 1 test |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 4 tests |
| Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss | 2 tests |
| Cohen syndrome | 3 tests |
| Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | 1 test |
| Complex cortical dysplasia with other brain malformations 7 | 2 tests |
| Compton-North congenital myopathy | 1 test |
| Congenital adrenal hypoplasia, X-linked | 2 tests |
| Congenital bile acid synthesis defect 3 | 3 tests |
| Congenital cataract-hearing loss-severe developmental delay syndrome | 3 tests |
| Congenital generalized lipodystrophy type 2 | 3 tests |
| Congenital generalized lipodystrophy type 4 | 1 test |
| Congenital lipoid adrenal hyperplasia due to STAR deficency | 1 test |
| Congenital multicore myopathy with external ophthalmoplegia | 1 test |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 1 test |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | 1 test |
| Congenital muscular hypertrophy-cerebral syndrome | 2 tests |
| Congenital myasthenic syndrome 10 | 1 test |
| Congenital myasthenic syndrome 11 | 1 test |
| Congenital myasthenic syndrome 12 | 1 test |
| Congenital myasthenic syndrome 13 | 1 test |
| Congenital myasthenic syndrome 18 | 2 tests |
| Congenital myasthenic syndrome 2A | 1 test |
| Congenital myasthenic syndrome 3B | 1 test |
| Congenital myasthenic syndrome 4A | 1 test |
| Congenital myasthenic syndrome 4B | 1 test |
| Congenital myasthenic syndrome 4C | 1 test |
| Congenital myasthenic syndrome 5 | 1 test |
| Congenital myasthenic syndrome 8 | 1 test |
| Congenital myasthenic syndrome 9 | 1 test |
| Congenital myopathy with fiber type disproportion | 3 tests |
| Congenital myopathy with internal nuclei and atypical cores | 2 tests |
| Congenital myotonia, autosomal dominant form | 3 tests |
| Congenital myotonia, autosomal recessive form | 3 tests |
| Corneal dystrophy-perceptive deafness syndrome | 1 test |
| Cornelia de Lange syndrome 1 | 2 tests |
| Cornelia de Lange syndrome 3 | 2 tests |
| Cortical dysplasia-focal epilepsy syndrome | 2 tests |
| Craniofacial-deafness-hand syndrome | 1 test |
| Craniometaphyseal dysplasia, autosomal dominant | 1 test |
| Creatine transporter deficiency | 3 tests |
| Crouzon syndrome | 1 test |
| Cutis laxa with osteodystrophy | 2 tests |
| DOORS syndrome | 1 test |
| DYRK1A-related intellectual disability syndrome | 2 tests |
| Deafness dystonia syndrome | 1 test |
| Deafness with labyrinthine aplasia, microtia, and microdontia | 1 test |
| Deafness, X-linked 5 | 1 test |
| Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | 1 test |
| Deafness, autosomal dominant, with peripheral neuropathy | 1 test |
| Deficiency of guanidinoacetate methyltransferase | 3 tests |
| Deficiency of steroid 11-beta-monooxygenase | 4 tests |
| Deficiency of steroid 17-alpha-monooxygenase | 1 test |
| Dentatorubral-pallidoluysian atrophy | 4 tests |
| Developmental and epileptic encephalopathy 94 | 3 tests |
| Developmental and epileptic encephalopathy, 1 | 6 tests |
| Developmental and epileptic encephalopathy, 11 | 4 tests |
| Developmental and epileptic encephalopathy, 12 | 2 tests |
| Developmental and epileptic encephalopathy, 13 | 2 tests |
| Developmental and epileptic encephalopathy, 14 | 3 tests |
| Developmental and epileptic encephalopathy, 15 | 2 tests |
| Developmental and epileptic encephalopathy, 17 | 2 tests |
| Developmental and epileptic encephalopathy, 18 | 2 tests |
| Developmental and epileptic encephalopathy, 2 | 6 tests |
| Developmental and epileptic encephalopathy, 23 | 2 tests |
| Developmental and epileptic encephalopathy, 24 | 3 tests |
| Developmental and epileptic encephalopathy, 25 | 2 tests |
| Developmental and epileptic encephalopathy, 26 | 2 tests |
| Developmental and epileptic encephalopathy, 27 | 4 tests |
| Developmental and epileptic encephalopathy, 28 | 2 tests |
