Skeletal Dysplasia: Sequencing Panel

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation, Risk Assessment

364 conditions tested. Click Indication tab for more information.

• Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
• ADULT syndrome
• Acheiropodia (ACHP)
• Achondrogenesis, type IA (ACG1A)
• Achondrogenesis, type IB (ACG1B)
• Achondrogenesis, type II (ACG2)
• Achondroplasia (ACH)
• Acrocallosal syndrome, Schinzel type (ACLS)
• Acrocapitofemoral dysplasia (ACFD)
• Acrocephalosyndactyly type I
• Acrodysostosis 1 with or without hormone resistance (ACRDYS1), lab preferred: Acrodysostosis
• Acromesomelic dysplasia Hunter Thompson type (AMDH)
• Acromesomelic dysplasia Maroteaux type (AMDM)
• Acromesomelic dysplasia, Demirhan type (AMDD), lab preferred: Chondrodysplasia acromesomelic with genital anomalies
• Acromicric dysplasia (ACMICD)
• Adams-Oliver syndrome 1 (AOS1)
• Adult hypophosphatasia
• Alagille syndrome 2 (ALGS2)
• Amelogenesis imperfecta, type IV (AI4), lab preferred: AMELOGENESIS IMPERFECTA, TYPE IV
• Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (ABS2), lab preferred: Antley-Bixler syndrome
• Arterial calcification of infancy (GACI1)
• Asphyxiating thoracic dystrophy 2 (SRTD2)
• Atelosteogenesis type 1 (AO1)
• Atelosteogenesis type 2 (AO2)
• Atelosteogenesis type 3 (AO3)
• Atrial myxoma, familial
• Autosomal dominant hypophosphatemic rickets (ADHR)
• Autosomal recessive cutis laxa type 2B (ARCL2B)
• Autosomal recessive cutis laxa type 3B (ARCL3B)
• Autosomal recessive hypophosphatemic bone disease (HHRH)
• Autosomal recessive hypophosphatemic vitamin D refractory rickets (ARHR1)
• Avascular necrosis of the head of femur (ANFH1) (ANFH)
• Baller-Gerold syndrome (BGS)
• Bardet-Biedl syndrome (BBS) (BBS1)
• Beckwith-Wiedemann syndrome (BWS)
• Benign scapuloperoneal muscular dystrophy with cardiomyopathy (EDMD2)
• Bent bone dysplasia syndrome (BBDS)
• Bladder cancer, somatic, lab preferred: Malignant tumor of urinary bladder
• Bone mineral density quantitative trait locus 1 (BMND1)
• Boomerang dysplasia (BOOMD)
• Brachydactyly type B2 (BDB2)
• Brachydactyly type E1 (BDE1)
• Brachydactyly type E2 (BDE2)
• Brachydactyly, type a1, c (BDA1C), lab preferred: BRACHYDACTYLY, TYPE A1, C
• Brachydactyly-Mental Retardation syndrome (BDMR)
• Brachydactyly-syndactyly syndrome (BDSD)
• Brachyrachia (short spine dysplasia) (BCYM3)
• Bruck syndrome 2 (BRKS2)
• COACH syndrome
• Camptodactyly, tall stature, and hearing loss syndrome (CATSHLS)
• Camptomelic dysplasia
• Carcinoma of cervix
• Carcinoma of colon (CRC)
• Cardiac valvular dysplasia, X-linked (CVD1)
• Carney complex, type 1 (CNC1)
• Charcot-Marie-Tooth disease type 2B1 (CMT2B1)
• Charcot-Marie-Tooth disease type 2C (HMSN2C)
• Childhood hypophosphatasia
• Chondrocalcinosis 2 (CCAL2)
• Chondrodysplasia Blomstrand type (BOCD)
• Chondroectodermal dysplasia (EVC)
• Chondrosarcoma
• Cleidocranial dysostosis (CCD)
• Cole disease (COLED)
• Congenital absence of salivary gland (ALSG)
• Congenital muscular dystrophy, LMNA-related (MDCL)
• Cornelia de Lange syndrome 1 (CDLS1)
• Cousin syndrome
• Coxa plana (LCPD)
• Craniodiaphyseal dysplasia, autosomal dominant (CDD)
• Cranioectodermal dysplasia 1 (CED1)
• Cranioectodermal dysplasia 2 (CED2)
• Craniometaphyseal dysplasia, autosomal dominant (CMDD)
• Crouzon syndrome
• Crouzon syndrome with acanthosis nigricans (CAN)
