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.

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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
New Coverage:	≥99.0% ≥20x
Details:	CNV analysis included

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
ABCC6	603234	Pseudoxanthoma elasticum, forme fruste;Arterial calcification, generalized, of infancy, 2;Pseudoxanthoma elasticum	AD, AR
ALPL	171760	Hypophosphatasia, infantile;Odontohypophosphatasia;Hypophosphatasia, childhood;Hypophosphatasia, adult	AR, AD, AR
AMER1	300647	Osteopathia striata with cranial sclerosis	XLD
ANKH	605145	Chondrocalcinosis 2;Craniometaphyseal dysplasia	AD
ANO5	608662	Gnathodiaphyseal dysplasia;Muscular dystrophy, limb-girdle, autosomal recessive 12;Miyoshi muscular dystrophy 3	AD, AR
AP2S1	602242	Hypocalciuric hypercalcemia, type III	AD
ASCC1	614215	Spinal muscular atrophy with congenital bone fractures 2;Barrett esophagus/esophageal adenocarcinoma	AR
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, AD, with Bartter syndrome;Hypocalciuric hypercalcemia, type I;Hyperparathyroidism, neonatal;Hypocalcemia, AD	AD, AD, AR
CLCN5	300008	Nephrolithiasis, type I;Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis;Dent disease;Hypophosphatemic rickets	XLR
CLCN7	602727	Osteopetrosis, autosomal recessive 4;Osteopetrosis, AD 2;Hypopigmentation, organomegaly, and delayed myelination and development	AR, AD
COL1A1	120150	Ehlers-Danlos syndrome, arthrochalasia type, 1;Bone mineral density variation QTL, osteoporosis;Osteogenesis imperfecta, type III;Osteogenesis imperfecta, type I;Caffey disease;Osteogenesis imperfecta, type IV;Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1;Osteogenesis imperfecta, type II	AD
COL1A2	120160	Osteoporosis, postmenopausal;Ehlers-Danlos syndrome, cardiac valvular type;Ehlers-Danlos syndrome, arthrochalasia type, 2;Osteogenesis imperfecta, type III;Osteogenesis imperfecta, type IV;Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2;Osteogenesis imperfecta, type II	AD, AR
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;Dentin dysplasia, type II;Deafness, AD 39, with dentinogenesis;Dentinogenesis imperfecta, Shields type II	AD
ENPP1	173335	Arterial calcification, generalized, of infancy, 1;Obesity, susceptibility to;Hypophosphatemic rickets, autosomal recessive, 2;Cole disease;Diabetes mellitus, non-insulin-dependent, susceptibility to	AR, AD, AR, MF, 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;Hypophosphatemic rickets, AD	AR, AD
FGFR1	136350	Osteoglophonic dysplasia;Trigonocephaly 1;Pfeiffer syndrome;Encephalocraniocutaneous lipomatosis, somatic mosaic;Hypogonadotropic hypogonadism 2 with or without anosmia;Jackson-Weiss syndrome;Hartsfield syndrome	AD
FGFR3	134934	Achondroplasia;CATSHL syndrome;Thanatophoric dysplasia, type I;Bladder cancer, somatic;Hypochondroplasia;SADDAN;Colorectal cancer, somatic;Crouzon syndrome with acanthosis nigricans;Cervical cancer, somatic;Nevus, epidermal, somatic;Thanatophoric dysplasia, type II;Spermatocytic seminoma, somatic;Muenke syndrome;LADD syndrome	AD, AD, AR
FKBP10	607063	Osteogenesis imperfecta, type XI;Bruck syndrome 1	AR
GALNT3	601756	Tumoral calcinosis, hyperphosphatemic, familial, 1	AR
GJA1	121014	Oculodentodigital dysplasia, AR;Atrioventricular septal defect 3;Syndactyly, type III;Craniometaphyseal dysplasia, AR;Palmoplantar keratoderma with congenital alopecia;Oculodentodigital dysplasia;Hypoplastic left heart syndrome 1;Erythrokeratodermia variabilis et progressiva 3	AR, AD
GNA11	139313	Hypocalciuric hypercalcemia, type II;Hypocalcemia, AD 2	AD
GNAS	139320	Pseudohypoparathyroidism Ic;Osseous heteroplasia, progressive;Pseudopseudohypoparathyroidism;Pseudohypoparathyroidism Ia;Pseudohypoparathyroidism Ib;Pituitary adenoma 3, multiple types, somatic;ACTH-independent macronodular adrenal hyperplasia;McCune-Albright syndrome, somatic, mosaic	AD, SM
