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Disorder Names

  • Hailey-Hailey disease (AQP5, ATP2A2, ATP2C1, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSC3, DSG1, DSP, DST, ....)
  • Haim-Munk syndrome (ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EV....)
  • Hair disorders (ANTXR1, APCDD1, ATP7A, BCS1L, BRAF, CDH3, CDSN, CLDN1, DCAF17, DLX3, DSC3, DSG1,....)
  • Hamartoneoplastic syndromes (AKT1, BRAF, CBL, FAS, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NF2, NRAS, PIK3CA, PTEN, ....)
  • HARP syndrome (ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, A....)
  • Hartnup disorder (SLC1A1, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9....)
  • Hay-Wells syndrome (ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EV....)
  • Heimler syndrome (ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EV....)
  • Helsmoortel-van der Aa syndrome (ADNP, ADSL, AFF2, AUTS2, CDKL5, CHD8, DHCR7, DYRK1A, FMR1, FOXP1, GABRB3, GRIA3,....)
  • Hemochromatosis (ABCB7, ALAD, ALAS2, ANK1, ATRX, CPOX, CYB5A, CYB5R3, CYCS, EPB42, FECH, FTH1, GA....)
  • Hemolytic anemia due to G6PD deficiency (AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, ....)
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency (AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, ....)
  • Hereditary folate malabsorption (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • Hereditary Fructose intolerance (AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, ....)
  • Hereditary haemorrhagic telangiectasia (ACVRL1, CCBE1, CCM2, ENG, F12, FLT4, GATA2, GLMN, HRAS, KRIT1, PDCD10, PTEN, PTP....)
  • Hereditary motor and sensory neuropathy (AARS, ABCD1, ABHD12, AIFM1, ALDH18A1, AP1S1, ARHGEF10, ATL1, ATP7A, BSCL2, C10or....)
  • Hermansky-Pudlak syndrome (ABCB6, ADAM10, ADAR, AP3B1, BLOC1S6, C10orf11, DKC1, DTNBP1, EDN3, EDNRB, GPR143....)
  • Hermansky-Pudlak syndrome (AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, C....)
  • Heterotopia, periventricular, Ehlers-Danlos Variant (ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A....)
  • Histidinaemia (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • HMG-CoA lyase deficiency (ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CA....)
  • HMG-CoA synthase-2 deficiency (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • Holocarboxylase synthetase deficiency (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • Holoprosencephaly (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Homocystinuria (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Homocystinuria due to MTHFR deficiency (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • Hunter syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Hutchinson-Gilford progeria (ALDH18A1, ATP6V0A2, ATP7A, BLM, EFEMP2, ELN, FBLN5, GGCX, GORAB, GSN, HRAS, LMNA....)
  • Hyaline fibromatosis syndrome (ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A....)
  • Hydrocephalus (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Hydrolethalus syndrome (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Hydroxykynureninuria (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Hyperalphalipoproteinemia (ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, A....)
  • Hyperammonaemia due to Ornithine transcarbamylase deficiency (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Hypercholanemia (ABCB11, ABCB4, ABCD3, AKR1D1, AMACR, ATP8B1, BAAT, CYP27A1, CYP7B1, DHCR24, DHCR....)
  • Hyperglycinemia, lactic acidosis, and seizures (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • Hyperglycinuria (SLC1A1, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9....)
  • Hyperkalemic periodic paralysis (ANO5, ASAH1, ASCC1, ATP7A, B3GNT1, BAG3, BIN1, BSCL2, CAPN3, CAV3, CHKB, CLCN1, ....)
  • Hypermethioninemia (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (SLC25A12, SLC25A13, SLC25A15, SLC25A20, SLC25A22, SLC25A3, SLC25A38, TIMM8A....)
  • Hyperoxaluria (AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, ....)
  • Hyperoxaluria (AGXT, GRHPR, HOGA1....)
  • Hyperphenylalaninemia (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Hyperphenylalaninemia, BH4-deficient (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • Hyperphosphatasia mental retardation syndrome, Mabry syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Hyperprolinemia (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Hypertrophic cardiomyopathy (ABCC9, ACE, ACTC1, ACTN2, AGT, ANKRD1, BAG3, BMP10, CASQ2, CHRM2, COX15, CRYAB, ....)
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis (AARS, ABCB6, ACO2, AFG3L2, AK2, BTD, C19orf12, CISD2, COX4I2, CPS1, CYCS, CYP11A....)
  • Hyperuricemic nephropathy (ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA....)
  • Hypobetalipoproteinemia (ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, A....)
  • Hypocalcemia (CASR....)