• Curry-Hall syndrome (WAD)
• Cushing's syndrome (AIMAH1) (AIMAH)
• Cutis Gyrata syndrome of Beare and Stevenson (BSTVS)
• Cutis laxa with osteodystrophy (ARCL2A)
• Cystic fibrosis (CF)
• Czech dysplasia metatarsal type
• Deafness, autosomal dominant 13 (DFNA13)
• Deafness, autosomal recessive 53 (DFNB53)
• Dent disease 1 (NPHL2)
• Dermatofibrosis lenticularis disseminata (BOS)
• Desbuquois dysplasia 1 (DBQD1), lab preferred: Desbuquois syndrome
• Desmosterolosis
• Diaphyseal dysplasia (CAEND)
• Diastrophic dysplasia (DTD)
• Digital arthropathy-brachydactyly, familial (FDAB)
• Digital clubbing, isolated congenital
• Dilated cardiomyopathy 1A (CMD1A)
• Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, lab preferred: Malouf syndrome
• Distal spinal muscular atrophy, congenital nonprogressive (HMN8)
• Drash syndrome (DDS)
• Duane-radial ray syndrome (DRRS)
• Dyggve-Melchior-Clausen syndrome (DMC)
• EEM syndrome (EEMS)
• Ectopia lentis, isolated, autosomal dominant (ECTOL1) (FEL)
• Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
• Ehlers-Danlos syndrome progeroid type (EDSSPD1)
• Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form (EDSCV)
• Ehlers-Danlos syndrome, classic type (EDSCL1), lab preferred: Ehlers-Danlos syndrome, type 1 (cEDS)
• Ehlers-Danlos syndrome, musculocontractural type (ATCS)
• Ehlers-Danlos syndrome, procollagen proteinase deficient (EDSARTH1)
• Ehlers-Danlos syndrome, progeroid type, 2 (EDSSPD2)
• Eiken skeletal dysplasia
• Endocrine-cerebroosteodysplasia (ECO)
• Epidermal nevus
• Epiphyseal dysplasia, multiple, with myopia and conductive deafness (EDMMD)
• Essential thrombocythemia (THCYT1)
• Exudative vitreoretinopathy 4 (EVR4)
• FG syndrome 2 (FGS2)
• Failure of tooth eruption, primary (PFE)
• Familial X-linked hypophosphatemic vitamin D refractory rickets (XLHR)
• Familial benign pemphigus (BCPM)
• Familial expansile osteolysis (FEO) (HEPOD)
• Familial partial lipodystrophy 2 (FPLD2)
• Feingold syndrome 1 (FGLDS1), lab preferred: Feingold syndrome
• Fibrochondrogenesis (FBCG1)
• Fibrochondrogenesis 2 (FBCG2)
• Fibular hypoplasia and complex brachydactyly
• Frank Ter Haar syndrome (FTHS)
• Frontometaphyseal dysplasia (FMD1)
• Fuhrmann syndrome
• Geleophysic dysplasia 2 (GPHYSD2)
• Geroderma osteodysplastica (GO)
• Ghosal syndrome (GHDD)
• Gnathodiaphyseal dysplasia (GDD), lab preferred: Osteogenesis imperfecta Levin type
• Grebe syndrome (AMDG)
• Greig cephalopolysyndactyly syndrome (GCPS)
• Hajdu-Cheney syndrome (HJCYS)
• Hamartoma of hypothalamus
• Hay-Wells syndrome of ectodermal dysplasia (AEC)
• Heart-hand syndrome, Slovenian type
• Hemochromatosis type 1 (HFE1), lab preferred: Hereditary hemochromatosis
• Hereditary mixed polyposis syndrome 1 (HMPS1)
• Holoprosencephaly 3 (HPE3)
• Holt-Oram syndrome (HOS)
• Hutchinson-Gilford syndrome (HGPS)
• Hydrolethalus syndrome 2 (HLS2)
• Hyperphosphatasemia tarda (VBCH)
• Hyperphosphatasemia with bone disease (PDB5)
• Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)
• Hypocalcemia, autosomal dominant 1 (HYPOC1)
• Hypocalciuric hypercalcemia, familial, type 1 (HHC1), lab preferred: Familial benign hypercalcemia
• Hypochondroplasia (HCH)
• Hypomyelination, global cerebral (EIEE39)
• Hypoparathyroidism retardation dysmorphism syndrome (HRDS)
• Hypophosphatemic rickets, X-linked recessive, lab preferred: X-linked recessive hypophosphatemic rickets
• Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2)
• IVIC syndrome (OORS)
• Infantile cortical hyperostosis
• Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
• Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)
• Jackson-Weiss syndrome (JWS)
• Joubert syndrome 18 (JBTS18)
• Joubert syndrome 2 (JBTS2)
• Joubert syndrome 5 (JBTS5)
• Joubert syndrome 6 (JBTS6)
• Joubert syndrome 7 (JBTS7)
• Joubert syndrome 9 (JBTS9)
• Juvenile macular degeneration and hypotrichosis (HJMD)
• Juvenile myelomonocytic leukemia (JMML)
• Kallmann syndrome 2 (KAL2)
• Kenny-Caffey syndrome type 1 (KCS1)
• Keutel syndrome (KTLS)
• Kniest dysplasia
• LEOPARD syndrome 1 (LPRD1)
• Langer mesomelic dysplasia syndrome (LMD)
• Larsen syndrome, dominant type (LRS)
• Leber congenital amaurosis 10 (LCA10)
• Leri Weill dyschondrosteosis (LWD)
• Lethal Kniest-like syndrome (DDSH)
• Lethal tight skin contracture syndrome
• Leukocyte adhesion deficiency, type III (LAD3), lab preferred: LEUKOCYTE ADHESION DEFICIENCY, TYPE III
• Levy-Hollister syndrome (LADD), lab preferred: Ladd syndrome
• Liebenberg syndrome (LBNBG)
• Limb deficiencies distal with micrognathia (SHFM3)
• Limb-girdle muscular dystrophy, type 1B (LGMD1B)
• Limb-girdle muscular dystrophy, type 2L (LGMDR12)
• Limb-mammary syndrome (LMS)
• MASS syndrome (OCTD)
• Malignant tumor of testis (TGCT)
• Mandibuloacral dysostosis (MADA)
• Mandibuloacral dysplasia with type B lipodystrophy (MADB)
• Marfan syndrome (MFS), lab preferred: Marfan's syndrome
• Marshall syndrome (MRSHS)
• McCune-Albright syndrome (MAS)
• Meckel syndrome type 1 (MKS1)
• Meckel syndrome type 2 (MKS2)
• Meckel syndrome type 3 (MKS3)
• Meckel syndrome type 4 (MKS4)
• Meckel syndrome type 5 (MKS5)
• Meckel syndrome type 6 (MKS6), lab preferred: Meckel syndrome, type 6
• Melnick-Needles syndrome (MNS)
• Melorheostosis (MEL)
• Metachondromatosis (METCDS)
• Metaphyseal anadysplasia 2 (MANDP2)
• Metaphyseal chondrodysplasia, Jansen type (MCDJ)
• Metaphyseal chondrodysplasia, Schmid type (MCDS)
• Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB)
• Metatrophic dysplasia
• Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2)
• Microphthalmia, isolated, with coloboma 5 (MCOPCB5)
• Miyoshi muscular dystrophy 3 (MMD3)
• Muenke syndrome (MNKES)
• Multicentric osteolysis nephropathy (MCTO)
• Multicentric osteolysis, nodulosis and arthropathy (MONA), lab preferred: Torg Winchester syndrome
• Multiple congenital exostosis (EXT1) (EXT)
• Multiple epiphyseal dysplasia 1 (EDM1), lab preferred: Epiphyseal dysplasia, multiple, 1, mild
• Multiple epiphyseal dysplasia 2 (EDM2)
• Multiple epiphyseal dysplasia 3 (EDM3)
• Multiple epiphyseal dysplasia 4 (EDM4)
• Multiple epiphyseal dysplasia 5 (EDM5)
• Multiple epiphyseal dysplasia 6 (EDM6)
• Multiple exostoses type 2 (EXT2)
• Multiple synostoses syndrome 2 (SYNS2)
• Neonatal severe hyperparathyroidism (NSHPT)
• Neoplasm of stomach
• Nephronophthisis 11 (NPHP11)
• Noonan syndrome 1 (NS1)
• Omodysplasia 1 (OMOD1)
• Orofacial-digital syndrome IV (OFD4)
• Ossification of the posterior longitudinal ligament of the spine (OPLL)
• Osteoarthritis of hip (OS5)
• Osteoarthritis with mild chondrodysplasia (OSCDP)
• Osteogenesis imperfecta type 10 (OI10)
• Osteogenesis imperfecta type 12 (OI12)
• Osteogenesis imperfecta type 5 (OI5)
• Osteogenesis imperfecta type 7 (OI7)