| Developmental and epileptic encephalopathy, 30 | 2 tests |
| Developmental and epileptic encephalopathy, 31 | 2 tests |
| Developmental and epileptic encephalopathy, 32 | 2 tests |
| Developmental and epileptic encephalopathy, 33 | 3 tests |
| Developmental and epileptic encephalopathy, 36 | 4 tests |
| Developmental and epileptic encephalopathy, 4 | 3 tests |
| Developmental and epileptic encephalopathy, 5 | 3 tests |
| Developmental and epileptic encephalopathy, 53 | 2 tests |
| Developmental and epileptic encephalopathy, 54 | 3 tests |
| Developmental and epileptic encephalopathy, 7 | 2 tests |
| Developmental and epileptic encephalopathy, 8 | 3 tests |
| Developmental and epileptic encephalopathy, 9 | 4 tests |
| Developmental malformations-deafness-dystonia syndrome | 1 test |
| DiGeorge syndrome | 3 tests |
| Diabetes insipidus, nephrogenic, X-linked | 2 tests |
| Diabetes insipidus, nephrogenic, autosomal | 2 tests |
| Diabetes mellitus, transient neonatal, 2 | 2 tests |
| Diabetes mellitus, transient neonatal, 3 | 2 tests |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 3 tests |
| Dihydropyrimidine dehydrogenase deficiency | 3 tests |
| Dilated cardiomyopathy 1C | 1 test |
| Dilated cardiomyopathy 1II | 1 test |
| Dilated cardiomyopathy 1J | 1 test |
| Dilated cardiomyopathy 1S | 1 test |
| Distal myopathy with posterior leg and anterior hand involvement | 2 tests |
| Duchenne muscular dystrophy | 4 tests |
| Dystonia 5 | 3 tests |
| Dystonia 9 | 2 tests |
| EAST syndrome | 3 tests |
| Early myoclonic encephalopathy | 3 tests |
| Early-onset generalized limb-onset dystonia | 2 tests |
| Early-onset myopathy with fatal cardiomyopathy | 4 tests |
| Eichsfeld type congenital muscular dystrophy | 3 tests |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 4 tests |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 2 tests |
| Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 2 tests |
| Encephalopathy due to GLUT1 deficiency | 3 tests |
| Epilepsy | 3 tests |
| Epilepsy, childhood absence, susceptibility to, 5 | 3 tests |
| Epilepsy, childhood absence, susceptibility to, 6 | 2 tests |
| Epilepsy, familial focal, with variable foci 1 | 2 tests |
| Epilepsy, familial temporal lobe, 1 | 3 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 10 | 2 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 13 | 2 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 7 | 3 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 8 | 2 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 9 | 5 tests |
| Epilepsy, juvenile absence, susceptibility to, 1 | 2 tests |
| Epilepsy, progressive myoclonic, 1B | 2 tests |
| Epileptic encephalopathy | 5 tests |
| Episodic ataxia type 1 | 6 tests |
| Episodic ataxia type 5 | 4 tests |
| Episodic ataxia type 6 | 4 tests |
| FG syndrome 4 | 1 test |
| Facial paresis, hereditary congenital, 3 | 1 test |
| Facioscapulohumeral muscular dystrophy | 1 test |
| Facioscapulohumeral muscular dystrophy 2 | 1 test |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 2 tests |
| Familial amyloid nephropathy with urticaria AND deafness | 1 test |
| Familial encephalopathy with neuroserpin inclusion bodies | 2 tests |
| Familial febrile seizures 8 | 3 tests |
| Familial hypocalciuric hypercalcemia 1 | 1 test |
| Familial hypokalemia-hypomagnesemia | 2 tests |
| Familial infantile myasthenia | 1 test |
| Familial infantile myoclonic epilepsy | 2 tests |
| Familial isolated deficiency of vitamin E | 4 tests |
| Familial juvenile hyperuricemic nephropathy type 1 | 1 test |
| Familial medullary thyroid carcinoma | 2 tests |
| Familial temporal lobe epilepsy 5 | 2 tests |
| Fatal infantile hypertonic myofibrillar myopathy | 2 tests |
| Febrile seizures, familial, 11 | 2 tests |
| Febrile seizures, familial, 4 | 2 tests |
| Finnish congenital nephrotic syndrome | 2 tests |
