Baylor Genetics
General information
Baylor Genetics
2450 Holcombe, Grand Blvd. - Sample Receiving Dock
Houston
Texas
United States - 77021-2024
https://www.baylorgenetics.com/
Organization ID: 1006
2450 Holcombe, Grand Blvd. - Sample Receiving Dock
Houston
Texas
United States - 77021-2024
https://www.baylorgenetics.com/
Organization ID: 1006
Personnel
- Ping Fang
- Jill Mokry, Contact
Phone: 713-798-5440
Email: mokry@bcm.edu - Rocio Dominguez Vidana, Contact
Phone: 8327902013
Email: clinvar@baylorgenetics.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 2648
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA1 | 1 | Nov 14, 2016 |
| ABCA4 | 2 | Mar 14, 2019 |
| ABCB11 | 1 | Apr 1, 2019 |
| ABCC6 | 2 | Aug 17, 2015 |
| ABCC9 | 2 | Mar 14, 2019 |
| ABL1 | 3 | May 26, 2020 |
| ACADM | 2 | Nov 14, 2016 |
| ACADVL | 8 | Sep 27, 2019 |
| ACO2 | 2 | Dec 16, 2015 |
| ACTA1 | 5 | Oct 16, 2017 |
| ACTA2 | 1 | Oct 16, 2017 |
| ACTB | 1 | Mar 14, 2019 |
| ACTG1 | 1 | Nov 14, 2016 |
| ACTG2 | 1 | Mar 14, 2019 |
| ACTL6A | 2 | Jun 14, 2018 |
| ACVR1 | 1 | Mar 14, 2019 |
| ACVRL1 | 1 | Oct 16, 2017 |
| ADA | 1 | Apr 1, 2019 |
| ADAR | 1 | Nov 14, 2016 |
| ADCY5 | 1 | Oct 16, 2017 |
| ADNP | 1 | Oct 16, 2017 |
| ADSL | 2 | Oct 16, 2017 |
| AFF2 | 1 | Apr 1, 2019 |
| AGK | 3 | Oct 16, 2017 |
| AGL | 4 | Sep 27, 2019 |
| AGPAT2 | 2 | Nov 14, 2016 |
| AGXT | 5 | Sep 27, 2019 |
| AHDC1 | 1 | Mar 14, 2019 |
| ALDH3A2 | 1 | Sep 27, 2019 |
| ALDOB | 5 | Sep 27, 2019 |
| ALG12 | 2 | Oct 16, 2017 |
| ALG6 | 2 | Nov 14, 2016 |
| ALPK3 | 2 | Mar 14, 2019 |
| ANKRD11 | 13 | Mar 14, 2019 |
| ANTXR2 | 2 | Aug 17, 2015 |
| AOPEP | 4 | Sep 27, 2019 |
| AP4M1 | 2 | Oct 16, 2017 |
| APBB1 | 2 | Sep 27, 2019 |
| APOB | 1 | Nov 14, 2016 |
| ARHGEF10 | 1 | Nov 14, 2016 |
| ARID1A | 3 | Mar 14, 2019 |
| ARID1B | 16 | Apr 1, 2019 |
| ARSA | 6 | Sep 27, 2019 |
| ASAH1 | 2 | Oct 16, 2017 |
| ASL | 4 | Sep 27, 2019 |
| ASPA | 13 | Sep 27, 2019 |
| ASS1 | 38 | Sep 27, 2019 |
| ASXL1 | 1 | Oct 16, 2017 |
| ASXL3 | 3 | Mar 14, 2019 |
| ATL1 | 3 | Mar 14, 2019 |
| ATM | 14 | Sep 27, 2019 |
| ATP13A2 | 2 | Aug 17, 2015 |
| ATP1A2 | 1 | Oct 16, 2017 |
| ATP1A3 | 3 | Mar 14, 2019 |
| ATP2B3 | 1 | Oct 16, 2017 |
| ATP7A | 1 | Apr 1, 2019 |
| ATP7B | 13 | Sep 27, 2019 |
| ATRIP | 4 | Mar 14, 2019 |
| ATRIP-TREX1 | 4 | Mar 14, 2019 |
| ATRX | 5 | Mar 14, 2019 |
| AVPR2 | 1 | Nov 14, 2016 |
| B3GALNT2 | 2 | Oct 16, 2017 |
| B3GAT3 | 1 | Oct 16, 2017 |
| BAG3 | 1 | Oct 16, 2017 |
| BBS1 | 2 | Oct 16, 2017 |
| BBS10 | 4 | Sep 27, 2019 |
| BCAP31 | 1 | Nov 14, 2016 |
| BCS1L | 4 | Sep 27, 2019 |
| BICD2 | 1 | Oct 16, 2017 |
| BLM | 2 | Nov 14, 2016 |
| BPTF | 8 | Jul 10, 2017 |
| BRAF | 6 | Aug 17, 2015 |
| BRCA1 | 62 | Feb 23, 2017 |
| BRCA2 | 84 | Feb 23, 2017 |
| BRCC3 | 1 | Apr 1, 2019 |
| BRF1 | 2 | Mar 14, 2019 |
| BRWD1 | 1 | Oct 16, 2017 |
| BRWD3 | 1 | Nov 14, 2016 |
| C11orf65 | 10 | Sep 27, 2019 |
| C12orf57 | 1 | Oct 16, 2017 |
| C17orf107 | 3 | Sep 27, 2019 |
| C1QTNF5 | 1 | Aug 17, 2015 |
| CA2 | 1 | Nov 14, 2016 |
| CACNA1A | 5 | Jun 1, 2020 |
| CACNA1S | 1 | Aug 17, 2015 |
| CACNB4 | 1 | Nov 14, 2016 |
| CAPN3 | 5 | Sep 27, 2019 |
| CASK | 2 | Mar 14, 2019 |
| CASR | 1 | Oct 16, 2017 |
| CBL | 2 | Mar 14, 2019 |
| CBS | 5 | Sep 27, 2019 |
| CCDC103 | 1 | Oct 16, 2017 |
| CDH23 | 2 | Sep 27, 2019 |
| CDK13 | 1 | Mar 14, 2019 |
| CDKL5 | 3 | Oct 16, 2017 |
| CFAP52 | 1 | Apr 1, 2019 |
| CFTR | 185 | Sep 27, 2019 |
| CFTR-AS1 | 20 | Sep 27, 2019 |
| CHAT | 2 | Sep 27, 2019 |
| CHD2 | 3 | Oct 16, 2017 |
| CHD7 | 4 | Mar 14, 2019 |
| CHD8 | 3 | Oct 16, 2017 |
| CHKB | 1 | Oct 16, 2017 |
| CHKB-CPT1B | 1 | Oct 16, 2017 |
| CHRNA7 | 1 | Oct 16, 2017 |
| CHRNE | 5 | Sep 27, 2019 |
| CHRNG | 1 | Oct 16, 2017 |
| CHROMR | 2 | Mar 14, 2019 |
| CLCN1 | 5 | Mar 14, 2019 |
| CLCN5 | 1 | Oct 16, 2017 |
| CLN5 | 1 | Sep 27, 2019 |
| CLN8 | 1 | Sep 27, 2019 |
| CLRN1 | 2 | Sep 27, 2019 |
| CLRN1-AS1 | 1 | Sep 27, 2019 |
| CNGA3 | 1 | Mar 14, 2019 |
| CNTNAP1 | 1 | Oct 16, 2017 |
| COL11A1 | 2 | Oct 16, 2017 |
| COL12A1 | 1 | Mar 14, 2019 |
| COL1A1 | 9 | Nov 23, 2018 |
| COL1A2 | 6 | Mar 14, 2019 |
| COL2A1 | 1 | Oct 16, 2017 |
| COL3A1 | 1 | Mar 14, 2019 |
| COL4A1 | 3 | Oct 16, 2017 |
| COL4A2 | 1 | Oct 16, 2017 |
| COL4A4 | 1 | Apr 1, 2019 |
| COL4A5 | 2 | Apr 1, 2019 |
| COL5A1 | 2 | Nov 14, 2016 |
| COL6A3 | 1 | Oct 16, 2017 |
| COL7A1 | 3 | Mar 14, 2019 |
| COL9A1 | 1 | Nov 14, 2016 |
| COL9A3 | 1 | Nov 14, 2016 |
| COQ2 | 1 | Mar 14, 2019 |
| CPLANE1 | 2 | Mar 14, 2019 |
| CPOX | 1 | Nov 14, 2016 |
| CPT1A | 2 | Sep 27, 2019 |
| CPT2 | 6 | Sep 27, 2019 |
| CRBN | 1 | Aug 17, 2015 |
| CREBBP | 2 | Mar 14, 2019 |
| CRIPT | 2 | Dec 23, 2015 |
| CRPPA | 2 | Oct 16, 2017 |
| CRYGD | 1 | Mar 14, 2019 |
| CSF1R | 1 | Aug 17, 2015 |
| CTNNB1 | 3 | Oct 16, 2017 |
| CTNS | 2 | Sep 27, 2019 |
| CYP1B1 | 6 | Sep 27, 2019 |
| CYP27A1 | 3 | Sep 27, 2019 |
| CYP7B1 | 1 | Oct 16, 2017 |
| DCAF17 | 1 | Aug 17, 2015 |
| DCX | 1 | Oct 16, 2017 |
| DDX3X | 2 | Mar 14, 2019 |
| DEAF1 | 6 | Oct 16, 2017 |
| DES | 1 | Aug 17, 2015 |
| DGAT1 | 1 | Oct 16, 2017 |
| DHCR24 | 1 | Oct 16, 2017 |
| DHCR7 | 43 | Sep 27, 2019 |
| DHX30 | 1 | Mar 14, 2019 |
| DIAPH1 | 1 | Apr 1, 2019 |
| DKC1 | 1 | Oct 16, 2017 |
| DMD | 14 | Sep 27, 2019 |
| DNAH5 | 2 | Oct 16, 2017 |
| DNAJB2 | 1 | Aug 17, 2015 |
| DNM1 | 1 | Nov 14, 2016 |
| DNM1L | 5 | Mar 14, 2019 |
| DNM2 | 3 | Oct 16, 2017 |
| DOK7 | 8 | Sep 27, 2019 |
| DPAGT1 | 1 | Oct 16, 2017 |
| DPYD | 7 | Sep 27, 2019 |
| DVL3 | 1 | Mar 14, 2019 |
| DYNC1H1 | 3 | Oct 16, 2017 |
| DYNC2H1 | 2 | Oct 16, 2017 |
| DYRK1A | 6 | Oct 16, 2017 |
| EBF3 | 2 | Nov 12, 2016 |
| ECEL1 | 1 | Nov 14, 2016 |
| ECHS1 | 2 | Mar 14, 2019 |
| EEF1A2 | 1 | Oct 16, 2017 |
| EFHC1 | 1 | Oct 16, 2017 |
| EFTUD2 | 2 | Oct 16, 2017 |
| EHMT1 | 3 | Oct 16, 2017 |
| EIF2AK2 | 2 | Feb 21, 2020 |
| EIF2B3 | 1 | Oct 16, 2017 |
| EIF2B5 | 3 | Sep 27, 2019 |
| ELAC2 | 2 | Oct 16, 2017 |
| ELOVL4 | 2 | Oct 16, 2017 |
| ENG | 1 | Oct 16, 2017 |
| ENPP1 | 2 | Oct 16, 2017 |
| EP300 | 3 | Mar 14, 2019 |
| EPB41L1 | 1 | Oct 16, 2017 |
| EPHX1 | 1 | Oct 16, 2017 |
| ERCC6 | 3 | Oct 16, 2017 |
| ETHE1 | 1 | Nov 14, 2016 |
| EVC2 | 2 | Oct 16, 2017 |
| EXOSC3 | 1 | Oct 16, 2017 |
| F7 | 1 | Nov 14, 2016 |
| FAH | 19 | Sep 27, 2019 |
| FANCC | 20 | Sep 27, 2019 |
| FANCG | 1 | Nov 14, 2016 |
| FASTKD2 | 1 | Oct 16, 2017 |
| FBLN5 | 1 | Mar 14, 2019 |
| FBN1 | 4 | Mar 14, 2019 |
| FBN2 | 1 | Oct 16, 2017 |
| FBXL4 | 3 | Oct 16, 2017 |
| FDXR | 2 | Mar 14, 2019 |
| FGD1 | 1 | Nov 14, 2016 |
| FGFR1 | 2 | Mar 14, 2019 |
| FGFR2 | 3 | Nov 23, 2018 |
| FGFR3 | 8 | Mar 14, 2019 |
| FH | 2 | Sep 27, 2019 |
| FHL1 | 1 | Mar 14, 2019 |
| FKTN | 3 | Sep 27, 2019 |
| FLG | 3 | Nov 14, 2016 |
| FLNA | 2 | Oct 16, 2017 |
| FOXG1 | 1 | Oct 16, 2017 |
| FOXP1 | 4 | Mar 14, 2019 |
| FTCD | 2 | Aug 17, 2015 |
| G6PC1 | 18 | Sep 27, 2019 |
| G6PC3 | 1 | Oct 16, 2017 |
| GAA | 2 | Oct 16, 2017 |
| GABRB3 | 1 | Aug 17, 2015 |
| GABRG2 | 1 | Mar 14, 2019 |
| GALC | 6 | Sep 27, 2019 |
| GALNT3 | 1 | Oct 16, 2017 |
| GALT | 27 | Sep 27, 2019 |
| GAN | 3 | Mar 14, 2019 |
| GAREM2 | 1 | Sep 27, 2019 |
| GARS1 | 1 | Aug 17, 2015 |
| GATAD1 | 9 | Sep 27, 2019 |
| GATAD2B | 1 | Nov 14, 2016 |
| GBA | 31 | Sep 27, 2019 |
| GCDH | 4 | Sep 27, 2019 |
| GDF6 | 1 | Nov 14, 2016 |
| GFAP | 1 | Nov 14, 2016 |
| GFER | 2 | Oct 16, 2017 |
| GH-LCR | 2 | Oct 16, 2017 |
| GJB2 | 16 | Sep 27, 2019 |
| GJC2 | 1 | Oct 16, 2017 |
| GLB1 | 4 | Mar 14, 2019 |
| GLDC | 4 | Sep 27, 2019 |
| GLI2 | 3 | Nov 14, 2016 |
| GLI3 | 1 | Nov 14, 2016 |
| GMNN | 3 | Jun 23, 2015 |
| GNAO1 | 2 | Mar 14, 2019 |
| GNAS | 1 | Aug 17, 2015 |
| GNE | 5 | Sep 27, 2019 |
| GNPTAB | 4 | Sep 27, 2019 |
| GRHPR | 1 | Sep 27, 2019 |
| GRIA3 | 3 | Oct 16, 2017 |
| GRIN1 | 3 | Oct 16, 2017 |
| GRIN2A | 1 | Oct 16, 2017 |
| GRIN2B | 8 | Oct 16, 2017 |
| HADHA | 1 | Sep 27, 2019 |
| HAX1 | 2 | Oct 16, 2017 |
| HBB | 42 | Sep 27, 2019 |
| HDAC8 | 8 | Mar 14, 2019 |
| HEXA | 4 | Oct 16, 2017 |
| HEXB | 4 | Sep 27, 2019 |
| HGSNAT | 1 | Oct 16, 2017 |
| HIBCH | 2 | Mar 14, 2019 |
| HMBS | 1 | Mar 14, 2019 |
| HNF4A | 1 | Mar 14, 2019 |
| HNRNPU | 6 | Oct 16, 2017 |
| HOXD13 | 1 | Mar 14, 2019 |
| HRAS | 6 | Oct 16, 2017 |
| HSD17B4 | 3 | Sep 27, 2019 |
| HSPG2 | 2 | Aug 17, 2015 |
| HUWE1 | 2 | Oct 16, 2017 |
| IDH2 | 1 | Oct 16, 2017 |
| IDUA | 1 | Nov 14, 2016 |
| IGHMBP2 | 1 | Oct 16, 2017 |
| IQSEC2 | 1 | Mar 14, 2019 |
| IRF6 | 1 | Oct 16, 2017 |
| IRX5 | 2 | Nov 14, 2016 |
| ISCA2 | 1 | Nov 14, 2016 |
| ITGA3 | 2 | Aug 17, 2015 |
| ITPR1 | 2 | Mar 14, 2019 |
| IVD | 15 | Sep 27, 2019 |
| JAG1 | 1 | Nov 23, 2018 |
| KANSL1 | 5 | Mar 14, 2019 |
| KAT6A | 1 | Nov 14, 2016 |
| KAT6B | 2 | Mar 14, 2019 |
| KCNJ2 | 1 | Mar 14, 2019 |
| KCNK9 | 1 | Oct 16, 2017 |
| KCNMA1 | 1 | Oct 16, 2017 |
| KCNQ2 | 4 | Oct 16, 2017 |
| KCNT1 | 7 | Mar 14, 2019 |
| KCTD7 | 1 | Oct 16, 2017 |
| KDM5C | 1 | Nov 14, 2016 |
| KDM6A | 1 | Oct 16, 2017 |
| KIF1A | 8 | Aug 20, 2020 |
| KIF1C | 2 | Aug 17, 2015 |
| KIF5C | 1 | Aug 17, 2015 |
| KMT2A | 5 | Mar 14, 2019 |
| KMT2C | 2 | Oct 16, 2017 |
| KMT2D | 5 | Mar 14, 2019 |
| KPNA7 | 2 | Aug 17, 2015 |
| KRAS | 6 | Mar 14, 2019 |
| KRIT1 | 1 | Nov 14, 2016 |
| KRT14 | 1 | Oct 16, 2017 |
| KRT81 | 1 | Oct 16, 2017 |
| KRT86 | 1 | Oct 16, 2017 |
| L1CAM | 1 | Mar 14, 2019 |
| LAMB1 | 2 | Oct 16, 2017 |
| LAMB3 | 3 | Sep 27, 2019 |
| LAMC3 | 2 | Oct 16, 2017 |
| LAMP2 | 1 | Oct 16, 2017 |
| LARS1 | 2 | Oct 16, 2017 |
| LARS2 | 2 | Mar 14, 2019 |
| LAS1L | 1 | Nov 14, 2016 |
| LIFR | 2 | Oct 16, 2017 |
| LIPT1 | 2 | Oct 16, 2017 |
| LMNA | 2 | Oct 16, 2017 |
| LMX1B | 1 | Apr 1, 2019 |
| LOC100507443 | 1 | Mar 14, 2019 |
| LOC102723566 | 1 | Oct 16, 2017 |
| LOC102724058 | 4 | Mar 14, 2019 |
| LOC106099062 | 31 | Sep 27, 2019 |
| LOC106627981 | 29 | Sep 27, 2019 |
| LOC107133510 | 42 | Sep 27, 2019 |
| LOC110006319 | 12 | Sep 27, 2019 |
| LOC111674472 | 26 | Sep 27, 2019 |
| LOC111674475 | 9 | Sep 27, 2019 |
| LOC111674477 | 4 | Sep 27, 2019 |
| LOC111721705 | 1 | Oct 16, 2017 |
| LOC113664106 | 4 | Sep 27, 2019 |
| LOC115308161 | 1 | Nov 14, 2016 |
| LOXHD1 | 2 | Nov 14, 2016 |
| LPAR6 | 1 | Nov 14, 2016 |
| LRP2 | 2 | Mar 14, 2019 |
| LRPPRC | 5 | Sep 27, 2019 |
| LRRC56 | 6 | Oct 16, 2017 |
| MAF | 1 | Nov 14, 2016 |
| MAGEL2 | 3 | Oct 16, 2017 |
| MAN2B1 | 5 | Sep 27, 2019 |
| MAP2K1 | 2 | Oct 16, 2017 |
| MAP2K2 | 4 | Sep 24, 2014 |
| MBD5 | 1 | Oct 16, 2017 |
| MCCC2 | 1 | Nov 14, 2016 |
| MCM7 | 1 | Oct 16, 2017 |
