Invitae Skeletal Disorders Panel
At a Glance
Diagnosis;
Pre-symptomatic;
Therapeutic management
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans;
3M syndrome 1;
3M syndrome 2
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Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
3M syndrome 1
3M syndrome 2
3M syndrome 3
ACTH-independent macronodular adrenal hyperplasia 1
Achondrogenesis type II
Achondrogenesis, type IA
Achondrogenesis, type IB
Achondroplasia
Acrocapitofemoral dysplasia
Acrocephalosyndactyly type I
Acrodysostosis 1 with or without hormone resistance
Acrodysostosis 2 with or without hormone resistance
Acromesomelic dysplasia 1, Maroteaux type
Acromesomelic dysplasia 2B
Acromesomelic dysplasia 2C, Hunter-Thompson type
Acromesomelic dysplasia 3
Acromicric dysplasia
Acute myeloid leukemia
Adult hypophosphatasia
Al-Gazali syndrome
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a NOTCH2 point mutation
Amyotrophic lateral sclerosis type 11
Amyotrophic lateral sclerosis, susceptibility to, 24
Anauxetic dysplasia 1
Anauxetic dysplasia 2
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Arterial calcification, generalized, of infancy, 1
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
Arthrogryposis, distal, type 2B3
Aspartylglucosaminuria
Asphyxiating thoracic dystrophy 2
Asphyxiating thoracic dystrophy 3
Asphyxiating thoracic dystrophy 4
Asphyxiating thoracic dystrophy 5
Atelosteogenesis type I
Atelosteogenesis type II
Atelosteogenesis type III
Atrioventricular septal defect and common atrioventricular junction
Autosomal dominant Kenny-Caffey syndrome
Autosomal dominant Robinow syndrome 1
Autosomal dominant Robinow syndrome 2
Autosomal dominant Robinow syndrome 3
Autosomal dominant hypocalcemia 1
Autosomal dominant hypophosphatemic rickets
Autosomal dominant nonsyndromic hearing loss 13
Autosomal dominant omodysplasia
Autosomal dominant osteopetrosis 1
Autosomal dominant osteopetrosis 2
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal recessive Kenny-Caffey syndrome
Autosomal recessive Robinow syndrome
Autosomal recessive cutis laxa type 2B
Autosomal recessive hypophosphatemic bone disease
Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive nonsyndromic hearing loss 53
Autosomal recessive omodysplasia
Autosomal recessive osteopetrosis 1
Autosomal recessive osteopetrosis 2
Autosomal recessive osteopetrosis 4
Autosomal recessive osteopetrosis 5
Autosomal recessive osteopetrosis 7
Autosomal recessive osteopetrosis 8
Autosomal recessive spondylometaphyseal dysplasia, Megarbane type
Avascular necrosis of femoral head, primary, 1
Avascular necrosis of femoral head, primary, 2
Axial spondylometaphyseal dysplasia
Baller-Gerold syndrome
Bardet-Biedl syndrome 22
Barrett esophagus
Bartsocas-Papas syndrome 2
Beare-Stevenson cutis gyrata syndrome
Beckwith-Wiedemann syndrome
Bent bone dysplasia syndrome 1
Beta-D-mannosidosis
Bilateral parasagittal parieto-occipital polymicrogyria
Blepharophimosis - intellectual disability syndrome, SBBYS type
Body mass index quantitative trait locus 14
Bone mineral density quantitative trait locus 1
Bone mineral density quantitative trait locus 18
Boomerang dysplasia
Brachydactyly type A1A
Brachydactyly type A1C
Brachydactyly type A1D
Brachydactyly type B1
Brachydactyly type B2
Brachydactyly type C
Brachydactyly type E2
Brachyolmia-amelogenesis imperfecta syndrome
Brachyrachia (short spine dysplasia)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
Bruck syndrome 1
Bruck syndrome 2
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY
CK syndrome
CODAS syndrome
COG1 congenital disorder of glycosylation
Calvarial doughnut lesions-bone fragility syndrome
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Camptomelic dysplasia
Carcinoma of pancreas
Cardiac valvular dysplasia, X-linked
Cardiospondylocarpofacial syndrome
Carney complex, type 1
Carpal tunnel syndrome 2
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Cenani-Lenz syndactyly syndrome
Cerebro-costo-mandibular syndrome
Cervical cancer
Charcot-Marie-Tooth disease X-linked recessive 4
Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease axonal type 2V
Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease type 4J
Child syndrome
