Search our Test Catalogue

Contact Us

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



Disorder Names

  • D-2-hydroxyglutaric aciduria (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Dandy-Walker malformation (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Danon disease (ACADS, ACTA1, AMPD1, ANO5, ATP2A1, BAG3, BIN1, CAV3, CFL2, CHKB, CNTN1, COL12A1,....)
  • Danon disease (ABCC9, ACTC1, AKAP9, ANK2, ANK3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CASQ....)
  • Darier disease (AQP5, ATP2A2, ATP2C1, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSC3, DSG1, DSP, DST, ....)
  • D-bifunctional protein deficiency (ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CA....)
  • Defects in calcium homeostasis (CASR....)
  • Defects in magnesium homeostasis (CLDN16, CLDN19, CNNM2, EGF, FXYD2, KCNA1, SLC12A3, TRPM6....)
  • Defects in renal phosphate handling (CLCN5, DMP1, FAM20C, FGF23, FGFR1, GALNT3, KL, LMX1B, PHEX, SLC34A1, SLC34A3, TF....)
  • Defects of renal handling of amino acids (SLC1A1, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9....)
  • Dejerine-Sottas disease (AARS, ABCD1, ABHD12, AIFM1, ALDH18A1, AP1S1, ARHGEF10, ATL1, ATP7A, BSCL2, C10or....)
  • Delta-beta thalassemia (ABCB7, ALAD, ALAS2, ANK1, ATRX, CPOX, CYB5A, CYB5R3, CYCS, EPB42, FECH, FTH1, GA....)
  • Delta-thalassemia (ABCB7, ALAD, ALAS2, ANK1, ATRX, CPOX, CYB5A, CYB5R3, CYCS, EPB42, FECH, FTH1, GA....)
  • Dent disease (ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ARSA, CLCN5, ETFA, ETFB, ETFDH, OCRL....)
  • Dermatopathia pigmentosa reticularis (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Desmosterolosis (ABCB11, ABCB4, ABCD3, AKR1D1, AMACR, ATP8B1, BAAT, CYP27A1, CYP7B1, DHCR24, DHCR....)
  • D-glyceric aciduria (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Diamond-Blackfan anemia (ABCB7, ALAD, ALAS2, ANK1, ATRX, CPOX, CYB5A, CYB5R3, CYCS, EPB42, FECH, FTH1, GA....)
  • Dicarboxylic aminoaciduria (SLC1A1, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9....)
  • Dicarboxylic aminoaciduria (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Diffuse mesangial sclerosis (APRT, CC2D2A, CEP290,CLCN5, COL4A3, COL4A4, COQ2, DCDC2, GLIS2, IFT140, IFT43, I....)
  • Dihydrolipoamide dehydrogenase deficiency (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • Dihydropyrimidine dehydrogenase deficiency (ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA....)
  • Dihydropyrimidinuria (ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA....)
  • Dilated cardiomyopathy (ABCC9, ACE, ACTC1, ACTN2, AGT, ANKRD1, BAG3, BMP10, CASQ2, CHRM2, COX15, CRYAB, ....)
  • Dilated cardiomyopathy with woolly hair and keratoderma (ANTXR1, APCDD1, ATP7A, BCS1L, BRAF, CDH3, CDSN, CLDN1, DCAF17, DLX3, DSC3, DSG1,....)
  • Dimethylglycine dehydrogenase deficiency (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Disorders in the metabolism of trace elements and metals (HFE, ABCB6, ATP7A, ATP7B, CLDN16, CLDN19, CNNM2, CP, EGF, FTH1, FXYD2, HAMP, HFE....)
  • Disorders of amino acid and peptide metabolism (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Disorders of carbohydrate metabolism (AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, ....)
  • Disorders of Collagen, Elastin and Dermal Matrix (ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A....)
  • Disorders of creatine metabolism (MT, GATM, SLC6A8....)
  • Disorders of fatty acid, ketone and energy metabolism (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • Disorders of lipid and lipoprotein metabolism (ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, A....)
  • Disorders of neurotransmitters metabolism (ABAT, ALDH5A1, ALDH7A1, ATP7A, DBH, DDC, DHFR, FOLR1, GCH1, GLRA1, GLUL, MAOA, M....)
  • Disorders of porphyrin and heme metabolism (ABCB7, ALAD, ALAS2, ANK1, ATRX, CPOX, CYB5A, CYB5R3, CYCS, EPB42, FECH, FTH1, GA....)
  • Disorders of purines, pyrimidines and nucleotide metabolism (ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA....)
  • Disorders of the metabolism of sterols (ABCB11, ABCB4, ABCD3, AKR1D1, AMACR, ATP8B1, BAAT, CYP27A1, CYP7B1, DHCR24, DHCR....)
  • Disorders of vitamins and co-factor metabolism (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • DNA repair disorders with cutaneous features (BLM, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, GTF2H5, MPLKIP, POLH....)