GORAB	607983	Geroderma osteodysplasticum	AR
GPAA1	603048	Glycosylphosphatidylinositol biosynthesis defect 15	AR
HPGD	601688	Cranioosteoarthropathy;?Digital clubbing, isolated congenital;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;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;Pancreatic carcinoma, somatic;Lung cancer, somatic;Cardiofaciocutaneous syndrome 2;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;Buschke-Ollendorff syndrome	AD
LRP4	604270	?Myasthenic syndrome, congenital, 17;Cenani-Lenz syndactyly syndrome;Sclerosteosis 2	AR, AD, AR
LRP5	603506	van Buchem disease, type 2;Osteosclerosis;Osteoporosis;[Bone mineral density variability 1];Osteopetrosis, AD 1;Polycystic liver disease 4 with or without kidney cysts;Osteoporosis-pseudoglioma syndrome;Hyperostosis, endosteal;Exudative vitreoretinopathy 4	AD, AR, AD, AR
MBTPS2	300294	Osteogenesis imperfecta, type XIX;?Olmsted syndrome, X-linked;Keratosis follicularis spinulosa decalvans, X-linked;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;Infantile liver failure syndrome 2	AR
NOTCH2	600275	Alagille syndrome 2;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;Melanocytic nevus syndrome, congenital, somatic;Thyroid carcinoma, follicular, somatic;Epidermal nevus, somatic	AD
OCRL	300535	Lowe syndrome;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, XLD	XLD
PLEKHM1	611466	Osteopetrosis, AD 3;?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 IX	AR
PTDSS1	612792	Lenz-Majewski hyperostotic dwarfism	AD
PTH1R	168468	Chondrodysplasia, Blomstrand type;Failure of tooth eruption, primary;Eiken syndrome;Metaphyseal chondrodysplasia, Murk Jansen type	AR, 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;Achondrogenesis Ib;Epiphyseal dysplasia, multiple, 4;De la Chapelle dysplasia;Diastrophic dysplasia;Atelosteogenesis, type II	AR
SLC29A3	612373	Histiocytosis-lymphadenopathy plus syndrome	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;Hypertrophic osteoarthropathy, primary, AD	AR, AD
SNX10	614780	Osteopetrosis, autosomal recessive 8	AR
SOST	605740	Craniodiaphyseal dysplasia, AD;Van Buchem disease;Sclerosteosis 1	AD, AR
SOX9	608160	Acampomelic campomelic dysplasia;Campomelic dysplasia;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;Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset;Myopathy, distal, with rimmed vacuoles;Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	AD, AR
TAPT1	612758	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type	AR
TBXAS1	274180	Ghosal hematodiaphyseal syndrome	AR
TCIRG1	604592	Osteopetrosis, autosomal recessive 1	AR
TGFB1	190180	Camurati-Engelmann disease;Cystic fibrosis lung disease, modifier of;Inflammatory bowel disease, immunodeficiency, and encephalopathy	AD, AR
TMEM38B	611236	Osteogenesis imperfecta, type XIV	AR
TNFRSF11A	603499	Paget disease of bone 2, early-onset;Osteopetrosis, autosomal recessive 7;Osteolysis, familial expansile	AD, AR
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;?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;Osteoporosis, early-onset, susceptibility to, AD	AR
XYLT2	608125	Spondyloocular syndrome;Pseudoxanthoma elasticum, modifier of severity of	AR
ZBTB20	606025	Primrose syndrome	AD
TENT5A	611357	Osteogenesis imperfecta, type XVIII	AR

COMMON SYNDROMES AND DISORDERS COVERED

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

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Osteology

Visit Our Online Ordering Portal

CentoPortal® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.

CentoPortal^® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.