Osteology
Many genetic disorders of the bone cause skeletal and joint abnormalities that may seriously interfere with normal growth and development. By using genetic testing to accurately diagnose your patients, individualized treatments can be accelerated – providing medical solutions to patients and their families.
Abnormal mineralization panel
Our abnormal mineralization panel includes osteogenesis imperfecta, osteopetrosis, high and low bone density disorders, and differential diagnosis genes necessary to discriminate the real genetic cause. Actionable diseases, such as hypophosphatasia, are also included in our panel.
| No. of genes: | 94 |
|---|---|
| TAT: | 25 days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABCC6 | 603234 | Pseudoxanthoma elasticum, forme fruste | AD |
| Arterial calcification, generalized, of infancy, 2 | AR | ||
| Pseudoxanthoma elasticum | AR | ||
| ALPL | 171760 | Hypophosphatasia, infantile | AR |
| Odontohypophosphatasia | AD, AR | ||
| Hypophosphatasia, childhood | AR | ||
| Hypophosphatasia, adult | AD, AR | ||
| AMER1 | 300647 | Osteopathia striata with cranial sclerosis | XLD |
| ANKH | 605145 | Chondrocalcinosis 2 | AD |
| Craniometaphyseal dysplasia | AD | ||
| ANO5 | 608662 | Gnathodiaphyseal dysplasia | AD |
| Muscular dystrophy, limb-girdle, autosomal recessive 12 | AR | ||
| Miyoshi muscular dystrophy 3 | AR | ||
| AP2S1 | 602242 | Hypocalciuric hypercalcemia, type III | AD |
| ASCC1 | 614215 | Spinal muscular atrophy with congenital bone fractures 2 | AR |
| Barrett esophagus/esophageal adenocarcinoma | - | ||
| B3GAT3 | 606374 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | AR |
| B4GALT7 | 604327 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | AR |
| BMP1 | 112264 | Osteogenesis imperfecta, type XIII | AR |
| CA2 | 611492 | Osteopetrosis, autosomal recessive 3, with renal tubular acidosis | AR |
| CASR | 601199 | Epilepsy idiopathic generalized, susceptibility to, 8 | - |
| Hypocalcemia, autosomal dominant, with Bartter syndrome | AD | ||
| Hypocalciuric hypercalcemia, type I | AD | ||
| Hyperparathyroidism, neonatal | AD, AR | ||
| Hypocalcemia, autosomal dominant | AD | ||
| CLCN5 | 300008 | Nephrolithiasis, type I | XLR |
| Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis | XLR | ||
| Dent disease | XLR | ||
| Hypophosphatemic rickets | XLR | ||
| CLCN7 | 602727 | Osteopetrosis, autosomal recessive 4 | AR |
| Osteopetrosis, autosomal dominant 2 | AD | ||
| Hypopigmentation, organomegaly, and delayed myelination and development | AD | ||
| COL1A1 | 120150 | Ehlers-Danlos syndrome, arthrochalasia type, 1 | AD |
| Bone mineral density variation QTL, osteoporosis | AD | ||
| Osteogenesis imperfecta, type III | AD | ||
| Osteogenesis imperfecta, type I | AD | ||
| Caffey disease | AD | ||
| Osteogenesis imperfecta, type IV | AD | ||
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | AD | ||
| Osteogenesis imperfecta, type II | AD | ||
| COL1A2 | 120160 | Osteoporosis, postmenopausal | AD |
| Ehlers-Danlos syndrome, cardiac valvular type | AR | ||
| Ehlers-Danlos syndrome, arthrochalasia type, 2 | AD | ||
| Osteogenesis imperfecta, type III | AD | ||
| Osteogenesis imperfecta, type IV | AD | ||
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | AD | ||
| Osteogenesis imperfecta, type II | AD | ||
| CREB3L1 | 616215 | Osteogenesis imperfecta, type XVI | AR |
| CRTAP | 605497 | Osteogenesis imperfecta, type VII | AR |
