Institute for Genomic Medicine (IGM) Clinical Laboratory (Nationwide Children's Hospital)
General information
Institute for Genomic Medicine (IGM) Clinical Laboratory
Nationwide Children's Hospital
700 Children's Drive
Columbus
Ohio
United States - 43205
https://www.nationwidechildrens.org/specialties/laboratory-services
Organization ID: 196472
Nationwide Children's Hospital
700 Children's Drive
Columbus
Ohio
United States - 43205
https://www.nationwidechildrens.org/specialties/laboratory-services
Organization ID: 196472
Personnel
- Yassmine Akkari, Lab Director
Phone: +1 (614) 722-2859
Email: Yassmine.Akkari@nationwidechildrens.org - Everest Amy, Variant scientist/curator
Phone: 614-722-5321
Email: Amy.Everest@nationwidechildrens.org - Donald Corsmeier, Informatics staff
Phone: +1 (614) 722-4187
Email: Don.Corsmeier@nationwidechildrens.org - Catherine Cottrell, Lab Director
Phone: +1 (614) 722-2851
Email: Catherine.Cottrell@nationwidechildrens.org - Douglas Depoorter, Variant scientist/curator
Phone: +1 (614) 355-6852
Email: Douglas.Depoorter@nationwidechildrens.org - Garval Emma, Variant scientist/curator
Phone: +1 (614) 722-2833
Email: Emma.Garval@nationwidechildrens.org - Jia Hongtao, Variant scientist/curator
Phone: 614-722-5321
Email: Hongtao.Jia@nationwidechildrens.org - Ying-Chen (Claire) Hou, Lab Director
Phone: +1 (614) 355-5907
Email: Claire.Hou@nationwidechildrens.org - Jessica Howard, Variant scientist/curator
Phone: +1 (614) 355-6884
Email: Jessica.Howard@nationwidechildrens.org - Jesse Hunter, Lab Director
Phone: +1 (614) 355-3081
Email: Jesse.Hunter@nationwidechildrens.org - Vijayakumar Jayaraman, Variant scientist/curator
Phone: +1 (614) 355-6885
Email: Vijayakumar.Jayaraman@nationwidechildrens.org - Tsuchiya Karen, Lab Director
Phone: 614-722-5321
Email: Karen.Tsuchiya@nationwidechildrens.org - Marco Leung, Lab Director
Phone: +1 (614) 355-5839
Email: Marco.Leung@nationwidechildrens.org - Hernandez Liana, Variant scientist/curator
Phone: 614-722-5321
Email: Liana.Hernandez@nationwidechildrens.org - Lansdon Lisa, Lab Director
Phone: 614-722-5321
Email: Lisa.Lansdon@nationwidechildrens.org - Mariam Mathew, Lab Director
Phone: +1 (614) 355-3675
Email: Mariam.Mathew@nationwidechildrens.org - Farooqi Midhat, Lab Director
Phone: 614-722-5321
Email: Midhat.Farooqi@nationwidechildrens.org - Danielle Mouhlas, Genetic Counselor
Phone: +1 (614) 722-5229
Email: Danielle.Mouhlas@nationwidechildrens.org - Shalini Reshmi, Lab Director
Phone: +1 (614) 722-5779
Email: Shalini.Reshmi@nationwidechildrens.org - Li Reynold, Lab Director
Phone: 614-722-5321
Email: Reynold.Li@nationwidechildrens.org - Kathleen Schieffer, Lab Director
Phone: +1 (614) 355-2894
Email: Kathleen.Schieffer@nationwidechildrens.org - Gonzales Tessa, Variant scientist/curator
Phone: 614-722-5321
Email: Tessa.Gonzales@nationwidechildrens.org - Horner Vanessa, Lab Director
Phone: 614-722-5321
Email: Vanessa.Horner@nationwidechildrens.org - Alex Wagner, Principal Investigator
Phone: +1 (614) 355-1645
Email: Alex.Wagner@nationwidechildrens.org
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 2443
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AARS1 | 1 | Dec 14, 2018 |
| ABCC9 | 2 | May 21, 2020 |
| ACP5 | 1 | Dec 14, 2018 |
| ACTB | 1 | May 21, 2020 |
| ACVR1 | 9 | Nov 20, 2025 |
| ACVR2A | 1 | Nov 20, 2025 |
| ADAT3 | 1 | Dec 14, 2018 |
| AHDC1 | 1 | Dec 14, 2018 |
| AIP | 1 | Feb 12, 2026 |
| AKT1 | 8 | Nov 20, 2025 |
| AKT3 | 2 | Nov 20, 2025 |
| ALDH18A1 | 1 | Dec 14, 2018 |
| ALK | 17 | Feb 12, 2026 |
| AMER1 | 3 | Nov 20, 2025 |
| AMPD2 | 1 | May 21, 2020 |
| ANKRD11 | 4 | May 21, 2020 |
| ANO5 | 1 | Dec 14, 2018 |
| AP4M1 | 2 | May 21, 2020 |
| AP4S1 | 1 | May 21, 2020 |
| APC | 30 | Feb 12, 2026 |
| APTX | 1 | Dec 14, 2018 |
| ARID1A | 18 | Feb 12, 2026 |
| ARID1B | 4 | Nov 20, 2025 |
| ARID2 | 4 | Nov 20, 2025 |
| ARMC5 | 1 | Feb 12, 2026 |
| ARX | 1 | Feb 13, 2020 |
| ASIC4-AS1 | 1 | Dec 14, 2018 |
| ASMT | 1 | Dec 14, 2018 |
| ASXL1 | 5 | Nov 20, 2025 |
| ATM | 38 | Feb 12, 2026 |
| ATN1 | 2 | Dec 14, 2018 |
| ATP6V1A | 1 | May 21, 2020 |
| ATR | 3 | Feb 12, 2026 |
