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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: | 69 |
| TAT: | 25 days |
| Coverage: | ≥99.5% ≥20x |
| Details: | CNV analysis included |
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABCC6 | 603234 | Pseudoxanthoma elasticum, forme fruste; Pseudoxanthoma elasticum; generalized arterial calcification of infancy type 2 | AD, AR |
| ALPL | 171760 | adult hypophosphatasia; infantile hypophosphatasia; childhood-onset hypophosphatasia | AD, AR |
| ANKH | 605145 | Chondrocalcinosis 2; Craniometaphyseal dysplasia | AD |
| ANO5 | 608662 | gnathodiaphyseal dysplasia; limb-girdle muscular dystrophy type 2L | AD, AR |
| AP2S1 | 602242 | Hypocalciuric hypercalcemia, familial, type III | AD |
| BMP1 | 112264 | osteogenesis imperfecta type 13 | AR |
| CA2 | 611492 | Osteopetrosis, autosomal recessive 3, with renal tubular acidosis | AR |
| CASR | 601199 | Hypocalciuric hypercalcemia, type I; Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant, with Bartter syndrome; Epilepsy idiopathic generalized, susceptibility to, 8 | AD, AR |
| CLCN5 | 300008 | Dent disease; Hypophosphatemic rickets; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis; Nephrolithiasis, type I | XLR |
| CLCN7 | 602727 | Osteopetrosis, autosomal dominant 2; Osteopetrosis, autosomal recessive 4 | AD, AR |
| COL1A1 | 120150 | Caffey disease; Ehlers-Danlos syndrome arthrochalasia type 1; osteogenesis imperfecta type 1; osteogenesis imperfecta type 2; osteogenesis imperfecta type 4; OSTEOPOROSIS; osteogenesis imperfecta type 3 | AD |
| COL1A2 | 120160 | osteogenesis imperfecta type 2; osteogenesis imperfecta type 4; OSTEOPOROSIS; Ehlers-Danlos syndrome, cardiac valvular form; osteogenesis imperfecta type 3; Ehlers-Danlos syndrome arthrochalasia type 2 | AD, AR |
| CREB3L1 | 616215 | osteogenesis imperfecta type 16 | AR |
| CRTAP | 605497 | osteogenesis imperfecta type 7 | AR |
| CYP27B1 | 609506 | vitamin D-dependent rickets type 1A | AR |
| CYP2R1 | 608713 | vitamin D-dependent rickets type 1B | AR |
| DMP1 | 600980 | Hypophosphatemic Rickets, Autosomal Recessive, 1 | AR |
| ENPP1 | 173335 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Arterial calcification, generalized, of infancy, 1; OBESITY; Hypophosphatemic rickets, autosomal recessive, 2; Cole disease | AD, AR |
| FAH | 613871 | tyrosinemia type 1 | AR |
| FGF23 | 605380 | Hypophosphatemic rickets, autosomal dominant | AD, AR |
| FGFR1 | 136350 | Craniofacial-skeletal-dermatologic dysplasia; Jackson-Weiss syndrome; hypogonadotropic hypogonadism-2 with or without anosmia; Osteoglophonic dysplasia; Hartsfield syndrome | AD |
| FGFR3 | 134934 | Achondroplasia; Bladder Cancer; colorectal cancer; Hypochondroplasia; Lacrimoauriculodentodigital Syndrome; Nevus, Epidermal; Thanatophoric dysplasia, type I; Thanatophoric dysplasia, type II; Spermatocytic seminoma, somatic; Muenke syndrome; Cervical cancer, somatic; CATSHL syndrome; Crouzon syndrome with acanthosis nigricans | AD, AR |
| FKBP10 | 607063 | Bruck syndrome 1; osteogenesis imperfecta type 11 | AR |
| GALNT3 | 601756 | familial hyperphosphatemic tumoral calcinosis | AR |
| GJA1 | 121014 | Oculodentodigital dysplasia | AD, AR |
| GNA11 | 139313 | Hypocalciuric hypercalcemia, familial, type ii; Hypocalcemia, autosomal dominant 2 | AD |
| GNAS | 139320 | Pseudohypoparathyroidism Ia; Osseous heteroplasia, progressive; McCune-Albright syndrome, somatic, mosaic; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism type Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism | AD |
| GORAB | 607983 | geroderma osteodysplasticum | AR |
| HPGD | 601688 | Digital clubbing, isolated congenital; Cranioosteoarthropathy /Hypertrophic osteoarthropathy, primary, autosomal recessive 1 | AR |
