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Disorder Names

Adenosine deaminase deficiency, partial(ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA, MOCOS, NT5C3A, PNP, PRPS1, REN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, TK2, TPMT, TREX1, TYMP, UMOD, UMPS, UPB1, XDH)

Adenylosuccinase deficiency(ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA, MOCOS, NT5C3A, PNP, PRPS1, REN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, TK2, TPMT, TREX1, TYMP, UMOD, UMPS, UPB1, XDH)

Adermatoglyphia(ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, ECM1, EFEMP2, ELN, ERCC4, FBLN5, FBN1, FKBP14, FLNA, GGCX, GORAB, GSN, HPGD, HRAS, LMNA, LTBP4, MMP14, PEPD, PLOD1, PYCR1, RIN2, SLC2A10, SLC39A13, SLCO2A1, SMARCAD1, TALDO1, TNXB, WRN, ZMPSTE24)

Adipose tissue disorders(AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS, INPP5E, LEP, LEPR, LIPE, LMNA, MC4R, NTRK2, PCNT, PCSK1, PEPD, PHF6, PIK3R1, PLIN1, POMC, POU1F1, PPARG, PRKAR1A, PSMB8, PTRF, RAB23, RPS6KA3, SERPINA1, SIM1, TBX3, VPS13B, ZMPSTE24)

Adrenal hyperplasia(ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, BSCL2, CAV1, CETP, CIDEC, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP24A1, CYP27B1, DECR1, DGAT1, EPHX2, GPD1, GPIHBP1, HSD3B2, JAG1, LCAT, LDLR, LDLRAP1, LIPC, LIPE, LIPI, LMF1, LMNA, LPL, MTTP, NOTCH2, PANK2, PCSK9, PLIN1, PPARG, PSMB8, PTRF, SAR1B, SMPD1, SPTLC1, SPTLC2, USF1)

ADULT syndrome (Acro-dermato-ungual-lacrimaltooth syndrome)(ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2, FBXW4, FGF10, FGFR1, FGFR2, FGFR3, FLNA, FLNB, GDF5, GLE1, GSC, HDAC8, KDM6A, KMT2D, LMBR1, LRP4, MYH3, NIPBL, NSDHL, PAX3, PITX1, POP1, PTH1R, RAD21, RBM8A, RECQL4, ROR2, SALL1, SALL4, SF3B4, SHOX, SLC26A2, SMC1A, SMC3, SMOC1, TBL1XR1, TBX15, TBX3, TBX5, TNNI2, TNNT3, TP63, TPM2, TRPV4, WDR19, WNT10B, WNT3, WNT5A, WNT7A, ZIC3)

ADULT syndrome (Acro-dermato-ungual-lacrimaltooth syndrome)(AIRE, ANTXR1, ARHGAP31, ARID1A, ARID1B, ATP2A2, ATP2C1, CDAN1, CDH3, COL17A1, COL7A1, CTC1, CTSC, DKC1, DLX3, DOCK6, DSP, DST, EDA, EDAR, ERCC2, ERCC3, EVC, EVC2, EXT1, EZH2, FERMT1, FIG4, FOXN1, FZD6, GJA1, GJB2, GJB6, GLI3, GTF2H5, IFT122, IFT43, IKBKG, IRF6, ITGB4, KRT14, KRT16, KRT17, KRT5, KRT6A, KRT6B, KRT6C, KRT81, KRT83, KRT85, KRT86, LAMA3, LAMB3, LAMC2, LMX1B, LRP4, MBTPS2, MSX1, NHP2, NLRP1, NOP10, NOTCH1, PIGO, PKP1, PLCD1, PLEC, PORCN, PVRL1, RECQL4, RIPK4, ROR2, RSPO4, SETBP1, SMARCA2, SMARCA4, SMARCB1, SOST, STAT1, TBC1D24, TBX3, TERC, TERT, TINF2, TP63, TRPS1, TRPV3, USB1, WDR19, WNT10A, WRAP53)

Agenesis of the corpus callosum(ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6V0A2, B3GNT1, B4GAT1, B9D1, B9D2, CASK, CC2D2A, CCDC22, CCDC88C, CDON, CEP290, CEP41, COL4A1, COL4A2, CRADD, CUL4B, DAG1, DCX, DHFR, DISP1, DKC1, DLL1, DYNC1H1, EBP, EMX2, ERCC1, ERCC6, EXOSC3, FGF8, FGFR1, FGFR3, FIG4, FKRP, FKTN, FLNA, FLVCR2, FTO, GLI2, GLI3, GPHN, GPSM2, GPX4, HCCS, HEPACAM, HESX1, HYLS1, IGBP1, IL6, INPP5E, ISPD, ITPR1, KIAA1279, KIF1BP, KIF7, L1CAM, LAMA1, LAMB1, LAMC3, LARGE, MED12, MID1, MKS1, MLC1, MOCS1, MOCS2, MPDZ, MRPS16, MSX2, NDE1, NEDD4L, NFIA, NPHP1, NPHP3, OCLN, OFD1, OPHN1, OTX2, PAFAH1B1, PAX6, PEX13, PHGDH, PIEZO2, PIGA, PIK3CA, PIK3R2, PLG, PMM2, POMGNT1, POMGNT2, POMT1, POMT2, PQBP1, PRRX1, PTCH1, RAB18, RAB3GAP1, RAB3GAP2, RAI1, RARS2, RBM10, RBM8A, RELN, RNF113A, RNU4ATAC, ROGDI, RPGRIP1L, SEPSECS, SHH, SIX3, SLC12A6, SLC25A19, SMARCE1, SNAP29, SOX2, SPECC1L, SRD5A3, SRPX2, TAF1, TCTN1, TCTN2, TDGF1, TERT, TGIF1, TINF2, TMEM138, TMEM216, TMEM237, TMEM67, TRIM37, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBGCP6, USP9X, VLDLR, VPS13B, VRK1, YWHAE, ZIC1, ZIC3)