| Focal epilepsy | 2 tests |
| Focal segmental glomerulosclerosis 1 | 2 tests |
| Focal segmental glomerulosclerosis 2 | 2 tests |
| Focal segmental glomerulosclerosis 5 | 2 tests |
| Friedreich ataxia 1 | 5 tests |
| Frontotemporal dementia | 2 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | 4 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 2 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 2 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | 2 tests |
| GM3 synthase deficiency | 3 tests |
| GNE myopathy | 1 test |
| Gamma-aminobutyric acid transaminase deficiency | 3 tests |
| Generalized epilepsy with febrile seizures plus, type 1 | 3 tests |
| Generalized epilepsy with febrile seizures plus, type 2 | 5 tests |
| Generalized epilepsy with febrile seizures plus, type 7 | 2 tests |
| Generalized epilepsy with febrile seizures plus, type 9 | 2 tests |
| Gillespie syndrome | 3 tests |
| Glaucoma, normal tension, susceptibility to | 1 test |
| Glucocorticoid-remediable aldosteronism | 1 test |
| Goldberg-Shprintzen megacolon syndrome | 2 tests |
| Gonadotropin-independent familial sexual precocity | 1 test |
| Grn-related frontotemporal lobar degeneration with Tdp43 inclusions | 2 tests |
| HSD10 mitochondrial disease | 2 tests |
| Hearing impairment | 1 test |
| Hearing loss, X-linked 1 | 1 test |
| Hearing loss, X-linked 4 | 1 test |
| Hearing loss, X-linked 6 | 1 test |
| Hearing loss, autosomal dominant 34, with or without inflammation | 1 test |
| Hearing loss, autosomal dominant 73 | 1 test |
| Hearing loss, autosomal recessive | 1 test |
| Hearing loss, autosomal recessive 106 | 1 test |
| Hearing loss, autosomal recessive 108 | 1 test |
| Heimler syndrome 1 | 1 test |
| Heimler syndrome 2 | 1 test |
| Hereditary disease | 1 test |
| Hereditary hearing loss and deafness | 1 test |
| Hereditary insensitivity to pain with anhidrosis | 2 tests |
| Hereditary liability to pressure palsies | 1 test |
| Hereditary sensory and autonomic neuropathy type 1 | 2 tests |
| Hereditary sensory neuropathy-deafness-dementia syndrome | 1 test |
| Hereditary spastic paraplegia 10 | 4 tests |
| Hereditary spastic paraplegia 11 | 5 tests |
| Hereditary spastic paraplegia 12 | 4 tests |
| Hereditary spastic paraplegia 13 | 4 tests |
| Hereditary spastic paraplegia 15 | 5 tests |
| Hereditary spastic paraplegia 17 | 4 tests |
| Hereditary spastic paraplegia 2 | 3 tests |
| Hereditary spastic paraplegia 30 | 4 tests |
| Hereditary spastic paraplegia 31 | 4 tests |
| Hereditary spastic paraplegia 35 | 4 tests |
| Hereditary spastic paraplegia 39 | 4 tests |
| Hereditary spastic paraplegia 3A | 5 tests |
| Hereditary spastic paraplegia 4 | 5 tests |
| Hereditary spastic paraplegia 42 | 4 tests |
| Hereditary spastic paraplegia 48 | 4 tests |
| Hereditary spastic paraplegia 5A | 4 tests |
| Hereditary spastic paraplegia 6 | 4 tests |
| Hereditary spastic paraplegia 7 | 5 tests |
| Hereditary spastic paraplegia 8 | 4 tests |
| Heterotopia, periventricular, X-linked dominant | 2 tests |
| High myopia-sensorineural deafness syndrome | 1 test |
| Hirschsprung disease, susceptibility to, 2 | 1 test |
| Holoprosencephaly 2 | 2 tests |
| Holoprosencephaly 3 | 2 tests |
| Huntington disease | 2 tests |
| Hyperinsulinemic hypoglycemia, familial, 1 | 2 tests |
| Hyperinsulinemic hypoglycemia, familial, 2 | 2 tests |
| Hyperinsulinism due to glucokinase deficiency | 2 tests |
| Hyperinsulinism-hyperammonemia syndrome | 2 tests |
| Hyperphosphatasia with intellectual disability syndrome 1 | 2 tests |
| Hyperphosphatasia with intellectual disability syndrome 2 | 2 tests |
| Hypertrophic cardiomyopathy 1 | 1 test |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 3 tests |
| Hypogonadotropic hypogonadism 11 with or without anosmia | 3 tests |