  • DOOR syndrome (ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EV....)
  • Dopamine beta-hydroxylase deficiency (ABAT, ALDH5A1, ALDH7A1, ATP7A, DBH, DDC, DHFR, FOLR1, GCH1, GLRA1, GLUL, MAOA, M....)
  • Dopamine-responsive dystonia (ACTB, ADCY5, AFG3L2, ARFGEF2, ARSA, ATM, ATP13A2, ATP1A3, ATP7B, AUH, BCAP31, BC....)
  • Duchenne muscular dystrophy (ANO5, ASAH1, ASCC1, ATP7A, B3GNT1, BAG3, BIN1, BSCL2, CAPN3, CAV3, CHKB, CLCN1, ....)
  • Dyschromatosis symmetrica hereditaria (ABCB6, ADAM10, ADAR, AP3B1, BLOC1S6, C10orf11, DKC1, DTNBP1, EDN3, EDNRB, GPR143....)
  • Dysequilibrium syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Dyskeratosis congenita (AIRE, ANTXR1, ARHGAP31, ARID1A, ARID1B, ATP2A2, ATP2C1, CDAN1, CDH3, COL17A1, CO....)
  • Dystonia (ACTB, ADCY5, AFG3L2, ARFGEF2, ARSA, ATM, ATP13A2, ATP1A3, ATP7B, AUH, BCAP31, BC....)
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • De la Chapelle dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Defects in joint formation & synostoses (ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1....)
  • Dentinogenesis imperfecta (ALPL, ANO5, ANTXR2, ATP6V0A2, B4GALT7, BMP1, CALCR, COL1A1, COL1A2, CRTAP, CTC1,....)
  • Denys-Drash syndrome (FH, FLCN, MET, TSC1, TSC2, VHL, WT1....)
  • Desbuquois dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Desmosterolosis (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Diaphanospondylodysostosis (ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, CO....)
  • Diastrophic dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Du Pan syndrome (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Dyggve-Melchior-Clausen disease (ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2....)
  • Dysostosis (ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, CO....)
  • Dyssegmental dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Down's Syndrome (Trisomy 21) (NA....)
  • D2HGDH (D2HGDH....)
  • DAG1 (DAG1....)
  • DAO (DAO....)
  • DAOA (DAOA....)
  • DAPK1 (DAPK1....)
  • DARC (DARC....)
  • DARS2 (DARS2....)
  • DAZ1 (DAZ1....)
  • DAZ2 (DAZ2....)
  • DAZL (DAZL....)
  • DBH (DBH....)
  • DBI (DBI....)
  • DBT (DBT....)
  • DCAF13 (DCAF13....)
  • DCAF17 (DCAF17....)
  • DCC (DCC....)
  • DCDC2 (DCDC2....)
  • DCK (DCK....)
  • DCLK1 (DCLK1....)
  • DCLRE1C (DCLRE1C....)
  • DCN (DCN....)
  • DCP1B (DCP1B....)
  • DCTD (DCTD....)
  • DCTN1 (DCTN1....)
  • DCX (DCX....)
  • DCXR (DCXR....)
  • DDAH1 (DDAH1....)
  • DDAH2 (DDAH2....)
  • DDB2 (DDB2....)
  • DDC (DDC....)
  • DDOST (DDOST....)
  • DDR1 (DDR1....)
  • DDR2 (DDR2....)
  • DDX11 (DDX11....)
  • DDX20 (DDX20....)
  • DDX25 (DDX25....)
  • DDX39B (DDX39B....)
  • DDX3Y (DDX3Y....)
  • DDX5 (DDX5....)
  • DDX53 (DDX53....)
  • DDX58 (DDX58....)
  • DEAF1 (DEAF1....)
  • DEC1 (DEC1....)
  • DECR1 (DECR1....)
  • DEFB1 (DEFB1....)
  • DEFB126 (DEFB126....)
  • DEFB4A (DEFB4A....)
  • DES (DES....)
  • DFNA5 (DFNA5....)
  • DFNB31 (DFNB31....)
  • DFNB59 (DFNB59....)
  • DGAT1 (DGAT1....)
  • DGCR14 (DGCR14....)
  • DGCR2 (DGCR2....)
  • DGCR5 (DGCR5....)
  • DGCR6 (DGCR6....)
  • DGCR8 (DGCR8....)
  • DGKD (DGKD....)
  • DGUOK (DGUOK....)
  • DHCR24 (DHCR24....)
  • DHCR7 (DHCR7....)
  • DHDDS (DHDDS....)
  • DHFR (DHFR....)
  • DHH (DHH....)
  • DHODH (DHODH....)
  • DHRS4L1 (DHRS4L1....)
  • DHX16 (DHX16....)
  • DHX36 (DHX36....)
  • DHX37 (DHX37....)
  • DIABLO (DIABLO....)
  • DIAPH1 (DIAPH1....)
  • DIAPH2 (DIAPH2....)
  • DIAPH3 (DIAPH3....)