| ATRX | 22 | Nov 20, 2025 |
| ATXN1 | 1 | Dec 14, 2018 |
| ATXN3 | 1 | Dec 14, 2018 |
| ATXN7 | 2 | Dec 14, 2018 |
| AUTS2 | 1 | Dec 14, 2018 |
| AXIN2 | 1 | Nov 20, 2025 |
| B2M | 1 | Nov 20, 2025 |
| B3GLCT | 1 | Dec 14, 2018 |
| BAP1 | 1 | Feb 12, 2026 |
| BARD1 | 7 | Feb 12, 2026 |
| BCAP31 | 1 | Dec 14, 2018 |
| BCOR | 14 | Nov 20, 2025 |
| BCORL1 | 4 | Nov 20, 2025 |
| BLM | 1 | Feb 12, 2026 |
| BRAF | 51 | Feb 12, 2026 |
| BRCA1 | 18 | Feb 12, 2026 |
| BRCA2 | 35 | Feb 12, 2026 |
| BRIP1 | 10 | Feb 12, 2026 |
| C11orf65 | 18 | Feb 12, 2026 |
| C2CD3 | 2 | Dec 14, 2018 |
| CACNA1B | 1 | Dec 14, 2018 |
| CACNA1C | 1 | May 21, 2020 |
| CACNA1S | 1 | Dec 14, 2018 |
| CAMTA1 | 1 | May 21, 2020 |
| CARD11 | 1 | Nov 20, 2025 |
| CAV3 | 1 | May 21, 2020 |
| CBL | 8 | Feb 12, 2026 |
| CCDST | 3 | May 21, 2020 |
| CCND2 | 1 | May 21, 2020 |
| CCNH | 1 | Nov 20, 2025 |
| CDH1 | 4 | Feb 12, 2026 |
| CDH23 | 1 | Feb 12, 2026 |
| CDKL5 | 1 | Feb 13, 2020 |
| CDKN1B | 1 | Feb 12, 2026 |
| CDKN1C | 1 | Nov 20, 2025 |
| CDKN2A | 14 | Feb 12, 2026 |
| CEBPA | 2 | Feb 12, 2026 |
| CEP55 | 2 | Dec 14, 2018 |
| CFHR5 | 1 | Dec 14, 2018 |
| CFI | 1 | Dec 14, 2018 |
| CFTR | 1 | Dec 14, 2018 |
| CHD2 | 1 | May 21, 2020 |
| CHD7 | 8 | Nov 20, 2025 |
| CHEK2 | 22 | Feb 12, 2026 |
| CHRNB2 | 1 | Dec 14, 2018 |
| CIC | 5 | Nov 20, 2025 |
| COL11A1 | 1 | May 21, 2020 |
| COL3A1 | 1 | May 21, 2020 |
| COL5A1 | 1 | Dec 14, 2018 |
| COL6A3 | 2 | Dec 14, 2018 |
| COL7A1 | 1 | Feb 12, 2026 |
| CREBBP | 18 | Nov 20, 2025 |
| CSDE1 | 7 | Nov 20, 2025 |
| CSF3R | 1 | Dec 14, 2018 |
| CSNK2A1 | 2 | May 21, 2020 |
| CSNK2B | 7 | Nov 20, 2025 |
| CTCF | 1 | Nov 20, 2025 |
| CTDNEP1 | 4 | Nov 20, 2025 |
| CTLA4 | 1 | Feb 12, 2026 |
| CTNNA1 | 2 | Feb 12, 2026 |
| CTNNB1 | 81 | Nov 20, 2025 |
| CYLD | 1 | Feb 12, 2026 |
| D2HGDH | 1 | Dec 14, 2018 |
| DCHS1 | 1 | Dec 14, 2018 |
| DDX25 | 1 | May 21, 2020 |
| DDX3X | 54 | Feb 12, 2026 |
| DDX41 | 7 | Feb 12, 2026 |
| DGCR8 | 2 | Nov 20, 2025 |
| DHCR7 | 1 | Dec 14, 2018 |
| DICER1 | 97 | Feb 12, 2026 |
| DIS3 | 4 | Feb 12, 2026 |
| DMXL2 | 1 | Dec 14, 2018 |
| DNAI2 | 1 | Dec 14, 2018 |
| DNMT3A | 5 | Feb 12, 2026 |
| DROSHA | 5 | Feb 12, 2026 |
| DUOX2 | 1 | Dec 14, 2018 |
| DVL1 | 1 | Dec 14, 2018 |
| DYRK1A | 1 | May 21, 2020 |
| EED | 2 | Feb 12, 2026 |
| EFTUD2 | 1 | May 21, 2020 |
| EGFR | 21 | Nov 20, 2025 |
| EGFR-AS1 | 6 | Nov 20, 2025 |
| EHMT1 | 3 | May 21, 2020 |
| EIF1AX | 4 | Nov 20, 2025 |
| ELP1 | 29 | Feb 12, 2026 |
| EP300 | 2 | Nov 20, 2025 |
| EPAS1 | 1 | Nov 20, 2025 |
| EPG5 | 1 | Dec 14, 2018 |
| ERBB2 | 1 | Nov 20, 2025 |
| ERBB3 | 2 | Nov 20, 2025 |
| ERCC2 | 1 | Nov 20, 2025 |
| EXT2 | 3 | Feb 12, 2026 |
| EZH2 | 2 | Nov 20, 2025 |
| EZHIP | 3 | Nov 20, 2025 |
| FAT1 | 1 | Nov 20, 2025 |
| FBN1 | 1 | Dec 14, 2018 |
| FBXW7 | 32 | Nov 20, 2025 |
| FBXW7-AS1 | 2 | Nov 20, 2025 |
| FGFR1 | 40 | Feb 12, 2026 |
| FGFR2 | 2 | Nov 20, 2025 |
| FGFR3 | 2 | Feb 12, 2026 |
| FGFR4 | 15 | Nov 20, 2025 |
| FH | 4 | Feb 12, 2026 |
| FLCN | 2 | Feb 12, 2026 |
| FLG | 3 | May 21, 2020 |
| FLT3 | 1 | Nov 20, 2025 |
| FOXG1 | 1 | May 21, 2020 |
| FOXP1 | 2 | May 21, 2020 |
| FRG1 | 1 | Nov 20, 2025 |
| GABRB2 | 1 | May 21, 2020 |
| GABRB3 | 1 | May 21, 2020 |
| GABRG2 | 1 | May 21, 2020 |
| GLI2 | 3 | Nov 20, 2025 |
| GLIS3 | 1 | Dec 14, 2018 |
| GMPPA | 1 | Dec 14, 2018 |
| GNA14 | 1 | Nov 20, 2025 |
| GNAQ | 3 | Nov 20, 2025 |
| GNAS | 2 | Nov 20, 2025 |
| GPR161 | 3 | Feb 12, 2026 |
| GPS2 | 5 | Nov 20, 2025 |
| GRIN2A | 3 | Nov 20, 2025 |
| GRM3 | 1 | Nov 20, 2025 |
| GRM3-AS1 | 1 | Nov 20, 2025 |
| H3-3A | 4 | Nov 20, 2025 |
| H3C11 | 1 | Nov 20, 2025 |
| H3C2 | 2 | Nov 20, 2025 |
| H3C3 | 3 | Nov 20, 2025 |
| H3C4 | 1 | Nov 20, 2025 |
| HBB | 2 | May 21, 2020 |
| HDAC8 | 1 | Dec 14, 2018 |
| HNRNPK | 1 | May 21, 2020 |
| HOXB13 | 2 | Feb 12, 2026 |
| HRAS | 16 | Nov 20, 2025 |
| HTT | 1 | Dec 14, 2018 |
| HYLS1 | 1 | May 21, 2020 |
| IDH1 | 8 | Nov 20, 2025 |
| IDH2 | 2 | Nov 20, 2025 |
| IDUA | 1 | May 21, 2020 |
| IFT140 | 1 | May 21, 2020 |
| IGFALS | 1 | Dec 14, 2018 |
| IL10RA | 1 | Dec 14, 2018 |
| INSL6 | 1 | Nov 20, 2025 |