| MCOLN1 | 9 | Sep 27, 2019 |
| MECP2 | 5 | Mar 14, 2019 |
| MED12 | 1 | Oct 16, 2017 |
| MED13L | 3 | Apr 1, 2019 |
| MEF2C | 1 | Aug 17, 2015 |
| MEGF10 | 1 | Nov 14, 2016 |
| MEGF8 | 3 | Oct 16, 2017 |
| MFN2 | 1 | Aug 17, 2015 |
| MFRP | 1 | Aug 17, 2015 |
| MIPEP | 6 | Jun 19, 2015 |
| MITD1 | 2 | Oct 16, 2017 |
| MLC1 | 1 | Sep 27, 2019 |
| MMACHC | 30 | Sep 27, 2019 |
| MMP2 | 1 | Nov 14, 2016 |
| MPL | 3 | Sep 27, 2019 |
| MPZ | 1 | Nov 14, 2016 |
| MRE11 | 1 | Oct 16, 2017 |
| MSL2 | 1 | Apr 8, 2018 |
| MT-ATP6 | 1 | Aug 17, 2015 |
| MT-ND6 | 1 | Aug 17, 2015 |
| MTFMT | 2 | Oct 16, 2017 |
| MTM1 | 1 | Mar 14, 2019 |
| MTPAP | 1 | Nov 14, 2016 |
| MTRFR | 1 | Oct 16, 2017 |
| MVK | 2 | Aug 17, 2015 |
| MYH2 | 1 | Nov 14, 2016 |
| MYH6 | 1 | Oct 16, 2017 |
| MYH7 | 2 | Mar 14, 2019 |
| MYHAS | 1 | Nov 14, 2016 |
| MYO1F | 1 | Nov 14, 2016 |
| MYO5A | 1 | Oct 16, 2017 |
| MYO7A | 8 | Sep 27, 2019 |
| NAA10 | 2 | Mar 14, 2019 |
| NACC1 | 1 | Mar 14, 2019 |
| NBN | 3 | Sep 27, 2019 |
| NDE1 | 2 | Apr 1, 2019 |
| NDUFAF2 | 1 | Oct 16, 2017 |
| NDUFAF5 | 1 | Oct 16, 2017 |
| NDUFS1 | 2 | Oct 16, 2017 |
| NDUFV1 | 1 | Mar 14, 2019 |
| NEXMIF | 3 | Oct 16, 2017 |
| NF1 | 2 | Oct 16, 2017 |
| NF2 | 1 | Mar 14, 2019 |
| NFIX | 1 | Aug 17, 2015 |
| NGLY1 | 1 | Aug 17, 2015 |
| NIPAL4 | 1 | Oct 16, 2017 |
| NIPBL | 7 | Nov 23, 2018 |
| NKX2-1 | 2 | Mar 14, 2019 |
| NLGN4X | 2 | Oct 16, 2017 |
| NLRC4 | 1 | Nov 14, 2016 |
| NOTCH1 | 1 | Nov 14, 2016 |
| NPC1 | 13 | Sep 27, 2019 |
| NPC2 | 1 | Oct 16, 2017 |
| NPHS1 | 6 | Sep 27, 2019 |
| NR1H4 | 3 | Dec 22, 2015 |
| NR2F1 | 1 | Mar 14, 2019 |
| NRXN1 | 1 | Oct 16, 2017 |
| NSD1 | 6 | Oct 16, 2017 |
| NTRK1 | 2 | Aug 17, 2015 |
| NUBPL | 2 | Oct 16, 2017 |
| OBSL1 | 2 | Nov 14, 2016 |
| OCRL | 1 | Oct 16, 2017 |
| OFD1 | 2 | Mar 14, 2019 |
| OGT | 1 | Mar 14, 2019 |
| OTOF | 1 | Nov 14, 2016 |
| OTUD6B | 4 | Jan 10, 2017 |
| OTX2 | 1 | Oct 16, 2017 |
| P4HTM | 2 | Mar 14, 2019 |
| PACS1 | 1 | Oct 16, 2017 |
| PAFAH1B1 | 3 | Oct 16, 2017 |
| PAH | 22 | Sep 27, 2019 |
| PAPSS2 | 1 | Oct 16, 2017 |
| PCCA | 2 | Sep 27, 2019 |
| PCCB | 6 | Sep 27, 2019 |
| PCDH15 | 2 | Sep 27, 2019 |
| PCDH19 | 2 | Oct 16, 2017 |
| PCNT | 1 | Oct 16, 2017 |
| PDCD10 | 1 | Nov 29, 2018 |
| PDHA1 | 6 | Oct 16, 2017 |
| PDHX | 1 | Oct 16, 2017 |
| PDS5A | 2 | Apr 8, 2018 |
| PEX1 | 28 | Sep 27, 2019 |
| PEX12 | 1 | Oct 16, 2017 |
| PEX16 | 2 | Oct 16, 2017 |
| PEX6 | 1 | Mar 14, 2019 |
| PEX7 | 16 | Sep 27, 2019 |
| PGAP1 | 2 | Mar 14, 2019 |
| PHEX | 1 | Mar 14, 2019 |
| PHF8 | 1 | Nov 14, 2016 |
| PHGDH | 1 | Mar 14, 2019 |
| PHKA1 | 1 | Apr 1, 2019 |
| PHOX2B | 1 | Oct 16, 2017 |
| PIGA | 1 | Oct 16, 2017 |
| PIGB | 1 | Oct 16, 2017 |
| PIK3CA | 1 | Oct 16, 2017 |
| PIK3R1 | 1 | Aug 17, 2015 |
| PKD1L1 | 2 | May 29, 2016 |
| PKHD1 | 81 | Sep 27, 2019 |
| PKP2 | 1 | Oct 16, 2017 |
| PLA2G6 | 13 | Sep 27, 2019 |
| PLOD1 | 4 | Oct 16, 2017 |
| PLP1 | 4 | Oct 16, 2017 |
| PMM2 | 7 | Sep 27, 2019 |
| PNPO | 1 | Mar 14, 2019 |
| PNPT1 | 3 | Oct 16, 2017 |
| POLG | 9 | Sep 27, 2019 |
| POLR1C | 2 | Mar 14, 2019 |
| POLR2F | 1 | Nov 14, 2016 |
| POLR3H | 2 | Dec 16, 2015 |
| POMGNT1 | 3 | Sep 27, 2019 |
| POMT1 | 1 | Oct 16, 2017 |
| PPP2R3A | 1 | Apr 8, 2018 |
| PPT1 | 2 | Sep 27, 2019 |
| PQBP1 | 3 | Oct 16, 2017 |
| PRF1 | 1 | Oct 16, 2017 |
| PRICKLE2 | 2 | Oct 16, 2017 |
| PRICKLE2-AS1 | 1 | Oct 16, 2017 |
| PRKRA | 2 | Mar 14, 2019 |
| PROP1 | 1 | Sep 27, 2019 |
| PRR12 | 3 | Nov 15, 2017 |
| PRRT2 | 1 | Nov 14, 2016 |
| PRX | 1 | Oct 16, 2017 |
| PTCH1 | 2 | Oct 16, 2017 |
| PTEN | 5 | Apr 1, 2019 |
| PTPN11 | 25 | Mar 14, 2019 |
| PTS | 4 | Sep 27, 2019 |
| PUF60 | 1 | Nov 14, 2016 |
| RAB27A | 1 | Mar 14, 2019 |
| RAB3GAP1 | 2 | Oct 16, 2017 |
| RAB3GAP2 | 1 | Mar 14, 2019 |
| RAB9B | 4 | Oct 16, 2017 |
| RAD21 | 2 | Apr 8, 2018 |
| RAD51C | 2 | Aug 31, 2017 |
| RAF1 | 6 | Nov 23, 2018 |
| RAPSN | 4 | Sep 27, 2019 |
| RARB | 1 | Mar 14, 2019 |
| RARS1 | 2 | Mar 14, 2019 |
| RARS2 | 4 | Mar 14, 2019 |
| RB1 | 1 | Nov 14, 2016 |
| RBM10 | 2 | Apr 1, 2019 |
| RECQL4 | 1 | Oct 16, 2017 |
| RIPK4 | 1 | Oct 16, 2017 |
| RIT1 | 2 | Nov 23, 2018 |
| RMND1 | 1 | Oct 16, 2017 |
| ROBO3 | 1 | Oct 16, 2017 |
| RPGR | 1 | Apr 1, 2019 |
| RRM2B | 1 | Oct 16, 2017 |
| RTEL1 | 1 | Sep 27, 2019 |
| RTEL1-TNFRSF6B | 1 | Sep 27, 2019 |
| RTTN | 2 | Oct 16, 2017 |
| RYR1 | 6 | Oct 16, 2017 |
| RYR2 | 1 | Apr 1, 2019 |
| SACS | 4 | Sep 27, 2019 |
| SATB2 | 2 | Apr 1, 2019 |
| SCN1A | 6 | Mar 14, 2019 |
| SCN1A-AS1 | 2 | Oct 16, 2017 |
| SCN2A | 4 | Mar 14, 2019 |
| SCN4A | 4 | Oct 16, 2017 |
| SCN8A | 6 | Mar 14, 2019 |
| SCN9A | 2 | Oct 16, 2017 |
| SEMA3A | 1 | Apr 1, 2019 |
| SERAC1 | 2 | Mar 14, 2019 |
| SERPINA1 | 2 | Nov 14, 2016 |
| SETBP1 | 1 | Mar 14, 2019 |
| SETX | 4 | Oct 16, 2017 |
| SFTA3 | 2 | Mar 14, 2019 |
| SFXN4 | 1 | Mar 14, 2019 |
| SGCB | 1 | Sep 27, 2019 |
| SGSH | 3 | Sep 27, 2019 |
| SHANK3 | 3 | Apr 1, 2019 |
| SHH | 1 | Nov 14, 2016 |
| SHOC2 | 2 | Oct 16, 2017 |
| SHOX | 2 | Nov 14, 2016 |
| SIGMAR1 | 1 | Aug 17, 2015 |
| SIX1 | 1 | Oct 16, 2017 |
| SKI | 1 | Oct 16, 2017 |
| SKIV2L | 1 | Oct 16, 2017 |
| SLC12A3 | 2 | Aug 17, 2015 |
| SLC12A5 | 1 | Mar 14, 2019 |
| SLC12A6 | 2 | Sep 27, 2019 |
| SLC13A5 | 2 | Mar 14, 2019 |
| SLC17A5 | 3 | Sep 27, 2019 |
| SLC19A3 | 2 | Mar 14, 2019 |
| SLC22A5 | 11 | Sep 27, 2019 |
| SLC25A13 | 8 | Sep 27, 2019 |
| SLC25A15 | 2 | Sep 27, 2019 |
| SLC25A38 | 1 | Oct 16, 2017 |
| SLC26A1 | 1 | Nov 14, 2016 |
| SLC26A2 | 3 | Sep 27, 2019 |
| SLC26A4 | 11 | Sep 27, 2019 |
| SLC2A1 | 3 | Mar 14, 2019 |
| SLC2A9 | 1 | Nov 14, 2016 |
| SLC35A2 | 1 | Nov 14, 2016 |
| SLC35A3 | 1 | Sep 27, 2019 |
| SLC45A2 | 1 | Nov 14, 2016 |
| SLC6A1 | 2 | Mar 14, 2019 |
| SLC6A1-AS1 | 1 | Nov 14, 2016 |
| SLC6A8 | 2 | May 10, 2019 |
| SLC7A7 | 2 | Sep 27, 2019 |
| SLC9A3R1 | 1 | Oct 16, 2017 |
| SLX4 | 2 | Oct 16, 2017 |
| SMARCA2 | 2 | Oct 16, 2017 |
| SMARCA4 | 2 | Mar 14, 2019 |
| SMARCB1 | 3 | Mar 14, 2019 |
| SMC1A | 15 | Apr 8, 2018 |
| SMC3 | 4 | Apr 8, 2018 |
| SMPD1 | 39 | Sep 27, 2019 |
| SNHG14 | 120 | Oct 16, 2017 |
| SON | 5 | Aug 1, 2016 |
| SOS1 | 5 | Sep 24, 2014 |
| SOX10 | 1 | Nov 14, 2016 |
| SOX11 | 1 | Nov 14, 2016 |
| SOX5 | 1 | Mar 14, 2019 |
| SOX9 | 1 | Nov 14, 2016 |
| SPAST | 2 | Mar 14, 2019 |
| SPATA22 | 13 | Sep 27, 2019 |
| SPG11 | 3 | Oct 16, 2017 |
| SPRED1 | 1 | Nov 14, 2016 |
| SPTBN1 | 2 | Dec 14, 2020 |
| SPTLC1 | 1 | Aug 17, 2015 |
| SRCAP | 1 | Mar 14, 2019 |
| SRD5A2 | 1 | Apr 1, 2019 |
| SRD5A3 | 1 | Oct 16, 2017 |
| SSR4 | 1 | Oct 16, 2017 |
| STAG1 | 4 | Apr 8, 2018 |
| STAG2 | 6 | Apr 8, 2018 |
| STAMBP | 1 | Oct 16, 2017 |
| STIM1 | 1 | Mar 14, 2019 |
| STS | 1 | Nov 14, 2016 |
| STX16 | 1 | Apr 1, 2019 |
| STXBP1 | 4 | Oct 16, 2017 |
| SUCLG1 | 2 | Oct 16, 2017 |
| SUMF1 | 1 | Oct 16, 2017 |
| SYNGAP1 | 7 | Oct 16, 2017 |
| TAB2 | 3 | Oct 16, 2017 |
| TALDO1 | 1 | Oct 16, 2017 |
| TANGO2 | 4 | Sep 3, 2015 |
| TBC1D24 | 1 | Mar 14, 2019 |
| TBX19 | 1 | Oct 16, 2017 |
| TCF12 | 2 | Nov 14, 2016 |
| TCF4 | 4 | Oct 16, 2017 |
| TCIRG1 | 2 | Oct 16, 2017 |
| TECPR2 | 1 | Nov 14, 2016 |
| TEK | 1 | Oct 16, 2017 |
| TGFB2 | 1 | Nov 14, 2016 |
| TGFBR1 | 1 | Oct 16, 2017 |
| TGFBR2 | 1 | Oct 16, 2017 |
| TGM1 | 1 | Sep 27, 2019 |
| TH | 2 | Sep 27, 2019 |
| THOC6 | 4 | Mar 14, 2019 |
| THRA | 1 | Oct 16, 2017 |
| TJP2 | 1 | Nov 14, 2016 |
| TK2 | 2 | Oct 16, 2017 |
| TLK2 | 1 | Mar 14, 2019 |
| TM4SF20 | 1 | Apr 1, 2019 |
| TMEM67 | 4 | Oct 16, 2017 |
| TMLHE | 1 | Oct 16, 2017 |
| TNRC6B | 2 | Jul 26, 2019 |
| TNXB | 2 | Aug 17, 2015 |
| TPM1 | 2 | Mar 14, 2019 |
| TPM3 | 1 | Oct 16, 2017 |
| TPO | 1 | Nov 14, 2016 |
| TPP1 | 6 | Sep 27, 2019 |
| TRAPPC11 | 1 | Oct 16, 2017 |
| TRDN | 1 | Oct 16, 2017 |
| TREX1 | 4 | Mar 14, 2019 |
| TRMU | 2 | Oct 16, 2017 |
| TRNT1 | 1 | Aug 17, 2015 |
| TRPS1 | 1 | Nov 4, 2016 |
| TRRAP | 1 | Mar 14, 2019 |
| TSC1 | 1 | Oct 16, 2017 |
| TSC2 | 3 | Nov 23, 2018 |
| TSEN54 | 2 | Oct 16, 2017 |
| TSPAN1 | 3 | Sep 27, 2019 |
| TTC37 | 1 | Oct 16, 2017 |
| TTC7A | 1 | Oct 16, 2017 |
| TTN | 9 | Apr 1, 2019 |
| TTN-AS1 | 3 | Oct 16, 2017 |
| TTPA | 1 | Sep 27, 2019 |
| TUBA1A | 3 | Mar 14, 2019 |
| TUBB3 | 1 | Nov 14, 2016 |
| TUBB4A | 3 | Mar 14, 2019 |
| TYR | 3 | Oct 16, 2017 |
| UBE2A | 1 | Apr 1, 2019 |
| UBE3A | 120 | Oct 16, 2017 |
| UBN2 | 1 | Mar 14, 2019 |
| UGT1A | 1 | Sep 27, 2019 |
| UGT1A1 | 1 | Sep 27, 2019 |
| UGT1A10 | 1 | Sep 27, 2019 |
| UGT1A3 | 1 | Sep 27, 2019 |
| UGT1A4 | 1 | Sep 27, 2019 |
| UGT1A5 | 1 | Sep 27, 2019 |
| UGT1A6 | 1 | Sep 27, 2019 |
| UGT1A7 | 1 | Sep 27, 2019 |
| UGT1A8 | 1 | Sep 27, 2019 |
| UGT1A9 | 1 | Sep 27, 2019 |
| USH1C | 4 | Sep 27, 2019 |
| USH2A | 15 | Sep 27, 2019 |
| VPS11 | 1 | Dec 21, 2015 |
| VPS13B | 3 | Oct 16, 2017 |
| VRK1 | 2 | Aug 17, 2015 |
| WAPL | 1 | Apr 8, 2018 |
| WDPCP | 1 | Oct 16, 2017 |
| WDR19 | 3 | Apr 1, 2019 |
| WDR35 | 2 | Oct 16, 2017 |
| WDR45 | 5 | Mar 14, 2019 |
| WFS1 | 4 | Nov 14, 2016 |
| WNT5A | 1 | Oct 16, 2017 |
| WWOX | 7 | Apr 1, 2019 |
| XPA | 1 | Oct 16, 2017 |
| XPC | 1 | Oct 16, 2017 |
| YARS2 | 5 | Mar 14, 2019 |
| ZBTB18 | 1 | Mar 14, 2019 |
| ZDHHC24 | 2 | Oct 16, 2017 |
| ZEB2 | 5 | Mar 14, 2019 |
| ZFYVE26 | 1 | Aug 17, 2015 |
| ZNF335 | 3 | Mar 14, 2019 |
| ZNF423 | 1 | Mar 14, 2019 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 3 Methylcrotonyl-CoA carboxylase 1 deficiency | 11 tests |
| 3 beta-Hydroxysteroid dehydrogenase deficiency | 1 test |
| 3-Methylglutaconic aciduria type 1 | 8 tests |
| 3-Methylglutaconic aciduria type 2 | 7 tests |
| 3-Methylglutaconic aciduria type 3 | 7 tests |
| 3-methylcrotonyl CoA carboxylase 2 deficiency | 9 tests |
| 3-methylglutaconic aciduria type V | 4 tests |
| 46,XX sex reversal, type 1 | 2 tests |
| 46,XY sex reversal, type 1 | 1 test |
| AICAR transformylase/IMP cyclohydrolase deficiency | 1 test |
| ALG1-CDG | 5 tests |
| ALG12-congenital disorder of glycosylation | 5 tests |
| ALG2-CDG | 2 tests |
| ALG3-CDG | 5 tests |
| ALG8-CDG | 4 tests |
| ALG9 congenital disorder of glycosylation | 5 tests |
| Abetalipoproteinaemia | 4 tests |
| Abnormal chromosome morphology | 1 test |
| Acatalasia | 1 test |
| Acetyl-CoA acetyltransferase-2 deficiency | 1 test |
| Acetyl-CoA: carboxylase deficiency | 6 tests |
| Achondrogenesis type II | 6 tests |
| Achondrogenesis, type IB | 3 tests |
| Achondroplasia | 2 tests |
| Achromatopsia 2 | 1 test |
| Achromatopsia 3 | 1 test |
| Achromatopsia 4 | 1 test |
| Acne inversa, familial, 3 | 1 test |
| Acrocephalosyndactyly type I | 1 test |
