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Disorder Names

  • Lacrimo-auriculo-dento-digital syndrome (ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EV....)
  • Lactate dehydrogenase-B deficiency (AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, ....)
  • Lacticacidemia due to PDX1 deficiency (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • Laryngoonychocutaneous syndrome (AIRE, ANTXR1, ARHGAP31, ARID1A, ARID1B, ATP2A2, ATP2C1, CDAN1, CDH3, COL17A1, CO....)
  • Lathosterolosis (ABCB11, ABCB4, ABCD3, AKR1D1, AMACR, ATP8B1, BAAT, CYP27A1, CYP7B1, DHCR24, DHCR....)
  • Leber congenital amaurosis (AIPL1, ALMS1, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT....)
  • Left ventricular non-compaction cardiomyopathy (ABCC9, ACE, ACTC1, ACTN2, AGT, ANKRD1, BAG3, BMP10, CASQ2, CHRM2, COX15, CRYAB, ....)
  • Legius syndrome (AKT1, BRAF, CBL, FAS, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NF2, NRAS, PIK3CA, PTEN, ....)
  • Leigh syndrome (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • Lennox-Gastaut syndrome (AARS, ACTB, ACY1, ADGRV1, ADRA2B, ADSL, AFG3L2, AGTR2, AKT3, ALDH7A1, ALG13, AMT....)
  • Lesch-Nyhan syndrome (AGL, ALDOB, ATP7B, COX10, COX6B1, CTNS, EYA1, FAH, FASTKD2, G6PC, GALT, GLA, HPR....)
  • Lesch-Nyhan syndrome (ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA....)
  • Leukodystrophies (AARS2, ABCD1, ACOX1, ADAR, AIMP1, APP, ARSA, ASPA, CLCN2, COX10, COX15, CSF1R, C....)
  • Lhermitte-Duclos syndrome (AKT1, BRAF, CBL, FAS, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NF2, NRAS, PIK3CA, PTEN, ....)
  • Liddle syndrome (CUL3, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4....)
  • Limb-girdle muscular dystrophy (ANO5, ASAH1, ASCC1, ATP7A, B3GNT1, BAG3, BIN1, BSCL2, CAPN3, CAV3, CHKB, CLCN1, ....)
  • Limb-mammary syndrome (ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EV....)
  • Linear skin defects with multiple congenital anomalies 1 (ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EV....)
  • Lipase deficiency, combined (ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, A....)
  • Lipodystrophy (ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, A....)
  • Lipoprotein lipase deficiency (ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, A....)
  • Lissencephaly (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Long QT syndrome (ABCC9, ACTC1, AKAP9, ANK2, ANK3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CASQ....)
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CA....)
  • Lowe syndrome (ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ARSA, CLCN5, ETFA, ETFB, ETFDH, OCRL....)
  • Lowe syndrome (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Lujan-Fryns syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Lysinuric protein intolerance (SLC1A1, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9....)
  • Lysinuric protein intolerance (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Lacrimo-auriculo-dento-digital syndrome (CC2D2A,CEP290,EVC, EVC2, FAM58A,FBLN1, FGF10, FGFR2, FGFR3, FRAS1, FREM2, GJA1, ....)
  • Langer mesomelic dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Larsen syndrome (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Laurin-Sandrow syndrome (CC2D2A,CEP290,EVC, EVC2, FAM58A,FBLN1, FGF10, FGFR2, FGFR3, FRAS1, FREM2, GJA1, ....)
  • Legg-Calve-Perthes Disease (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Leri-Weill dyschondrosteosis (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Lethal congenital contractural syndrome (ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1....)
  • Li-Fraumeni syndrome (LFS) (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, NF1, PALB2,....)
  • Liebenberg syndrome (ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1....)
  • Limb hypoplasia-reduction defects (ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2....)
  • Limb-mammary syndrome (CDH3, DLX5, FBXW4, FGFR1, PORCN, TP63, WNT10B, WNT7A....)
  • Loeys-Dietz Syndrome (DIS3L2, DNMT3A, EZH2, FBN1, FBN2, FGFR3, GPC3, LRP4, NPR2, NSD1, RNF135, SETD2, ....)
  • Luscan-Lumish syndrome (DIS3L2, DNMT3A, EZH2, FBN1, FBN2, FGFR3, GPC3, LRP4, NPR2, NSD1, RNF135, SETD2, ....)
  • Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2....)
  • L1CAM (L1CAM....)
  • L2HGDH (L2HGDH....)
  • L3MBTL1 (L3MBTL1....)
  • LAMA1 (LAMA1....)
  • LAMA2 (LAMA2....)
  • LAMA3 (LAMA3....)
  • LAMA4 (LAMA4....)
  • LAMA5 (LAMA5....)
  • LAMB1 (LAMB1....)
  • LAMB2 (LAMB2....)
  • LAMB3 (LAMB3....)
  • LAMC1 (LAMC1....)
  • LAMC2 (LAMC2....)
  • LAMC3 (LAMC3....)
  • LAMP2 (LAMP2....)
  • LAMTOR2 (LAMTOR2....)
  • LARGE (LARGE....)
  • LARS2 (LARS2....)
  • LBP (LBP....)
  • LBR (LBR....)