Aicardi-goutieres syndrome(ABCD4, ACTB, ADAR, AIMP1, AKT3, ALG12, ALG3, AP3B1, AP4E1, AP4M1, ARFGEF2, ARG1, ARID1A, ARID1B, ASNS, ASPM, ATP1A3, ATP6V0A2, ATR, ATRX, AUTS2, BCAP31, BCL11A, BCOR, BRAT1, BUB1B, CASK, CDC6, CDK5RAP2, CDKL5, CDT1, CENPJ, CEP135, CEP152, CEP63, COG7, CTNNB1, CTSD, CYB5R3, DEAF1, DHCR24, DHCR7, DIAPH1, DLD, DNM1L, DOCK6, DPM1, DPP6, DPYD, DYNC1H1, DYRK1A, EFTUD2, EMG1, EP300, ERCC1, ERCC2, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, EXOSC3, FKTN, FREM1, GLI2, GLYCTK, GNPAT, IER3IP1, IFIH1, IGF1R, IQSEC2, KARS, KAT6B, KDM5C, KIAA1279, KIF11, KMT2D, KNL1, LIG4, LINS1, LMBRD1, MBTPS2, MCM4, MCPH1, MECP2, MED17, MFSD2A, MID1, MMACHC, MMADHC, MOCS2, MRE11, MRPS22, MSMO1, MTHFR, MTR, MTRR, NBN, NDE1, NHEJ1, NIPBL, NR2E1, NSDHL, NSUN2, OCLN, ORC1, ORC4, ORC6, PAFAH1B1, PAH, PAK3, PAX6, PCDH15, PCNT, PDHA1, PDX1, PHF6, PHGDH, PIEZO2, PNKP, PNPO, POMGNT1, POMT1, POMT2, PQBP1, PTCH1, PTPRT, PUS1, RAB18, RAB3GAP1, RAB3GAP2, RAD21, RARS2, RBBP8, RNASEH2A, RNASEH2B, RNASEH2C, RNU4ATAC, RPL10, RPS6KA3, SAMHD1, SEPSECS, SHH, SIX3, SLC16A2, SLC25A19, SLC2A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SNX3, SPR, STIL, SYNGAP1, TAF2, TCF4, TMEM165, TRAPPC9, TREX1, TSEN54, TUBA1A, TUBB2B, TUBB3, TUBGCP4, TUBGCP6, UBE3A, VPS13B, VRK1, WDR62, WHSC1, WWOX, XPA, XRCC4, ZBTB16, ZEB2, ZNF335)

Aicardi-Goutieres syndrome(ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA, MOCOS, NT5C3A, PNP, PRPS1, REN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, TK2, TPMT, TREX1, TYMP, UMOD, UMPS, UPB1, XDH)

Aicardi-Goutières Syndrome(AARS2, ABCD1, ACOX1, ADAR, AIMP1, APP, ARSA, ASPA, CLCN2, COX10, COX15, CSF1R, CTC1, CYP27A1, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC8, FA2H, FAM126A, FOLR1, FOXRED1, GALC, GFAP, HEPACAM, HSD17B4, HSPD1, HTRA1, IFIH1, LAMB1, LMNB1, MLC1, MPV17, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NOTCH3, NUBPL, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLP1, POLR1C, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SDHA, SLC16A2, SOX10, SUMF1, SURF1, TREM2, TREX1, TYMP, TYROBP)

AICA-ribosiduria due to ATIC deficiency(ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA, MOCOS, NT5C3A, PNP, PRPS1, REN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, TK2, TPMT, TREX1, TYMP, UMOD, UMPS, UPB1, XDH)

Alagille syndrome(ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, BSCL2, CAV1, CETP, CIDEC, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP24A1, CYP27B1, DECR1, DGAT1, EPHX2, GPD1, GPIHBP1, HSD3B2, JAG1, LCAT, LDLR, LDLRAP1, LIPC, LIPE, LIPI, LMF1, LMNA, LPL, MTTP, NOTCH2, PANK2, PCSK9, PLIN1, PPARG, PSMB8, PTRF, SAR1B, SMPD1, SPTLC1, SPTLC2, USF1)

Albinism, oculocutaneous(ABCB6, ADAM10, ADAR, AP3B1, BLOC1S6, C10orf11, DKC1, DTNBP1, EDN3, EDNRB, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, IKBKG, KIT, KITLG, KRT14, KRT5, LYST, MITF, MLPH, MYO5A, NHP2, NLRP1, NOP10, OCA2, PAX3, RAB27A, SLC24A5, SLC45A2, SNAI2, SOX10, STK11, TERT, TINF2, TYR, TYRP1, WRAP53)

Albright hereditary osteodystrophy(AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS, INPP5E, LEP, LEPR, LIPE, LMNA, MC4R, NTRK2, PCNT, PCSK1, PEPD, PHF6, PIK3R1, PLIN1, POMC, POU1F1, PPARG, PRKAR1A, PSMB8, PTRF, RAB23, RPS6KA3, SERPINA1, SIM1, TBX3, VPS13B, ZMPSTE24)