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Alphabetical order
| Disease | Gene | OMIM | TAT in weeks |
|---|---|---|---|
| obesity | |||
| - | LEP | 164160 | 2-4 |
| - | LEPR | 601007 | 2-4 |
| - | MC3R | 155540 | 2-4 |
| - | MC4R | 155541 | 2-4 |
| - | PCSK1 | 2-4 | |
| - | POMC | 176830 | 2-4 |
| MLPA | LEPR, MC4R, POMC, LEP, MC2R | 601007, 155541, 176830, 614962 | 2-4 |
| NGS | BBS1, BBS10, DYRK1B, KSR2, LEP, LEPR, MC3R, MC4R, NR0B2, NTRK2, PCSK1, POMC, PPARG, SIM1, UCP3 | 4-6 | |
| obesity1,3 | |||
| - | LEP | 164160 | 2-4 |
| - | LEPR | 601007 | 2-4 |
| - | MC3R | 155540 | 2-4 |
| - | MC4R | 155541 | 2-4 |
| - | PCSK1 | 2-4 | |
| - | POMC | 176830 | 2-4 |
| MLPA | LEPR, MC4R, POMC, LEP, MC2R | 601007, 155541, 176830, 614962 | 2-4 |
| NGS | BBS1, BBS10, DYRK1B, KSR2, LEP, LEPR, MC3R, MC4R, NR0B2, NTRK2, PCSK1, POMC, PPARG, SIM1, UCP3 | 4-6 | |
| Okihiro syndrome | SALL4 | 607343 | 4-6 |
| oligosaccharidosis | |||
| NGS | AGA, CTSA, FUCA1, MAN2B1, MANBA, NAGA, NEU1 | 4-8 | |
| Optic Atrophy1,3 | |||
| type 1, autosomal-dominant | OPA1 | 605290 | 2-4 |
| type 3, autosomal dominant | OPA3 | 606580 | 2-4 |
| type 7, autosomal recessive | TMEM126A | 612988 | 2-4 |
| organic acidemia (NGS)* | |||
| ornithine transcarbamylase deficiency1 | OTC | 311250 | 3-4 |
| Orofaciodigital syndrome | |||
| Type 1 | OFD1 | 300170 | 3-4 |
| Osler disease | |||
| NGS | ACVRL1, ENG, SMAD4, GDF2 | 601284, 131195, 600993, 605120 | 4-6 |
| osteoarthropathy1 | |||
| primary hypertrophic | SLCO2A1 | 601460 | 3-4 |
| primary hypertrophic | HPGD | 601688 | 2-4 |
| osteogenesis imperfecta, autosomal dominant1,3 | |||
| type 1, 2, 3, 4 | COL1A1 | 120150 | 4-6 |
| type 2, 3, 4 | COL1A2 | 120160 | 4-6 |
| type 5 and type 6 | IFITM5 | 614757 | 1-3 |
| osteogenesis imperfecta, autosomal recessive1 | |||
| - | PLOD2 | 601865 | 3-4 |
| - | SEC24D | 607186 | 4-8 |
| type 10 | SERPINH1 | 600943 | 2-4 |
| type 11 | FKBP10 | 607063 | 3-4 |
| type 12 | SP7 | 606633 | 4-8 |
| type 13 | BMP1 | 112264 | 3-4 |
| type 14 | TMEM38B | 611236 | 3-4 |
| type 15 | WNT1 | 164820 | 3-4 |
| type 6 | SERPINF1 | 172860 | 3-4 |
| type 6 | CREB3L1 | 616215 | 4-8 |
| type 7 | CRTAP | 605497 | 3-5 |
| type 8 | LEPRE1/P3H1 | 610339 | 3-4 |
| type 9 | PPIB | 123841 | 3-4 |
| Osteolysis | |||
| NGS | LMNA, MAFB, MMP14, MMP2, NOTCH2, TNFRSF11A, TREM2, TYROBP, ZMPSTE24 | 4-6 | |
| osteopathia striata, cranial sclerosis | |||
| osteopathia striata with cranial sclerosis | AMER1/WTX | 300647 | 2-3 |
| osteopetrosis | |||
| type 6 | PLEKHM1 | 611466 | 4-6 |
| osteopetrosis, autosomal dominant, autosomal recessive | |||
| type 2, 4 | CLCN7 | 602727 | 5-6 |
| osteopetrosis, autosomal recessive | |||
| type 1 | TCIRG1 | 604592 | 5-6 |
| type 2 | TNFSF11 | 602642 | 5-6 |
| type 5 | OSTM1 | 607649 | 5-6 |
| type 7 | TNFRSF11A | 5-6 | |
| osteoporosis-pseudoglioma syndrome | LRP5 | 603506 | 3-4 |
| Osteosarcoma | |||
| NGS | APC, BLM, MSH2, PALB2, RB1, RECQL4, TP53, WRN | 4-8 | |
| osteosclerosis - developmental delay - craniosynostosis | LRP5 | 603506 | 3-4 |
| osteosclerosis, autosomal dominant | |||
| type Worth | LRP5 | 603506 | 3-4 |
| otopalatodigital syndrome | FLNA | 300017 | 4-6 |
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.