| Hypogonadotropic hypogonadism 12 with or without anosmia | 3 tests |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 5 tests |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 4 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 3 tests |
| Hypogonadotropic hypogonadism 6 with or without anosmia | 3 tests |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 8 with or without anosmia | 4 tests |
| Hypokalemic periodic paralysis, type 1 | 1 test |
| Hypokalemic periodic paralysis, type 2 | 4 tests |
| Hypomyelinating leukodystrophy 2 | 1 test |
| Hypomyelinating leukodystrophy 4 | 3 tests |
| Hypoparathyroidism, deafness, renal disease syndrome | 1 test |
| Ichthyosis, hystrix-like, with hearing loss | 1 test |
| Idiopathic generalized epilepsy | 1 test |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 2 tests |
| Infantile hypophosphatasia | 2 tests |
| Infantile neuroaxonal dystrophy | 2 tests |
| Infantile onset spinocerebellar ataxia | 3 tests |
| Infantile spasms | 2 tests |
| Infantile-onset X-linked spinal muscular atrophy | 2 tests |
| Intellectual disability, X-linked 1 | 2 tests |
| Intellectual disability, X-linked 30 | 2 tests |
| Intellectual disability, X-linked 72 | 2 tests |
| Intellectual disability, X-linked 96 | 2 tests |
| Intellectual disability, X-linked, with or without seizures, arx-related | 2 tests |
| Intellectual disability, autosomal dominant 1 | 2 tests |
| Intellectual disability, autosomal dominant 20 | 3 tests |
| Intellectual disability, autosomal dominant 24 | 3 tests |
| Intellectual disability, autosomal dominant 5 | 4 tests |
| Intellectual disability, autosomal dominant 8 | 2 tests |
| Intellectual disability, autosomal dominant 9 | 3 tests |
| Intellectual disability-epilepsy-extrapyramidal syndrome | 3 tests |
| Isolated focal cortical dysplasia type II | 4 tests |
| Isolated growth hormone deficiency type IB | 3 tests |
| Jervell and Lange-Nielsen syndrome 1 | 1 test |
| Jervell and Lange-Nielsen syndrome 2 | 1 test |
| Joubert syndrome 2 | 2 tests |
| Joubert syndrome 3 | 2 tests |
| Joubert syndrome 5 | 2 tests |
| Joubert syndrome 6 | 2 tests |
| Joubert syndrome 9 | 2 tests |
| Joubert syndrome with renal defect | 2 tests |
| Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 5 tests |
| KBG syndrome | 2 tests |
| Kabuki syndrome 1 | 1 test |
| Kennedy disease | 1 test |
| Keratosis follicularis | 2 tests |
| Kniest dysplasia | 1 test |
| Knuckle pads, deafness AND leukonychia syndrome | 1 test |
| Koolen-de Vries syndrome | 2 tests |
| Kufor-Rakeb syndrome | 2 tests |
| Kugelberg-Welander disease | 4 tests |
| L-2-hydroxyglutaric aciduria | 2 tests |
| LAMB2-related infantile-onset nephrotic syndrome | 2 tests |
| Lafora disease | 2 tests |
| Landau-Kleffner syndrome | 4 tests |
| Laurence-Moon syndrome | 3 tests |
| Leber optic atrophy | 1 test |
| Leigh syndrome | 2 tests |
| Lesch-Nyhan syndrome | 2 tests |
| Lethal neonatal spasticity-epileptic encephalopathy syndrome | 3 tests |
| Leucine-induced hypoglycemia | 2 tests |
| Levy-Hollister syndrome | 1 test |
| Liddle syndrome 1 | 5 tests |
| Lipoic acid synthetase deficiency | 3 tests |
| Lissencephaly 4 | 2 tests |
| Lissencephaly due to LIS1 mutation | 2 tests |
| Lissencephaly due to TUBA1A mutation | 2 tests |
| Lissencephaly type 1 due to doublecortin gene mutation | 3 tests |
| Long QT syndrome 2 | 2 tests |
| Luscan-Lumish syndrome | 2 tests |
| MASA syndrome | 3 tests |
| MEGF10-Related Myopathy | 1 test |
| MERRF syndrome | 3 tests |
| MYH7-related late-onset scapuloperoneal muscular dystrophy | 1 test |
| MYH7-related skeletal myopathy | 1 test |
| Macrocephaly-autism syndrome | 1 test |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 1 test |
| Malignant hyperthermia, susceptibility to, 1 | 1 test |
| Malignant hyperthermia, susceptibility to, 5 | 1 test |
| Mandibulofacial dysostosis with alopecia | 1 test |