  • Hypomagnesemia (CLDN16, CLDN19, CNNM2, EGF, FXYD2, KCNA1, SLC12A3, TRPM6....)
  • Hypomagnesemia (HFE, ABCB6, ATP7A, ATP7B, CLDN16, CLDN19, CNNM2, CP, EGF, FTH1, FXYD2, HAMP, HFE....)
  • Hypophosphatemia (CLCN5, DMP1, FAM20C, FGF23, FGFR1, GALNT3, KL, LMX1B, PHEX, SLC34A1, SLC34A3, TF....)
  • Hypophosphatemia, urolithiasis (APRT, CC2D2A, CEP290,CLCN5, COL4A3, COL4A4, COQ2, DCDC2, GLIS2, IFT140, IFT43, I....)
  • Hypophosphatemic rickets (CLCN5, DMP1, FAM20C, FGF23, FGFR1, GALNT3, KL, LMX1B, PHEX, SLC34A1, SLC34A3, TF....)
  • Hypotrichosis (ANTXR1, APCDD1, ATP7A, BCS1L, BRAF, CDH3, CDSN, CLDN1, DCAF17, DLX3, DSC3, DSG1,....)
  • Hypouricemia (ABCG2, AHI1, ALDH16A1, ALMS1, ANOS1, BCS1L, C3, CCBE1, CD151, CDC73, CEP41, CFH,....)
  • Haim-Munk syndrome (ANTXR2, BANF1, COL3A1, CTSC, CTSK, DDX58, FLNA, HPGD, IFIH1, IL1RN, LMNA, MAFB, ....)
  • Hajdu-Cheney syndrome (ANTXR2, BANF1, COL3A1, CTSC, CTSK, DDX58, FLNA, HPGD, IFIH1, IL1RN, LMNA, MAFB, ....)
  • Hamamy syndrome (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Hartsfield syndrome (CDH3, DLX5, FBXW4, FGFR1, PORCN, TP63, WNT10B, WNT7A....)
  • Hay-Wells syndrome (CDH3, DLX5, FBXW4, FGFR1, PORCN, TP63, WNT10B, WNT7A....)
  • Hereditary breast-ovarian cancer (HBOC) (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, NF1, PALB2,....)
  • Hereditary diffuse gastric cancer (HDGC) (APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK....)
  • Hereditary Cancer (APC, BMPR1A, BRCA1, BRCA2, MEN1, MLH1, MSH2, MSH6, MUTYH, NF2, PMS2, PTEN, RB1, ....)
  • Hereditary nonpolyposis colorectal cancer (HNPCC) (APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK....)
  • Hereditary nonpolyposis colorectal cancer (HNPCC) (EPCAM, MLH1, MSH2, MSH6, PMS2....)
  • Hereditary Paraganglioma-Pheochromocytoma Syndromes (ATM, AIP, BRCA1, BRCA2, CDC73, CDKN2A, MEN1, PALB2, PTEN, RET, SDHAF2, SDHB, SDH....)
  • Holt-Oram syndrome (ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2....)
  • Hutchinson-Gilford progeria (ANTXR2, BANF1, COL3A1, CTSC, CTSK, DDX58, FLNA, HPGD, IFIH1, IL1RN, LMNA, MAFB, ....)
  • Hyaline fibromatosis syndrome (ANTXR2, BANF1, COL3A1, CTSC, CTSK, DDX58, FLNA, HPGD, IFIH1, IL1RN, LMNA, MAFB, ....)
  • Hydrolethalus syndrome (CC2D2A,CEP290,EVC, EVC2, FAM58A,FBLN1, FGF10, FGFR2, FGFR3, FRAS1, FREM2, GJA1, ....)
  • Hyperparathyroidism-jaw tumor syndrome (CDC73....)
  • Hyperphosphatemic familial tumoral calcinosis (ALPL, ANKH, CASR, CDC73, CLCN5, CYP27B1, CYP2R1, DLX3, DMP1, ENPP1, FAH, FGF23, ....)
  • Hypertrophic osteoarthropathy (ANKH, CHST3, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDX58, HPGD, IL1RN, ....)
  • Hypocalciuric hypercalcemia (ALPL, ANKH, CASR, CDC73, CLCN5, CYP27B1, CYP2R1, DLX3, DMP1, ENPP1, FAH, FGF23, ....)
  • Hypochondroplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Hypoparathyroidism familial isolated (ALPL, ANKH, CASR, CDC73, CLCN5, CYP27B1, CYP2R1, DLX3, DMP1, ENPP1, FAH, FGF23, ....)