Childhood hypophosphatasia
Chondrocalcinosis 2
Chondrodysplasia Blomstrand type
Chondrodysplasia punctata 2 X-linked dominant
Chondrosarcoma
Cleidocranial dysostosis
Cocoon syndrome
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
Cole-Carpenter syndrome 1
Cole-Carpenter syndrome 2
Colorectal cancer
Combined deficiency of sialidase AND beta galactosidase
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital heart defects, multiple types, 2
Congenital muscular dystrophy due to LMNA mutation
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Congenital myasthenic syndrome 17
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Contractures, pterygia, and variable skeletal fusions syndrome 1B
Cranioectodermal dysplasia 1
Cranioectodermal dysplasia 2
Cranioectodermal dysplasia 3
Cranioectodermal dysplasia 4
Craniometaphyseal dysplasia, autosomal dominant
Craniometaphyseal dysplasia, autosomal recessive
Craniosynostosis 2
Crouzon syndrome
Crouzon syndrome-acanthosis nigricans syndrome
Currarino triad
Curry-Hall syndrome
Cystic fibrosis
DNA ligase IV deficiency
Deafness, X-linked 5
Deafness, congenital heart defects, and posterior embryotoxon
Deficiency of alpha-mannosidase
Deficiency of hyaluronoglucosaminidase
Dent disease type 1
Dent disease type 2
Dermatofibrosis lenticularis disseminata
Desbuquois dysplasia 1
Desbuquois dysplasia 2
Desmosterolosis
Diaphanospondylodysostosis
Diaphyseal dysplasia
Diastrophic dysplasia
Dilated cardiomyopathy 1A
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Duane retraction syndrome 3 with or without deafness
Dyggve-Melchior-Clausen syndrome
Ectopia lentis 1, isolated, autosomal dominant
Ehlers-Danlos syndrome, arthrochalasia type
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, musculocontractural type 1
Ehlers-Danlos syndrome, spondylocheirodysplastic type
Ehlers-Danlos syndrome, spondylodysplastic type, 1
Ehlers-Danlos syndrome, spondylodysplastic type, 2
Ehlers-danlos syndrome, arthrochalasia type, 2
Eiken syndrome
Ellis-van Creveld syndrome
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Encephalocraniocutaneous lipomatosis
Encephalopathy, progressive, with amyotrophy and optic atrophy
Epidermal nevus
Epilepsy, idiopathic generalized, susceptibility to, 8
Epileptic encephalopathy, infantile or early childhood, 1
Epiphyseal dysplasia, multiple, 2
Epiphyseal dysplasia, multiple, 3
Epiphyseal dysplasia, multiple, 6
Epiphyseal dysplasia, multiple, 7
Erythrokeratodermia variabilis et progressiva 3
Exostoses, multiple, type 1
Exostoses, multiple, type 2
Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 4
FG syndrome 2
Familial X-linked hypophosphatemic vitamin D refractory rickets
Familial atrial myxoma
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Familial digital arthropathy-brachydactyly
Familial expansile osteolysis
Familial hypocalciuric hypercalcemia 1
Familial partial lipodystrophy, Dunnigan type
Familial scaphocephaly syndrome, McGillivray type
Fanconi renotubular syndrome 2
Fanconi-Bickel syndrome
Fatty acyl-CoA reductase 1 deficiency
Fibrochondrogenesis 1
Fibrochondrogenesis 2
Floating-Harbor syndrome
Frank-Ter Haar syndrome
Freeman-Sheldon syndrome
Frontometaphyseal dysplasia 1
Frontometaphyseal dysplasia 2
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Fucosidosis
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GNE myopathy
GNPTG-mucolipidosis
Galloway-Mowat syndrome 6
Gastric cancer
Geleophysic dysplasia 2
Geleophysic dysplasia 3
Genitopatellar syndrome
Germ cell tumor of testis
Geroderma osteodysplastica
Ghosal hematodiaphyseal dysplasia
Glaucoma 3, primary congenital, D
Glaucoma 3, primary infantile, B
Glomerulopathy with fibronectin deposits 2
Gnathodiaphyseal dysplasia
Grebe syndrome
Greenberg dysplasia
Growth delay due to insulin-like growth factor type 1 deficiency
H syndrome
Hajdu-Cheney syndrome
Hartsfield-Bixler-Demyer syndrome
Hearing loss, autosomal dominant 37
Heart-hand syndrome, Slovenian type
Hemochromatosis type 1
Hennekam lymphangiectasia-lymphedema syndrome 2
Hereditary diffuse leukoencephalopathy with spheroids
Hereditary insensitivity to pain with anhidrosis
Heterotopia, periventricular, X-linked dominant
Heyn-Sproul-Jackson syndrome
Holt-Oram syndrome
