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Categorical order

Skeletal disorders
Disease Gene OMIM TAT in weeks
3m syndrome      
NGS CUL7, OBSL1, CCDC8 999999 4-6
Albright syndrome GNAS 139320 2-4
Apert syndrome1,3 FGFR2 176943 2-3
Bone mineral density QTL18, osteoporosis      
x-chromosomal PLS3 300131 4-8
Boomerang dysplasia1,3 FLNB 603381 3-4
Bruck syndrome1      
type 1 FKBP10 607063 2-4
type 2 PLOD2 601865 2-4
Buschke-Ollendorff syndrome1 LEMD3 607844 2-4
CHST3-related skeletal dysplasia1 CHST3 603799 2-4
Caffey disease1      
Caffey disease COL1A1 120150 4-6
Caffey disease COL1A1 120150 2-3
Cleidocranial dysplasia1      
NGS ALX4, FIG4, MSX2, RUNX2, VAC14 4-6
Craniosynostoses      
NGS ALPL, ALX4, BMP4, CCBE1, CDC45, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, GLI3, IFT122, IFT43, IHH, IL11RA, IRX5, KRAS, LRP5, MASP1, MEGF8, MSX2, MYH3, P4HB, POR, RAB23, RECQL4, SCARF2, SEC24D, SKI, SMAD6, SPECC1L, STAT3, TCF12, TGFBR1.... 4-6
Crouzon syndrome FGFR2 176943 3-4
Desbuquois Syndrome1 CANT1 613165 3-4
Dysplasias of the long bones and/or spine      
NGS ACAN, ACP5, AIFM1, B3GALT6, B3GAT3, BGN, CANT1, CCN6, CFAP410, CHST3, COL10A1, COL11A1, COL11A2, COL27A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDR2, DDRGK1, DNAJC21, DYM, EFL1, EIF2AK3, EXTL3, FLNB, FN1, GPX4, HSPA9, HSPG2, IARS2, IMPAD1, INPPL1, ..... 4-6
Ellis van Creveld syndrome1,3      
- EVC 604831 2-4
- EVC2 607261 2-4
Frank-Ter Haar syndrome SH3PXD2B 613293 6-8
Gorlin-Goltz syndrome      
NGS PTCH1, SUFU 601309, 607035 4-6
Jackson-Weiss syndrome FGFR2 176943 1-2
Jeune syndrome1,2,3      
type 10 IFT172 607386 3-4
type 11 WDR34 613363 3-5
type 2 IFT80 611177 3-5
type 3 DYNC2H1 603297 4-8
type 4 TTC21B 612014 3-5
type 5 WDR19/IFT144 608151 3-5
type 6 NEK1 604588 3-5
type 7 WDR35 613602 4-5
type 8 WDR60 615462 5
Kniest dysplasia1,3      
Kniest dysplasia COL2A1 120140 4-6
Kniest dysplasia COL2A1 120140 4-6
Larsen syndrome1,3      
NGS FLNB 603381 3-4
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
McCune-Albright syndrome GNAS 139320 4-6
Melnick-Needles syndrome FLNA 300017 4-6
Microphthalmia1      
with limb anomalies SMOC1 608488 3-4
Muenke syndrome FGFR3 134934 1-2
Nail-Patella syndrome1,3 LMX1B 602575 3-4
Okihiro syndrome SALL4 607343 4-6
Orofaciodigital syndrome      
Type 1 OFD1 300170 3-4
Osteolysis      
NGS LMNA, MAFB, MMP14, MMP2, NOTCH2, TNFRSF11A, TREM2, TYROBP, ZMPSTE24 4-6
Pfeiffer syndrome      
- FGFR2 176943 1-2
Pseudopseudohypoaldosteronism GNAS 139320 2-4
Raine syndrome1 FAM20C 611061 4-8
Roberts syndrome1 ESCO2 609353 2-4
Robinow syndrome1      
autosomal dominant WNT5A 164975 2-4
autosomal recessive ROR2 602337 2-4
Rubinstein Taybi syndrome CREBBP, EP300 600140, 602700 4-8
Sensenbrenner syndrome      
CED1 IFT122 606045 3-4
CED2 WDR35 613602 4-5
CED3 IFT43 614068 3-4
CED4 WDR19 608151 3-5
Shortening of Long Tubular Bones (Acro-Meso-Rhizomelias)1      
NGS ADAMTS10, ADAMTS17, ADAMTSL2, BMPR1B, COL11A1, COL11A2, DVL1, DVL3, EXT1, FBN1, FGFR2, FGFR3, FLNA, FZD2, GDF5, GPC6, GSC, IFT122, IFT140, IFT43, IHH, LIFR, LRP4, LTBP2, LTBP3, MAB21L2, MIR140, NPR2, NXN, PDE4D, PRKAR1A, ROR2, SHOX, SLC26A2, SLCO5A1, ..... 4-6
Shprintzen-Goldberg syndrome1 SKI 164780 2-6
Shwachman-Diamond syndrome SBDS 607444 2-4
Skeletal dysostoses      
NGS ABCC9, ALX1, ALX3, ALX4, BMPER, CDC45L, CDC6, CDT1, CILK1, DHODH, DLL3, EDN1, EDNRA, EFNB1, EFTUD2, EIF4A3, EVC, EVC2, GDF3, GDF6, GMNN, GNAI3, HAAO, HES7, KAT6B, KYNU, LFNG, LMX1B, MEOX1, MESP2, MNX1, MYO18B, NKX3-2, OFD1, ORC1, ORC4, ORC6, PLCB4, ....... 4-6
Skeletal dysplasias with joint dislocations1      