  • Hypophosphatasia (ALPL, ANO5, ANTXR2, ATP6V0A2, B4GALT7, BMP1, CALCR, COL1A1, COL1A2, CRTAP, CTC1,....)
  • Hypophosphatemic rickets (ALPL, ANKH, CASR, CDC73, CLCN5, CYP27B1, CYP2R1, DLX3, DMP1, ENPP1, FAH, FGF23, ....)
  • Hypoplastic or aplastic tibia with polydactyly (CC2D2A,CEP290,EVC, EVC2, FAM58A,FBLN1, FGF10, FGFR2, FGFR3, FRAS1, FREM2, GJA1, ....)
  • H19 (H19....)
  • H2BFWT (H2BFWT....)
  • H6PD (H6PD....)
  • HABP2 (HABP2....)
  • HACE1 (HACE1....)
  • HADH (HADH....)
  • HADHA (HADHA....)
  • HADHB (HADHB....)
  • HAL (HAL....)
  • HAMP (HAMP....)
  • HAND1 (HAND1....)
  • HAND2 (HAND2....)
  • HARS (HARS....)
  • HARS2 (HARS2....)
  • HAS1 (HAS1....)
  • HAVCR1 (HAVCR1....)
  • HAX1 (HAX1....)
  • HBA1 (HBA1....)
  • HBA2 (HBA2....)
  • HBB (HBB....)
  • HBD (HBD....)
  • HBE1 (HBE1....)
  • HBEGF (HBEGF....)
  • HBG1 (HBG1....)
  • HBG2 (HBG2....)
  • HBM (HBM....)
  • HBS1L (HBS1L....)
  • HBZ (HBZ....)
  • HCCS (HCCS....)
  • HCK (HCK....)
  • HCLS1 (HCLS1....)
  • HCN1 (HCN1....)
  • HCN2 (HCN2....)
  • HCN4 (HCN4....)
  • HCP5 (HCP5....)
  • HCRT (HCRT....)
  • HCRTR1 (HCRTR1....)
  • HCRTR2 (HCRTR2....)
  • HDAC4 (HDAC4....)
  • HDAC8 (HDAC8....)
  • HDAC9 (HDAC9....)
  • HDC (HDC....)
  • HDLBP (HDLBP....)
  • HDX (HDX....)
  • HEATR2 (HEATR2....)
  • HELQ (HELQ....)
  • HEPACAM (HEPACAM....)
  • HERC2 (HERC2....)
  • HES6 (HES6....)
  • HES7 (HES7....)
  • HESX1 (HESX1....)
  • HEXA (HEXA....)
  • HEXB (HEXB....)
  • HEY1 (HEY1....)
  • HFE (HFE....)
  • HFE2 (HFE2....)
  • HGD (HGD....)
  • HGF (HGF....)
  • HGSNAT (HGSNAT....)
  • HHEX (HHEX....)
  • HHIP (HHIP....)
  • HIBCH (HIBCH....)
  • HIF1A (HIF1A....)
  • HIF1AN (HIF1AN....)
  • HIGD2A (HIGD2A....)
  • HIP1 (HIP1....)
  • HIST1H2AE (HIST1H2AE....)
  • HIST3H3 (HIST3H3....)
  • HK1 (HK1....)
  • HK2 (HK2....)
  • HLA-A (HLA-A....)
  • HLA-B (HLA-B....)
  • HLA-C (HLA-C....)
  • HLA-DMB (HLA-DMB....)
  • HLA-DOA (HLA-DOA....)
  • HLA-DPB1 (HLA-DPB1....)
  • HLA-DQA1 (HLA-DQA1....)
  • HLA-DQB1 (HLA-DQB1....)
  • HLA-DRA (HLA-DRA....)
  • HLA-DRB1 (HLA-DRB1....)
  • HLA-DRB5 (HLA-DRB5....)
  • HLA-E (HLA-E....)
  • HLA-G (HLA-G....)
  • HLCS (HLCS....)
  • HLX (HLX....)
  • HMBS (HMBS....)
  • HMCN1 (HMCN1....)
  • HMGA1 (HMGA1....)
  • HMGA2 (HMGA2....)
  • HMGCL (HMGCL....)
  • HMGCR (HMGCR....)
  • HMGCS2 (HMGCS2....)
  • HMHA1 (HMHA1....)
  • HMOX1 (HMOX1....)
  • HMOX2 (HMOX2....)
  • HMSD (HMSD....)
  • HMX1 (HMX1....)
  • HMX2 (HMX2....)
  • HNF1A (HNF1A....)
  • HNF1B (HNF1B....)
  • HNF4A (HNF4A....)
  • HNMT (HNMT....)