Humerofemoral hypoplasia with radiotibial ray deficiency
Hutchinson-Gilford syndrome
Hypercalcemia, infantile, 2
Hypercholesterolemia, familial, 1
Hyperphosphatasemia with bone disease
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
Hypochondroplasia
Hypogonadotropic hypogonadism 2 with or without anosmia
Hypoparathyroidism-retardation-dysmorphism syndrome
Hypophosphatemic nephrolithiasis/osteoporosis 1
Hypophosphatemic rickets, X-linked recessive
Hypophosphatemic rickets, autosomal recessive, 1
Hypophosphatemic rickets, autosomal recessive, 2
Hypopigmentation, organomegaly, and delayed myelination and development
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Hypoplastic left heart syndrome 1
IFAP syndrome 1, with or without BRESHECK syndrome
IMAGe syndrome
Immunodeficiency 23
Immunoskeletal dysplasia with neurodevelopmental abnormalities
Infantile GM1 gangliosidosis
Infantile cortical hyperostosis
Infantile hypophosphatasia
Infantile liver failure syndrome 2
Inflammatory bowel disease, immunodeficiency, and encephalopathy
Intellectual disability, autosomal dominant 29
Intervertebral disc disorder
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
Isolated congenital digital clubbing
Isolated growth hormone deficiency, type 4
Jackson-Weiss syndrome
Jawad syndrome
Joint laxity, short stature, and myopia
Joubert syndrome 18
Joubert syndrome 21
Joubert syndrome 23
Joubert syndrome 31
Joubert syndrome 38
Juberg-Hayward syndrome
Juvenile myelomonocytic leukemia
Juvenile nephropathic cystinosis
Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Keratosis follicularis spinulosa decalvans, X-linked
Keutel syndrome
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Klippel-Feil syndrome 2, autosomal recessive
Kniest dysplasia
LEOPARD syndrome 1
Laron-type isolated somatotropin defect
Larsen syndrome
Larsen-like syndrome, B3GAT3 type
Legg-Calve-Perthes disease
Lenz-Majewski hyperostosis syndrome
Lethal Kniest-like syndrome
Lethal osteosclerotic bone dysplasia
Lethal polymalformative syndrome, Boissel type
Lethal tight skin contracture syndrome
Levy-Hollister syndrome
Liberfarb syndrome
Lowe syndrome
Lowry-Wood syndrome
MASS syndrome
MEND syndrome
Malignant tumor of urinary bladder
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Marfan syndrome
Marshall syndrome
McCune-Albright syndrome
Meester-Loeys syndrome
Meier-Gorlin syndrome 1
Meier-Gorlin syndrome 2
Meier-Gorlin syndrome 3
Meier-Gorlin syndrome 4
Meier-Gorlin syndrome 5
Meier-Gorlin syndrome 6
Meier-Gorlin syndrome 7
Meier-Gorlin syndrome 8
Melnick-Needles syndrome
Metachondromatosis
Metaphyseal anadysplasia 2
Metaphyseal chondrodysplasia, Jansen type
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal chondrodysplasia, Schmid type
Metaphyseal chondrodysplasia, Spahr type
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
Metaphyseal dysplasia without hypotrichosis
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Metatropic dysplasia
Microcephalic osteodysplastic primordial dwarfism type II
Microcephalic primordial dwarfism due to RTTN deficiency
Microcephalic primordial dwarfism, Alazami type
Microcephaly 1, primary, autosomal recessive
Microcephaly 3, primary, autosomal recessive
Microcephaly 5, primary, autosomal recessive
Microcephaly 6, primary, autosomal recessive
Microcephaly 8, primary, autosomal recessive
Microcephaly 9, primary, autosomal recessive
Microcephaly and chorioretinopathy 2
Microcephaly and chorioretinopathy 3
Microcephaly, growth deficiency, seizures, and brain malformations
Microcephaly, short stature, and impaired glucose metabolism 1
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Mitochondrial DNA deletion syndrome with progressive myopathy
Miyoshi muscular dystrophy 3
Mucolipidosis type II
Mucopolysaccharidosis type 6
Mucopolysaccharidosis type 7
Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-D
Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis-plus syndrome
Muenke syndrome
Mulibrey nanism syndrome
Multicentric carpo-tarsal osteolysis with or without nephropathy
Multicentric osteolysis nodulosis arthropathy spectrum
Multiple epiphyseal dysplasia type 1
Multiple epiphyseal dysplasia type 4
Multiple epiphyseal dysplasia, Beighton type