| IQSEC2 | 5 | May 21, 2020 |
| IRF4 | 1 | Nov 20, 2025 |
| ITGB3 | 1 | Dec 14, 2018 |
| JAK1 | 2 | Nov 20, 2025 |
| JAK2 | 2 | Nov 20, 2025 |
| KANSL1 | 1 | May 21, 2020 |
| KAT6B | 1 | Dec 14, 2018 |
| KATNIP | 1 | Dec 14, 2018 |
| KBTBD4 | 14 | Nov 20, 2025 |
| KCNQ1 | 2 | Dec 14, 2018 |
| KCNT1 | 1 | Dec 14, 2018 |
| KDM3B | 1 | Nov 20, 2025 |
| KDM5C | 3 | Nov 20, 2025 |
| KDM6A | 11 | Nov 20, 2025 |
| KDR | 1 | Nov 20, 2025 |
| KEAP1 | 1 | Nov 20, 2025 |
| KERA | 1 | May 21, 2020 |
| KIT | 23 | Nov 20, 2025 |
| KMT2A | 1 | Nov 20, 2025 |
| KMT2C | 8 | Nov 20, 2025 |
| KMT2D | 13 | Nov 20, 2025 |
| KRAS | 43 | Nov 20, 2025 |
| KRT85 | 1 | Dec 14, 2018 |
| LAMA2 | 1 | Dec 14, 2018 |
| LDLR | 1 | Dec 14, 2018 |
| LHCGR | 1 | Nov 20, 2025 |
| LOC100507346 | 4 | Feb 12, 2026 |
| LOC102724058 | 1 | May 21, 2020 |
| LOC105371046 | 1 | May 21, 2020 |
| LOC106099062 | 1 | May 21, 2020 |
| LOC107133510 | 2 | May 21, 2020 |
| LOC107303340 | 13 | Feb 12, 2026 |
| LOC108663996 | 2 | Dec 14, 2018 |
| LOC109461484 | 2 | Dec 14, 2018 |
| LOC110006319 | 1 | May 21, 2020 |
| LOC110806263 | 28 | Nov 20, 2025 |
| LOC111674477 | 1 | Dec 14, 2018 |
| LOC111811965 | 1 | Feb 12, 2026 |
| LOC123493282 | 1 | Nov 20, 2025 |
| LOC123956272 | 1 | Nov 20, 2025 |
| LOC126805603 | 1 | May 21, 2020 |
| LOC126805749 | 2 | Nov 20, 2025 |
| LOC126806573 | 1 | Dec 14, 2018 |
| LOC126806658 | 75 | Nov 20, 2025 |
| LOC126806659 | 1 | Nov 20, 2025 |
| LOC126860202 | 1 | Nov 20, 2025 |
| LOC126860794 | 1 | Nov 20, 2025 |
| LOC126861201 | 1 | Feb 12, 2026 |
| LOC126861339 | 1 | Feb 12, 2026 |
| LOC126862571 | 3 | Feb 12, 2026 |
| LOC126863239 | 2 | Nov 20, 2025 |
| LOC126863252 | 1 | Nov 20, 2025 |
| LOC129929027 | 1 | Dec 14, 2018 |
| LOC129929542 | 1 | Feb 12, 2026 |
| LOC129937585 | 1 | May 21, 2020 |
| LOC129996012 | 3 | Nov 20, 2025 |
| LOC130004614 | 2 | Feb 12, 2026 |
| LOC130005368 | 8 | Feb 12, 2026 |
| LOC130006206 | 1 | Feb 12, 2026 |
| LOC130058479 | 1 | Nov 20, 2025 |
| LOC130064183 | 1 | Feb 12, 2026 |
| LOC130067016 | 1 | Feb 12, 2026 |
| LOC130068183 | 1 | Nov 20, 2025 |
| LONP1 | 1 | Dec 14, 2018 |
| LRP1B | 1 | Nov 20, 2025 |
| LRRC56 | 16 | Nov 20, 2025 |
| LZTR1 | 21 | Feb 12, 2026 |
| MAK | 1 | Dec 14, 2018 |
| MAP2K1 | 7 | Nov 20, 2025 |
| MAP3K3 | 1 | Nov 20, 2025 |
| MAX | 5 | Feb 12, 2026 |
| MAX-AS1 | 1 | Feb 12, 2026 |
| MBD4 | 6 | Feb 12, 2026 |
| MEA1 | 1 | May 21, 2020 |
| MECP2 | 1 | May 21, 2020 |
| MED12 | 8 | Nov 20, 2025 |
| MED13L | 1 | May 21, 2020 |
| MED25 | 2 | May 21, 2020 |
| MEN1 | 4 | Feb 12, 2026 |
| MET | 5 | Nov 20, 2025 |
| MFSD11 | 1 | Nov 20, 2025 |
| MIR4733HG | 1 | Feb 12, 2026 |
| MITF | 1 | Nov 20, 2025 |
| MLH1 | 11 | Feb 12, 2026 |
| MSH2 | 6 | Feb 12, 2026 |
| MSH3 | 1 | Feb 12, 2026 |
| MSH6 | 16 | Feb 12, 2026 |
| MTOR | 3 | Nov 20, 2025 |
| MUTYH | 3 | Feb 12, 2026 |
| MYC | 4 | Nov 20, 2025 |
| MYCN | 3 | Nov 20, 2025 |
| MYCNOS | 3 | Nov 20, 2025 |
| MYH11 | 1 | Nov 20, 2025 |
| MYH7 | 2 | Dec 14, 2018 |
| MYOD1 | 1 | Nov 20, 2025 |
| MYOG | 2 | Nov 20, 2025 |
| MYOPARR | 2 | Nov 20, 2025 |
| MYT1L | 2 | May 21, 2020 |
| NAA10 | 1 | May 21, 2020 |
| NADSYN1 | 1 | Dec 14, 2018 |
| NBEA | 1 | May 21, 2020 |
| NBN | 1 | Feb 12, 2026 |
| NCOR1 | 1 | Nov 20, 2025 |
| NEB | 1 | Dec 14, 2018 |
| NEDD4L | 1 | May 21, 2020 |
| NF1 | 111 | Feb 12, 2026 |
| NF2 | 14 | Feb 12, 2026 |
| NLGN4X | 1 | Dec 14, 2018 |
| NLRP12 | 1 | Dec 14, 2018 |
| NOTCH1 | 12 | Nov 20, 2025 |
| NOTCH2 | 2 | Nov 20, 2025 |
| NPAT | 1 | Feb 12, 2026 |
| NPHP3-ACAD11 | 2 | May 21, 2020 |
| NPM1 | 1 | Nov 20, 2025 |
| NRAS | 32 | Nov 20, 2025 |
| NSD1 | 1 | Feb 12, 2026 |
| NSD2 | 8 | Nov 20, 2025 |
| NUBPL | 1 | May 21, 2020 |
| OPA1 | 2 | May 21, 2020 |
| OXTR | 1 | May 21, 2020 |
| PALB2 | 15 | Feb 12, 2026 |
| PALD1 | 1 | Dec 14, 2018 |
| PARN | 1 | May 21, 2020 |
| PBRM1 | 2 | Nov 20, 2025 |
| PDGFRA | 49 | Feb 12, 2026 |
| PDGFRB | 2 | Nov 20, 2025 |
| PHOX2B | 5 | Feb 12, 2026 |
| PIGA | 2 | May 21, 2020 |
| PIK3CA | 84 | Nov 20, 2025 |
| PIK3CB | 1 | Nov 20, 2025 |
| PIK3R1 | 30 | Nov 20, 2025 |
| PIK3R2 | 1 | Feb 13, 2020 |
| PKD1 | 1 | Nov 20, 2025 |
| PKP2 | 3 | Dec 14, 2018 |