| CTSK | 601105 | Pycnodysostosis | AR |
| CYP24A1 | 126065 | Hypercalcemia, infantile, 1 | AR |
| CYP27B1 | 609506 | Vitamin D-dependent rickets, type I | AR |
| CYP2R1 | 608713 | Rickets due to defect in vitamin D 25-hydroxylation deficiency | AR |
| DMP1 | 600980 | Hypophosphatemic rickets, AR | AR |
| DSPP | 125485 | Dentinogenesis imperfecta, Shields type III | AD |
| Dentin dysplasia, type II | AD | ||
| Deafness, autosomal dominant 39, with dentinogenesis | AD | ||
| Dentinogenesis imperfecta, Shields type II | AD | ||
| ENPP1 | 173335 | Arterial calcification, generalized, of infancy, 1 | AR |
| Obesity, susceptibility to | AD, AR, MF | ||
| Hypophosphatemic rickets, autosomal recessive, 2 | AR | ||
| Cole disease | AD | ||
| Diabetes mellitus, non-insulin-dependent, susceptibility to | AD | ||
| FAH | 613871 | Tyrosinemia, type I | AR |
| FAM20C | 611061 | Raine syndrome | AR |
| FERMT3 | 607901 | Leukocyte adhesion deficiency, type III | AR |
| FGF23 | 605380 | Tumoral calcinosis, hyperphosphatemic, familial, 2 | AR |
| Hypophosphatemic rickets, autosomal dominant | AD | ||
| FGFR1 | 136350 | Osteoglophonic dysplasia | AD |
| Trigonocephaly 1 | AD | ||
| Pfeiffer syndrome | AD | ||
| Encephalocraniocutaneous lipomatosis, somatic mosaic | - | ||
| Hypogonadotropic hypogonadism 2 with or without anosmia | AD | ||
| Jackson-Weiss syndrome | AD | ||
| Hartsfield syndrome | AD | ||
| FGFR3 | 134934 | Achondroplasia | AD |
| CATSHL syndrome | AD, AR | ||
| Thanatophoric dysplasia, type I | AD | ||
| Bladder cancer, somatic | - | ||
| Hypochondroplasia | AD | ||
| SADDAN | AD | ||
| Colorectal cancer, somatic | - | ||
| Crouzon syndrome with acanthosis nigricans | AD | ||
| Cervical cancer, somatic | - | ||
| Nevus, epidermal, somatic | - | ||
| Thanatophoric dysplasia, type II | AD | ||
| Spermatocytic seminoma, somatic | - | ||
| Muenke syndrome | AD | ||
| LADD syndrome | AD | ||
| FKBP10 | 607063 | Osteogenesis imperfecta, type XI | AR |
| Bruck syndrome 1 | AR | ||
| GALNT3 | 601756 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | AR |
| GJA1 | 121014 | Oculodentodigital dysplasia, autosomal recessive | AR |
| Atrioventricular septal defect 3 | AD | ||
| Syndactyly, type III | AD | ||
| Craniometaphyseal dysplasia, autosomal recessive | AR | ||
| Palmoplantar keratoderma with congenital alopecia | AD | ||
| Oculodentodigital dysplasia | AD | ||
| Hypoplastic left heart syndrome 1 | AR | ||
| Erythrokeratodermia variabilis et progressiva 3 | AD | ||
| GNA11 | 139313 | Hypocalciuric hypercalcemia, type II | AD |
| Hypocalcemia, autosomal dominant 2 | AD | ||
| GNAS | 139320 | Pseudohypoparathyroidism Ic | AD |
| Osseous heteroplasia, progressive | AD | ||
| Pseudopseudohypoparathyroidism | AD | ||
| Pseudohypoparathyroidism Ia | AD | ||
| Pseudohypoparathyroidism Ib | AD | ||
| Pituitary adenoma 3, multiple types, somatic | - | ||
| ACTH-independent macronodular adrenal hyperplasia | SM | ||
| McCune-Albright syndrome, somatic, mosaic | - | ||
| GORAB | 607983 | Geroderma osteodysplasticum | AR |
| GPAA1 | 603048 | Glycosylphosphatidylinositol biosynthesis defect 15 | AR |
| HPGD | 601688 | Cranioosteoarthropathy | AR |
| ?Digital clubbing, isolated congenital | AR | ||
| Hypertrophic osteoarthropathy, primary, autosomal recessive 1 | AR | ||
| HRAS | 190020 | Thyroid carcinoma, follicular, somatic | - |
| Spitz nevus or nevus spilus, somatic | - | ||
| Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - | ||
| Bladder cancer, somatic | - | ||
| Costello syndrome | AD | ||
| Nevus sebaceous or woolly hair nevus, somatic | - | ||
| Congenital myopathy with excess of muscle spindles | AD | ||
| IFITM5 | 614757 | Osteogenesis imperfecta, type V | AD |
| KRAS | 190070 | Arteriovenous malformation of the brain, somatic | - |
| Gastric cancer, somatic | - | ||
| Oculoectodermal syndrome, somatic | - | ||
| RAS-associated autoimmune leukoproliferative disorder | AD | ||
| Gastric cancer, somatic | - | ||
| Pancreatic carcinoma, somatic | - | ||
| Lung cancer, somatic | - | ||
| Cardiofaciocutaneous syndrome 2 | AD | ||
| Bladder cancer, somatic | - | ||
| Leukemia, acute myeloid, somatic | - | ||
| Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - | ||
| Breast cancer, somatic | - | ||
| Noonan syndrome 3 | AD | ||
| LEMD3 | 607844 | Osteopoikilosis with or without melorheostosis | AD |
| Buschke-Ollendorff syndrome | AD | ||
| LRP4 | 604270 | ?Myasthenic syndrome, congenital, 17 | AR |
| Cenani-Lenz syndactyly syndrome | AR | ||
| Sclerosteosis 2 | AD, AR | ||
| LRP5 | 603506 | van Buchem disease, type 2 | - |
| Osteosclerosis | AD | ||
| Osteoporosis | AD | ||
| [Bone mineral density variability 1] | AD | ||
| Osteopetrosis, autosomal dominant 1 | AD | ||
| Polycystic liver disease 4 with or without kidney cysts | AD | ||
| Osteoporosis-pseudoglioma syndrome | AR | ||
| Hyperostosis, endosteal | AD | ||
| Exudative vitreoretinopathy 4 | AD, AR | ||
| MBTPS2 | 300294 | Osteogenesis imperfecta, type XIX | XLR |
| ?Olmsted syndrome, X-linked | XLR | ||
| Keratosis follicularis spinulosa decalvans, X-linked | XLR | ||
| IFAP syndrome with or without BRESHECK syndrome | XLR | ||
| MESD | 607783 | Osteogenesis imperfecta, type XX | AR |
| MTAP | 156540 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | AD |
| NBAS | 608025 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly | AR |
| Infantile liver failure syndrome 2 | AR | ||
| NOTCH2 | 600275 | Alagille syndrome 2 | AD |
| Hajdu-Cheney syndrome | AD | ||
| NRAS | 164790 | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - |
| Colorectal cancer, somatic | - | ||
| Neurocutaneous melanosis, somatic | - | ||
| ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | - | ||
| Noonan syndrome 6 | AD | ||
| Melanocytic nevus syndrome, congenital, somatic | - | ||
| Thyroid carcinoma, follicular, somatic | - | ||
| Epidermal nevus, somatic | - | ||
| OCRL | 300535 | Lowe syndrome | XLR |
| Dent disease 2 | XLR | ||
| OSTM1 | 607649 | Osteopetrosis, autosomal recessive 5 | AR |
| P3H1 | 610339 | Osteogenesis imperfecta, type VIII | AR |
| P4HB | 176790 | Cole-Carpenter syndrome 1 | AD |
| PHEX | 300550 | Hypophosphatemic rickets, X-linked dominant | XLD |
| PLEKHM1 | 611466 | Osteopetrosis, autosomal dominant 3 | AD |
| ?Osteopetrosis, autosomal recessive 6 | AR | ||
| PLOD2 | 601865 | Bruck syndrome 2 | AR |
| PLS3 | 300131 | Bone mineral density QTL18, osteoporosis | XLD |
| PPIB | 123841 | Osteogenesis imperfecta, type IX | AR |
| PTDSS1 | 612792 | Lenz-Majewski hyperostotic dwarfism | AD |
| PTH1R | 168468 | Chondrodysplasia, Blomstrand type | AR |
| Failure of tooth eruption, primary | AD | ||
| Eiken syndrome | AR | ||
| Metaphyseal chondrodysplasia, Murk Jansen type | AD | ||
| SEC24D | 607186 | Cole-Carpenter syndrome 2 | AR |
