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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

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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.