Multiple myeloma
Multiple sulfatase deficiency
Multiple synostoses syndrome 2
Multiple synostoses syndrome 3
Myhre syndrome
Myopathy, distal, with rimmed vacuoles
Nail-patella syndrome
Nail-patella-like renal disease
Namaqualand hip dysplasia
Neonatal severe primary hyperparathyroidism
Nephronophthisis 12
Nephronophthisis 13
Nephropathic cystinosis
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
Neuronopathy, distal hereditary motor, autosomal dominant 8
Noonan syndrome 1
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO
Obesity
Ocular cystinosis
Oculocerebrodental syndrome
Oculocerebrofacial syndrome, Kaufman type
Oculodentodigital dysplasia
Oculodentodigital dysplasia, autosomal recessive
Odontochondrodysplasia 1
Olmsted syndrome, X-linked
Opsismodysplasia
Orofacial-digital syndrome IV
Orofaciodigital syndrome 17
Orofaciodigital syndrome XV
Orofaciodigital syndrome type 14
Osteoarthritis susceptibility 5
Osteocraniostenosis
Osteodysplastic primordial dwarfism, type 1
Osteogenesis imperfecta type 10
Osteogenesis imperfecta type 11
Osteogenesis imperfecta type 12
Osteogenesis imperfecta type 13
Osteogenesis imperfecta type 15
Osteogenesis imperfecta type 16
Osteogenesis imperfecta type 17
Osteogenesis imperfecta type 5
Osteogenesis imperfecta type 6
Osteogenesis imperfecta type 7
Osteogenesis imperfecta type 8
Osteogenesis imperfecta type 9
Osteogenesis imperfecta type I
Osteogenesis imperfecta type III
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta, type 19
Osteoglophonic dysplasia
Osteopathia striata with cranial sclerosis
Osteopetrosis with renal tubular acidosis
Osteoporosis with pseudoglioma
Oto-palato-digital syndrome, type I
Oto-palato-digital syndrome, type II
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
PYCR1-related de Barsy syndrome
Paget disease of bone 2, early-onset
Paget disease of bone 3
Paget disease of bone 6
Parastremmatic dwarfism
Parietal foramina 1
Parietal foramina with cleidocranial dysplasia
Pelger-Huët anomaly
Pelviscapular dysplasia
Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 9B
Pfeiffer syndrome
Phytanic acid storage disease
Pigmented nodular adrenocortical disease, primary, 1
Pituitary adenoma 3, multiple types
Platyspondylic dysplasia, Torrance type
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
Polycystic liver disease 4 with or without kidney cysts
Postmenopausal osteoporosis
Preterm premature rupture of membranes
Primary failure of tooth eruption
Progeroid and marfanoid aspect-lipodystrophy syndrome
Progressive myositis ossificans
Progressive osseous heteroplasia
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
Proximal symphalangism 1A
Pseudo-Hurler polydystrophy
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
Pseudohypoparathyroidism type I A
Pseudopseudohypoparathyroidism
Pyknodysostosis
Pyle metaphyseal dysplasia
Rapadilino syndrome
Regressive spondylometaphyseal dysplasia
Retinal dystrophy with or without macular staphyloma
Retinitis pigmentosa 71
Retinitis pigmentosa 73
Retinitis pigmentosa 80
Retinitis pigmentosa 81
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Reynolds syndrome
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2
Rhizomelic chondrodysplasia punctata type 3
Rhizomelic chondrodysplasia punctata type 5
Roberts-SC phocomelia syndrome
Robinow syndrome, autosomal recessive 2
Roifman syndrome
Rothmund-Thomson syndrome type 2
Rothmund-Thomson syndrome, type 3
Saethre-Chotzen syndrome
Saldino-Mainzer syndrome
Salla disease
Scapuloperoneal spinal muscular atrophy
Schimke immuno-osseous dysplasia
Schinzel-Giedion syndrome
Schneckenbecken dysplasia
Schwartz-Jampel syndrome type 1
Sclerosteosis 2
Seckel syndrome 1
Seckel syndrome 10
Seckel syndrome 2
Seckel syndrome 4
Seckel syndrome 5
Seckel syndrome 6
Seckel syndrome 7
Seckel syndrome 8
Seizures-scoliosis-macrocephaly syndrome
Senior-Loken syndrome 8
Senior-Loken syndrome 9
Severe X-linked mitochondrial encephalomyopathy
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Short stature due to growth hormone secretagogue receptor deficiency
Short stature due to partial GHR deficiency
Short stature with nonspecific skeletal abnormalities
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
