Skeletal Dysplasia: Sequencing Panel

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

363 conditions tested. Click Indication tab for more information.

• Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
• ADULT syndrome
• Acheiropodia (ACHP)
• Achondrogenesis type II (ACG2), lab preferred: Achondrogenesis, type II
• Achondrogenesis, type IA (ACG1A)
• Achondrogenesis, type IB (ACG1B)
• Achondroplasia (ACH)
• Acrocallosal syndrome (ACLS), lab preferred: Acrocallosal syndrome, Schinzel type
• Acrocapitofemoral dysplasia (ACFD)
• Acrocephalosyndactyly type I (ACS1)
• Acrodysostosis 1 with or without hormone resistance (ACRDYS1), lab preferred: Acrodysostosis
• Acromesomelic dysplasia, Demirhan type (AMDD), lab preferred: Chondrodysplasia acromesomelic with genital anomalies
• Acromesomelic dysplasia, Hunter-Thompson type (AMDH), lab preferred: Acromesomelic dysplasia Hunter Thompson type
• Acromesomelic dysplasia, Maroteaux type, lab preferred: Acromesomelic dysplasia Maroteaux type
• Acromicric dysplasia (ACMICD)
• Adams-Oliver syndrome 1 (AOS1)
• Adult hypophosphatasia (HPPA)
• 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, generalized, of infancy, 1 (GACI1), lab preferred: Arterial calcification of infancy
• Asphyxiating thoracic dystrophy 2 (SRTD2)
• Atelosteogenesis type 1 (AO1)
• Atelosteogenesis type II (AO2), lab preferred: Atelosteogenesis type 2
• Atelosteogenesis type III, lab preferred: Atelosteogenesis type 3
• Autosomal dominant hypophosphatemic rickets (ADHR)
• Autosomal dominant osteopetrosis 1 (OPTA1), lab preferred: Osteopetrosis autosomal dominant type 1
• Autosomal dominant osteopetrosis 2, lab preferred: Osteopetrosis autosomal dominant type 2
• Autosomal recessive Kenny-Caffey syndrome (KCS1), lab preferred: Kenny-Caffey syndrome type 1
• 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)
• Autosomal recessive omodysplasia, lab preferred: Omodysplasia 1
• Autosomal recessive osteopetrosis 1, lab preferred: Osteopetrosis autosomal recessive 1
• Autosomal recessive osteopetrosis 2, lab preferred: Osteopetrosis autosomal recessive 2
• Autosomal recessive osteopetrosis 4, lab preferred: Osteopetrosis autosomal recessive 4
• Autosomal recessive osteopetrosis 7, lab preferred: Osteopetrosis autosomal recessive 7
• Avascular necrosis of the head of femur (ANFH1) (ANFH)
• Baller-Gerold syndrome (BGS)
• Bardet-Biedl syndrome (BBS) (BBS1)
• Beare-Stevenson cutis gyrata syndrome (BSTVS), lab preferred: Cutis Gyrata syndrome of Beare and Stevenson
• Beckwith-Wiedemann syndrome (BWS)
• Bent bone dysplasia syndrome (BBDS)
• Bone mineral density quantitative trait locus 1 (BMND1)
• Boomerang dysplasia (BOOMD)
• Brachydactyly type A1, lab preferred: Type A1 brachydactyly
• Brachydactyly type A2 (BDA2), lab preferred: Type A2 brachydactyly
• Brachydactyly type B1 (BDB1), lab preferred: Type B brachydactyly
• Brachydactyly type B2 (BDB2)
• Brachydactyly type C (BDC), lab preferred: Type C brachydactyly
• Brachydactyly type D, lab preferred: Type D brachydactyly
• Brachydactyly type E1 (BDE1)
• Brachydactyly type E2 (BDE2)
• Brachydactyly, type a1, c (BDA1C), lab preferred: BRACHYDACTYLY, TYPE A1, C
• Brachydactyly-syndactyly syndrome (BDSD)
• Brachyrachia (short spine dysplasia) (BCYM3)
• Bruck syndrome 2 (BRKS2)