| SERPINF1 | 172860 | Osteogenesis imperfecta, type VI | AR |
| SERPINH1 | 600943 | Preterm premature rupture of the membranes, susceptibility to | - |
| Osteogenesis imperfecta, type X | AR | ||
| SGMS2 | 611574 | Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia | AD |
| SH3PXD2B | 613293 | Frank-ter Haar syndrome | AR |
| SLC26A2 | 606718 | Diastrophic dysplasia, broad bone-platyspondylic variant | AR |
| Achondrogenesis Ib | AR | ||
| Epiphyseal dysplasia, multiple, 4 | AR | ||
| De la Chapelle dysplasia | AR | ||
| Diastrophic dysplasia | AR | ||
| Atelosteogenesis, type II | AR | ||
| SLC29A3 | 612373 | Histiocytosis-lymphadenopathy plus syndrome | AR |
| SLC34A1 | 182309 | Nephrolithiasis/osteoporosis, hypophosphatemic, 1 | AD |
| ?Fanconi renotubular syndrome 2 | AR | ||
| Hypercalcemia, infantile, 2 | AR | ||
| SLC34A3 | 609826 | Hypophosphatemic rickets with hypercalciuria | AR |
| SLC9A3R1 | 604990 | Nephrolithiasis/osteoporosis, hypophosphatemic, 2 | AD |
| SLCO2A1 | 601460 | Hypertrophic osteoarthropathy, primary, autosomal recessive 2 | AR |
| Hypertrophic osteoarthropathy, primary, autosomal dominant | AD | ||
| SNX10 | 614780 | Osteopetrosis, autosomal recessive 8 | AR |
| SOST | 605740 | Craniodiaphyseal dysplasia, autosomal dominant | AD |
| Van Buchem disease | AR | ||
| Sclerosteosis 1 | AR | ||
| SOX9 | 608160 | Acampomelic campomelic dysplasia | AD |
| Campomelic dysplasia | AD | ||
| Campomelic dysplasia with autosomal sex reversal | AD | ||
| SP7 | 606633 | Osteogenesis imperfecta, type XII | AR |
| SPARC | 182120 | Osteogenesis imperfecta, type XVII | AR |
| SQSTM1 | 601530 | Paget disease of bone 3 | AD |
| Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | AR | ||
| Myopathy, distal, with rimmed vacuoles | AD | ||
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | AD | ||
| TAPT1 | 612758 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | AR |
| TBXAS1 | 274180 | Ghosal hematodiaphyseal syndrome | AR |
| TCIRG1 | 604592 | Osteopetrosis, autosomal recessive 1 | AR |
| TENT5A | 611357 | Osteogenesis imperfecta, type XVIII | AR |
| TGFB1 | 190180 | Camurati-Engelmann disease | AD |
| Cystic fibrosis lung disease, modifier of | AR | ||
| Inflammatory bowel disease, immunodeficiency, and encephalopathy | AR | ||
| TMEM38B | 611236 | Osteogenesis imperfecta, type XIV | AR |
| TNFRSF11A | 603499 | Paget disease of bone 2, early-onset | AD |
| Osteopetrosis, autosomal recessive 7 | AR | ||
| Osteolysis, familial expansile | AD | ||
| TNFRSF11B | 602643 | Paget disease of bone 5, juvenile-onset | AR |
| TNFSF11 | 602642 | Osteopetrosis, autosomal recessive 2 | AR |
| TRIP4 | 604501 | Spinal muscular atrophy with congenital bone fractures 1 | AR |
| ?Muscular dystrophy, congenital, Davignon-Chauveau type | AR | ||
| TYROBP | 604142 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | AR |
| VDR | 601769 | Rickets, vitamin D-resistant, type IIA | AR |
| WNT1 | 164820 | Osteogenesis imperfecta, type XV | AR |
| Osteoporosis, early-onset, susceptibility to, autosomal dominant | - | ||
| XYLT2 | 608125 | Spondyloocular syndrome | AR |
| Pseudoxanthoma elasticum, modifier of severity of | AR | ||
| ZBTB20 | 606025 | Primrose syndrome | AD |
COMMON SYNDROMES AND DISORDERS COVERED
- Abnormal mineralization
- High bone density disorders
- Osteogenesis imperfecta
- Osteopetrosis
- Low bone density disorders
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