| PLCB4 | 1 | Nov 20, 2025 |
| POLD1 | 3 | Feb 12, 2026 |
| POLE | 9 | Feb 12, 2026 |
| POLR1C | 1 | Nov 20, 2025 |
| POLR3B | 1 | May 21, 2020 |
| POT1 | 7 | Feb 12, 2026 |
| PPM1D | 1 | Nov 20, 2025 |
| PPP2R1A | 1 | Jun 15, 2021 |
| PPP2R5D | 1 | May 21, 2020 |
| PREX2 | 1 | Nov 20, 2025 |
| PRF1 | 1 | Dec 14, 2018 |
| PRKACA | 2 | Nov 20, 2025 |
| PRKAG2 | 1 | Dec 14, 2018 |
| PRKAR1A | 1 | Nov 20, 2025 |
| PRODH | 1 | Dec 14, 2018 |
| PRRC2B | 1 | Mar 4, 2021 |
| PTCH1 | 28 | Feb 12, 2026 |
| PTCH2 | 1 | Feb 12, 2026 |
| PTEN | 27 | Feb 12, 2026 |
| PTPN11 | 44 | Feb 12, 2026 |
| PTPRS | 1 | Nov 20, 2025 |
| PTPRT | 1 | Nov 20, 2025 |
| PUF60 | 2 | May 21, 2020 |
| PUS3 | 1 | May 21, 2020 |
| PYCR1 | 1 | May 21, 2020 |
| RAC1 | 2 | Nov 20, 2025 |
| RAD21 | 2 | Nov 20, 2025 |
| RAD50 | 1 | Nov 20, 2025 |
| RAD51B | 2 | Feb 12, 2026 |
| RAD51C | 8 | Feb 12, 2026 |
| RAD51D | 4 | Jul 30, 2026 |
| RAD51L3-RFFL | 4 | Jul 30, 2026 |
| RAF1 | 6 | Feb 12, 2026 |
| RAI1 | 2 | May 21, 2020 |
| RAP1B | 1 | Nov 20, 2025 |
| RASA1 | 1 | Nov 20, 2025 |
| RB1 | 19 | Feb 12, 2026 |
| RBM10 | 2 | Nov 20, 2025 |
| RBM28 | 1 | Dec 14, 2018 |
| RBPMS | 1 | Sep 25, 2020 |
| RECQL4 | 3 | Feb 12, 2026 |
| REST | 1 | Nov 20, 2025 |
| RET | 7 | Feb 12, 2026 |
| RIT1 | 1 | Nov 20, 2025 |
| RNASEH2B | 1 | Jan 4, 2023 |
| RNF43 | 1 | Nov 20, 2025 |
| ROBO1 | 1 | Nov 20, 2025 |
| ROBO2 | 1 | Nov 20, 2025 |
| RPL22 | 1 | Nov 20, 2025 |
| RPS24 | 1 | Dec 14, 2018 |
| RPS6KA3 | 2 | May 21, 2020 |
| RRAS2 | 9 | Feb 12, 2026 |
| RTEL1 | 2 | Feb 12, 2026 |
| RTEL1-TNFRSF6B | 2 | Feb 12, 2026 |
| RYR1 | 3 | May 21, 2020 |
| RYR2 | 1 | Dec 14, 2018 |
| SALL1 | 1 | May 21, 2020 |
| SAMHD1 | 2 | May 21, 2020 |
| SATB2 | 2 | May 21, 2020 |
| SCAMP4 | 1 | Dec 14, 2018 |
| SCN1A | 1 | May 21, 2020 |
| SCN1B | 1 | Dec 14, 2018 |
| SCN8A | 1 | May 21, 2020 |
| SDHA | 9 | Feb 12, 2026 |
| SDHAF2 | 2 | Feb 12, 2026 |
| SDHB | 10 | Feb 12, 2026 |
| SDHC | 2 | Feb 12, 2026 |
| SDHD | 5 | Feb 12, 2026 |
| SEC23B | 2 | Feb 12, 2026 |
| SERPINC1 | 1 | May 21, 2020 |
| SETBP1 | 1 | Dec 14, 2018 |
| SETD1B | 1 | Nov 20, 2025 |
| SETD2 | 8 | Nov 20, 2025 |
| SETD5 | 1 | May 21, 2020 |
| SF3B1 | 1 | Nov 20, 2025 |
| SHANK3 | 1 | May 21, 2020 |
| SLC17A5 | 2 | May 21, 2020 |
| SLC22A5 | 2 | May 21, 2020 |
| SLC2A1 | 2 | May 21, 2020 |
| SLC6A3 | 2 | May 21, 2020 |
| SLC6A8 | 1 | Dec 14, 2018 |
| SLX4 | 1 | Dec 14, 2018 |
| SMAD4 | 5 | Feb 12, 2026 |
| SMARCA2 | 1 | Dec 14, 2018 |
| SMARCA4 | 63 | Feb 12, 2026 |
| SMARCAL1 | 1 | Nov 20, 2025 |
| SMARCB1 | 22 | Feb 12, 2026 |
| SMARCE1 | 13 | Feb 12, 2026 |
| SMC1A | 2 | Nov 20, 2025 |
| SMO | 3 | Feb 12, 2026 |
| SMPD1 | 1 | Dec 14, 2018 |
| SOCS1 | 1 | Nov 20, 2025 |
| SON | 1 | May 21, 2020 |
| SOS1 | 4 | Feb 12, 2026 |
| SPOP | 1 | Nov 20, 2025 |
| SPRED1 | 1 | Feb 12, 2026 |
| SRCAP | 3 | Dec 14, 2018 |
| SRD5A2 | 2 | May 21, 2020 |
| SRSF2 | 1 | Nov 20, 2025 |
| STAG2 | 1 | Nov 20, 2025 |
| STK11 | 1 | Nov 20, 2025 |
| STON1-GTF2A1L | 1 | Nov 20, 2025 |
| STXBP1 | 2 | May 21, 2020 |
| SUFU | 19 | Feb 12, 2026 |
| SUZ12 | 3 | Feb 12, 2026 |
| SYNE1 | 1 | Dec 14, 2018 |
| SYNGAP1 | 1 | May 21, 2020 |
| SYNGAP1-AS1 | 1 | May 21, 2020 |
| TAOK1 | 1 | Dec 21, 2021 |
| TBCD | 2 | May 21, 2020 |
| TBL1XR1 | 1 | May 21, 2020 |
| TBP | 2 | Dec 14, 2018 |
| TBR1 | 1 | Nov 20, 2025 |
| TBX1 | 1 | May 21, 2020 |
| TCF4 | 2 | Nov 20, 2025 |
| TCF7L2 | 1 | Nov 20, 2025 |
| TCN2 | 1 | Dec 14, 2018 |
| TDP1 | 1 | Dec 14, 2018 |
| TECPR2 | 1 | Dec 14, 2018 |
| TEK | 1 | Nov 20, 2025 |
| TERT | 29 | Feb 12, 2026 |
| TET2 | 2 | Nov 20, 2025 |
| TET2-AS1 | 2 | Nov 20, 2025 |
| TGFBR1 | 1 | Dec 14, 2018 |
| TGFBR2 | 1 | Nov 20, 2025 |
| TGM6 | 1 | Dec 14, 2018 |
| TMEM127 | 1 | Feb 12, 2026 |
| TMIE | 1 | Dec 14, 2018 |
| TP53 | 256 | Feb 12, 2026 |
| TRAF7 | 1 | Nov 20, 2025 |
| TRIP12 | 1 | Feb 13, 2020 |
| TRNT1 | 2 | May 21, 2020 |
| TSC1 | 4 | Feb 12, 2026 |
| TSC2 | 11 | Feb 12, 2026 |
| TTC19 | 1 | Nov 20, 2025 |
| TUBB4A | 1 | May 21, 2020 |
| U2AF1 | 1 | Nov 20, 2025 |
| UBA5 | 2 | May 21, 2020 |
| USP9X | 1 | Dec 14, 2018 |
| VHL | 28 | Feb 12, 2026 |
| WT1 | 1 | Nov 20, 2025 |