| HRAS | 190020 | Bladder Cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Costello syndrome | AD |
| IFITM5 | 614757 | osteogenesis imperfecta type 5 | AD |
| KRAS | 190070 | Arteriovenous malformations of the brain; Bladder Cancer; familial breast-ovarian cancer type 2; Gastric Cancer, Hereditary Diffuse; Schimmelpenning-Feuerstein-Mims Syndrome; Lung Cancer; Pancreatic Cancer; acute myeloid leukemia; Noonan syndrome 3; Autoimmune lymphoproliferative syndrome type IV; Cardiofaciocutaneous syndrome 2 | AD |
| LRP5 | 603506 | Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus; OSTEOPOROSIS; Osteoporosis-pseudoglioma syndrome; Exudative vitreoretinopathy 4; Bone Mineral Density Quantitative Trait Locus 1; autosomal dominant osteopetrosis type 1; van Buchem disease, type 2 | AD, AR |
| MBTPS2 | 300294 | IFAP syndrome with or without BRESHECK syndrome; Keratosis follicularis spinulosa decalvans, X-linked | XLR |
| MTAP | 156540 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | AD |
| NOTCH2 | 600275 | Hajdu-Cheney syndrome; Alagille syndrome 2 | AD |
| NRAS | 164790 | colorectal cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Neurocutaneous melanosis, somatic; Noonan syndrome 6; Autoimmune lymphoproliferative syndrome type IV | AD |
| OCRL | 300535 | Dent disease type 2; Lowe oculocerebrorenal syndrome | XLR |
| OSTM1 | 607649 | Osteopetrosis, autosomal recessive 5 | AR |
| P3H1 | 610339 | osteogenesis imperfecta type 8 | AR |
| P4HB | 176790 | Cole-Carpenter syndrome 1 | AD |
| PHEX | 300550 | X-linked dominant hypophosphatemic rickets | XLD |
| PLEKHM1 | 611466 | Osteopetrosis, autosomal recessive 6 | AD, AR |
| PLOD2 | 601865 | Bruck syndrome 2 | AR |
| PLS3 | 300131 | Bone mineral density QTL18, osteoporosis | XLD |
| PPIB | 123841 | osteogenesis imperfecta type 9 | AR |
| PTDSS1 | 612792 | Lenz-Majewski hyperostotic dwarfism | AD |
| PTH1R | 168468 | primary failure of tooth eruption; Metaphyseal chondrodysplasia, Murk Jansen type; Chondrodysplasia, Blomstrand type; Eiken syndrome | AD, AR |
| SERPINF1 | 172860 | osteogenesis imperfecta type 6 | AR |
| SERPINH1 | 600943 | Preterm premature rupture of the membranes, susceptibility to; osteogenesis imperfecta type 10 | AR |
| SLC26A2 | 606718 | Diastrophic dysplasia; multiple epiphyseal dysplasia type 4; Atelosteogenesis type II; Achondrogenesis type IB | AR |
| SLC34A1 | 182309 | Nephrolithiasis/osteoporosis, hypophosphatemic, 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 | AD, AR |
| SLC34A3 | 609826 | Hypophosphatemic rickets with hypercalciuria | AR |
| SLC9A3R1 | 604990 | Nephrolithiasis/osteoporosis, hypophosphatemic, 2 | AD |
| SLCO2A1 | 601460 | Hypertrophic osteoarthropathy, primary, autosomal recessive 2 | AR |
| SNX10 | 614780 | Osteopetrosis, autosomal recessive 8 | AR |
| SOST | 605740 | Craniodiaphyseal dysplasia, autosomal dominant; Sclerosteosis 1 | AD, AR |
| SOX9 | 608160 | campomelic dysplasia | AD |
| SP7 | 606633 | osteogenesis imperfecta type 12 | AR |
| TBXAS1 | 274180 | Ghosal hematodiaphyseal syndrome | AR |
| TCIRG1 | 604592 | osteopetrosis type 1 | AR |
| TGFB1 | 190180 | Camurati-Engelmann disease; cystic fibrosis | AD, AR |
| TMEM38B | 611236 | osteogenesis imperfecta type 14 | |
| TNFRSF11A | 603499 | familial expansile osteolysis; Osteopetrosis, autosomal recessive 7 | AD, AR |
| TNFRSF11B | 602643 | Paget disease of bone 5, juvenile-onset | AR |
| TNFSF11 | 602642 | autosomal recessive osteopetrosis type 2 | AR |
| TYROBP | 604142 | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 1 | AR |
| VDR | 601769 | vitamin D-dependent rickets type 2A | AR |
| WNT1 | 164820 | osteogenesis imperfecta type 15; susceptibility to early-onset autosomal dominant osteoporosis | AR |