• Camptodactyly-tall stature-scoliosis-hearing loss syndrome, lab preferred: Camptodactyly, tall stature, and hearing loss syndrome
• Camptomelic dysplasia
• Cancer of cervix, lab preferred: Carcinoma of cervix
• Carcinoma of colon (CRC)
• Cardiac valvular dysplasia, X-linked (CVD1), lab preferred: Ehlers-Danlos syndrome, type 5
• Carney complex, type 1 (CNC1)
• Cenani-Lenz syndactyly syndrome, lab preferred: Syndactyly Cenani Lenz type
• Charcot-Marie-Tooth disease axonal type 2C (HMSN2C), lab preferred: Charcot-Marie-Tooth disease type 2C
• Charcot-Marie-Tooth disease type 2B1 (CMT2B1)
• Childhood hypophosphatasia (HPPC)
• Chondrocalcinosis 2, lab preferred: Familial calcium pyrophosphate deposition
• Chondrodysplasia Blomstrand type (BOCD)
• Chondrosarcoma
• Chromosome 2q37 deletion syndrome (BDMR), lab preferred: Brachydactyly-Mental Retardation syndrome
• Cleidocranial dysostosis (CCD)
• Clubfoot, lab preferred: Talipes equinovarus
• Cole disease (COLED)
• Congenital absence of salivary gland (ALSG)
• Congenital hypotrichosis with juvenile macular dystrophy (HJMD), lab preferred: Juvenile macular degeneration and hypotrichosis
• Congenital muscular dystrophy, LMNA-related (MDCL)
• Cornelia de Lange syndrome 1 (CDLS1)
• 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 syndrome, lab preferred: Cushing's syndrome (AIMAH)
• Cutis laxa with osteodystrophy (ARCL2A)
• Cystic fibrosis (CF)
• Czech dysplasia, metatarsal type, lab preferred: Czech dysplasia metatarsal type
• Deafness, autosomal dominant 13 (DFNA13)
• Deafness, autosomal recessive 53 (DFNB53)
• Dent disease type 1, lab preferred: Dent disease 1
• 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 (DIGC)
• 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, cardiac valvular type (EDSCV), lab preferred: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
• Ehlers-Danlos syndrome, classic type (cEDS), lab preferred: Ehlers-Danlos syndrome, type 1 (EDSCL1)
• Ehlers-Danlos syndrome, musculocontractural type (EDSMC) (ATCS)
• Ehlers-Danlos syndrome, procollagen proteinase deficient (EDSARTH1)
• Ehlers-Danlos syndrome, progeroid type, 2 (EDSSPD2)
• Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1), lab preferred: Ehlers-Danlos syndrome progeroid type
• Eiken skeletal dysplasia
• Ellis-van Creveld syndrome (EVC), lab preferred: Chondroectodermal dysplasia
• Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2), lab preferred: Benign scapuloperoneal muscular dystrophy with cardiomyopathy
• Endocrine-cerebroosteodysplasia (ECO)
• Epidermal nevus
• Epiphyseal dysplasia, multiple, 2 (EDM2), lab preferred: Multiple epiphyseal dysplasia 2
• Epiphyseal dysplasia, multiple, 3 (EDM3), lab preferred: Multiple epiphyseal dysplasia 3
• Epiphyseal dysplasia, multiple, with myopia and conductive deafness (EDMMD)
• Exudative vitreoretinopathy 4 (EVR4)
• FG syndrome 2 (FGS2)
• Failure of tooth eruption, primary (PFE)
• Familial X-linked hypophosphatemic vitamin D refractory rickets (XLHR)
• Familial atrial myxoma, lab preferred: Atrial myxoma, familial
• Familial benign pemphigus (BCPM)
• Familial expansile osteolysis (FEO) (HEPOD)
• Familial partial lipodystrophy 2 (FPLD2)
• Feingold syndrome 1 (FGLDS1), lab preferred: Feingold syndrome
• Fibrochondrogenesis 1 (FBCG1), lab preferred: Fibrochondrogenesis