| Acrodysostosis 1 with or without hormone resistance | 2 tests |
| Acromicric dysplasia | 5 tests |
| Acute alcohol sensitivity | 1 test |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 6 tests |
| Acute lymphoid leukemia | 8 tests |
| Acute myeloid leukemia | 22 tests |
| Acute neuronopathic Gaucher's disease | 6 tests |
| Acute promyelocytic leukemia | 1 test |
| Acyl-CoA dehydrogenase family, member 9, deficiency of | 7 tests |
| Adenine phosphoribosyltransferase deficiency | 3 tests |
| Adenylate kinase deficiency, hemolytic anemia due to | 1 test |
| Adenylosuccinate lyase deficiency | 8 tests |
| Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | 1 test |
| Adrenocortical carcinoma, hereditary | 17 tests |
| Adrenoleukodystrophy | 7 tests |
| Adult hypophosphatasia | 9 tests |
| Age-related macular degeneration 10 | 1 test |
| Age-related macular degeneration 2 | 7 tests |
| Age-related macular degeneration 3 | 1 test |
| Agenesis of the corpus callosum with peripheral neuropathy | 5 tests |
| Alagille syndrome 1 | 3 tests |
| Albinism, ocular, with sensorineural deafness | 4 tests |
| Alkaptonuria | 1 test |
| Alpha-1-antitrypsin deficiency | 5 tests |
| Alpha-B crystallinopathy | 1 test |
| Alpha-methylacyl-CoA racemase deficiency | 4 tests |
| Alport syndrome, autosomal recessive | 4 tests |
| Alstrom syndrome | 1 test |
| Alzheimer disease | 2 tests |
| Alzheimer disease, type 3 | 1 test |
| Aminoglycoside-induced deafness | 5 tests |
| Amish lethal microcephaly | 1 test |
| Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | 1 test |
| Amyotrophic lateral sclerosis 20 | 3 tests |
| Amyotrophic lateral sclerosis type 1 | 1 test |
| Amyotrophic lateral sclerosis type 12 | 3 tests |
| Amyotrophy, hereditary neuralgic | 3 tests |
| Anauxetic dysplasia 1 | 4 tests |
| Androgen resistance syndrome | 4 tests |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 4 tests |
| Anemia, sideroblastic, 1 | 1 test |
| Anemia, sideroblastic, 2, pyridoxine-refractory | 1 test |
| Angelman syndrome | 19 tests |
| Anhaptoglobinemia | 1 test |
| Aniridia 1 | 1 test |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 test |
| Anterior segment dysgenesis 1 | 1 test |
| Anterior segment dysgenesis 3 | 1 test |
| Anterior segment dysgenesis 4 | 1 test |
| Anxiety | 2 tests |
| Aplastic anemia | 5 tests |
| Arginase deficiency | 8 tests |
| Arginine:glycine amidinotransferase deficiency | 9 tests |
| Argininosuccinate lyase deficiency | 8 tests |
| Arrhythmogenic right ventricular dysplasia 8 | 1 test |
| Arteriohepatic dysplasia | 4 tests |
| Arthrogryposis, mental retardation, and seizures | 4 tests |
| Aspartate aminotransferase, serum level of, quantitative trait locus 1 | 1 test |
| Aspartylglucosaminuria | 6 tests |
| Ataxia, spastic, 3, autosomal recessive | 1 test |
| Ataxia, spastic, 4, autosomal recessive | 1 test |
| Ataxia-oculomotor apraxia type 1 | 4 tests |
| Ataxia-telangiectasia syndrome | 12 tests |
| Ataxia-telangiectasia-like disorder | 3 tests |
| Ataxia-telangiectasia-like disorder 1 | 3 tests |
| Atelosteogenesis type II | 2 tests |
| Atrophia bulborum hereditaria | 4 tests |
| Autism, susceptibility to, X-linked 3 | 7 tests |
| Autism, susceptibility to, X-linked 6 | 6 tests |
| Autistic disorder of childhood onset | 2 tests |
| Autoimmune lymphoproliferative syndrome type 2B | 1 test |
| Autosomal dominant nonsyndromic deafness 6 | 1 test |
| Autosomal dominant osteopetrosis 1 | 1 test |
| Autosomal dominant osteopetrosis 2 | 5 tests |
| Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 7 tests |
| Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | 7 tests |
| Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 7 tests |
| Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 | 8 tests |
| Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | 7 tests |
| Autosomal recessive DOPA responsive dystonia | 5 tests |
| Autosomal recessive congenital ichthyosis 1 | 5 tests |
| Autosomal recessive congenital ichthyosis 4A | 1 test |
| Autosomal recessive congenital ichthyosis 4B | 1 test |
| Autosomal recessive cutis laxa type 2B | 1 test |
| Autosomal recessive cutis laxa type 3B | 1 test |
| Autosomal recessive cutis laxa type IA | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 3 tests |
| Autosomal recessive osteopetrosis 1 | 6 tests |
| Autosomal recessive osteopetrosis 2 | 1 test |
| Autosomal recessive osteopetrosis 4 | 4 tests |
| Autosomal recessive osteopetrosis 7 | 2 tests |
| Autosomal recessive polycystic kidney disease | 7 tests |
| Avascular necrosis of the head of femur | 6 tests |
| Avellino corneal dystrophy | 1 test |
| Axenfeld-Rieger syndrome type 1 | 4 tests |
| Axenfeld-Rieger syndrome type 3 | 1 test |
| B4GALT1-CDG | 5 tests |
| BCC1 | 3 tests |
| BH4-deficient hyperphenylalaninemia A | 7 tests |
| Bannayan-Riley-Ruvalcaba syndrome | 7 tests |
| Bardet-Biedl syndrome | 4 tests |
| Bardet-Biedl syndrome 1 | 8 tests |
| Bardet-Biedl syndrome 10 | 6 tests |
| Bardet-Biedl syndrome 12 | 3 tests |
| Bardet-Biedl syndrome 14 | 5 tests |
| Bardet-Biedl syndrome 15 | 3 tests |
| Bardet-Biedl syndrome 2 | 7 tests |
| Bardet-Biedl syndrome 3 | 3 tests |
| Bardet-Biedl syndrome 4 | 3 tests |
| Bardet-Biedl syndrome 5 | 3 tests |
| Bardet-Biedl syndrome 7 | 3 tests |
| Bardet-Biedl syndrome 9 | 3 tests |
| Bare lymphocyte syndrome type 1 | 1 test |
| Basal cell carcinoma, susceptibility to, 7 | 12 tests |
| Becker muscular dystrophy | 8 tests |
| Beckwith-Wiedemann syndrome | 5 tests |
| Benign familial neonatal seizures 1 | 3 tests |
| Benign recurrent intrahepatic cholestasis type 2 | 6 tests |
| Bestrophinopathy, autosomal recessive | 5 tests |
| Beta-D-mannosidosis | 1 test |
| Beta-hydroxyisobutyryl-CoA deacylase deficiency | 1 test |
| Beta-thalassemia, dominant inclusion body type | 2 tests |
| Bietti crystalline corneoretinal dystrophy | 1 test |
| Bifunctional peroxisomal enzyme deficiency | 7 tests |
| Biotinidase deficiency | 12 tests |
| Blepharophimosis, ptosis, and epicanthus inversus | 1 test |
| Bloom syndrome | 11 tests |
| Body mass index quantitative trait locus 12 | 2 tests |
| Body mass index quantitative trait locus 4 | 1 test |
| Bone fragility with contractures, arterial rupture, and deafness | 1 test |
| Bone marrow transplant | 1 test |
| Bone mineral density quantitative trait locus 1 | 1 test |
| Bothnia retinal dystrophy | 6 tests |
| Bradyopsia | 1 test |
| Branchiootic syndrome | 1 test |
| Branchiootorenal Syndrome 1 | 1 test |
| Breast-ovarian cancer, familial 1 | 10 tests |
| Breast-ovarian cancer, familial 2 | 11 tests |
| Breast-ovarian cancer, familial 3 | 4 tests |
| Breast-ovarian cancer, familial 4 | 4 tests |
| Bronchiectasis with or without elevated sweat chloride 1 | 6 tests |
| Bruck syndrome 2 | 2 tests |
| Brunner syndrome | 1 test |
| Budd-Chiari syndrome | 2 tests |
| Bull's eye macular dystrophy | 5 tests |
| Burkitt lymphoma | 1 test |
| CHARGE association | 7 tests |
| COG1 congenital disorder of glycosylation | 5 tests |
| COG7 congenital disorder of glycosylation | 5 tests |
| COVID-19 | 1 test |
| Camptodactyly, tall stature, and hearing loss syndrome (CATSHL syndrome) | 1 test |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 1 test |
| Carcinoid tumor of intestine | 4 tests |
| Carcinoma of cervix | 1 test |
| Carcinoma of colon | 13 tests |
| Carcinoma of pancreas | 17 tests |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | 6 tests |
| Cardiofaciocutaneous syndrome 1 | 4 tests |
| Cardiofaciocutaneous syndrome 3 | 1 test |
| Cardiofaciocutaneous syndrome 4 | 1 test |
| Cardiomyopathy, dilated, 1u | 1 test |
| Carney complex, type 1 | 5 tests |
| Carney-Stratakis syndrome | 5 tests |
| Carnitine acylcarnitine translocase deficiency | 8 tests |
| Carnitine palmitoyltransferase 1A deficiency | 12 tests |
| Carnitine palmitoyltransferase II deficiency, infantile | 13 tests |
| Carnitine palmitoyltransferase II deficiency, lethal neonatal | 11 tests |
| Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced | 11 tests |
| Carotid intimal medial thickness 1 | 1 test |
| Cataract 11 | 4 tests |
| Cataract 16, multiple types | 1 test |
| Cataract 18 | 1 test |
| Cataract 40 | 1 test |
| Cerebral amyloid angiopathy, APP-related | 1 test |
| Cerebral palsy, spastic quadriplegic, 1 | 1 test |
| Ceroid lipofuscinosis neuronal 2 | 6 tests |
| Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 2 tests |
| Charcot-Marie-Tooth disease dominant intermediate d | 1 test |
| Charcot-Marie-Tooth disease type 2D | 1 test |
| Charcot-Marie-Tooth disease type 2I | 1 test |
| Charcot-Marie-Tooth disease type 2J | 1 test |
| Charcot-Marie-Tooth disease, demyelinating, type 1b | 1 test |
| Charcot-Marie-Tooth disease, recessive intermediate B | 6 tests |
| Charcot-Marie-Tooth disease, recessive intermediate d | 3 tests |
| Charcot-Marie-Tooth disease, type 2A1 | 1 test |
| Charcot-Marie-Tooth disease, type 2A2A | 3 tests |
| Charcot-Marie-Tooth disease, type 4k | 1 test |
| Charcot-Marie-Tooth disease, type IA | 1 test |
| Charlevoix-Saguenay spastic ataxia | 5 tests |
| Childhood hypophosphatasia | 7 tests |
| Cholestanol storage disease | 6 tests |
| Cholestasis of pregnancy | 1 test |
| Cholestasis, benign recurrent intrahepatic 1 | 5 tests |
| Cholestasis, intrahepatic, of pregnancy 3 | 4 tests |
| Cholestasis, progressive familial intrahepatic 1 | 1 test |
| Cholesterol monooxygenase (side-chain cleaving) deficiency | 1 test |
| Choroid plexus papilloma | 17 tests |
| Choroidal dystrophy, central areolar 2 | 6 tests |
| Choroideremia | 1 test |
| Christianson syndrome | 1 test |
| Chromosome 5q deletion syndrome | 1 test |
| Chromosome 8, partial trisomy | 1 test |
| Chronic granulomatous disease, X-linked | 1 test |
| Chronic lymphocytic leukemia | 1 test |
| Chronic myelogenous leukemia, BCR-ABL1 positive | 4 tests |
| Ciliary dyskinesia, primary, 14 | 1 test |
| Citrullinemia type I | 9 tests |
| Citrullinemia type II | 10 tests |
| Classic homocystinuria | 11 tests |
| Cleidocranial dysostosis | 3 tests |
| Cobalamin C disease | 12 tests |
| Coenzyme Q10 deficiency, primary 1 | 6 tests |
| Coenzyme Q10 deficiency, primary, 2 | 1 test |
| Coenzyme Q10 deficiency, primary, 3 | 6 tests |
| Coenzyme Q10 deficiency, primary, 4 | 6 tests |
| Coenzyme Q10 deficiency, primary, 5 | 1 test |
| Coenzyme Q10 deficiency, primary, 6 | 1 test |
| Coloboma of optic disc | 2 tests |
| Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | 1 test |
| Combined deficiency of sialidase AND beta galactosidase | 2 tests |
| Combined immunodeficiency, X-linked | 3 tests |
| Combined malonic and methylmalonic aciduria | 6 tests |
| Combined molybdoflavoprotein enzyme deficiency | 9 tests |
| Combined oxidative phosphorylation deficiency 1 | 8 tests |
| Combined oxidative phosphorylation deficiency 10 | 4 tests |
| Combined oxidative phosphorylation deficiency 12 | 3 tests |
| Combined oxidative phosphorylation deficiency 14 | 5 tests |
| Combined oxidative phosphorylation deficiency 15 | 2 tests |
| Combined oxidative phosphorylation deficiency 16 | 4 tests |
| Combined oxidative phosphorylation deficiency 2 | 1 test |
| Combined oxidative phosphorylation deficiency 22 | 4 tests |
| Combined oxidative phosphorylation deficiency 24 | 5 tests |
| Combined oxidative phosphorylation deficiency 25 | 4 tests |
| Combined oxidative phosphorylation deficiency 3 | 6 tests |
| Combined oxidative phosphorylation deficiency 35 | 3 tests |
| Combined oxidative phosphorylation deficiency 4 | 1 test |
| Combined oxidative phosphorylation deficiency 5 | 6 tests |
| Combined oxidative phosphorylation deficiency 6 | 4 tests |
| Combined oxidative phosphorylation deficiency 7 | 5 tests |
| Combined oxidative phosphorylation deficiency 8 | 6 tests |
| Combined oxidative phosphorylation deficiency 9 | 4 tests |
| Combined saposin deficiency | 1 test |
| Conduction disorder of the heart | 1 test |
| Cone dystrophy 3 | 1 test |
| Cone dystrophy 4 | 1 test |
| Cone dystrophy with supernormal rod response | 1 test |
| Cone monochromatism | 1 test |
| Cone-rod dystrophy 1 | 3 tests |
| Cone-rod dystrophy 10 | 1 test |
| Cone-rod dystrophy 12 | 6 tests |
| Cone-rod dystrophy 13 | 7 tests |
| Cone-rod dystrophy 15 | 6 tests |
| Cone-rod dystrophy 16 | 1 test |
| Cone-rod dystrophy 2 | 7 tests |
| Cone-rod dystrophy 3 | 7 tests |
| Cone-rod dystrophy 5 | 1 test |
| Cone-rod dystrophy 6 | 6 tests |
| Cone-rod dystrophy 7 | 1 test |
| Cone-rod dystrophy 9 | 1 test |
| Cone-rod dystrophy, X-linked 1 | 1 test |
| Congenital amegakaryocytic thrombocytopenia | 5 tests |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 6 tests |
| Congenital bile acid synthesis defect 2 | 3 tests |
| Congenital bile acid synthesis defect 4 | 1 test |
| Congenital central hypoventilation | 7 tests |
| Congenital chromosomal disease | 2 tests |
| Congenital disorder of deglycosylation | 3 tests |
| Congenital disorder of glycosylation type 1C | 5 tests |
| Congenital disorder of glycosylation type 1E | 2 tests |
| Congenital disorder of glycosylation type 1M | 5 tests |
| Congenital disorder of glycosylation type 1N | 2 tests |
| Congenital disorder of glycosylation type 1O | 2 tests |
| Congenital disorder of glycosylation type 1P | 3 tests |
| Congenital disorder of glycosylation type 1Q | 2 tests |
| Congenital disorder of glycosylation type 1t | 6 tests |
| Congenital disorder of glycosylation type 2B | 4 tests |
| Congenital disorder of glycosylation type 2F | 5 tests |
| Congenital disorder of glycosylation type 2H | 5 tests |
| Congenital disorder of glycosylation type 2J | 1 test |
| Congenital disorder of glycosylation type 2L | 1 test |
| Congenital disorder of glycosylation type 2i | 3 tests |
| Congenital disorder of glycosylation type 2k | 3 tests |
| Congenital disorder of glycosylation type Ir | 4 tests |
| Congenital disorder of glycosylation, type IIa | 2 tests |
| Congenital disorder of glycosylation, type Ia | 12 tests |
| Congenital hyperammonemia, type I | 7 tests |
| Congenital hypomyelinating neuropathy | 1 test |
| Congenital hypothyroidism | 3 tests |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 9 tests |
| Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 | 4 tests |
| Congenital muscular hypertrophy-cerebral syndrome | 1 test |
| Congenital myasthenic syndrome 13 | 1 test |
| Congenital myasthenic syndrome 4C | 2 tests |
| Congenital stationary night blindness, autosomal dominant 1 | 1 test |
| Congenital stationary night blindness, autosomal dominant 2 | 5 tests |
| Congenital stationary night blindness, autosomal dominant 3 | 1 test |
| Congenital stationary night blindness, type 1A | 1 test |
| Congenital stationary night blindness, type 1B | 1 test |
| Congenital stationary night blindness, type 1C | 1 test |
| Congenital stationary night blindness, type 1D | 1 test |
| Congenital stationary night blindness, type 2A | 1 test |
| Congenital stationary night blindness, type 2B | 7 tests |
| Corneal dystrophy, Fuchs endothelial, 6 | 1 test |
| Corneal dystrophy, lattice type 3A | 1 test |
| Corneal epithelial dystrophy | 1 test |
| Cornelia de Lange syndrome 1 | 1 test |
| Cornelia de Lange syndrome 3 | 1 test |
| Cornelia de Lange syndrome 4 | 1 test |
| Cornelia de Lange syndrome 5 | 1 test |
| Coronary artery disease, autosomal dominant, 1 | 2 tests |
| Corpus callosum agenesis-abnormal genitalia syndrome | 6 tests |
| Cortical dysplasia, complex, with other brain malformations 1 | 1 test |
| Corticosterone methyloxidase type 1 deficiency | 1 test |
| Corticosterone methyloxidase type 2 deficiency | 1 test |
| Costello syndrome | 4 tests |
| Cowden syndrome | 1 test |
| Cowden syndrome 1 | 14 tests |
| Coxa plana | 6 tests |
| Craniodiaphyseal dysplasia, autosomal dominant | 1 test |
| Craniofacial anomalies and anterior segment dysgenesis syndrome | 1 test |
| Craniometaphyseal dysplasia, autosomal dominant | 1 test |
| Creatine transporter deficiency | 6 tests |
| Crigler-Najjar syndrome | 2 tests |
| Crigler-Najjar syndrome type 1 | 3 tests |
| Crigler-Najjar syndrome, type II | 2 tests |
| Crouzon syndrome | 1 test |
| Crouzon syndrome with acanthosis nigricans | 2 tests |
| Cutaneous malignant melanoma 1 | 14 tests |
| Cutaneous malignant melanoma 2 | 5 tests |
| Cutaneous malignant melanoma 3 | 7 tests |
| Cutaneous malignant melanoma 5 | 1 test |
| Cutis laxa with osteodystrophy | 2 tests |
| Cutis laxa, X-linked | 5 tests |
| Cutis laxa, autosomal dominant 1 | 1 test |
| Cutis laxa, autosomal dominant 2 | 1 test |
| Cutis laxa, autosomal recessive IIIA | 1 test |
| Cystic fibrosis | 20 tests |
| Cystinuria | 1 test |
| Czech dysplasia, metatarsal type | 6 tests |
| D-2-hydroxyglutaric aciduria 1 | 1 test |
| D-2-hydroxyglutaric aciduria 2 | 1 test |
| DPAGT1-CDG | 1 test |
| Deafness dystonia syndrome | 6 tests |
| Deafness enamel hypoplasia nail defects | 1 test |
| Deafness, X-linked 2 | 3 tests |
| Deafness, autosomal dominant 10 | 1 test |
| Deafness, autosomal dominant 11 | 4 tests |
| Deafness, autosomal dominant 3a | 5 tests |
| Deafness, autosomal dominant 3b | 1 test |
| Deafness, autosomal dominant 64 | 1 test |
| Deafness, autosomal recessive 12 | 4 tests |
| Deafness, autosomal recessive 18 | 5 tests |
| Deafness, autosomal recessive 1A | 9 tests |
| Deafness, autosomal recessive 1b | 1 test |
| Deafness, autosomal recessive 23 | 3 tests |
| Deafness, autosomal recessive 31 | 6 tests |
| Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | 1 test |
| Deafness, autosomal recessive 74 | 1 test |
| Deafness, autosomal recessive 97 | 2 tests |
| Deafness, congenital heart defects, and posterior embryotoxon | 4 tests |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 8 tests |
| Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 2 tests |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 11 tests |
| Deficiency of acetyl-CoA acetyltransferase | 8 tests |
| Deficiency of alpha-mannosidase | 6 tests |
| Deficiency of butyryl-CoA dehydrogenase | 8 tests |
| Deficiency of cytochrome-b5 reductase | 1 test |
| Deficiency of galactokinase | 6 tests |
| Deficiency of glycerate kinase | 1 test |
| Deficiency of glycerol kinase | 2 tests |
| Deficiency of guanidinoacetate methyltransferase | 9 tests |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 11 tests |
| Deficiency of isobutyryl-CoA dehydrogenase | 6 tests |
| Deficiency of malonyl-CoA decarboxylase | 1 test |
| Deficiency of phosphoserine phosphatase | 1 test |
| Deficiency of pyrroline-5-carboxylate reductase | 6 tests |
| Deficiency of steroid 11-beta-monooxygenase | 4 tests |
| Deficiency of steroid 17-alpha-monooxygenase | 6 tests |
| Dejerine-Sottas disease | 1 test |
| Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | 2 tests |
| Dent disease type 2 | 4 tests |
| Dermatofibrosis lenticularis disseminata | 6 tests |
| Desmoid disease, hereditary | 6 tests |
| Deuteranopia | 1 test |
| DiGeorge sequence | 4 tests |
| Diabetes mellitus type 1 | 1 test |
| Diabetes mellitus, insulin-dependent, 20 | 1 test |
| Diamond-Blackfan anemia | 7 tests |
| Diamond-Blackfan anemia 5 | 1 test |
| Diaphyseal dysplasia | 6 tests |
| Diarrhea 5, with tufting enteropathy, congenital | 4 tests |
| Dihydropteridine reductase deficiency | 2 tests |
| Dihydropyrimidine dehydrogenase deficiency | 5 tests |
| Dilated cardiomyopathy 1GG | 6 tests |
| Dilated cardiomyopathy 1J | 1 test |
| Dilated cardiomyopathy 1X | 1 test |
| Dilated cardiomyopathy 3B | 4 tests |
| Dilated cardiomyopathy with woolly hair and keratoderma | 1 test |
| Dimethylglycine dehydrogenase deficiency | 1 test |
| Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency | 1 test |
| Disseminated atypical mycobacterial infection | 1 test |
| Distal hereditary motor neuronopathy type 5 | 1 test |
| Distal spinal muscular atrophy, X-linked 3 | 5 tests |
| Dominant hereditary optic atrophy | 5 tests |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 test |
| Doyne honeycomb retinal dystrophy | 1 test |
| Drash syndrome | 3 tests |
| Duchenne muscular dystrophy | 10 tests |
| Dyskeratosis congenita, autosomal recessive, 5 | 4 tests |
| Dystonia 16 | 1 test |
| Early infantile epileptic encephalopathy 2 | 7 tests |
| Early infantile epileptic encephalopathy 4 | 4 tests |
| Early infantile epileptic encephalopathy 9 | 3 tests |
| Early myoclonic encephalopathy | 1 test |
| Ectodermal dysplasia and immunodeficiency 1 | 2 tests |
| Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema | 2 tests |
| Ectopia lentis, isolated, autosomal dominant | 5 tests |
| Ehlers-Danlos syndrome dermatosparaxis type | 4 tests |
| Ehlers-Danlos syndrome progeroid type | 7 tests |
| Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | 7 tests |
| Ehlers-Danlos syndrome, classic type | 10 tests |
| Ehlers-Danlos syndrome, hydroxylysine-deficient | 3 tests |
| Ehlers-Danlos syndrome, procollagen proteinase deficient | 7 tests |