  • DICER1 (DICER1....)
  • DIO1 (DIO1....)
  • DIO2 (DIO2....)
  • DIP2A (DIP2A....)
  • DIP2B (DIP2B....)
  • DIP2C (DIP2C....)
  • DIRC2 (DIRC2....)
  • DIS3L2 (DIS3L2....)
  • DISC1 (DISC1....)
  • DISP1 (DISP1....)
  • DKC1 (DKC1....)
  • DKK2 (DKK2....)
  • DKK3 (DKK3....)
  • DLAT (DLAT....)
  • DLD (DLD....)
  • DLG3 (DLG3....)
  • DLG5 (DLG5....)
  • DLGAP2 (DLGAP2....)
  • DLGAP3 (DLGAP3....)
  • DLL1 (DLL1....)
  • DLL3 (DLL3....)
  • DLX3 (DLX3....)
  • DLX5 (DLX5....)
  • DLX6 (DLX6....)
  • DMBT1 (DMBT1....)
  • DMC1 (DMC1....)
  • DMD (DMD....)
  • DMGDH (DMGDH....)
  • DMP1 (DMP1....)
  • DMPK (DMPK....)
  • DMRT1 (DMRT1....)
  • DMXL1 (DMXL1....)
  • DNAAF1 (DNAAF1....)
  • DNAAF2 (DNAAF2....)
  • DNAAF3 (DNAAF3....)
  • DNAH11 (DNAH11....)
  • DNAH5 (DNAH5....)
  • DNAH9 (DNAH9....)
  • DNAI1 (DNAI1....)
  • DNAI2 (DNAI2....)
  • DNAJA4 (DNAJA4....)
  • DNAJB2 (DNAJB2....)
  • DNAJB6 (DNAJB6....)
  • DNAJC19 (DNAJC19....)
  • DNAJC5 (DNAJC5....)
  • DNAJC6 (DNAJC6....)
  • DNAL1 (DNAL1....)
  • DNASE1 (DNASE1....)
  • DNASE1L3 (DNASE1L3....)
  • DNASE2 (DNASE2....)
  • DND1 (DND1....)
  • DNM1 (DNM1....)
  • DNM1L (DNM1L....)
  • DNM2 (DNM2....)
  • DNMT1 (DNMT1....)
  • DNMT3A (DNMT3A....)
  • DNMT3B (DNMT3B....)
  • DNMT3L (DNMT3L....)
  • DOC2A (DOC2A....)
  • DOCK3 (DOCK3....)
  • DOCK4 (DOCK4....)
  • DOCK6 (DOCK6....)
  • DOCK8 (DOCK8....)
  • DOCK9 (DOCK9....)
  • DOK7 (DOK7....)
  • DOLK (DOLK....)
  • DPAGT1 (DPAGT1....)
  • DPM1 (DPM1....)
  • DPM3 (DPM3....)
  • DPP10 (DPP10....)
  • DPP6 (DPP6....)
  • DPY19L2 (DPY19L2....)
  • DPYD (DPYD....)
  • DPYS (DPYS....)
  • DPYSL2 (DPYSL2....)
  • DRD1 (DRD1....)
  • DRD2 (DRD2....)
  • DRD3 (DRD3....)
  • DRD4 (DRD4....)
  • DRD5 (DRD5....)
  • DROSHA (DROSHA....)
  • DRP2 (DRP2....)
  • DSC2 (DSC2....)
  • DSC3 (DSC3....)
  • DSCAM (DSCAM....)
  • DSCR8 (DSCR8....)
  • DSG1 (DSG1....)
  • DSG2 (DSG2....)
  • DSG4 (DSG4....)
  • DSP (DSP....)
  • DSPP (DSPP....)
  • DST (DST....)
  • DTNA (DTNA....)
  • DTNBP1 (DTNBP1....)
  • DUOX2 (DUOX2....)
  • DUOXA2 (DUOXA2....)
  • DUSP23 (DUSP23....)
  • DXO (DXO....)
  • DYM (DYM....)
  • DYNC1H1 (DYNC1H1....)
  • DYNC2H1 (DYNC2H1....)
  • DYRK1A (DYRK1A....)
  • DYSF (DYSF....)
  • DYX1C1 (DYX1C1....)
  • Dyskeratosis congenita, autosomal recessive 2 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Dyskeratosis congenita, X-linked (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Defects in innate immunity (CARD9, CXCR4, FCGR3A, IKBKG, IL17F, IL17RA, IRAK4, MBL2, MCM4, MYD88, NFKBIA, ST....)
  • Disordered steroidogenesis due to cytochrome P450 oxidoreductase (CYP11B1, CYP17A1, CYP19A1, CYP21A2, HSD3B2, NR3C1, POR, STAR....)
  • Disorders with androgen excess (CYP11B1, CYP17A1, CYP19A1, CYP21A2, HSD3B2, NR3C1, POR, STAR....)