| XPC | 2 | Feb 12, 2026 |
| XPO5 | 1 | Nov 20, 2025 |
| ZBTB20 | 1 | Mar 6, 2020 |
| ZEB2 | 2 | May 21, 2020 |
| ZFHX3 | 1 | Nov 20, 2025 |
| ZFHX3-AS1 | 1 | Nov 20, 2025 |
| ZIC1 | 1 | Nov 20, 2025 |
| ZNF469 | 1 | Dec 14, 2018 |
| ZNF687 | 1 | Feb 12, 2026 |
| ZNRF3 | 1 | Nov 20, 2025 |
| ZSWIM6 | 1 | Dec 14, 2018 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 10q partial trisomy syndrome | 8 tests |
| 11q partial monosomy syndrome | 8 tests |
| 13q partial monosomy syndrome | 8 tests |
| 18q partial monosomy syndrome | 8 tests |
| 22q partial monosomy | 8 tests |
| 22q11.2 deletion syndrome | 1 test |
| 3p- syndrome | 8 tests |
| 3q partial trisomy syndrome | 8 tests |
| 3q13 microdeletion syndrome | 8 tests |
| 4p partial monosomy syndrome | 8 tests |
| 5p partial monosomy syndrome | 8 tests |
| 6q partial trisomy syndrome | 8 tests |
| 8p inverted duplication/deletion syndrome | 8 tests |
| 9p partial trisomy syndrome | 8 tests |
| Alveolar rhabdomyosarcoma | 1 test |
| Aneuploidy, chromosomal rearrangements, chromosomal deletion, chromosomal duplication | 9 tests |
| Angelman syndrome | 1 test |
| Anomaly of sex chromosome | 9 tests |
| Astrocytoma | 1 test |
| Atypical Norrie disease due to monosomy Xp11.3 | 8 tests |
| Autism spectrum disorder | 2 tests |
| Autosomal chromosomal disorder | 10 tests |
| Autosomal monosomy | 8 tests |
| Autosomal trisomy | 8 tests |
| Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion | 8 tests |
| Brain glioma | 1 test |
| Cerebellar ataxia | 1 test |
| Chromosome 1, deletion q21 q25 | 8 tests |
| Chromosome 1, monosomy 1p22 p13 | 8 tests |
| Chromosome 1, monosomy 1p31 p22 | 8 tests |
| Chromosome 1, monosomy 1p32 | 8 tests |
| Chromosome 1, monosomy 1p34 p32 | 8 tests |
| Chromosome 1, monosomy 1q25 q32 | 8 tests |
| Chromosome 1, monosomy 1q32 q42 | 8 tests |
| Chromosome 1, trisomy 1q32 qter | 8 tests |
| Chromosome 1, trisomy 1q42-qter | 8 tests |
| Chromosome 10, trisomy 10pter p13 | 8 tests |
| Chromosome 10q duplication syndrome | 8 tests |
| Chromosome 11, partial trisomy 11q | 8 tests |
| Chromosome 11p Deletion Syndrome | 8 tests |
| Chromosome 11q trisomy | 8 tests |
| Chromosome 12p deletion | 8 tests |
| Chromosome 13q trisomy | 8 tests |
| Chromosome 14 deletion | 8 tests |
| Chromosome 14 trisomy | 8 tests |
| Chromosome 14, deletion 14q, partial duplication 14p | 8 tests |
| Chromosome 15q26-qter deletion syndrome | 8 tests |
| Chromosome 16 trisomy | 8 tests |
| Chromosome 17p deletion | 8 tests |
| Chromosome 18 mosaic monosomy | 8 tests |
| Chromosome 18 pericentric inversion | 8 tests |
| Chromosome 1p36 deletion syndrome | 8 tests |
| Chromosome 1q deletion | 8 tests |
| Chromosome 2, monosomy 2p22 | 8 tests |
| Chromosome 2, monosomy 2pter p24 | 8 tests |
| Chromosome 21, monosomy 21q22 | 8 tests |
| Chromosome 22, trisomy q11 q13 | 8 tests |
| Chromosome 3, monosomy 3p14 p11 | 8 tests |
| Chromosome 3, monosomy 3q21 23 | 8 tests |
| Chromosome 3, monosomy 3q27 | 8 tests |
| Chromosome 3, trisomy 3p | 8 tests |
| Chromosome 3, trisomy 3q13 2 q25 | 8 tests |
| Chromosome 4 short arm deletion | 8 tests |
| Chromosome 4, monosomy 4p14 p16 | 8 tests |
| Chromosome 4, monosomy 4q32 | 8 tests |
| Chromosome 4, monosomy distal 4q | 8 tests |
| Chromosome 4, partial trisomy distal 4q | 8 tests |
| Chromosome 4, trisomy 4q25 qter | 8 tests |
| Chromosome 5, trisomy 5p | 8 tests |
| Chromosome 5, trisomy 5pter p13 3 | 8 tests |
| Chromosome 6, deletion 6q13 q15 | 8 tests |
| Chromosome 6, monosomy 6q1 | 8 tests |
| Chromosome 6, monosomy 6q2 | 8 tests |
| Chromosome 6pter-p24 deletion syndrome | 8 tests |
| Chromosome 6q11-q14 deletion syndrome | 8 tests |
| Chromosome 6q24-q25 deletion syndrome | 8 tests |
| Chromosome 7, monosomy | 8 tests |
| Chromosome 7, monosomy 7q2 | 8 tests |
| Chromosome 7, monosomy 7q21 | 8 tests |
| Chromosome 7, monosomy 7q3 | 8 tests |
| Chromosome 7, partial monosomy 7p | 8 tests |
| Chromosome 8 deletion | 8 tests |
| Chromosome 8, monosomy 8p | 8 tests |
| Chromosome 8, monosomy 8p2 | 8 tests |
| Chromosome 8-derived supernumerary ring/marker | 8 tests |