| Ehlers-Danlos syndrome, type 3 | 5 tests |
| Ehlers-Danlos syndrome, type 4 | 7 tests |
| Ehlers-Danlos syndrome, type 7A | 1 test |
| Ehlers-Danlos syndrome, type 7B | 1 test |
| Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 4 tests |
| Encephalopathy, acute, infection-induced, 4, susceptibility to | 6 tests |
| Endometrial carcinoma | 16 tests |
| Enhanced s-cone syndrome | 2 tests |
| Epidermal nevus | 1 test |
| Epidermolysis bullosa simplex Dowling-Meara type | 1 test |
| Epidermolysis bullosa simplex with migratory circinate erythema | 1 test |
| Epidermolysis bullosa simplex with mottled pigmentation | 1 test |
| Epidermolysis bullosa simplex, Koebner type | 1 test |
| Epileptic encephalopathy, early infantile, 1 | 6 tests |
| Epiphyseal dysplasia, multiple, with myopia and conductive deafness | 6 tests |
| Erythrocyte lactate transporter defect | 2 tests |
| Erythrocytosis, familial, 2 | 13 tests |
| Ethylmalonic encephalopathy | 9 tests |
| Exercise-induced hyperinsulinism | 3 tests |
| Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis | 1 test |
| Exudative vitreoretinopathy 1 | 4 tests |
| Exudative vitreoretinopathy 4 | 4 tests |
| Exudative vitreoretinopathy 5 | 4 tests |
| Fabry disease | 6 tests |
| Factor V deficiency | 2 tests |
| Familial Mediterranean fever | 1 test |
| Familial adenomatous polyposis 1 | 12 tests |
| Familial atrial myxoma | 2 tests |
| Familial atypical mycobacteriosis, type 1, X-linked | 2 tests |
| Familial calcium pyrophosphate deposition | 1 test |
| Familial cancer of breast | 37 tests |
| Familial colorectal cancer | 5 tests |
| Familial dysautonomia | 10 tests |
| Familial expansile osteolysis | 2 tests |
| Familial exudative vitreoretinopathy, X-linked | 1 test |
| Familial hemophagocytic lymphohistiocytosis 2 | 2 tests |
| Familial hypercholesterolemia | 7 tests |
| Familial hypertriglyceridemia | 1 test |
| Familial hypertrophic cardiomyopathy 1 | 7 tests |
| Familial hypoplastic, glomerulocystic kidney | 1 test |
| Familial infantile myasthenia | 4 tests |
| Familial isolated deficiency of vitamin E | 5 tests |
| Familial medullary thyroid carcinoma | 4 tests |
| Familial partial lipodystrophy 3 | 1 test |
| Familial platelet disorder with associated myeloid malignancy | 4 tests |
| Familial porphyria cutanea tarda | 1 test |
| Familial prostate carcinoma | 1 test |
| Fanconi anemia, complementation group C | 9 tests |
| Fanconi anemia, complementation group D1 | 10 tests |
| Fanconi anemia, complementation group N | 8 tests |
| Fanconi anemia, complementation group O | 1 test |
| Fanconi renotubular syndrome 2 | 7 tests |
| Fasting plasma glucose level quantitative trait locus 5 | 1 test |
| Febrile seizures, familial, 4 | 4 tests |
| Fetal hemoglobin quantitative trait locus 1 | 2 tests |
| Fibrosis of extraocular muscles, congenital, 1 | 1 test |
| Fibrosis of extraocular muscles, congenital, 2 | 1 test |
| Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement | 1 test |
| Finnish congenital nephrotic syndrome | 5 tests |
| Focal dermal hypoplasia | 3 tests |
| Follicular lymphoma 1 | 2 tests |
| Fragile X syndrome | 9 tests |
| Fragile X tremor/ataxia syndrome | 3 tests |
| Frasier syndrome | 3 tests |
| Friedreich ataxia 1 | 4 tests |
| Frontotemporal dementia | 1 test |
| Fructose-biphosphatase deficiency | 7 tests |
| Fukuyama congenital muscular dystrophy | 4 tests |
| Fumarase deficiency | 3 tests |
| GLUT1 deficiency syndrome 1 | 3 tests |
| GLUT1 deficiency syndrome 2 | 3 tests |
| GM1 gangliosidosis type 2 | 3 tests |
| GM1 gangliosidosis type 3 | 3 tests |
| GNE myopathy | 10 tests |
| GRACILE syndrome | 7 tests |
| Galactosylceramide beta-galactosidase deficiency | 7 tests |
| Gamma-aminobutyric acid transaminase deficiency | 1 test |
| Gastric lymphoma | 2 tests |
| Gastrointestinal stromal tumor | 5 tests |
| Gaucher disease, atypical, due to saposin C deficiency | 1 test |
| Gaucher disease, perinatal lethal | 6 tests |
| Gaucher's disease, type 1 | 9 tests |
| Geleophysic dysplasia 2 | 5 tests |
| Gingival fibromatosis 1 | 3 tests |
| Glaucoma 1, open angle, A | 4 tests |
| Glaucoma 3, primary congenital, A | 7 tests |
| Glaucoma, normal tension, susceptibility to | 5 tests |
| Glioma susceptibility 1 | 14 tests |
| Glioma susceptibility 2 | 7 tests |
| Glioma susceptibility 3 | 10 tests |
| Glucose-6-phosphate transport defect | 9 tests |
| Glutaric aciduria, type 1 | 11 tests |
| Glutaryl-CoA oxidase deficiency | 6 tests |
| Glutathione peroxidase deficiency | 1 test |
| Glycine N-methyltransferase deficiency | 3 tests |
| Glycogen storage disease 0, muscle | 6 tests |
| Glycogen storage disease IIIa | 3 tests |
| Glycogen storage disease IIIb | 3 tests |
| Glycogen storage disease IXb | 6 tests |
| Glycogen storage disease IXc | 6 tests |
| Glycogen storage disease IXd | 6 tests |
| Glycogen storage disease XI | 4 tests |
| Glycogen storage disease XV | 3 tests |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 11 tests |
| Glycogen storage disease due to hepatic glycogen synthase deficiency | 7 tests |
| Glycogen storage disease due to muscle beta-enolase deficiency | 6 tests |
| Glycogen storage disease type III | 6 tests |
| Glycogen storage disease type IXa1 | 6 tests |
| Glycogen storage disease type X | 6 tests |
| Glycogen storage disease, type II | 9 tests |
| Glycogen storage disease, type IV | 6 tests |
| Glycogen storage disease, type V | 6 tests |
| Glycogen storage disease, type VI | 6 tests |
| Glycogen storage disease, type VII | 6 tests |
| Gorlin syndrome | 6 tests |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 1 test |
| Grn-related frontotemporal lobar degeneration with Tdp43 inclusions | 1 test |
| Groenouw corneal dystrophy type I | 1 test |
| HNSHA due to aldolase A deficiency | 1 test |
| HSD10 disease | 6 tests |
| Hawkinsinuria | 4 tests |
| Hb SS disease | 8 tests |
| Heimler syndrome 2 | 1 test |
| Heinz body anemia | 2 tests |
| Hematologic neoplasm | 1 test |
| Hemochromatosis type 1 | 4 tests |
| Hemochromatosis type 2A | 3 tests |
| Hemochromatosis type 2B | 3 tests |
| Hemochromatosis type 3 | 3 tests |
| Hemochromatosis type 4 | 3 tests |
| Hemolytic anemia due to hexokinase deficiency | 1 test |
| Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency | 1 test |
| Hepatic adenomas, familial | 1 test |
| Hepatic methionine adenosyltransferase deficiency | 1 test |
| Hepatocellular carcinoma | 19 tests |
| Hereditary coproporphyria | 1 test |
| Hereditary diffuse gastric cancer | 8 tests |
| Hereditary disease | 172 tests |
| Hereditary fructosuria | 10 tests |
| Hereditary hemorrhagic telangiectasia | 2 tests |
| Hereditary hemorrhagic telangiectasia type 1 | 3 tests |
| Hereditary leiomyomatosis and renal cell cancer | 5 tests |
| Hereditary liability to pressure palsies | 1 test |
| Hereditary mixed polyposis syndrome 2 | 4 tests |
| Hereditary motor and sensory neuropathy with optic atrophy | 2 tests |
| Hereditary nonpolyposis colorectal cancer type 4 | 6 tests |
| Hereditary nonpolyposis colorectal cancer type 5 | 6 tests |
| Hereditary nonpolyposis colorectal cancer type 8 | 5 tests |
| Hereditary pancreatitis | 6 tests |
| Hereditary sensory and autonomic neuropathy type IC | 1 test |
| Hereditary spastic paraplegia 13 | 1 test |
| Hereditary spastic paraplegia 2 | 5 tests |
| Hereditary spastic paraplegia 7 | 4 tests |
| Hereditary xanthinuria type 1 | 3 tests |
| Hermansky-Pudlak syndrome 1 | 4 tests |
| Hermansky-Pudlak syndrome 2 | 1 test |
| Hermansky-Pudlak syndrome 3 | 7 tests |
| Hermansky-Pudlak syndrome 4 | 4 tests |
| Hermansky-Pudlak syndrome 5 | 4 tests |
| Hermansky-Pudlak syndrome 6 | 4 tests |
| Hermansky-Pudlak syndrome 7 | 4 tests |
| Hermansky-Pudlak syndrome 8 | 4 tests |
| Herpes simplex encephalitis 2 | 1 test |
| Hidrotic ectodermal dysplasia syndrome | 1 test |
| Hirschsprung disease 1 | 4 tests |
| Holocarboxylase synthetase deficiency | 8 tests |
| Holoprosencephaly 3 | 1 test |
| Holoprosencephaly 7 | 3 tests |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 8 tests |
| Homocystinuria, cblD type, variant 1 | 4 tests |
| Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type | 8 tests |
| Huntington disease | 2 tests |
| Hurler syndrome | 6 tests |
| Hurthle cell carcinoma of thyroid | 5 tests |
| Hydroxyacyl glutathione hydrolase deficiency | 1 test |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 1 test |
| Hyper-IgM syndrome type 5 | 1 test |
| Hyperaldosteronism, familial, type I | 4 tests |
| Hyperammonemia, type III | 7 tests |
| Hypercalcemia, infantile, 1 | 1 test |
| Hypercoagulability | 4 tests |
| Hyperinsulinemic hypoglycemia, familial, 1 | 4 tests |
| Hyperinsulinemic hypoglycemia, familial, 4 | 1 test |
| Hyperinsulinism due to glucokinase deficiency | 1 test |
| Hyperinsulinism-hyperammonemia syndrome | 4 tests |
| Hyperlysinemia | 1 test |
| Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency | 3 tests |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 10 tests |
| Hyperparathyroidism 1 | 3 tests |
| Hyperparathyroidism 2 | 4 tests |
| Hyperphosphatasemia tarda | 1 test |
| Hyperphosphatasemia with bone disease | 2 tests |
| Hyperthyroidism, familial gestational | 2 tests |
| Hyperthyroidism, nonautoimmune | 2 tests |
| Hypertriglyceridemia, transient infantile | 1 test |
| Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | 1 test |
| Hypochondroplasia | 2 tests |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 6 tests |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 6 tests |
| Hypomyelination, global cerebral | 1 test |
| Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 1 test |
| Hypospadias 1, X-linked | 4 tests |
| Hypothyroidism, congenital, nongoitrous, 1 | 2 tests |
| Hystrix-like ichthyosis with deafness | 5 tests |
| Ichthyosis, spastic quadriplegia, and mental retardation | 1 test |
| Idiopathic generalized epilepsy | 1 test |
| Idiopathic hypereosinophilic syndrome | 1 test |
| Idiopathic nephrotic syndrome | 5 tests |
| Imerslund-Gräsbeck syndrome | 1 test |
| Iminoglycinuria | 1 test |
| Immunodeficiency 18 | 1 test |
| Immunodeficiency 23 | 3 tests |
| Immunodeficiency 31C | 1 test |
| Immunodeficiency without anhidrotic ectodermal dysplasia | 2 tests |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | 1 test |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | 3 tests |
| Incontinentia pigmenti syndrome | 5 tests |
| Increased analgesia from kappa-opioid receptor agonist, female-specific | 1 test |