| Marinesco-Sjögren syndrome | 3 tests |
| Marshall syndrome | 1 test |
| Mast syndrome | 4 tests |
| Maturity-onset diabetes of the young type 1 | 3 tests |
| Maturity-onset diabetes of the young type 2 | 5 tests |
| Maturity-onset diabetes of the young type 3 | 5 tests |
| Maturity-onset diabetes of the young type 4 | 2 tests |
| Maturity-onset diabetes of the young type 8 | 1 test |
| Megaconial type congenital muscular dystrophy | 1 test |
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 1 test |
| Merosin deficient congenital muscular dystrophy | 3 tests |
| Metachromatic leukodystrophy | 1 test |
| Microcephaly 1, primary, autosomal recessive | 4 tests |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 4 tests |
| Microcephaly 5, primary, autosomal recessive | 5 tests |
| Microcephaly 6, primary, autosomal recessive | 2 tests |
| Microcephaly 7, primary, autosomal recessive | 2 tests |
| Microcephaly, seizures, and developmental delay | 2 tests |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 2 tests |
| Migraine, familial hemiplegic, 1 | 9 tests |
| Migraine, familial hemiplegic, 2 | 4 tests |
| Migraine, familial hemiplegic, 3 | 4 tests |
| Mitochondrial DNA depletion syndrome 1 | 2 tests |
| Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive | 2 tests |
| Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 1 test |
| Mitochondrial DNA depletion syndrome 3 | 2 tests |
| Mitochondrial DNA depletion syndrome 4b | 4 tests |
| Mitochondrial DNA depletion syndrome 8a | 3 tests |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 2 tests |
| Mitochondrial DNA depletion syndrome, myopathic form | 2 tests |
| Mitochondrial complex I deficiency | 2 tests |
| Mitochondrial complex III deficiency nuclear type 1 | 1 test |
| Mitochondrial non-syndromic sensorineural hearing loss | 1 test |
| Miyoshi muscular dystrophy 1 | 4 tests |
| Miyoshi muscular dystrophy 3 | 2 tests |
| Mowat-Wilson syndrome | 2 tests |
| Muenke syndrome | 1 test |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 3 tests |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 3 tests |
| Multiple endocrine neoplasia, type 1 | 1 test |
| Multiple endocrine neoplasia, type 2a | 2 tests |
| Multiple endocrine neoplasia, type 2b | 2 tests |
| Multiple epiphyseal dysplasia | 1 test |
| Multiple epiphyseal dysplasia, Beighton type | 1 test |
| Muscle eye brain disease | 4 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 4 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 4 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 4 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 6 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 | 3 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 2 tests |
| Muscular dystrophy-dystroglycanopathy type B5 | 4 tests |
| Muscular dystrophy-dystroglycanopathy type B6 | 1 test |
| Mutilating keratoderma | 1 test |
| Myasthenic syndrome, congenital, 1B, fast-channel | 1 test |
| Myasthenic syndrome, slow-channel congenital | 1 test |
| Myoclonic dystonia 11 | 2 tests |
| Myoclonic-atonic epilepsy | 2 tests |
| Myofibrillar myopathy 1 | 3 tests |
| Myofibrillar myopathy 2 | 2 tests |
| Myofibrillar myopathy 3 | 4 tests |
| Myofibrillar myopathy 4 | 2 tests |
| Myofibrillar myopathy 5 | 2 tests |
| Myofibrillar myopathy 6 | 1 test |
| Myopathy, centronuclear, 2 | 1 test |
| Myopathy, myofibrillar, 9, with early respiratory failure | 4 tests |
| Myopathy, myosin storage, autosomal recessive | 2 tests |
| Myopathy, proximal, and ophthalmoplegia | 1 test |
| Myopathy, reducing body, X-linked, childhood-onset | 3 tests |
| Myopathy, reducing body, X-linked, early-onset, severe | 3 tests |
| Myosin storage myopathy | 2 tests |
| Myotonic dystrophy type 2 | 2 tests |
| NARP syndrome | 1 test |
| NDE1-related microhydranencephaly | 2 tests |
| Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome | 1 test |