• Osteogenesis imperfecta type 8 (OI8)
• Osteogenesis imperfecta type 9 (OI9)
• Osteogenesis imperfecta type I (OI1)
• Osteogenesis imperfecta type III (OI3)
• Osteogenesis imperfecta with normal sclerae, dominant form (OI4)
• Osteogenesis imperfecta, recessive perinatal lethal (OI2) (OI2A)
• Osteogenesis imperfecta, type XI (OI11), lab preferred: Osteogenesis imperfecta type 6 (OI6)
• Osteoglophonic dysplasia (OGD)
• Osteopetrosis autosomal dominant type 1 (OPTA1)
• Osteopetrosis autosomal dominant type 2 (OPTA2)
• Osteopetrosis autosomal recessive 1 (OPTB1)
• Osteopetrosis autosomal recessive 2 (OPTB2)
• Osteopetrosis autosomal recessive 4 (OPTB4)
• Osteopetrosis autosomal recessive 7 (OPTB7)
• Osteopetrosis, autosomal recessive 5 (OPTB5), lab preferred: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5
• Osteoporosis with pseudoglioma (OPPG)
• Oto-palato-digital syndrome, type I (OPD1)
• Oto-palato-digital syndrome, type II (OPD2)
• Otospondylomegaepiphyseal dysplasia (OSMEDB) (OSMED)
• Pachydermoperiostosis syndrome (PHOAR1)
• Paget disease of bone 2, early-onset (PDB2) (PDB)
• Pallister-Hall syndrome (PHS)
• Papillary thyroid carcinoma
• Parastremmatic dwarfism
• Periventricular nodular heterotopia 1 (PVNH1), lab preferred: X-linked periventricular heterotopia (PVNH4)
• Pfeiffer syndrome (ACS5)
• Pigmented nodular adrenocortical disease, primary, 1 (PPNAD1)
• Platyspondylic lethal skeletal dysplasia Torrance type (PLSDT)
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL1) (PLOSL)
• Polydactyly, preaxial II (PPD2)
• Postaxial polydactyly (PAPA1), lab preferred: Postaxial polydactyly type A1
• Postmenopausal osteoporosis, lab preferred: Osteoporosis
• Preaxial polydactyly 4 (PPD4)
• Preterm premature rupture of membranes (PPROM)
• Progressive osseous heteroplasia (POH)
• Progressive pseudorheumatoid dysplasia (PPAC)
• Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
• Proximal symphalangism (SYM1A), lab preferred: Cushing's symphalangism
• Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (PSACH)
• Pseudohypoparathyroidism (PHP1A), lab preferred: Pseudohypoparathyroidism type 1A
• Pseudohypoparathyroidism type 1B (PHP1B)
• Pseudohypoparathyroidism type 1C (PHP1C)
• Pseudopseudohypoparathyroidism (PPHP)
• Pyknodysostosis
• Raine syndrome (RNS)
• Rapadilino syndrome
• Rapp-Hodgkin ectodermal dysplasia syndrome (RHS)
• Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia (SRTD9)
• Roberts-SC phocomelia syndrome (RBS)
• Robinow syndrome (DRS1) (DRS)
• Robinow syndrome, autosomal recessive (RRS)
• Rothmund-Thomson syndrome (RTS)
• SCHIZENCEPHALY
• Saethre-Chotzen syndrome (SCS)
• Scaphocephaly, maxillary retrusion, and mental retardation
• Scapuloperoneal spinal muscular atrophy (SPSMA)
• Schimke immunoosseous dysplasia (SIOD)
• Schneckenbecken dysplasia (SHNKND)
• Schwartz Jampel syndrome type 1 (SJS1)
• Sclerosteosis 1 (SOST1), lab preferred: Sclerosteosis
• Sclerosteosis 2 (SOST2)
• Senior-Loken syndrome 6 (SLSN6)
• Short rib polydactyly syndrome 5 (SRTD7)
• Short rib-polydactyly syndrome, Majewski type (SRTD6)
• Short stature, idiopathic, X-linked (ISS)
• Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3)
• Single median maxillary incisor (SMMCI), lab preferred: Single upper central incisor
• Smith-McCort dysplasia 1 (SMC1), lab preferred: Smith McCort dysplasia
• Sodium serum level quantitative trait locus 1 (SSQTL1)