| Infantile GM1 gangliosidosis | 3 tests |
| Infantile Refsum's disease | 1 test |
| Infantile cerebellar-retinal degeneration | 1 test |
| Infantile cortical hyperostosis | 3 tests |
| Infantile hypophosphatasia | 7 tests |
| Infantile nephronophthisis | 3 tests |
| Infantile neuroaxonal dystrophy | 2 tests |
| Infantile nystagmus, X-linked | 1 test |
| Infantile onset spinocerebellar ataxia | 8 tests |
| Insulin-resistant diabetes mellitus AND acanthosis nigricans | 2 tests |
| Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies | 2 tests |
| Intrinsic factor deficiency | 6 tests |
| Iodotyrosine deiodination defect | 3 tests |
| Irido-corneo-trabecular dysgenesis | 1 test |
| Ischemic stroke | 8 tests |
| Isolated sulfite oxidase deficiency | 2 tests |
| Isovaleryl-CoA dehydrogenase deficiency | 11 tests |
| Jackson-Weiss syndrome | 1 test |
| Joubert syndrome | 1 test |
| Joubert syndrome 2 | 7 tests |
| Joubert syndrome 4 | 2 tests |
| Joubert syndrome 5 | 6 tests |
| Joubert syndrome 6 | 1 test |
| Joubert syndrome 9 | 1 test |
| Joubert syndrome with hepatic defect | 3 tests |
| Junctional epidermolysis bullosa gravis of Herlitz | 4 tests |
| Junctional epidermolysis bullosa, non-Herlitz type | 7 tests |
| Juvenile myelomonocytic leukemia | 6 tests |
| Juvenile nephropathic cystinosis | 3 tests |
| Juvenile polyposis syndrome | 9 tests |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 5 tests |
| Juvenile retinoschisis | 4 tests |
| Kahrizi syndrome | 4 tests |
| Kennedy disease | 4 tests |
| Keratitis-ichthyosis-deafness syndrome, autosomal dominant | 5 tests |
| Keratoconus 1 | 4 tests |
| Keratosis palmoplantaris striata II | 1 test |
| Kniest dysplasia | 6 tests |
| Knuckle pads, deafness AND leukonychia syndrome | 5 tests |
| Kostmann syndrome | 1 test |
| Krabbe disease, atypical, due to saposin A deficiency | 1 test |
| Kugelberg-Welander disease | 1 test |
| L-2-hydroxyglutaric aciduria | 1 test |
| LEOPARD syndrome 1 | 6 tests |
| LEOPARD syndrome 2 | 5 tests |
| LEOPARD syndrome 3 | 3 tests |
| Lactate dehydrogenase B deficiency | 1 test |
| Langer-Giedion syndrome | 1 test |
| Langereis blood group | 1 test |
| Late-onset retinal degeneration | 1 test |
| Lattice corneal dystrophy Type I | 1 test |
| Leber congenital amaurosis 1 | 6 tests |
| Leber congenital amaurosis 10 | 6 tests |
| Leber congenital amaurosis 11 | 7 tests |
| Leber congenital amaurosis 12 | 2 tests |
| Leber congenital amaurosis 13 | 7 tests |
| Leber congenital amaurosis 14 | 7 tests |
| Leber congenital amaurosis 15 | 1 test |
| Leber congenital amaurosis 16 | 2 tests |
| Leber congenital amaurosis 2 | 7 tests |
| Leber congenital amaurosis 3 | 2 tests |
| Leber congenital amaurosis 4 | 2 tests |
| Leber congenital amaurosis 5 | 7 tests |
| Leber congenital amaurosis 6 | 6 tests |
| Leber congenital amaurosis 7 | 6 tests |
| Leber congenital amaurosis 8 | 6 tests |
| Leber congenital amaurosis 9 | 1 test |
| Leigh syndrome | 49 tests |
| Leprechaunism syndrome | 1 test |
| Leptin deficiency or dysfunction | 2 tests |
| Leptin receptor deficiency | 2 tests |
| Lesch-Nyhan syndrome | 6 tests |
| Lethal acantholytic epidermolysis bullosa | 1 test |
| Lethal osteosclerotic bone dysplasia | 6 tests |
| Leukemia, acute lymphoblastic, susceptibility to, 3 | 5 tests |
| Leukemia, chronic lymphocytic 1 | 1 test |
| Leukocyte adhesion deficiency type II | 5 tests |
| Leukodystrophy, hypomyelinating, 2 | 3 tests |
| Leukodystrophy, hypomyelinating, 4 | 1 test |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 6 tests |
| Leukoencephalopathy with dystonia and motor neuropathy | 4 tests |
| Leukoencephalopathy with vanishing white matter | 6 tests |
| Levy-Hollister syndrome | 1 test |
| Lewy body dementia | 1 test |
| Li-Fraumeni syndrome 1 | 17 tests |
| Li-Fraumeni syndrome 2 | 3 tests |
| Limb-girdle muscular dystrophy, type 2A | 3 tests |
| Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 4 tests |
| Linear skin defects with multiple congenital anomalies 1 | 1 test |
| Lipodystrophy, congenital generalized, type 4 | 1 test |
| Lissencephaly 2, X-linked | 6 tests |
| Lissencephaly 3 | 1 test |
| Localized epidermolysis bullosa simplex | 1 test |
| Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 15 tests |
| Low phospholipid associated cholelithiasis | 5 tests |
| Lowe syndrome | 5 tests |
| Lung carcinoma | 12 tests |
| Lung oat cell carcinoma | 1 test |
| Lymphatic malformation 3 | 3 tests |
| Lymphedema, primary, with myelodysplasia | 4 tests |
| Lynch syndrome I | 25 tests |
| Lynch syndrome II | 6 tests |
| Lysinuric protein intolerance | 6 tests |
| Lysosomal acid lipase deficiency | 4 tests |
| MASS syndrome | 5 tests |
| MORM syndrome | 1 test |
| MPDU1-CDG | 5 tests |
| MPI-CDG | 10 tests |
| MYH-associated polyposis | 7 tests |
| Macrocephaly/autism syndrome | 13 tests |
| Macular degeneration, X-linked atrophic | 4 tests |
| Macular dystrophy, patterned, 1 | 5 tests |
| Macular dystrophy, vitelliform, adult-onset | 9 tests |
| Malignant tumor of esophagus | 2 tests |
| Malignant tumor of prostate | 18 tests |
| Malignant tumor of testis | 7 tests |
| Maple syrup urine disease | 12 tests |
| Maple syrup urine disease type 1A | 4 tests |
| Maple syrup urine disease type 1B | 4 tests |
| Maple syrup urine disease type 2 | 4 tests |
| Maple syrup urine disease, type 3 | 9 tests |
| Marfan syndrome | 7 tests |
| Mastocytosis | 1 test |
| Maturity-onset diabetes of the young type 6 | 1 test |
| Maturity-onset diabetes of the young, type 2 | 1 test |
| Maturity-onset diabetes of the young, type 3 | 1 test |
| McKusick-Kaufman syndrome | 3 tests |
| Meacham syndrome | 3 tests |
| Meckel syndrome type 1 | 3 tests |
| Meckel syndrome type 6 | 1 test |
| Meckel syndrome type 7 | 1 test |
| Meckel syndrome, type 3 | 1 test |
| Meckel syndrome, type 4 | 6 tests |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 12 tests |
| Medulloblastoma | 14 tests |
| Meesmann corneal dystrophy 1 | 1 test |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 5 tests |
| Melanoma and neural system tumor syndrome | 4 tests |
| Melanoma-pancreatic cancer syndrome | 6 tests |
| Melorheostosis | 5 tests |
| Meningioma, familial | 9 tests |
| Menkes kinky-hair syndrome | 6 tests |
| Mental retardation 17, X-linked | 6 tests |
| Mental retardation 3, X-linked | 3 tests |
| Mental retardation 63, X-linked | 1 test |
| Mental retardation, X-linked, syndromic 10 | 6 tests |
| Mental retardation, X-linked, syndromic 13 | 7 tests |
| Mental retardation, autosomal dominant 5 | 1 test |
| Mental retardation, autosomal recessive 7 | 5 tests |
| Mental retardation, with or without seizures, ARX-related, X-linked | 6 tests |
| Meretoja syndrome | 1 test |
| Mesothelioma, malignant | 3 tests |
| Metachondromatosis | 5 tests |
| Metachromatic leukodystrophy | 6 tests |
| Metaphyseal chondrodysplasia, McKusick type | 5 tests |
| Metaphyseal chondrodysplasia, Schmid type | 3 tests |
| Metaphyseal dysplasia without hypotrichosis | 3 tests |
| Methemoglobinemia type 4 | 1 test |
| Methylcobalamin deficiency type cblG | 8 tests |
| Methylmalonate semialdehyde dehydrogenase deficiency | 1 test |
| Methylmalonic acidemia with homocystinuria cblD | 9 tests |
| Methylmalonic aciduria and homocystinuria type cblF | 9 tests |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 15 tests |
| Methylmalonic aciduria due to transcobalamin receptor defect | 5 tests |
| Methylmalonic aciduria, cblD type, variant 2 | 4 tests |
| Methylmalonyl-CoA epimerase deficiency | 6 tests |
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type | 2 tests |
| Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | 3 tests |
| Microcephaly, normal intelligence and immunodeficiency | 10 tests |
| Microphthalmia, isolated 3 | 1 test |
| Microphthalmia, isolated 5 | 6 tests |
| Microphthalmia, isolated, with coloboma 5 | 1 test |
| Microphthalmia, isolated, with coloboma 7 | 1 test |
| Microvascular complications of diabetes 6 | 1 test |
| Microvascular complications of diabetes 7 | 1 test |
| Miller syndrome | 1 test |
| Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 8 tests |
| Mitochondrial DNA depletion syndrome 11 | 2 tests |
| Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant | 1 test |
| Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 3 tests |
| Mitochondrial DNA depletion syndrome 2 | 7 tests |
| Mitochondrial DNA depletion syndrome 4B, MNGIE type | 9 tests |
| Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 7 tests |
| Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 11 tests |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy | 8 tests |
| Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 7 tests |
| Mitochondrial complex 1 deficiency, nuclear type 10 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 11 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 12 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 14 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 18 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 19 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 2 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 21 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 27 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 32 | 3 tests |
| Mitochondrial complex 1 deficiency, nuclear type 4 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 5 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 7 | 3 tests |
| Mitochondrial complex 1 deficiency, nuclear type 8 | 2 tests |
| Mitochondrial complex 1 deficiency, nuclear type 9 | 2 tests |
| Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 | 1 test |
| Mitochondrial complex I deficiency | 43 tests |
| Mitochondrial complex I deficiency, nuclear type 1 | 2 tests |
| Mitochondrial complex II deficiency | 12 tests |
| Mitochondrial complex III deficiency, nuclear type 1 | 9 tests |
| Mitochondrial complex III deficiency, nuclear type 2 | 1 test |
| Mitochondrial complex III deficiency, nuclear type 5 | 3 tests |
| Mitochondrial complex IV deficiency | 16 tests |
| Mitochondrial diseases | 2 tests |
| Mitochondrial phosphate carrier deficiency | 1 test |
| Mitochondrial trifunctional protein deficiency | 17 tests |
| Molybdenum cofactor deficiency, complementation group A | 1 test |
| Molybdenum cofactor deficiency, complementation group B | 5 tests |
| Mucolipidosis type II | 3 tests |
| Mucolipidosis type IV | 9 tests |