| Chromosome 8Q12.1-q21.2 deletion syndrome | 8 tests |
| Chromosome 9 translocation | 8 tests |
| Chromosome 9, trisomy 9p | 8 tests |
| Chromosome 9, trisomy 9q | 8 tests |
| Chromosome 9p deletion syndrome | 8 tests |
| Chromosomes 1 and 2, monosomy 2q duplication 1p | 8 tests |
| Classic medulloblastoma | 1 test |
| Complete trisomy 13 syndrome | 8 tests |
| Complete trisomy 20 syndrome | 8 tests |
| Congenital chromosomal disease | 10 tests |
| Cystic fibrosis | 1 test |
| Deletion 13q syndrome, partial | 8 tests |
| Deletion 6q16 q21 | 8 tests |
| Deletion of long arm of chromosome 13 | 8 tests |
| Deletion of long arm of chromosome 18 | 8 tests |
| Deletion of short arm of chromosome 18 | 8 tests |
| Developmental delay | 1 test |
| DiGeorge syndrome | 1 test |
| Distal monosomy 12p | 8 tests |
| Distal monosomy 12q | 8 tests |
| Distal monosomy 14q | 8 tests |
| Distal monosomy 17q | 8 tests |
| Distal monosomy 19p13.3 | 8 tests |
| Distal monosomy 1q | 8 tests |
| Distal monosomy 20q | 8 tests |
| Distal monosomy 4q | 8 tests |
| Distal monosomy 7p | 8 tests |
| Distal monosomy 7q36 | 8 tests |
| Distal monosomy 9p syndrome | 8 tests |
| Distal trisomy 10q | 8 tests |
| Distal trisomy 11q | 8 tests |
| Distal trisomy 13q | 8 tests |
| Distal trisomy 14q | 8 tests |
| Distal trisomy 15q | 8 tests |
| Distal trisomy 16q | 8 tests |
| Distal trisomy 17q | 8 tests |
| Distal trisomy 18q | 8 tests |
| Distal trisomy 19q | 8 tests |
| Distal trisomy 1p36 | 8 tests |
| Distal trisomy 20q | 8 tests |
| Distal trisomy 22q | 8 tests |
| Distal trisomy 2p | 8 tests |
| Distal trisomy 2q | 8 tests |
| Distal trisomy 3p | 8 tests |
| Distal trisomy 4q | 8 tests |
| Distal trisomy 5q | 8 tests |
| Distal trisomy 6p | 8 tests |
| Distal trisomy 6q | 8 tests |
| Distal trisomy 7p | 8 tests |
| Distal trisomy 8q | 8 tests |
| Distal trisomy 9q | 8 tests |
| Down syndrome | 8 tests |
| Duplication 4p Syndrome | 8 tests |
| Extraskeletal Ewing sarcoma | 1 test |
| Familial monosomy 7 syndrome | 8 tests |
| Fragile X syndrome | 1 test |
| Fragile X-associated tremor/ataxia syndrome | 1 test |
| Galactosylceramide beta-galactosidase deficiency | 2 tests |
| Glioblastoma | 1 test |
| Glioma | 1 test |
| Hematologic neoplasm | 1 test |
| Hereditary disease | 1 test |
| Hurler syndrome | 1 test |
| Infantile Krabbe disease | 2 tests |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 1 test |
| Known OR suspected fetal abnormality affecting management of mother | 1 test |
| Male sterility due to Y-chromosome deletions | 8 tests |
| Maternal care for suspected chromosomal abnormality in fetus | 1 test |
| Medulloblastoma | 2 tests |
| Monosomy | 9 tests |
| Monosomy 13q34 | 8 tests |
| Monosomy 21 | 8 tests |
| Monosomy 22 | 8 tests |
| Monosomy 8q12 21 | 8 tests |
| Monosomy 8q21 q22 | 8 tests |
| Monosomy X | 8 tests |
| Mosaic trisomy 1 | 8 tests |
| Mosaic trisomy 10 | 8 tests |
| Mosaic trisomy 12 | 8 tests |
| Mosaic trisomy 14 | 8 tests |
| Mosaic trisomy 15 | 8 tests |
| Mosaic trisomy 17 | 8 tests |
| Mosaic trisomy 2 | 8 tests |
| Mosaic trisomy 20 | 8 tests |
| Mosaic trisomy 22 | 8 tests |
| Mosaic trisomy 3 | 8 tests |
| Mosaic trisomy 4 | 8 tests |
| Mosaic trisomy 5 | 8 tests |
| Mosaic trisomy 7 | 8 tests |
| Mosaic trisomy 8 | 8 tests |
| Mosaic trisomy 9 | 8 tests |
| Mosaic variegated aneuploidy syndrome | 8 tests |
| Mucopolysaccharidosis type 1 | 1 test |
| Mucopolysaccharidosis, MPS-I-H/S | 1 test |
| Mucopolysaccharidosis, MPS-I-S | 1 test |
| Multiple congenital anomalies | 1 test |
| Myelodysplastic syndrome associated with isolated del(5q) | 8 tests |
| Nephroblastoma | 1 test |
| Neuroblastoma | 3 tests |
| Non-distal monosomy 10q | 8 tests |
| Non-distal monosomy 12q | 8 tests |
| Non-distal monosomy 20q | 8 tests |
| Non-distal trisomy 10q | 8 tests |
| Non-distal trisomy 13q | 8 tests |
| Non-distal trisomy 9q | 8 tests |
| Partial Duplication 15q Syndrome | 8 tests |
| Partial autosomal deletion | 8 tests |
| Partial autosomal duplication/triplication | 8 tests |
| Partial chromosome Y deletion | 8 tests |
| Partial deletion of chromosome 1 | 8 tests |