• Somatotroph adenoma (PITA1)
• Split-hand/foot malformation 4 (SHFM4)
• Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD)
• Spondylocarpotarsal synostosis syndrome (SCT)
• Spondylocheirodysplasia, Ehlers-Danlos syndrome-like (EDSSPD3) (SCD-EDS)
• Spondyloepimetaphyseal dysplasia Matrilin-3 related, lab preferred: Spondyloepimetaphyseal dysplasia, MATN3-related
• Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL1)
• Spondyloepimetaphyseal dysplasia with multiple dislocations (SEMDJL2)
• Spondyloepimetaphyseal dysplasia, Missouri type
• Spondyloepimetaphyseal dysplasia, pakistani type (BCYM4)
• Spondyloepiphyseal dysplasia (SEDC), lab preferred: Spondyloepiphyseal dysplasia congenita
• Spondyloepiphyseal dysplasia Maroteaux type
• Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD)
• Spondylometaepiphyseal dysplasia short limb-hand type (SMED-SL)
• Spondylometaphyseal dysplasia (SEMDSTWK), lab preferred: Spondyloepimetaphyseal dysplasia Strudwick type
• Spondylometaphyseal dysplasia, Kozlowski type (SMDK)
• Spondyloperipheral dysplasia
• Stapes ankylosis with broad thumb and toes
• Stickler syndrome type 1 (STL1)
• Stickler syndrome, type 2 (STL2)
• Stickler syndrome, type 3 (OSMEDA) (STL3)
• Stickler syndrome, type 4 (STL4)
• Stickler syndrome, type 5 (STL5)
• Stickler syndrome, type I, nonsyndromic ocular, lab preferred: STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
• Stiff skin syndrome (SSKS)
• Stuve-Wiedemann syndrome (STWS)
• Symphalangism, proximal, 1b (SYM1B)
• Symphalangism-brachydactyly syndrome (SYNS1)
• Syndactyly Cenani Lenz type (CLSS)
• Syndactyly, type IV (SDTY4), lab preferred: SYNDACTYLY, TYPE IV
• Syndactyly, type V (SDTY5), lab preferred: SYNDACTYLY, TYPE V
• Synpolydactyly 1, lab preferred: SYNPOLYDACTYLY 1
• Synpolydactyly 2 (SPD2)
• Talipes equinovarus (CCF)
• Tarsal carpal coalition syndrome (TCC)
• Temtamy preaxial brachydactyly syndrome (TPBS)
• Terminal osseous dysplasia (TOD)
• Tetraamelia, autosomal recessive (TETAMS1)
• Thanatophoric dysplasia type 1 (TD1)
• Thanatophoric dysplasia, type 2 (TD2)
• Three M syndrome 1 (3M1)
• Three M syndrome 2 (3M2)
• Thromboxane synthetase deficiency (BDPLT14)
• Townes-Brocks syndrome 1 (TBS1), lab preferred: Townes syndrome (TBS)
• Tricho-dento-osseous syndrome (TDO)
• Trichorhinophalangeal dysplasia type I (TRPS1)
• Trichorhinophalangeal syndrome type 3 (TRPS3)
• Trigonocephaly 1 (TRIGNO1), lab preferred: Interfrontal craniofaciosynostosis
• Tumoral calcinosis, familial, hyperphosphatemic (HFTC1) (HFTC)
• Type A1 brachydactyly (BDA1), lab preferred: Brachydactyly type A1
• Type A2 brachydactyly (BDA2), lab preferred: Brachydactyly type A2
• Type B brachydactyly (BDB1), lab preferred: Brachydactyly type B1
• Type C brachydactyly (BDC), lab preferred: Brachydactyly type C
• Type D brachydactyly (BDD), lab preferred: Brachydactyly type D
• Ulna and fibula absence of with severe limb deficiency
• Ulnar-mammary syndrome (UMS)
• VATER association
• Van Buchem disease type 2 (VBCH2)
• Weill-Marchesani syndrome 2 (WMS2)
• Weissenbacher-Zweymuller syndrome (WZS)
• Wolcott-Rallison dysplasia
• Worth disease
• Wrinkly skin syndrome (WSS)
• X-linked recessive nephrolithiasis with renal failure (XRN)

Molecular Genetics

CSequence analysis of the entire coding region

Next-Generation (NGS)/Massively parallel sequencing (MPS)