| Mucopolysaccharidosis type 7 | 1 test |
| Mucopolysaccharidosis, MPS-I-H/S | 5 tests |
| Mucopolysaccharidosis, MPS-I-S | 5 tests |
| Mucopolysaccharidosis, MPS-II | 9 tests |
| Mucopolysaccharidosis, MPS-III-A | 6 tests |
| Mucopolysaccharidosis, MPS-III-B | 1 test |
| Mucopolysaccharidosis, MPS-III-C | 1 test |
| Mucopolysaccharidosis, MPS-III-D | 1 test |
| Mucopolysaccharidosis, MPS-IV-A | 4 tests |
| Mucopolysaccharidosis, MPS-IV-B | 1 test |
| Muenke syndrome | 2 tests |
| Muir-Torré syndrome | 6 tests |
| Multiple acyl-CoA dehydrogenase deficiency | 22 tests |
| Multiple endocrine neoplasia, type 1 | 7 tests |
| Multiple endocrine neoplasia, type 2a | 7 tests |
| Multiple endocrine neoplasia, type 2b | 4 tests |
| Multiple fibrofolliculomas | 5 tests |
| Multiple mitochondrial dysfunctions syndrome 1 | 1 test |
| Multiple mitochondrial dysfunctions syndrome 2 | 1 test |
| Multiple myeloma | 3 tests |
| Multiple sulfatase deficiency | 4 tests |
| Muscle eye brain disease | 3 tests |
| Mutilating keratoderma | 5 tests |
| Myasthenia, limb-girdle, familial | 3 tests |
| Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | 3 tests |
| Myasthenic syndrome, congenital, 4a, slow-channel | 3 tests |
| Myasthenic syndrome, congenital, 4b, fast-channel | 2 tests |
| Mycobacterial and viral infections, susceptibility to, autosomal recessive | 1 test |
| Myelodysplastic syndrome | 6 tests |
| Myhre syndrome | 4 tests |
| Myoglobinuria, acute recurrent, autosomal recessive | 7 tests |
| Myopathy with lactic acidosis, hereditary | 6 tests |
| Myopathy, lactic acidosis, and sideroblastic anemia 1 | 6 tests |
| Myopathy, lactic acidosis, and sideroblastic anemia 2 | 6 tests |
| Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | 4 tests |
| Nail-patella syndrome | 7 tests |
| Namaqualand hip dysplasia | 6 tests |
| Nance-Horan syndrome | 1 test |
| Nanophthalmos 2 | 5 tests |
| Nasopharyngeal carcinoma | 17 tests |
| Navajo neurohepatopathy | 6 tests |
| Nemaline myopathy 2 | 4 tests |
| Neonatal intrahepatic cholestasis caused by citrin deficiency | 8 tests |
| Neoplasm of ovary | 4 tests |
| Neoplasm of stomach | 9 tests |
| Nephrolithiasis/osteoporosis, hypophosphatemic, 1 | 6 tests |
| Nephrolithiasis/osteoporosis, hypophosphatemic, 2 | 2 tests |
| Nephronophthisis 1 | 5 tests |
| Nephronophthisis 11 | 2 tests |
| Nephronophthisis 3 | 4 tests |
| Nephronophthisis 4 | 4 tests |
| Nephronophthisis-like nephropathy 1 | 1 test |
| Nephropathic cystinosis | 6 tests |
| Nephrotic syndrome, type 4 | 3 tests |
| Neural tube defects, folate-sensitive | 13 tests |
| Neuroblastoma | 1 test |
| Neuroblastoma 2 | 5 tests |
| Neuroblastoma 3 | 7 tests |
| Neurofibromatosis, type 1 | 1 test |
| Neurofibromatosis, type 2 | 6 tests |
| Neuronal ceroid lipofuscinosis 1 | 5 tests |
| Neuronal ceroid lipofuscinosis 10 | 1 test |
| Neuronal ceroid lipofuscinosis 3 | 6 tests |
| Neuronal ceroid lipofuscinosis 5 | 5 tests |
| Neuronal ceroid lipofuscinosis 6 | 5 tests |
| Neuronal ceroid lipofuscinosis 8 | 3 tests |
| Neurophysiologic defect in schizophrenia | 5 tests |
| Neutral 1 amino acid transport defect | 1 test |
| Neutral lipid storage myopathy | 1 test |
| Newfoundland rod-cone dystrophy | 5 tests |
| Niemann-Pick disease type C1 | 6 tests |
| Niemann-Pick disease, type A | 10 tests |
| Niemann-Pick disease, type B | 1 test |
| Niemann-Pick disease, type C2 | 3 tests |
| Nijmegen breakage syndrome-like disorder | 5 tests |
| Non-Hodgkin lymphoma | 5 tests |
| Non-ketotic hyperglycinemia | 10 tests |
| Noonan syndrome 1 | 7 tests |
| Noonan syndrome 3 | 1 test |
| Noonan syndrome 4 | 4 tests |
| Noonan syndrome 5 | 5 tests |
| Noonan syndrome 6 | 4 tests |
| Noonan syndrome 7 | 3 tests |
| Noonan syndrome 8 | 4 tests |
| Noonan syndrome 9 | 1 test |
| Noonan syndrome-like disorder with loose anagen hair | 4 tests |
| Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | 5 tests |
| Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 | 5 tests |
| Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 6 tests |
| Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3 | 6 tests |
| Nystagmus 6, congenital, X-linked | 7 tests |
| Obesity | 3 tests |
| Obsessive-compulsive disorder | 2 tests |
| Occult macular dystrophy | 1 test |
| Ocular albinism, type I | 6 tests |
| Ocular albinism, type II | 1 test |
| Ocular cystinosis | 3 tests |
| Oculocutaneous albinism type 1 | 4 tests |
| Oculocutaneous albinism type 1B | 4 tests |
| Oculocutaneous albinism type 3 | 4 tests |
| Oculocutaneous albinism type 4 | 4 tests |
| Oculofaciocardiodental syndrome | 1 test |
| Odontohypophosphatasia | 4 tests |
| Oguchi disease 2 | 1 test |
| Oguchi's disease | 5 tests |
| Opioid dependence 1 | 1 test |
| Optic atrophy 3 | 7 tests |
| Optic atrophy 7 | 1 test |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 6 tests |
| Optic nerve hypoplasia, bilateral | 1 test |
| Ornithine aminotransferase deficiency | 4 tests |
| Ornithine carbamoyltransferase deficiency | 8 tests |
| Orthostatic hypotension 1 | 1 test |
| Osteofibrous dysplasia | 2 tests |
| Osteogenesis imperfecta type 12 | 2 tests |
| Osteogenesis imperfecta type 2, thin-bone | 1 test |
| Osteogenesis imperfecta type 5 | 4 tests |
| Osteogenesis imperfecta type 7 | 8 tests |
| Osteogenesis imperfecta type 8 | 2 tests |
| Osteogenesis imperfecta type 9 | 2 tests |
| Osteogenesis imperfecta type I | 7 tests |
| Osteogenesis imperfecta type III | 6 tests |
| Osteogenesis imperfecta with normal sclerae, dominant form | 6 tests |
| Osteogenesis imperfecta, recessive perinatal lethal | 6 tests |
| Osteogenesis imperfecta, type III/IV | 1 test |
| Osteogenesis imperfecta, type VI | 2 tests |
| Osteogenesis imperfecta, type XI | 6 tests |
| Osteopathia striata with cranial sclerosis | 6 tests |
| Osteopetrosis with renal tubular acidosis | 6 tests |
| Osteopetrosis, autosomal recessive 5 | 1 test |
| Osteoporosis with pseudoglioma | 1 test |
| Osteosarcoma | 18 tests |
| Otofaciocervical syndrome 1 | 1 test |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 6 tests |
| Oxoglutaricaciduria | 1 test |
| Paget disease of bone 2, early-onset | 2 tests |
| Palmoplantar keratoderma-deafness syndrome | 5 tests |
| Pancreatic cancer 2 | 10 tests |
| Pancreatic cancer 3 | 8 tests |
| Pancreatic cancer 4 | 9 tests |
| Panic disorder 1 | 1 test |
| Papillary thyroid carcinoma | 1 test |
| Paragangliomas 1 | 4 tests |
| Paragangliomas 2 | 5 tests |
| Paragangliomas 3 | 7 tests |
| Paragangliomas 4 | 8 tests |
| Paragangliomas 5 | 7 tests |
| Parathyroid carcinoma | 2 tests |
| Parkinson disease 13 | 1 test |
| Parkinson disease 6, autosomal recessive early-onset | 1 test |
| Parkinson disease 7 | 1 test |
| Paroxysmal non-kinesigenic dyskinesia | 1 test |
| Partial androgen insensitivity syndrome | 4 tests |
| Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | 4 tests |
| Partington syndrome | 6 tests |
| Pelizaeus-Merzbacher disease | 6 tests |
| Pendred syndrome | 6 tests |
| Permanent neonatal diabetes mellitus | 1 test |
| Peroxisomal acyl-CoA oxidase deficiency | 4 tests |
| Peroxisome biogenesis disorder 10A | 3 tests |
| Peroxisome biogenesis disorder 11A | 5 tests |
| Peroxisome biogenesis disorder 12A | 3 tests |
| Peroxisome biogenesis disorder 13A | 1 test |
| Peroxisome biogenesis disorder 14B | 3 tests |
| Peroxisome biogenesis disorder 1A (Zellweger) | 5 tests |
| Peroxisome biogenesis disorder 2A (Zellweger) | 3 tests |
| Peroxisome biogenesis disorder 3A | 2 tests |
| Peroxisome biogenesis disorder 4a (zellweger) | 2 tests |
| Peroxisome biogenesis disorder 5B | 2 tests |
| Peroxisome biogenesis disorder 5a (zellweger) | 5 tests |
| Peroxisome biogenesis disorder 6A | 3 tests |
| Peroxisome biogenesis disorder 7A | 3 tests |
| Peroxisome biogenesis disorder 8A | 1 test |
| Peroxisome biogenesis disorder 8B | 2 tests |
| Peroxisome biogenesis disorder 9B | 4 tests |
| Perrault syndrome 1 | 1 test |
| Perrault syndrome 2 | 5 tests |
| Persistent fetal circulation syndrome | 8 tests |
| Peutz-Jeghers syndrome | 9 tests |
| Pfeiffer syndrome | 1 test |
| Phenylketonuria | 11 tests |
| Pheochromocytoma | 22 tests |
| Phosphate transport defect | 5 tests |
| Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 3 tests |
| Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | 4 tests |
| Phosphoglycerate dehydrogenase deficiency | 5 tests |
| Phytanic acid storage disease | 4 tests |
| Pick's disease | 1 test |
| Pigmentary pallidal degeneration | 1 test |
| Pigmentary retinal dystrophy | 9 tests |
| Pigmented nodular adrenocortical disease, primary, 1 | 2 tests |
| Pigmented paravenous chorioretinal atrophy | 6 tests |
| Pili torti-deafness syndrome | 5 tests |
| Pilomatrixoma | 7 tests |
| Pituitary hormone deficiency, combined 2 | 5 tests |
| Pituitary hormone deficiency, combined 6 | 2 tests |
| Platyspondylic dysplasia, Torrance type | 6 tests |
| Pneumothorax, primary spontaneous | 2 tests |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | 1 test |
| Polyglandular autoimmune syndrome, type 1 | 3 tests |
| Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 6 tests |
| Pontocerebellar hypoplasia type 6 | 6 tests |
| Posterior column ataxia-retinitis pigmentosa syndrome | 1 test |
| Posterior polymorphous corneal dystrophy 1 | 1 test |
| Posterior polymorphous corneal dystrophy 3 | 1 test |
| Postmenopausal osteoporosis | 8 tests |
| Prader-Willi syndrome | 1 test |
| Pregnancy loss, recurrent, susceptibility to, 2 | 2 tests |
| Premature ovarian failure 1 | 3 tests |
| Premature ovarian failure 3 | 1 test |
| Primary hyperoxaluria, type I | 6 tests |
| Primary hyperoxaluria, type II | 5 tests |
| Primary open angle glaucoma | 2 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 10 tests |
| Progressive familial intrahepatic cholestasis | 5 tests |
| Progressive familial intrahepatic cholestasis 2 | 5 tests |
| Progressive familial intrahepatic cholestasis 3 | 6 tests |
| Progressive sclerosing poliodystrophy | 10 tests |
| Proline dehydrogenase deficiency | 1 test |
| Proopiomelanocortin deficiency | 2 tests |
| Propionic acidemia | 21 tests |
| Proprotein convertase 1/3 deficiency | 2 tests |
| Protan defect | 1 test |
| Prothrombin deficiency, congenital | 2 tests |
| Protoporphyria, erythropoietic, 1 | 1 test |
| Protoporphyria, erythropoietic, X-linked | 1 test |
| Pseudo-Hurler polydystrophy | 1 test |
| Purine-nucleoside phosphorylase deficiency | 4 tests |