| Navajo neurohepatopathy | 2 tests |
| Nemaline myopathy 1 | 1 test |
| Nemaline myopathy 2 | 2 tests |
| Nemaline myopathy 4 | 1 test |
| Nemaline myopathy 5 | 1 test |
| Nemaline myopathy 6 | 1 test |
| Nemaline myopathy 7 | 1 test |
| Nemaline myopathy 8 | 1 test |
| Nephronophthisis 1 | 1 test |
| Nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome | 1 test |
| Nephrotic syndrome 15 | 2 tests |
| Nephrotic syndrome, type 2 | 3 tests |
| Nephrotic syndrome, type 3 | 2 tests |
| Nephrotic syndrome, type 4 | 2 tests |
| Neurodegeneration with brain iron accumulation 5 | 3 tests |
| Neurofibromatosis, type 1 | 3 tests |
| Neurofibromatosis, type 2 | 3 tests |
| Neuronal ceroid lipofuscinosis 1 | 2 tests |
| Neuronal ceroid lipofuscinosis 10 | 2 tests |
| Neuronal ceroid lipofuscinosis 11 | 2 tests |
| Neuronal ceroid lipofuscinosis 13 | 2 tests |
| Neuronal ceroid lipofuscinosis 2 | 2 tests |
| Neuronal ceroid lipofuscinosis 3 | 2 tests |
| Neuronal ceroid lipofuscinosis 5 | 2 tests |
| Neuronal ceroid lipofuscinosis 7 | 2 tests |
| Neuronal ceroid lipofuscinosis 8 | 2 tests |
| Neuronopathy, distal hereditary motor, type 2C | 1 test |
| Neuronopathy, distal hereditary motor, type 5A | 3 tests |
| Neuronopathy, distal hereditary motor, type 5B | 3 tests |
| Neuronopathy, distal hereditary motor, type 7B | 1 test |
| Neuropathy, hereditary sensory and autonomic, type 1C | 2 tests |
| Neuropathy, hereditary sensory and autonomic, type 2A | 2 tests |
| Neuropathy, hereditary sensory, type 1D | 1 test |
| Neuropathy, hereditary sensory, type 2C | 3 tests |
| Non-ketotic hyperglycinemia | 3 tests |
| Nonsyndromic Deafness | 1 test |
| Noonan syndrome 1 | 1 test |
| Noonan syndrome 3 | 2 tests |
| Noonan syndrome 4 | 2 tests |
| Noonan syndrome 5 | 2 tests |
| Norman-Roberts syndrome | 2 tests |
| Obesity | 2 tests |
| Obesity due to leptin receptor gene deficiency | 2 tests |
| Ocular albinism with congenital sensorineural hearing loss | 1 test |
| Oculopharyngeal muscular dystrophy | 1 test |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 4 tests |
| Orofaciodigital syndrome I | 2 tests |
| Osteogenesis imperfecta type I | 2 tests |
| Osteogenesis imperfecta type III | 3 tests |
| Osteogenesis imperfecta with normal sclerae, dominant form | 3 tests |
| Osteogenesis imperfecta, recessive perinatal lethal | 3 tests |
| Osteoporosis with pseudoglioma | 1 test |
| Otofaciocervical syndrome 1 | 1 test |
| Otospondylomegaepiphyseal dysplasia, autosomal dominant | 1 test |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 1 test |
| PCWH syndrome | 1 test |
| PHARC syndrome | 1 test |
| PHGDH deficiency | 2 tests |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 3 tests |
| Paget disease of bone 3 | 1 test |
| Palmoplantar keratoderma-deafness syndrome | 1 test |
| Paroxysmal nonkinesigenic dyskinesia 1 | 1 test |
| Partial albinism | 1 test |
| Partington syndrome | 2 tests |
| Pelger-Huët anomaly | 2 tests |
| Pelizaeus-Merzbacher disease | 5 tests |
| Pendred syndrome | 1 test |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 1 test |
| Periventricular heterotopia with microcephaly, autosomal recessive | 2 tests |
| Permanent neonatal diabetes mellitus | 7 tests |
| Peroxisome biogenesis disorder 1A (Zellweger) | 1 test |
| Peroxisome biogenesis disorder 1B | 1 test |
| Peroxisome biogenesis disorder 4B | 1 test |
| Peroxisome biogenesis disorder 9B | 2 tests |
| Perrault syndrome 1 | 1 test |
| Perrault syndrome 2 | 1 test |
| Perrault syndrome 3 | 1 test |
| Perrault syndrome 4 | 1 test |
| Perry syndrome | 1 test |
| Pfeiffer syndrome | 1 test |
| Phelan-McDermid syndrome | 1 test |
| Pheochromocytoma | 3 tests |
| Phosphoribosylpyrophosphate synthetase superactivity | 1 test |
| Pierpont syndrome | 2 tests |
| Pigmentary pallidal degeneration | 2 tests |