• Fibrochondrogenesis 2 (FBCG2)
• Fibular hypoplasia and complex brachydactyly (DUPANS)
• Frank-Ter Haar syndrome, lab preferred: Frank Ter Haar syndrome
• Frontometaphyseal dysplasia 1 (FMD1), lab preferred: Frontometaphyseal dysplasia
• Fuhrmann syndrome
• Geleophysic dysplasia 2 (GPHYSD2)
• Geroderma osteodysplastica (GO)
• Ghosal hematodiaphyseal dysplasia, lab preferred: Ghosal syndrome
• Gnathodiaphyseal dysplasia (GDD), lab preferred: Osteogenesis imperfecta Levin type
• Grebe syndrome (AMDG)
• Greig cephalopolysyndactyly syndrome (GCPS)
• Hajdu-Cheney syndrome (HJCYS)
• Hamartoma of hypothalamus (PHLS)
• 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)
• Hyperphosphatemic familial tumoral calcinosis 1 (HFTC1), lab preferred: Tumoral calcinosis, familial, hyperphosphatemic (HFTC)
• Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 (PHOAR1), lab preferred: Pachydermoperiostosis syndrome
• Hypocalcemia, autosomal dominant 1 (HYPOC1)
• Hypocalciuric hypercalcemia, familial, type 1 (HHC1), lab preferred: Familial benign hypercalcemia
• Hypochondroplasia (HCH)
• Hypogonadotropic hypogonadism 2 with or without anosmia (HH2), lab preferred: Kallmann syndrome 2 (KAL2)
• Hypomyelination, global cerebral (DEE39)
• Hypoparathyroidism-retardation-dysmorphism syndrome (HRDS), lab preferred: Hypoparathyroidism retardation dysmorphism syndrome
• Hypophosphatemic rickets, X-linked recessive, lab preferred: X-linked recessive hypophosphatemic rickets
• Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2)
• IVIC syndrome (OORS)
• Infantile cortical hyperostosis (CAFYD)
• Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, lab preferred: 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)
• Joubert syndrome with hepatic defect (COACH1), lab preferred: COACH syndrome
• Juvenile myelomonocytic leukemia (JMML)
• Keutel syndrome (KTLS)
• Kniest dysplasia
• LEOPARD syndrome 1 (LPRD1)
• Langer mesomelic dysplasia syndrome (LMD)
• Larsen syndrome (LRS), lab preferred: Larsen syndrome, dominant type
• Leber congenital amaurosis 10 (LCA10)
• Leri-Weill dyschondrosteosis (LWD), lab preferred: Leri Weill dyschondrosteosis
• Lethal Kniest-like syndrome (DDSH)
• Lethal osteosclerotic bone dysplasia (RNS), lab preferred: Raine syndrome
• 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-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 dysplasia with type A lipodystrophy (MADA), lab preferred: Mandibuloacral dysostosis
• 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 6 (MKS6), lab preferred: Meckel syndrome, type 6
• Meckel syndrome, type 2 (MKS2), lab preferred: Meckel syndrome type 2
• Meckel syndrome, type 3 (MKS3), lab preferred: Meckel syndrome type 3
• Meckel syndrome, type 4 (MKS4), lab preferred: Meckel syndrome type 4
• Meckel syndrome, type 5 (MKS5), lab preferred: Meckel syndrome type 5
• 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 II (MOPD2), lab preferred: Microcephalic osteodysplastic primordial dwarfism type 2
• Microphthalmia, isolated, with coloboma 5 (MCOPCB5)
• Miyoshi muscular dystrophy 3 (MMD3)
• Muenke syndrome (MNKES)
• Multicentric carpo-tarsal osteolysis with or without nephropathy, lab preferred: Multicentric osteolysis nephropathy
• Multicentric osteolysis, nodulosis and arthropathy (MONA), lab preferred: Torg Winchester syndrome