| Partial deletion of chromosome 10 | 8 tests |
| Partial deletion of chromosome 11 | 8 tests |
| Partial deletion of chromosome 12 | 8 tests |
| Partial deletion of chromosome 16 | 8 tests |
| Partial deletion of chromosome 17 | 8 tests |
| Partial deletion of chromosome 18 | 8 tests |
| Partial deletion of chromosome 19 | 8 tests |
| Partial deletion of chromosome 2 | 8 tests |
| Partial deletion of chromosome 20 | 8 tests |
| Partial deletion of chromosome 3 | 8 tests |
| Partial deletion of chromosome 4 | 8 tests |
| Partial deletion of chromosome 5 | 8 tests |
| Partial deletion of chromosome 6 | 8 tests |
| Partial deletion of chromosome 7 | 8 tests |
| Partial deletion of chromosome 8 | 8 tests |
| Partial deletion of chromosome 9 | 8 tests |
| Partial deletion of chromosome X | 8 tests |
| Partial deletion of the long arm of chromosome 11 | 8 tests |
| Partial deletion of the long arm of chromosome 12 | 8 tests |
| Partial deletion of the long arm of chromosome 14 | 8 tests |
| Partial deletion of the long arm of chromosome 15 | 8 tests |
| Partial deletion of the long arm of chromosome 16 | 8 tests |
| Partial deletion of the long arm of chromosome 17 | 8 tests |
| Partial deletion of the long arm of chromosome 19 | 8 tests |
| Partial deletion of the long arm of chromosome 2 | 8 tests |
| Partial deletion of the long arm of chromosome 20 | 8 tests |
| Partial deletion of the long arm of chromosome 21 | 8 tests |
| Partial deletion of the long arm of chromosome 3 | 8 tests |
| Partial deletion of the long arm of chromosome 4 | 8 tests |
| Partial deletion of the long arm of chromosome 5 | 8 tests |
| Partial deletion of the long arm of chromosome 6 | 8 tests |
| Partial deletion of the long arm of chromosome 7 | 8 tests |
| Partial deletion of the long arm of chromosome 8 | 8 tests |
| Partial deletion of the long arm of chromosome X | 8 tests |
| Partial deletion of the short arm of chromosome 1 | 8 tests |
| Partial deletion of the short arm of chromosome 10 | 8 tests |
| Partial deletion of the short arm of chromosome 11 | 8 tests |
| Partial deletion of the short arm of chromosome 16 | 8 tests |
| Partial deletion of the short arm of chromosome 19 | 8 tests |
| Partial deletion of the short arm of chromosome 2 | 8 tests |
| Partial deletion of the short arm of chromosome 3 | 8 tests |
| Partial deletion of the short arm of chromosome 5 | 8 tests |
| Partial deletion of the short arm of chromosome 6 | 8 tests |
| Partial deletion of the short arm of chromosome 7 | 8 tests |
| Partial deletion of the short arm of chromosome 8 | 8 tests |
| Partial deletion of the short arm of chromosome 9 | 8 tests |
| Partial duplication of chromosome 1 | 8 tests |
| Partial duplication of chromosome 10 | 8 tests |
| Partial duplication of chromosome 11 | 8 tests |
| Partial duplication of chromosome 16 | 8 tests |
| Partial duplication of chromosome 17 | 8 tests |
| Partial duplication of chromosome 19 | 8 tests |
| Partial duplication of chromosome 2 | 8 tests |
| Partial duplication of chromosome 3 | 8 tests |
| Partial duplication of chromosome 4 | 8 tests |
| Partial duplication of chromosome 6 | 8 tests |
| Partial duplication of chromosome 7 | 8 tests |
| Partial duplication of chromosome 8 | 8 tests |
| Partial duplication of chromosome X | 8 tests |
| Partial duplication of the long arm of chromosome 1 | 8 tests |
| Partial duplication of the long arm of chromosome 12 | 8 tests |
| Partial duplication of the long arm of chromosome 14 | 8 tests |
| Partial duplication of the long arm of chromosome 15 | 8 tests |
| Partial duplication of the long arm of chromosome 17 | 8 tests |
| Partial duplication of the long arm of chromosome 19 | 8 tests |
| Partial duplication of the long arm of chromosome 2 | 8 tests |
| Partial duplication of the long arm of chromosome 22 | 8 tests |
| Partial duplication of the long arm of chromosome 3 | 8 tests |
| Partial duplication of the long arm of chromosome 4 | 8 tests |
| Partial duplication of the long arm of chromosome 6 | 8 tests |
| Partial duplication of the long arm of chromosome 7 | 8 tests |