| Pili torti-deafness syndrome | 1 test |
| Pitt-Hopkins syndrome | 2 tests |
| Pitt-Hopkins-like syndrome 2 | 2 tests |
| Pituitary hormone deficiency, combined, 1 | 2 tests |
| Pituitary hormone deficiency, combined, 2 | 2 tests |
| Polycystic kidney disease 2 | 5 tests |
| Polycystic kidney disease, adult type | 5 tests |
| Polyglandular autoimmune syndrome, type 1 | 2 tests |
| Polymicrogyria with optic nerve hypoplasia | 2 tests |
| Pontocerebellar hypoplasia type 1A | 1 test |
| Pontocerebellar hypoplasia type 2A | 2 tests |
| Pontocerebellar hypoplasia type 4 | 2 tests |
| Posterior column ataxia-retinitis pigmentosa syndrome | 3 tests |
| Postmenopausal osteoporosis | 1 test |
| Potassium-aggravated myotonia | 5 tests |
| Primary open angle glaucoma | 1 test |
| Progressive demyelinating neuropathy with bilateral striatal necrosis | 4 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 4 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 2 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 3 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 3 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 4 tests |
| Progressive myoclonic epilepsy type 3 | 3 tests |
| Progressive myoclonic epilepsy type 6 | 2 tests |
| Progressive myoclonic epilepsy type 7 | 2 tests |
| Progressive myoclonic epilepsy type 9 | 2 tests |
| Progressive sclerosing poliodystrophy | 5 tests |
| Pyridoxal phosphate-responsive seizures | 3 tests |
| Pyridoxine-dependent epilepsy | 2 tests |
| Pyruvate dehydrogenase complex deficiency | 1 test |
| RAPH BLOOD GROUP SYSTEM | 1 test |
| Renal cysts and diabetes syndrome | 4 tests |
| Renal tubular acidosis with progressive nerve deafness | 1 test |
| Renpenning syndrome | 3 tests |
| Rett syndrome | 2 tests |
| Rett syndrome, congenital variant | 4 tests |
| Rippling muscle disease 2 | 5 tests |
| Ritscher-Schinzel syndrome 1 | 3 tests |
| Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 3 tests |
| SHOX-related short stature | 2 tests |
| SLC35A2-CDG | 5 tests |
| Saethre-Chotzen syndrome | 1 test |
| Sarcotubular myopathy | 3 tests |
| Schinzel-Giedion syndrome | 2 tests |
| Schizencephaly | 2 tests |
| Schwannomatosis 1 | 3 tests |
| Schwartz-Jampel syndrome | 1 test |
| Seizure | 2 tests |
| Seizures, benign familial infantile, 2 | 4 tests |
| Seizures, benign familial neonatal, 2 | 2 tests |
| Sensorineural hearing loss disorder | 1 test |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 11 tests |
| Severe X-linked myotubular myopathy | 1 test |
| Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | 1 test |
| Severe autosomal recessive muscular dystrophy of childhood - North African type | 3 tests |
| Severe myoclonic epilepsy in infancy | 2 tests |
| Severe neonatal-onset encephalopathy with microcephaly | 4 tests |
| Severe neurodegenerative syndrome with lipodystrophy | 3 tests |
| Short stature due to partial GHR deficiency | 1 test |
| Simpson-Golabi-Behmel syndrome type 1 | 2 tests |
| Sinoatrial node dysfunction and deafness | 1 test |
| Sleep-related hypermotor epilepsy | 2 tests |
| Smith-Lemli-Opitz syndrome | 1 test |
| Smith-Magenis syndrome | 2 tests |
| Spastic ataxia 1 | 3 tests |
| Spastic ataxia 4 | 3 tests |
| Spastic ataxia 5 | 4 tests |
| Spheroid body myopathy | 3 tests |
| Spinal muscular atrophy, type II | 4 tests |
| Spinal muscular atrophy, type IV | 4 tests |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 2 tests |
| Spinocerebellar ataxia 7 | 4 tests |
| Spinocerebellar ataxia type 1 | 4 tests |
| Spinocerebellar ataxia type 10 | 4 tests |
| Spinocerebellar ataxia type 11 | 3 tests |
| Spinocerebellar ataxia type 12 | 3 tests |
| Spinocerebellar ataxia type 13 | 3 tests |
| Spinocerebellar ataxia type 14 | 3 tests |
| Spinocerebellar ataxia type 16 | 3 tests |
| Spinocerebellar ataxia type 17 | 4 tests |