• Multiple congenital exostosis (EXT) (EXT1)
• Multiple epiphyseal dysplasia 1 (EDM1), lab preferred: Epiphyseal dysplasia, multiple, 1, mild
• Multiple epiphyseal dysplasia 6 (EDM6)
• Multiple epiphyseal dysplasia type 4 (EDM4), lab preferred: Multiple epiphyseal dysplasia 4
• Multiple epiphyseal dysplasia type 5 (EDM5), lab preferred: Multiple epiphyseal dysplasia 5
• Multiple exostoses type 2 (EXT2)
• Multiple synostoses syndrome 2 (SYNS2)
• Namaqualand hip dysplasia (OSCDP), lab preferred: Osteoarthritis with mild chondrodysplasia
• Neonatal severe hyperparathyroidism (NSHPT)
• Neoplasm of stomach
• Nephronophthisis 11 (NPHP11)
• Noonan syndrome 1 (NS1)
• Orofacial-digital syndrome IV (OFD4)
• Ossification of the posterior longitudinal ligament of the spine (OPLL)
• Osteoarthritis of hip (OS5)
• 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 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, autosomal dominant (OSMEDA), lab preferred: Stickler syndrome, type 3 (STL3)
• Otospondylomegaepiphyseal dysplasia, autosomal recessive (OSMEDB), lab preferred: Otospondylomegaepiphyseal dysplasia (OSMED)
• Paget disease of bone 2, early-onset (PDB2) (PDB)
• Pallister-Hall syndrome (PHS)
• Papillary thyroid carcinoma
• Parastremmatic dwarfism
• Pelviscapular dysplasia, lab preferred: Cousin syndrome
• Periventricular nodular heterotopia 1 (PVNH1), lab preferred: X-linked periventricular heterotopia (PVNH4)
• Pfeiffer syndrome (ACS5)
• Pigmented nodular adrenocortical disease, primary, 1 (PPNAD1)
• Platyspondylic dysplasia, Torrance type (PLSDT), lab preferred: Platyspondylic lethal skeletal dysplasia Torrance type
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (PLOSL1), lab preferred: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)
• Polydactyly, preaxial II (PPD2)
• Postaxial polydactyly type A1 (PAPA1), lab preferred: Postaxial polydactyly
• Postmenopausal osteoporosis, lab preferred: Osteoporosis
• Preaxial polydactyly 4 (PPD4)
• Preterm premature rupture of membranes (PPROM)
• Progressive osseous heteroplasia (POH)
• Progressive pseudorheumatoid dysplasia (PPRD)
• Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
• Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (PSACH)
• Pseudohypoparathyroidism, lab preferred: Pseudohypoparathyroidism type 1A
• Pseudohypoparathyroidism type 1B (PHP1B)
• Pseudohypoparathyroidism type 1C (PHP1C)
• Pseudopseudohypoparathyroidism (PPHP)
• Pyknodysostosis
• Rapadilino syndrome
• Rapp-Hodgkin ectodermal dysplasia syndrome (RHS)
• Roberts-SC phocomelia syndrome (RBS)
• Robinow syndrome, autosomal dominant 1 (DRS1), lab preferred: Robinow syndrome (DRS)
• Robinow syndrome, autosomal recessive (RRS1)
• Rothmund-Thomson syndrome (RTS2)
• Saethre-Chotzen syndrome (SCS)
• Saldino-Mainzer syndrome (SRTD9), lab preferred: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
• Scaphocephaly, maxillary retrusion, and mental retardation
• Scapuloperoneal spinal muscular atrophy (SPSMA)
• Schimke immuno-osseous dysplasia (SIOD), lab preferred: Schimke immunoosseous dysplasia
• Schinzel phocomelia syndrome, lab preferred: Ulna and fibula absence of with severe limb deficiency
• Schizencephaly, lab preferred: SCHIZENCEPHALY
• Schneckenbecken dysplasia (SHNKND)
