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Alphabetical order
| Disease | Gene | OMIM | TAT in weeks |
|---|---|---|---|
| lactase deficiency | |||
| congenital | LCT | 603202 | 3-4 |
| lactose intolerance | LCT | 601806 | 1-3 |
| Lafora disease | |||
| - | EPM2A | 607566 | 4-5 |
| - | EPM2B / NHLRC1 | 608072 | 3-4 |
| Laron syndrome | GHR | 600946 | 2-4 |
| Laron-like syndrome | STAT5B | 604260 | 2-4 |
| Larsen syndrome1,3 | |||
| NGS | FLNB | 603381 | 3-4 |
| Lateral Sclerosis1 | |||
| Type 2 | ALS2 | 606352 | 1-9 / 100 000 |
| amyotrophic | KIF5A | 602821 | 3-4 |
| amyotrophic | SOD1 | 147450 | 3-4 |
| amyotrophic 14 | VCP | 601023 | 2-6 |
| lateral sclerosis1 | |||
| amyotrophic | ALS2, ANG, ATXN2, DAO, FIG4, FUS, KIF5A, OPTN, PFN1, PON1, ... | 4-8 | |
| Leber congenital amaurosis1,2,3 | |||
| type 1 | GUCY2D | 600179 | 4-5 |
| type 10 | CEP290 | 610142 | 3-5 |
| type 11 | IMPDH1 | 146690 | 3-4 |
| type 12 | RD3 | 180040 | 3-4 |
| type 13 | RDH12 | 608830 | 3-4 |
| type 14 | LRAT | 604863 | 3-4 |
| type 15 | TULP1 | 602280 | 3-4 |
| type 16 | KCNJ13 | 603208 | 3-4 |
| type 2 | RPE65 | 180069 | 3-4 |
| type 3 | SPATA7 | 609868 | 3-4 |
| type 4 | AIPL1 | 604392 | 4-6 |
| type 5 | LCA5 | 611408 | 3-4 |
| type 6 | RPGRIP1 | 605446 | 3-4 |
| type 6 | RPGRIP1 | 605446 | 3-4 |
| type 7 | CRX | 602225 | 3-4 |
| type 8 | CRB1 | 604210 | 4-5 |
| type 9 | NMNAT1 | 608700 | 3-4 |
| Leber congenitale Amaurose1,2,3 | |||
| - | DTHD1 | 3-4 | |
| Leber Optic Atrophy | MT-ND1, MT-ND4, MT-ND6 | 2-4 | |
| Legius syndrome | |||
| - | SPRED1 | 609291 | 3-4 |
| Leigh Syndrome1 | |||
| Leigh syndrome | SURF1 | 185620 | 2-4 |
| Leopard syndrome3 | PTPN11 | 176876 | 3-4 |
| Lesch-Nyhan syndrome | HPRT1 | 308000 | 3-4 |
| leukaemia, acute myeloid | |||
| - | CEBPA | 116897 | 2 |
| Leukcocyte Adhesion Defect1 | |||
| Type 2 | SLC35C1 | 605881 | 2-4 |
| leukemia, acute myeloid (AML)* | |||
| - | FLT3-ITD | 136351 | 2-3 |
| leukemia, acute myeloid* | |||
| - | CALM-AF10 | 2 | |
| - | CBFB-MYH11 | 2 | |
| - | DEK-CAN | 2 | |
| - | RUNX1-RUNX1T1 | 2 | |
| - | CBL | 165360 | 2 |
| - | FLT3 | 136351 | 2 |
| - | IDH1 | 147700 | 2 |
| - | IDH2 | 147650 | 2 |
| - | KIT | 164920 | 2 |
| - | KMT2A-ELL | 2 | |
| - | KMT2A-MLLT1 | 2 | |
| - | KMT2A-MLLT3 | 2 | |
| - | KMT2A-MLLT4 | 2 | |
| - | KRAS | 190070 | 2 |
| - | MLL-PTD/KMT2A-PTD | 159555 | 2 |
| - | NPM1 | 164040 | 2 |
| - | RUNX1 | 151385 | 2 |
| - | TET2 | 612839 | 2 |
| - | WT1 | 607102 | 2 |
| NGS | ASXL1, BCOR, CEBPA, DNMT3A, FLT3, GATA2, IDH1, IDH2, KRAS, KIT, NPM1, NRAS, PTPN11, RUNX1, TET2, TP53 , WT1 | 2 | |
| leukemia, acute promyelocytic | |||
| qualitative | PML-RARA | 102578 | 1 |
| leukemia, atypical chronic myeloid | |||
| NGS | ASXL1, CALR, CBL, CSF3R, ETNK1, EZH2, JAK2, KIT, KRAS, MPL, NRAS, SETBP1, U2AF1 | 2 | |
| leukemia, B-cell acute lymphoblastic | |||
| - | IKZF1 | 603023 | 2 |
| leukemia, chronic lymphocytic | |||
| NGS | ATM, BIRC3, BTK, CHD2, MYD88, NOTCH1, PCLO, PLCG2, SF3B1, TP53, ZNF292 | 2 | |
| leukemia, chronic myeloid | |||
| quantitative | BCR-ABL1 | 151410 | 1-2 |