NGS B3GALT6, B3GAT3, BPNT2, CANT1, CHST3, CSGALNACT1, EXOC6B, FAM20B, FKBP14, FLNB, GZF1, KIF22, PLOD1, SLC10A7, SLC26A2, XYLT1 4-6
Spondylocostal dysostosis (TBX6) TBX6 602427 4-8
Stickler syndrome1,3      
NGS verschiedene Gene für STICK 999999 4-8
type 1 COL2A1 120140 4-6
type 1 COL2A1 120140 4-6
type 2 COL11A1 120280 4-6
type 2 COL11A1 120280 2-4
TP63-associated diseases TP63 603273 4-8
Treacher Collins syndrome1,3      
Treacher Collins syndrome POLR1C 610060 3-4
Treacher Collins syndrome POLR1D 613715 3-4
Treacher Collins syndrome TCOF1 606847 6-8
achondrogenesis1,3      
type 1B SLC26A2 606718 3-4
type 2 COL2A1 120140 4-6
type 2 COL2A1 120140 4-6
type 2 COL2A1 120140 2-3
achondroplasia FGFR3 134934 2-3
atelosteogenesis1,3      
type 1 FLNB 603381 2-4
type 2 SLC26A2 606718 3-4
type 3 FLNB 603381 3-4
brachydactyly1      
type A2 GDF5 601146 2-4
type C GDF5 601146 2-4
cartilage-hair hypoplasia RMRP 157660 2-3
chondrodysplasia punctata      
rhizomelic, type 3 AGPS 603051 4-6
chondrodysplasia1      
metaphyseal, Schmid type COL10A1 120110 2-3
craniosynostosis      
- FGFR1, FGFR2, FGFR3 136350, 176943, 134934 3-4
digital clubbing1      
isolated congenital HPGD 601688 2-4
dwarfism      
diastrophic SLC26A2 606718 2-4
dysostosis*      
spondylocostal MESP2 605195 4-6
dysplasia1,3      
acromesomelic , Maroteaux Type NPR2 108961 4-6
acromesomelic, Hunter-Thompson type GDF5 601146 2-4
campomelic SOX9 608160 2-4
cleidocranial RUNX2 600211 2-4
familial isolated arrhythmogenic ventricular PKP2 602861 2-4
multiple epiphyseal, type 4 SLC26A2 606718 2-4
thanatophoric FGFR3 134934 3-4
fibular aplasia and complex brachydactyly1 GDF5 601146 2-4
hyperostosis corticalis generalisata LRP5 603506 3-4
hypochondrogenesis1,3      
hypochondrogenesis COL2A1 120140 4-6
hypochondrogenesis COL2A1 120140 4-6
hypochondroplasia1 FGFR3 134934 1-2
hypophosphatasia ALPL/TNSALP 171760 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
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
osteosclerosis - developmental delay - craniosynostosis LRP5 603506 3-4
osteosclerosis, autosomal dominant      
type Worth LRP5 603506 3-4
otopalatodigital syndrome FLNA 300017 4-6
pseudoachondroplasia1 COMP 600310 2-4
skeletal dysplasias with abnormal mineralization (NGS)      
NGS ALPL, ANKH, AP2S1, CASR, CDC73, CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FAM20C, FGF23, GCM2, GNA11, HRAS, NRAS, OCRL, PHEX, SLC34A1, SLC34A3, SLC9A3R1, TRPV6, VDR 4-6
skeletal dysplasias with decreased bone density      
NGS ALPL, ANO5, ATP6V0A2, B3GALT6, B4GALT7, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, DDX58, FKBP10, GORAB, IFIH1, IFITM5, LRP5, MBTPS2, NBAS, NOTCH2, P3H1, P4HB, PLOD2, PLS3, POLR3A, PPIB, PYCR1, SEC24D, SERPINF1, SERPINH1, SGMS2, SP7, SPARC, TENT5A, ........ 4-6
skeletal dysplasias with increased bone density      
NGS AMER1, ANKH, CA2, CLCN7, COL1A1, CSF1R, CTSK, DHCR24, DLX3, FAM20C, FERMT3, FGF23, GALNT3, GJA1, HPGD, IKBKG, KL, LEMD3, LRP4, LRP5, LRRK1, MAP2K1, MTAP, OSTM1, PLEKHM1, POLR3B, PTDSS1, PTH1R, SFRP4, SLC29A3, SLCO2A1, SNX10, SOST, TBXAS1, TCIRG1, ..... 4-6
spondylocarpotarsal synostosis1,3 FLNB 603381 3-4
spondyloepiphyseal dysplasia      
congenital type COL2A1 120140 4-6
congenital type COL2A1 120140 4-6
type trada TRAPPC2 300202 2-4
symphalangism1      
proximal NOG 602991 1-3
proximal GDF5 601146 3-4
synostoses1      
multiple GDF5 601146 3-4
vitamin D-resistant rickets      
type 2A VDR 601769 2-4
vitamin-D dependent rickets1      
Type 1B CYP2R1 608713 3-4
type 1A CYP27B1 609506 3-4

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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.

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