Search our Test Catalogue

Contact Us

For assistance with
ordering one of our tests
call 1-800-1200-695.



Disorder Names

  • Obesity, hereditary (AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS,....)
  • Occipital horn syndrome (ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A....)
  • Oculocutaneous tyrosinaemia (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Oculodentodigital dysplasia (ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EV....)
  • Odontoonychodermal dysplasia (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Oliver-McFarlane syndrome (ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EV....)
  • Olmsted syndrome (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Oro-facio-digital syndrome (ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EV....)
  • Orotic aciduria (ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA....)
  • Other renal disorders (ABCG2, AHI1, ALDH16A1, ALMS1, ANOS1, BCS1L, C3, CCBE1, CD151, CDC73, CEP41, CFH,....)
  • Occipital horn syndrome (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Oculodentodigital dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Oculodentoosseous dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Omodysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Oro-facio-digital syndrome (CC2D2A,CEP290,EVC, EVC2, FAM58A,FBLN1, FGF10, FGFR2, FGFR3, FRAS1, FREM2, GJA1, ....)
  • Osteoarthritis with mild chondrodysplasia (ANKH, CHST3, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDX58, HPGD, IL1RN, ....)
  • Osteogenesis imperfecta (OI) (ALPL, ANO5, ANTXR2, ATP6V0A2, B4GALT7, BMP1, CALCR, COL1A1, COL1A2, CRTAP, CTC1,....)
  • Osteoglophonic dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Osteolysis related disorders (ANTXR2, BANF1, COL3A1, CTSC, CTSK, DDX58, FLNA, HPGD, IFIH1, IL1RN, LMNA, MAFB, ....)
  • Osteopathia striata with cranial sclerosis (AMER1, CA2, CLCN7, IKBKG, LEMD3, LRP5, MITF, OSTM1, PLEKHM1, SNX10, SQSTM1, TCIR....)
  • Osteopetrosis and related disorders (AMER1, CA2, CLCN7, IKBKG, LEMD3, LRP5, MITF, OSTM1, PLEKHM1, SNX10, SQSTM1, TCIR....)
  • Osteoporosis-pseudoglioma syndrome (ALPL, ANO5, ANTXR2, ATP6V0A2, B4GALT7, BMP1, CALCR, COL1A1, COL1A2, CRTAP, CTC1,....)
  • Otopalatodigital syndrome (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Otospondylomegaepiphyseal dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Ovarian cancer (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, NF1, PALB2,....)
  • Ovarian cancer (BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, STK11, TP53....)
  • Overgrowth syndromes with skeletal involvement (DIS3L2, DNMT3A, EZH2, FBN1, FBN2, FGFR3, GPC3, LRP4, NPR2, NSD1, RNF135, SETD2, ....)
  • Orolaryngeal cancer, multiple  (CDKN2A....)
  • OAS1 (OAS1....)
  • OAS2 (OAS2....)
  • OAT (OAT....)
  • OAZ1 (OAZ1....)
  • OBSCN (OBSCN....)
  • OBSL1 (OBSL1....)
  • OCA2 (OCA2....)
  • OCLN (OCLN....)
  • OCRL (OCRL....)
  • ODC1 (ODC1....)
  • OFD1 (OFD1....)
  • OGG1 (OGG1....)
  • OLFM2 (OLFM2....)
  • OLR1 (OLR1....)
  • OMG (OMG....)
  • OPA1 (OPA1....)
  • OPA3 (OPA3....)
  • OPCML (OPCML....)
  • OPHN1 (OPHN1....)
  • OPN1LW (OPN1LW....)
  • OPN1MW (OPN1MW....)
  • OPN1SW (OPN1SW....)
  • OPN4 (OPN4....)
  • OPRD1 (OPRD1....)
  • OPRK1 (OPRK1....)
  • OPRL1 (OPRL1....)
  • OPRM1 (OPRM1....)
  • OPTC (OPTC....)
  • OPTN (OPTN....)
  • OR13G1 (OR13G1....)
  • OR7D4 (OR7D4....)
  • ORAI1 (ORAI1....)
  • ORC1 (ORC1....)
  • ORC4 (ORC4....)
  • ORC6 (ORC6....)
  • ORMDL3 (ORMDL3....)
  • OSMR (OSMR....)
  • OSR1 (OSR1....)
  • OSTM1 (OSTM1....)
  • OTC (OTC....)
  • OTOA (OTOA....)
  • OTOF (OTOF....)
  • OTOR (OTOR....)
  • OTX2 (OTX2....)
  • OVGP1 (OVGP1....)
  • OXCT1 (OXCT1....)
  • OXTR (OXTR....)
  • Omenn syndrome (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Ovarian dysgenesis (BMP15, C10orf2, FSHR, HARS2, HSD17B4, LARS2, PSMC3IP....)
  • Ovarian dysgenesis (BMP15, C10orf2, FSHR, HARS2, HSD17B4, LARS2, PSMC3IP....)
  • Ovarioleukodystrophy (AARS2, BMP15, DIAPH2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, FIGLA, FMR1....)
  • Osteoporosis (ALPL, ANO5, ANTXR2, ATP6V0A2, B4GALT7, BMP1, CALCR, COL1A1, COL1A2, CRTAP, CTC1,....)