  • HNRNPH3 (HNRNPH3....)
  • HNRNPU (HNRNPU....)
  • HOGA1 (HOGA1....)
  • HOMER2 (HOMER2....)
  • HOXA1 (HOXA1....)
  • HOXA10 (HOXA10....)
  • HOXA11 (HOXA11....)
  • HOXA13 (HOXA13....)
  • HOXA2 (HOXA2....)
  • HOXA4 (HOXA4....)
  • HOXB13 (HOXB13....)
  • HOXB6 (HOXB6....)
  • HOXD10 (HOXD10....)
  • HOXD13 (HOXD13....)
  • HOXD4 (HOXD4....)
  • HP (HP....)
  • HPD (HPD....)
  • HPGD (HPGD....)
  • HPRT1 (HPRT1....)
  • HPS1 (HPS1....)
  • HPS3 (HPS3....)
  • HPS4 (HPS4....)
  • HPS5 (HPS5....)
  • HPS6 (HPS6....)
  • HPSE2 (HPSE2....)
  • HR (HR....)
  • HRAS (HRAS....)
  • HRC (HRC....)
  • HRG (HRG....)
  • HRH2 (HRH2....)
  • HRH3 (HRH3....)
  • HS1BP3 (HS1BP3....)
  • HS6ST1 (HS6ST1....)
  • HSD11B1 (HSD11B1....)
  • HSD11B2 (HSD11B2....)
  • HSD17B1 (HSD17B1....)
  • HSD17B10 (HSD17B10....)
  • HSD17B2 (HSD17B2....)
  • HSD17B3 (HSD17B3....)
  • HSD17B4 (HSD17B4....)
  • HSD3B1 (HSD3B1....)
  • HSD3B2 (HSD3B2....)
  • HSD3B7 (HSD3B7....)
  • HSF4 (HSF4....)
  • HSFY1 (HSFY1....)
  • HSFY2 (HSFY2....)
  • HSP90AA1 (HSP90AA1....)
  • HSP90B1 (HSP90B1....)
  • HSPA1A (HSPA1A....)
  • HSPA1B (HSPA1B....)
  • HSPA1L (HSPA1L....)
  • HSPA5 (HSPA5....)
  • HSPA8 (HSPA8....)
  • HSPA9 (HSPA9....)
  • HSPB1 (HSPB1....)
  • HSPB3 (HSPB3....)
  • HSPB6 (HSPB6....)
  • HSPB7 (HSPB7....)
  • HSPB8 (HSPB8....)
  • HSPD1 (HSPD1....)
  • HSPG2 (HSPG2....)
  • HTN3 (HTN3....)
  • HTR1A (HTR1A....)
  • HTR1B (HTR1B....)
  • HTR2A (HTR2A....)
  • HTR2B (HTR2B....)
  • HTR2C (HTR2C....)
  • HTR3A (HTR3A....)
  • HTR3B (HTR3B....)
  • HTR3C (HTR3C....)
  • HTR3E (HTR3E....)
  • HTR5A (HTR5A....)
  • HTR6 (HTR6....)
  • HTR7 (HTR7....)
  • HTRA1 (HTRA1....)
  • HTRA2 (HTRA2....)
  • HTT (HTT....)
  • HUS1B (HUS1B....)
  • HUWE1 (HUWE1....)
  • HVCN1 (HVCN1....)
  • HYAL1 (HYAL1....)
  • HYDIN (HYDIN....)
  • HYLS1 (HYLS1....)
  • HYMAI (HYMAI....)
  • Hyper-IgD syndrome (ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP1....)
  • Hepatic venoocclusive disease with immunodeficiency (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Hyper-IgE recurrent infection syndrome (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Hyper-IgE recurrent infection syndrome, autosomal recessive (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CF....)
  • Hemophagocytic lymphohistiocytosis, familial, 2 (ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA....)
  • Hemophagocytic lymphohistiocytosis, familial, 3 (ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA....)
  • Hemophagocytic lymphohistiocytosis, familial, 4 (ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA....)
  • Hemophagocytic lymphohistiocytosis, familial, 5 (ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA....)
  • Hermansky-Pudlak syndrome 2 (ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA....)
  • Hermansky-Pudlak syndrome 9 (ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA....)
  • Hemophilia (F8, F9....)
  • Hyperprolactinemia (....)
  • Hypogonadotropic hypogonadism (BMP2, CHD7, DCAF17, FGF8, FGFR1, FSHB, GNRH1, GNRHR, HFE, KAL1, KISS1, LHB, LMNA....)
  • Hypospadias (AR, MAMLD1, MID1, SPECC1L, SRD5A2....)