| Spinocerebellar ataxia type 19/22 | 3 tests |
| Spinocerebellar ataxia type 2 | 4 tests |
| Spinocerebellar ataxia type 23 | 3 tests |
| Spinocerebellar ataxia type 26 | 3 tests |
| Spinocerebellar ataxia type 27 | 3 tests |
| Spinocerebellar ataxia type 28 | 5 tests |
| Spinocerebellar ataxia type 29 | 3 tests |
| Spinocerebellar ataxia type 35 | 3 tests |
| Spinocerebellar ataxia type 5 | 3 tests |
| Spinocerebellar ataxia type 6 | 1 test |
| Spinocerebellar ataxia type 8 | 4 tests |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | 3 tests |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 5 tests |
| Split hand-foot malformation 1 with sensorineural hearing loss | 1 test |
| Spondyloperipheral dysplasia-short ulna syndrome | 1 test |
| Steinert myotonic dystrophy syndrome | 3 tests |
| Stickler syndrome type 1 | 1 test |
| Stickler syndrome type 2 | 1 test |
| Stickler syndrome, type 4 | 1 test |
| Stickler syndrome, type 5 | 1 test |
| Syndromic X-linked intellectual disability 94 | 2 tests |
| Syndromic X-linked intellectual disability Claes-Jensen type | 2 tests |
| Syndromic X-linked intellectual disability Hedera type | 2 tests |
| Syndromic X-linked intellectual disability Snyder type | 2 tests |
| Temtamy preaxial brachydactyly syndrome | 1 test |
| Tibial muscular dystrophy | 4 tests |
| Tietz syndrome | 1 test |
| Torsion dystonia 6 | 2 tests |
| Townes-Brocks syndrome 1 | 1 test |
| Treacher Collins syndrome 2 | 1 test |
| Treacher Collins syndrome 3 | 1 test |
| Treacher-Collins syndrome 1 | 1 test |
| Tremor, hereditary essential, 4 | 1 test |
| Trichomegaly-retina pigmentary degeneration-dwarfism syndrome | 3 tests |
| Troyer syndrome | 4 tests |
| Tuberous sclerosis 1 | 3 tests |
| Tuberous sclerosis 2 | 7 tests |
| Type 2 diabetes mellitus | 7 tests |
| Ullrich congenital muscular dystrophy 1 | 1 test |
| Unverricht-Lundborg syndrome | 4 tests |
| Usher syndrome type 1 | 1 test |
| Usher syndrome type 1C | 1 test |
| Usher syndrome type 1D | 1 test |
| Usher syndrome type 1F | 1 test |
| Usher syndrome type 1G | 1 test |
| Usher syndrome type 1J | 1 test |
| Usher syndrome type 2A | 1 test |
| Usher syndrome type 2C | 1 test |
| Usher syndrome type 2D | 1 test |
| Usher syndrome type 3 | 1 test |
| Vanishing white matter disease | 6 tests |
| Velocardiofacial syndrome | 1 test |
| Von Hippel-Lindau syndrome | 2 tests |
| Waardenburg syndrome type 1 | 1 test |
| Waardenburg syndrome type 2A | 1 test |
| Waardenburg syndrome type 2D | 1 test |
| Waardenburg syndrome type 2E | 1 test |
| Waardenburg syndrome type 3 | 1 test |
| Waardenburg syndrome type 4A | 1 test |
| Waardenburg syndrome type 4B | 1 test |
| Waardenburg syndrome type 4C | 1 test |
| Warburg micro syndrome 1 | 2 tests |
| Welander distal myopathy | 1 test |
| Werdnig-Hoffmann disease | 4 tests |
| West syndrome | 2 tests |
| Wolfram syndrome 1 | 1 test |
| Wolfram syndrome 2 | 1 test |
| Wolfram-like syndrome | 1 test |
| X-linked Alport syndrome | 4 tests |
| X-linked Emery-Dreifuss muscular dystrophy | 2 tests |
| X-linked complicated corpus callosum dysgenesis | 3 tests |
| X-linked epilepsy-learning disabilities-behavior disorders syndrome | 2 tests |
| X-linked hydrocephalus syndrome | 3 tests |
| X-linked intellectual disability Cabezas type | 2 tests |
| X-linked intellectual disability, Cantagrel type | 2 tests |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 2 tests |
| X-linked intellectual disability-hypotonic face syndrome | 2 tests |
| X-linked lissencephaly with abnormal genitalia | 3 tests |
| X-linked mixed hearing loss with perilymphatic gusher | 1 test |
| X-linked myopathy with postural muscle atrophy | 4 tests |
| Xeroderma pigmentosum group B | 1 test |
| Xeroderma pigmentosum, group D | 1 test |
| Zimmermann-Laband syndrome 2 | 1 test |
| nonsyndromic sensorineural hearing loss | 1 test |