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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

COMMON SYNDROMES AND DISORDERS COVERED

Abnormal mineralization
High bone density disorders
Osteogenesis imperfecta
Osteopetrosis
Low bone density disorders

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