| sequencing | ABL1 | 189980 | 1-2 |
| leukemia, chronic myelomonocytic | |||
| NGS | ASXL1, CALR, CBL, CSF3R, DNMT3A, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NRAS, RUNX1, SETBP1, SF3B1, SRSF2, TET2, TP53, U2AF1, ZRSR2 | 2 | |
| leukemia, chronic neutrophilic | |||
| NGS | CSF3R, SETBP1, ASXL1 | 2 | |
| leukemia, juvenile myelomonocytic | |||
| NGS | CBL, NRAS, KRAS, PTPN11 | 2 | |
| leukemia, T-cell acute lymphoblastic | |||
| NGS | DNMT3A, FBXW7, IDH2, NOTCH1, PHF6, PTEN, RUNX1, TP53 | 2 | |
| Leukämie, akute lymphatische | |||
| quantitative | BCR-ABL1 p190/e1a2 | 151410 | 1-2 |
| Leukämie, chronische myeloische | |||
| qualitative | BCR-ABL | 151410 | 1-2 |
| LH resistancy* | LHCGR | 152790 | 2-4 |
| Li-Fraumeni syndrome | TP53 | 191170 | 4-6 |
| Liddle syndrome | |||
| - | 4-6 | ||
| - | SCNN1B | 600760 | 2-4 |
| - | SCNN1G | 600761 | 2-4 |
| Limb malformation1 | |||
| NGS | ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A, FBLN1, FGF10, FGF16, FGF9, FGFR1, FGFR2, FGFR3, FMN1, GDF5, GDF6, GJA1, GLI3, GNAS, GREM1, GSC, HDAC4, HDAC8, HOXA11, HOXA13, HOXD13, IHH, KCNJ2, KIF7, ... | 4-6 | |
| Limb-Girdle Muscular Dystrophy | |||
| LGMD2A | CAPN3 | 114240 | 2-4 |
| Lipodystrophy | |||
| NGS | AGPAT2, AKT2, BSCL2, CAV1, CIDEC, FBN1, INSR, LMNA, LMNB2, PPARG, PTRF, ZMPSTE24 | 4-8 | |
| lipodystrophy, progressive cephalothoracic | |||
| - | LMNB2 | 150341 | 2-4 |
| lissencephaly1 | |||
| type 2 | RELN | 600514 | 8-12 |
| Loeys-Dietz syndrome1,3 | |||
| Loeys-Dietz syndrome | TGFBR1 | 190181 | 2-4 |
| Loeys-Dietz syndrome | TGFBR2 | 190182 | 2-4 |
| Long QT syndrome1,3 | |||
| LQT1, LQT2, LQT5, LQT6 | KCNQ1, KCNH2, KCNE1, KCNE2 | 607542, 152427, 176261, 603796 | 2-4 |
| NGS | CALM1, CALM2, AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRPM4 | 607542 | 4-6 |
| Lowe syndrome | OCRL/OCRL1 | 300535 | 2-4 |
| Lujan-Fryns syndrome1 | MED12, UPF3B, ZDHHC9 | 4-6 | |
| lung disease, diffuse | |||
| NGS | ABCA3, CSF2RA, CSF2RB, MARS, SFTPB, NKX2-1 etc | 6-10 | |
| lymphedema | |||
| type 1 | FLT4 | 136352 | 2-4 |
| lymphocyte leukemia, large granular | |||
| - | STAT3 | 2 | |
| lymphohistiocytosis, hemophagocytic | |||
| NGS | PRF1, UNC13D, STX11, STXBP2 | 4-8 | |
| lymphoma, diffuse large B-cell | |||
| NGS | BCL2, EZH2, FOXO1, MEF2B, MYD88, CARD11, CCND3, CREBBP, PCLO, PIM1, TP53 | 2 | |
| lymphoma, follicular | |||
| NGS | BCL2, CREBBP, EP300, EZH2, KMT2D (MLL2), MEF2B, TP53 | 2 | |
| lymphoma, natural killer/T-cell | |||
| NGS | ARID1A, DDX3X, EP300, JAK3, MLL2/KMT2D, STAT3, TET2, TP53 | 2 | |
| lysinuric protein intolerance | SLC7A7 | 603593 | 2-4 |
¹ We offer molecular testing for all genes known for this disease. In some cases, specific genotype - phenotype correlations exist that allow for targeted testing. Please contact us.
² We offer linkage analysis where applicable (e. g., samples available from several family members, parental consanguinity) for prioritization of genes to be tested.
³ Step-by-step analysis
All Analysis are carried out in Ingelheim, exceptions are those marked with *, which are carried out in collaborating laboratories.