Short stature, microcephaly, and endocrine dysfunction
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
Short-rib thoracic dysplasia 10 with or without polydactyly
Short-rib thoracic dysplasia 13 with or without polydactyly
Short-rib thoracic dysplasia 14 with polydactyly
Short-rib thoracic dysplasia 15 with polydactyly
Short-rib thoracic dysplasia 16 with or without polydactyly
Short-rib thoracic dysplasia 18 with polydactyly
Short-rib thoracic dysplasia 19 with or without polydactyly
Short-rib thoracic dysplasia 20 with polydactyly
Short-rib thoracic dysplasia 21 without polydactyly
Short-rib thoracic dysplasia 6 with or without polydactyly
Short-rib thoracic dysplasia 7 with or without polydactyly
Sialic acid storage disease, severe infantile type
Sialidosis type 2
Sialuria
Silver-Russell syndrome 1
Silver-Russell syndrome 3
Skeletal dysplasia, mild, with joint laxity and advanced bone age
Smith-McCort dysplasia 1
Smith-McCort dysplasia 2
Sodium serum level quantitative trait locus 1
Spinal muscular atrophy with congenital bone fractures 1
Spinal muscular atrophy with congenital bone fractures 2
Sponastrime dysplasia
Spondylo-megaepiphyseal-metaphyseal dysplasia
Spondylo-ocular syndrome
Spondylocarpotarsal synostosis syndrome
Spondylocostal dysostosis 1, autosomal recessive
Spondylocostal dysostosis 2, autosomal recessive
Spondylocostal dysostosis 3, autosomal recessive
Spondylocostal dysostosis 4, autosomal recessive
Spondylocostal dysostosis 5
Spondylocostal dysostosis 6, autosomal recessive
Spondyloenchondrodysplasia with immune dysregulation
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Spondyloepimetaphyseal dysplasia with joint laxity, type 3
Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal dysplasia, Bieganski type
Spondyloepimetaphyseal dysplasia, Genevieve type
Spondyloepimetaphyseal dysplasia, Maroteaux type
Spondyloepimetaphyseal dysplasia, Missouri type
Spondyloepimetaphyseal dysplasia, PAPSS2 type
Spondyloepimetaphyseal dysplasia, Shohat type
Spondyloepimetaphyseal dysplasia, Strudwick type
Spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia tarda, X-linked
Spondyloepiphyseal dysplasia with congenital joint dislocations
Spondyloepiphyseal dysplasia with metatarsal shortening
Spondyloepiphyseal dysplasia, Kimberley type
Spondyloepiphyseal dysplasia, Stanescu type
Spondyloepiphyseal dysplasia, kondo-fu type
Spondylometaphyseal dysplasia - Sutcliffe type
Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Sedaghatian type
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Spondyloperipheral dysplasia
Stapes ankylosis with broad thumbs and toes
Steel syndrome
Stickler syndrome type 1
Stickler syndrome type 2
Stickler syndrome, type 4
Stickler syndrome, type 5
Stickler syndrome, type I, nonsyndromic ocular
Stiff skin syndrome
Striatonigral degeneration, childhood-onset
Stüve-Wiedemann syndrome 1
Symphalangism, proximal, 1B
Symphalangism-brachydactyly syndrome
Syndactyly type 3
TMEM165-congenital disorder of glycosylation
Tall stature-scoliosis-macrodactyly of the great toes syndrome
Tarsal-carpal coalition syndrome
Tatton-Brown-Rahman overgrowth syndrome
Terminal osseous dysplasia-pigmentary defects syndrome
Tetraamelia syndrome 1
Tetraamelia syndrome 2
Tetralogy of Fallot
Thanatophoric dysplasia type 1
Thanatophoric dysplasia, type 2
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Trigonocephaly 1
Tumoral calcinosis, hyperphosphatemic, familial, 1
Tumoral calcinosis, hyperphosphatemic, familial, 2
Tumoral calcinosis, hyperphosphatemic, familial, 3
Turnpenny-fry syndrome
Type 2 diabetes mellitus
Type A2 brachydactyly
Tyrosinemia type I
Ulnar-mammary syndrome
Van Maldergem syndrome 2
Vitamin D hydroxylation-deficient rickets, type 1B
Vitamin D-dependent rickets type II with alopecia
Vitamin D-dependent rickets, type 1A
Vitreoretinopathy with phalangeal epiphyseal dysplasia
Warburg-cinotti syndrome
Weill-Marchesani syndrome 1
Weill-Marchesani syndrome 2, dominant
Weill-Marchesani syndrome 3
Wiedemann-Steiner syndrome
Wilms tumor 1
Winchester syndrome
Wolcott-Rallison dysplasia
Worth disease
X-linked recessive nephrolithiasis with renal failure
X-linked spondyloepimetaphyseal dysplasia
Yunis-Varon syndrome
ACAN (15q26.1);
