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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

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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 ‚Äčin Ingelheim, exceptions are those marked with *, which are carried out in ‚Äčcollaborating laboratories.