  • LCA5 (LCA5....)
  • LCAT (LCAT....)
  • LCE3B (LCE3B....)
  • LCE3C (LCE3C....)
  • LCE5A (LCE5A....)
  • LCN10 (LCN10....)
  • LCT (LCT....)
  • LDB3 (LDB3....)
  • LDHA (LDHA....)
  • LDHB (LDHB....)
  • LDLR (LDLR....)
  • LDLRAD4 (LDLRAD4....)
  • LDLRAP1 (LDLRAP1....)
  • LEFTY2 (LEFTY2....)
  • LEMD3 (LEMD3....)
  • LEP (LEP....)
  • LEPR (LEPR....)
  • LEPRE1 (LEPRE1....)
  • LEPREL1 (LEPREL1....)
  • LETM1 (LETM1....)
  • LFNG (LFNG....)
  • LGALS13 (LGALS13....)
  • LGALS2 (LGALS2....)
  • LGALS3 (LGALS3....)
  • LGI1 (LGI1....)
  • LHB (LHB....)
  • LHCGR (LHCGR....)
  • LHFPL5 (LHFPL5....)
  • LHX1 (LHX1....)
  • LHX3 (LHX3....)
  • LHX4 (LHX4....)
  • LHX8 (LHX8....)
  • LIAS (LIAS....)
  • LIF (LIF....)
  • LIFR (LIFR....)
  • LIG1 (LIG1....)
  • LIG3 (LIG3....)
  • LIG4 (LIG4....)
  • LILRA3 (LILRA3....)
  • LIM2 (LIM2....)
  • LIMK1 (LIMK1....)
  • LIN28A (LIN28A....)
  • LIN28B (LIN28B....)
  • LINS (LINS....)
  • LIPA (LIPA....)
  • LIPC (LIPC....)
  • LIPE (LIPE....)
  • LIPG (LIPG....)
  • LIPH (LIPH....)
  • LIPI (LIPI....)
  • LIPN (LIPN....)
  • LITAF (LITAF....)
  • LLGL1 (LLGL1....)
  • LMAN1 (LMAN1....)
  • LMBR1 (LMBR1....)
  • LMBRD1 (LMBRD1....)
  • LMF1 (LMF1....)
  • LMNA (LMNA....)
  • LMNB1 (LMNB1....)
  • LMNB2 (LMNB2....)
  • LMTK3 (LMTK3....)
  • LMX1B (LMX1B....)
  • LNX2 (LNX2....)
  • LOR (LOR....)
  • LOX (LOX....)
  • LOXHD1 (LOXHD1....)
  • LOXL1 (LOXL1....)
  • LOXL2 (LOXL2....)
  • LPA (LPA....)
  • LPAR1 (LPAR1....)
  • LPAR6 (LPAR6....)
  • LPIN1 (LPIN1....)
  • LPIN2 (LPIN2....)
  • LPIN3 (LPIN3....)
  • LPL (LPL....)
  • LPP (LPP....)
  • LRAT (LRAT....)
  • LRCH1 (LRCH1....)
  • LRFN5 (LRFN5....)
  • LRP1 (LRP1....)
  • LRP2 (LRP2....)
  • LRP4 (LRP4....)
  • LRP5 (LRP5....)
  • LRP6 (LRP6....)
  • LRP8 (LRP8....)
  • LRPAP1 (LRPAP1....)
  • LRPPRC (LRPPRC....)
  • LRRC4 (LRRC4....)
  • LRRC6 (LRRC6....)
  • LRRC8A (LRRC8A....)
  • LRRK2 (LRRK2....)
  • LRSAM1 (LRSAM1....)
  • LRTOMT (LRTOMT....)
  • LTA (LTA....)
  • LTBP1 (LTBP1....)
  • LTBP2 (LTBP2....)
  • LTBP3 (LTBP3....)
  • LTBP4 (LTBP4....)
  • LTC4S (LTC4S....)
  • LTF (LTF....)
  • LTK (LTK....)
  • LTN1 (LTN1....)
  • LUM (LUM....)
  • LY96 (LY96....)
  • LYN (LYN....)
  • LYST (LYST....)
  • LYZ (LYZ....)
  • LZTFL1 (LZTFL1....)
  • LZTS1 (LZTS1....)
  • LIG4 syndrome (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Lymphoproliferative syndrome 1 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Lymphoproliferative syndrome 2 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Lymphoproliferative syndrome, X-linked, 1 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Leukocyte adhesion deficiency (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Lymphoproliferative syndrome, X-linked, 2 (ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA....)
  • Leydig cell hypoplasia with pseudohermaphroditism (AKR1C2, AR, CBX2, CYP11A1, DHCR7, DHH, DMRT1, HSD17B3, LHCGR, MAP3K1, NR0B1, NR5....)
  • Leprechaunism/Donohue Syndrome (CYP11B1, H6PD, HSD11B1, INSR, KISS1R, LHCGR, MKRN3....)
  • Leukoencephalopathy with vanishing white matter (AARS2, BMP15, DIAPH2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, FIGLA, FMR1....)
  • Leukoencephalopathy, progressive, with ovarian failure (AARS2, BMP15, DIAPH2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, FIGLA, FMR1....)