| Pyknodysostosis | 9 tests |
| Pyridoxine-dependent epilepsy | 5 tests |
| Pyruvate carboxylase deficiency | 11 tests |
| Pyruvate dehydrogenase E1-alpha deficiency | 5 tests |
| Pyruvate dehydrogenase E1-beta deficiency | 6 tests |
| Pyruvate dehydrogenase E2 deficiency | 7 tests |
| Pyruvate dehydrogenase E3-binding protein deficiency | 6 tests |
| Pyruvate dehydrogenase complex deficiency | 6 tests |
| Pyruvate dehydrogenase lipoic acid synthetase deficiency | 1 test |
| Pyruvate dehydrogenase phosphatase deficiency | 7 tests |
| RAS-associated autoimmune leukoproliferative disorder | 3 tests |
| Recurrent abortion | 2 tests |
| Reis-Bucklers' corneal dystrophy | 1 test |
| Renal carnitine transport defect | 10 tests |
| Renal cell carcinoma, nonpapillary | 13 tests |
| Renal cell carcinoma, papillary, 1 | 5 tests |
| Renal coloboma syndrome | 1 test |
| Renal dysplasia and retinal aplasia | 1 test |
| Renal-hepatic-pancreatic dysplasia 1 | 1 test |
| Reticular dysgenesis | 1 test |
| Reticulate acropigmentation of Kitamura | 1 test |
| Retinal cone dystrophy 4 | 1 test |
| Retinal degeneration, autosomal recessive, clumped pigment type | 4 tests |
| Retinitis pigmentosa | 2 tests |
| Retinitis pigmentosa 1 | 1 test |
| Retinitis pigmentosa 10 | 6 tests |
| Retinitis pigmentosa 11 | 6 tests |
| Retinitis pigmentosa 12 | 7 tests |
| Retinitis pigmentosa 13 | 1 test |
| Retinitis pigmentosa 14 | 2 tests |
| Retinitis pigmentosa 15 | 5 tests |
| Retinitis pigmentosa 17 | 6 tests |
| Retinitis pigmentosa 19 | 7 tests |
| Retinitis pigmentosa 2 | 6 tests |
| Retinitis pigmentosa 20 | 5 tests |
| Retinitis pigmentosa 25 | 6 tests |
| Retinitis pigmentosa 26 | 1 test |
| Retinitis pigmentosa 27 | 5 tests |
| Retinitis pigmentosa 28 | 6 tests |
| Retinitis pigmentosa 30 | 6 tests |
| Retinitis pigmentosa 31 | 6 tests |
| Retinitis pigmentosa 33 | 1 test |
| Retinitis pigmentosa 36 | 1 test |
| Retinitis pigmentosa 37 | 3 tests |
| Retinitis pigmentosa 38 | 6 tests |
| Retinitis pigmentosa 39 | 4 tests |
| Retinitis pigmentosa 4 | 1 test |
| Retinitis pigmentosa 40 | 6 tests |
| Retinitis pigmentosa 41 | 5 tests |
| Retinitis pigmentosa 42 | 1 test |
| Retinitis pigmentosa 43 | 1 test |
| Retinitis pigmentosa 44 | 6 tests |
| Retinitis pigmentosa 45 | 6 tests |
| Retinitis pigmentosa 46 | 1 test |
| Retinitis pigmentosa 47 | 6 tests |
| Retinitis pigmentosa 48 | 5 tests |
| Retinitis pigmentosa 49 | 1 test |
| Retinitis pigmentosa 50 | 5 tests |
| Retinitis pigmentosa 51 | 1 test |
| Retinitis pigmentosa 54 | 6 tests |
| Retinitis pigmentosa 55 | 1 test |
| Retinitis pigmentosa 56 | 6 tests |
| Retinitis pigmentosa 57 | 1 test |
| Retinitis pigmentosa 58 | 1 test |
| Retinitis pigmentosa 59 | 10 tests |
| Retinitis pigmentosa 60 | 1 test |
| Retinitis pigmentosa 61 | 4 tests |
| Retinitis pigmentosa 7 | 6 tests |
| Retinitis pigmentosa 7, digenic | 4 tests |
| Retinitis pigmentosa 9 | 1 test |
| Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness | 4 tests |
| Retinitis punctata albescens | 4 tests |
| Retinoblastoma | 1 test |
| Rett syndrome | 8 tests |
| Rett syndrome, congenital variant | 3 tests |
| Rheumatoid arthritis | 1 test |
| Rhizomelic chondrodysplasia punctata type 1 | 2 tests |
| Rhizomelic chondrodysplasia punctata type 2 | 3 tests |
| Rhizomelic chondrodysplasia punctata type 3 | 4 tests |
| Ring dermoid of cornea | 1 test |
| Rothmund-Thomson syndrome | 3 tests |
| Roussy-Lévy syndrome | 1 test |
| Rubinstein-Taybi syndrome | 6 tests |
| SCHIZENCEPHALY | 1 test |
| SLC35A2-CDG | 3 tests |
| Saccharopinuria | 1 test |
| Salla disease | 5 tests |
| Sandhoff disease | 5 tests |
| Sarcosine dehydrogenase deficiency | 1 test |
| Sarcotubular myopathy | 1 test |
| Schaaf-Yang syndrome | 3 tests |
| Schizophrenia | 3 tests |
| Schizophrenia 4 | 1 test |
| Schwannomatosis 1 | 3 tests |
| Sclerosteosis 1 | 1 test |
| Scoliosis, idiopathic 3 | 6 tests |
| Sengers syndrome | 1 test |
| Senior-Loken syndrome 4 | 1 test |
| Senior-Loken syndrome 5 | 7 tests |
| Senior-Loken syndrome 6 | 6 tests |
| Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | 9 tests |
| Septo-optic dysplasia sequence | 1 test |
| Severe autosomal recessive muscular dystrophy of childhood - North African type | 3 tests |
| Severe combined immunodeficiency due to ADA deficiency | 8 tests |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 6 tests |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 6 tests |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative | 3 tests |
| Severe neonatal-onset encephalopathy with microcephaly | 7 tests |
| Sex-linked hereditary disorder | 1 test |
| Shaheen syndrome | 2 tests |
| Shprintzen syndrome | 2 tests |
| Shprintzen-Goldberg syndrome | 5 tests |
| Shwachman-Diamond syndrome 1 | 5 tests |
| Sialuria | 2 tests |
| Simpson-Golabi-Behmel syndrome type 1 | 5 tests |
| Sjögren-Larsson syndrome | 6 tests |
| Skin fragility-woolly hair-palmoplantar keratoderma syndrome | 1 test |
| Skin/hair/eye pigmentation, variation in, 1 | 6 tests |
| Skin/hair/eye pigmentation, variation in, 11 | 4 tests |
| Skin/hair/eye pigmentation, variation in, 2 | 1 test |
| Skin/hair/eye pigmentation, variation in, 3 | 4 tests |
| Skin/hair/eye pigmentation, variation in, 5 | 4 tests |
| Smith-Lemli-Opitz syndrome | 8 tests |
| Smith-Magenis syndrome | 3 tests |
| Snowflake vitreoretinal degeneration | 2 tests |
| Solid tumor | 2 tests |
| Solitary median maxillary central incisor syndrome | 1 test |
| Sorsby fundus dystrophy | 1 test |
| Sotos syndrome 1 | 1 test |
| Spastic ataxia 5, autosomal recessive | 1 test |
| Spastic paraplegia 31, autosomal dominant | 1 test |
| Spastic paraplegia 44, autosomal recessive | 3 tests |
| Spastic paraplegia 55, autosomal recessive | 1 test |
| Sphingolipid activator protein 1 deficiency | 1 test |
| Spinal muscular atrophy, type II | 1 test |
| Spinocerebellar ataxia type 1 | 1 test |
| Spinocerebellar ataxia type 10 | 1 test |
| Spinocerebellar ataxia type 14 | 6 tests |
| Spinocerebellar ataxia type 28 | 1 test |
| Spondylocheirodysplasia, Ehlers-Danlos syndrome-like | 7 tests |
| Spondyloepiphyseal dysplasia congenita | 6 tests |
| Spondylometaphyseal dysplasia | 1 test |
| Spondyloperipheral dysplasia-short ulna syndrome | 1 test |
| Spongy degeneration of central nervous system | 9 tests |
| Squamous cell carcinoma of the head and neck | 13 tests |
| Stargardt Disease 3 | 1 test |
| Stargardt disease 1 | 7 tests |
| Stargardt disease 4 | 5 tests |
| Steinert myotonic dystrophy syndrome | 2 tests |
| Stickler syndrome type 1 | 1 test |
| Stiff skin syndrome | 5 tests |
| Striatal necrosis, bilateral, and progressive polyneuropathy | 1 test |
| Subacute neuronopathic Gaucher's disease | 6 tests |
| Succinate-semialdehyde dehydrogenase deficiency | 7 tests |
| Succinyl-CoA acetoacetate transferase deficiency | 1 test |
| Supravalvar aortic stenosis | 1 test |
| Sveinsson chorioretinal atrophy | 1 test |
| Syndactyly-telecanthus-anogenital and renal malformations syndrome | 1 test |
| Syndromic X-linked intellectual disability Lubs type | 8 tests |
| Syndromic microphthalmia type 5 | 2 tests |
| Synovial sarcoma | 1 test |
| Tay-Sachs disease | 13 tests |
| Tay-Sachs disease, variant AB | 1 test |
| Tetralogy of Fallot | 5 tests |
| Thanatophoric dysplasia type 1 | 2 tests |
| Thanatophoric dysplasia, type 2 | 2 tests |
| Thiel-Behnke corneal dystrophy | 1 test |
| Thrombocytopenia 2 | 1 test |
| Thrombocytopenia 4 | 1 test |
| Thrombocytosis, benign familial microcytic | 3 tests |
| Thrombophilia due to activated protein C resistance | 2 tests |
| Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant | 6 tests |
| Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive | 6 tests |
| Thyroid hormone metabolism, abnormal | 1 test |
| Transcolabamin II deficiency | 9 tests |
| Transferrin serum level quantitative trait locus 2 | 1 test |
| Triglyceride storage disease with ichthyosis | 1 test |
| Tuberous sclerosis 1 | 1 test |
| Tuberous sclerosis 2 | 1 test |
| Turcot syndrome | 6 tests |
| Type 2 diabetes mellitus | 2 tests |
| Tyrosinase-positive oculocutaneous albinism | 6 tests |
| Tyrosinemia type 3 | 5 tests |
| Tyrosinemia type I | 13 tests |
| Tyrosinemia type II | 7 tests |
| UDPglucose-4-epimerase deficiency | 6 tests |
| Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to | 1 test |
| Urinary bladder cancer | 5 tests |
| Usher Syndrome, Type III | 9 tests |
| Usher syndrome type 1 | 3 tests |
| Usher syndrome type 1D | 13 tests |
| Usher syndrome type 1F | 7 tests |
| Usher syndrome, type 1C | 9 tests |
| Usher syndrome, type 1G | 1 test |
| Usher syndrome, type 2A | 7 tests |
| Usher syndrome, type 2C | 6 tests |
| Usher syndrome, type 2D | 5 tests |
| Usher syndrome, type 3B | 1 test |
| VACTERL association with hydrocephalus | 13 tests |
| Van Buchem disease type 2 | 1 test |
| Variegate porphyria | 2 tests |
| Very long chain acyl-CoA dehydrogenase deficiency | 15 tests |
| Vitamin B12-responsive methylmalonic acidemia type cblA | 11 tests |
| Vitamin B12-responsive methylmalonic acidemia type cblB | 11 tests |
| Vitamin D-dependent rickets, type 1 | 1 test |
| Vitamin D-dependent rickets, type 2 | 2 tests |
| Vitelliform macular dystrophy type 2 | 6 tests |
| Vitreoretinochoroidopathy | 5 tests |
| Von Hippel-Lindau syndrome | 13 tests |
| Waldenstrom macroglobulinemia | 1 test |
| Weill-Marchesani syndrome 2 | 5 tests |
| Werdnig-Hoffmann disease | 9 tests |
| Wilms tumor 1 | 14 tests |
| Wilson disease | 11 tests |
| Wilson-Turner X-linked mental retardation syndrome | 1 test |
| Wiskott-Aldrich syndrome | 2 tests |
| Wolfram syndrome | 1 test |
| Wolfram syndrome 2 | 1 test |
| Wolfram-like syndrome, autosomal dominant | 1 test |
| Worth disease | 1 test |
| Wrinkly skin syndrome | 5 tests |
| X-linked agammaglobulinemia | 1 test |
| X-linked cone-rod dystrophy 3 | 1 test |
| X-linked ichthyosis with steryl-sulfatase deficiency | 1 test |
| X-linked severe combined immunodeficiency | 4 tests |
| X-linked sideroblastic anemia with ataxia | 1 test |
| Zonular pulverulent cataract 3 | 1 test |
| alpha Thalassemia | 6 tests |
| beta Thalassemia | 8 tests |
| mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 4 tests |
| not provided | 9 tests |
| not provided | 1 test |
| not provided | 1 test |
| not provided | 1 test |
| not provided | 1 test |
| not provided | 2 tests |
| not provided | 1 test |
| not provided | 1 test |
| not provided | 1 test |