ACP5 (19p13.2);
ACVR1 (2q24.1);
ADAMTS10 (19p13.2);
ADAMTS17 (15q26.3)
more...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
The Invitae Skeletal Disorders Panel analyzes genes that are associated …
Ordering Information
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Health Care Provider
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89100
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Tests can be ordered online or by submitting a paper requisition form.
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Clinical Testing/Confirmation of Mutations Identified Previously
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
Test strategy:
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Full gene sequencing and deletion/duplication analysis of targeted gene
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
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Conditions
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Total conditions: 624
Condition/Phenotype
Identifier
Test Targets
Genes
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Total genes: 349
Gene
Associated Condition
Germline or Somatic
Allele (Lab-provided)
Variant in NCBI
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Pre-symptomatic;
Therapeutic management
Target population:
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The Invitae Skeletal Disorders Panel analyzes genes that are associated with conditions affecting the skeletal system. These are genetically heterogeneous disorders characterized by abnormal bone or cartilage development or growth. The genetic heterogeneity associated with these skeletal conditions can make it difficult to use phenotype as the sole criterion to …
The Invitae Skeletal Disorders Panel analyzes genes that are associated with conditions affecting the skeletal system. These are genetically heterogeneous disorders characterized by abnormal bone or cartilage development or growth. The genetic heterogeneity associated with these skeletal conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Some genes in this test may also be associated with non-skeletal disorders, which are not included in the list of disorders tested.
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Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Invitae's variant interpretation methodology adheres closely to ACMG guidelines. Observed variants are interpreted according to the framework of evidence recommended by these guidelines, based on evidence in peer-reviewed literature and Invitae's database. Our clinical report documents the evidence and logic supporting each variant interpretation to make it easy for the …
Invitae's variant interpretation methodology adheres closely to ACMG guidelines. Observed variants are interpreted according to the framework of evidence recommended by these guidelines, based on evidence in peer-reviewed literature and Invitae's database. Our clinical report documents the evidence and logic supporting each variant interpretation to make it easy for the ordering clinician to evaluate our conclusions.
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Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Will the lab re-contact the ordering physician if variant interpretation changes?
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Recommended fields not provided:
Clinical validity,
Clinical utility,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods
Availability:
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Tests performed
Analytical Validity:
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Our analytic validation study has demonstrated >99.9% sensitivity and specificity for tested mutations.
Assay limitations:
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Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS). Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic …
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below. In addition, the analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.
Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
NYS CLEP Approval:
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Number:
8884
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