| Partial duplication of the long arm of chromosome 8 | 8 tests |
| Partial duplication of the long arm of chromosome X | 8 tests |
| Partial duplication of the short arm of chromosome 1 | 8 tests |
| Partial duplication of the short arm of chromosome 10 | 8 tests |
| Partial duplication of the short arm of chromosome 11 | 8 tests |
| Partial duplication of the short arm of chromosome 16 | 8 tests |
| Partial duplication of the short arm of chromosome 17 | 8 tests |
| Partial duplication of the short arm of chromosome 19 | 8 tests |
| Partial duplication of the short arm of chromosome 2 | 8 tests |
| Partial duplication of the short arm of chromosome 3 | 8 tests |
| Partial duplication of the short arm of chromosome 4 | 8 tests |
| Partial duplication of the short arm of chromosome 6 | 8 tests |
| Partial duplication of the short arm of chromosome 7 | 8 tests |
| Partial duplication of the short arm of chromosome 8 | 8 tests |
| Partial duplication of the short arm of chromosome X | 8 tests |
| Partial monosomy of the long arm of chromosome 10 | 8 tests |
| Partial monosomy of the long arm of chromosome 9 | 8 tests |
| Partial monosomy of the short arm of chromosome 20 | 8 tests |
| Partial monosomy of the short arm of chromosome X | 8 tests |
| Partial trisomy of chromosome 20 | 8 tests |
| Partial trisomy of the long arm of chromosome 16 | 8 tests |
| Partial trisomy of the long arm of chromosome 18 | 8 tests |
| Partial trisomy of the long arm of chromosome 20 | 8 tests |
| Partial trisomy of the long arm of chromosome 5 | 8 tests |
| Partial trisomy of the long arm of chromosome 9 | 8 tests |
| Partial trisomy/tetrasomy of chromosome 18 | 8 tests |
| Partial trisomy/tetrasomy of chromosome 5 | 8 tests |
| Partial trisomy/tetrasomy of chromosome 9 | 8 tests |
| Partial trisomy/tetrasomy of the short arm of chromosome 12 | 8 tests |
| Partial trisomy/tetrasomy of the short arm of chromosome 18 | 8 tests |
| Partial trisomy/tetrasomy of the short arm of chromosome 5 | 8 tests |
| Pineoblastoma | 1 test |
| Pleomorphic xanthoastrocytoma | 1 test |
| Prader-Willi syndrome | 1 test |
| Prader-Willi syndrome due to translocation | 8 tests |
| Premature ovarian failure | 1 test |
| Ring chromosome | 8 tests |
| Ring chromosome 1 | 8 tests |
| Ring chromosome 10 | 8 tests |
| Ring chromosome 11 | 8 tests |
| Ring chromosome 12 | 8 tests |
| Ring chromosome 13 | 8 tests |
| Ring chromosome 14 | 8 tests |
| Ring chromosome 15 | 8 tests |
| Ring chromosome 16 | 8 tests |
| Ring chromosome 17 | 8 tests |
| Ring chromosome 18 | 8 tests |
| Ring chromosome 19 | 8 tests |
| Ring chromosome 19 syndrome | 8 tests |
| Ring chromosome 2 | 8 tests |
| Ring chromosome 20 syndrome | 8 tests |
| Ring chromosome 21 | 8 tests |
| Ring chromosome 22 | 8 tests |
| Ring chromosome 3 | 8 tests |
| Ring chromosome 4 syndrome | 8 tests |
| Ring chromosome 5 | 8 tests |
| Ring chromosome 6 | 8 tests |
| Ring chromosome 7 | 8 tests |
| Ring chromosome 9 | 8 tests |
| Ring chromosome Y | 8 tests |
| Soft tissue sarcoma | 1 test |
| Solid tumor | 1 test |
| Spinal muscular atrophy | 1 test |
| Tetraploidy syndrome | 8 tests |
| Total autosomal monosomy | 8 tests |
| Total autosomal trisomy | 8 tests |
| Triploidy | 8 tests |
| Trisomy | 9 tests |
| Trisomy 10p | 8 tests |
| Trisomy 11 mosaicism | 8 tests |
| Trisomy 12p | 8 tests |
| Trisomy 17p | 8 tests |
| Trisomy 18 | 8 tests |
| Trisomy 18p | 8 tests |
| Trisomy 1q | 8 tests |
| Trisomy 20p | 8 tests |
| Trisomy 22 | 8 tests |
| Trisomy 4p | 8 tests |
| Trisomy 5p | 8 tests |
| Trisomy 6 | 8 tests |
| Trisomy 8 | 8 tests |
| Trisomy 8p | 8 tests |
| Trisomy 8q | 8 tests |
| Trisomy 9 | 8 tests |
| Trisomy X syndrome | 8 tests |
| Wilms tumor 1 | 1 test |
| Wilms tumor 2 | 1 test |
| Wilms tumor 3 | 1 test |
| Wilms tumor 4 | 1 test |
| Wilms tumor 5 | 1 test |
| X chromosome deletion/duplication | 8 tests |
| X chromosome, duplication Xq13 1 q21 1 | 8 tests |
| X chromosome, monosomy Xq28 | 8 tests |
| X chromosome, trisomy Xp3 | 8 tests |
| X chromosome, trisomy Xpter Xq13 | 8 tests |
| X small rings | 8 tests |
| t(11;14) | 8 tests |
| t(14;16) | 8 tests |