• Schwartz-Jampel syndrome, lab preferred: Schwartz Jampel syndrome type 1
• Sclerosteosis 1 (SOST1), lab preferred: Sclerosteosis
• Sclerosteosis 2 (SOST2)
• Senior-Loken syndrome 6 (SLSN6)
• Short rib-polydactyly syndrome, Majewski type (SRTD6)
• Short stature, idiopathic, X-linked (ISS)
• Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3)
• Short-rib thoracic dysplasia 7 with or without polydactyly (SRTD7), lab preferred: Short rib polydactyly syndrome 5
• Smith-McCort dysplasia 1 (SMC1), lab preferred: Smith McCort dysplasia
• Sodium serum level quantitative trait locus 1 (SSQTL1)
• Solitary median maxillary central incisor syndrome (SMMCI), lab preferred: Single upper central incisor
• Somatotroph adenoma (PITA1)
• Split hand-foot malformation 3, lab preferred: Limb deficiencies distal with micrognathia
• 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 (SEMDBCD), lab preferred: Spondyloepimetaphyseal dysplasia, MATN3-related
• Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures (SEMDJL1), lab preferred: Spondyloepimetaphyseal dysplasia with joint laxity
• Spondyloepimetaphyseal dysplasia with joint laxity, type 2 (SEMDJL2), lab preferred: Spondyloepimetaphyseal dysplasia with multiple dislocations
• Spondyloepimetaphyseal dysplasia, Missouri type (SEMDM)
• Spondyloepimetaphyseal dysplasia, pakistani type (BCYM4)
• Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome (SMED-SL), lab preferred: Spondylometaepiphyseal dysplasia short limb-hand type
• Spondyloepiphyseal dysplasia Maroteaux type
• Spondyloepiphyseal dysplasia congenita (SEDC), lab preferred: Spondyloepiphyseal dysplasia
• Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD)
• Spondylometaphyseal dysplasia, lab preferred: Spondyloepimetaphyseal dysplasia Strudwick type
• Spondylometaphyseal dysplasia, Kozlowski type (SMDK)
• Spondyloperipheral dysplasia-short ulna syndrome, lab preferred: Spondyloperipheral dysplasia
• Stapes ankylosis with broad thumb and toes
• Stickler syndrome type 1 (STL1)
• Stickler syndrome type 2 (STL2), lab preferred: Stickler syndrome, type 2
• 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)
• Stüve-Wiedemann syndrome, lab preferred: Stuve-Wiedemann syndrome
• Symphalangism, proximal, 1A (SYM1A), lab preferred: Cushing's symphalangism
• Symphalangism, proximal, 1B (SYM1B)
• Symphalangism-brachydactyly syndrome (SYNS1)
• 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)
• Tarsal-carpal coalition syndrome, lab preferred: Tarsal carpal coalition syndrome
• 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)
• Thrombocythemia 1 (THCYT1), lab preferred: Essential thrombocythemia
• 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 III (TRPS3), lab preferred: Trichorhinophalangeal syndrome type 3
• Trigonocephaly 1 (TRIGNO1), lab preferred: Interfrontal craniofaciosynostosis
• Ulnar-mammary syndrome (UMS)
• Urinary bladder cancer, lab preferred: Malignant tumor of urinary bladder
• VATER association
• Van Buchem disease type 2 (VBCH2)
• Weill-Marchesani syndrome 2 (WMS2)
• Wolcott-Rallison dysplasia
• Worth disease
• Wrinkly skin syndrome (WSS)
• X-linked recessive nephrolithiasis with renal failure (XRN)

Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: http://genetics.emory.edu/egl/tests/view.php?testid=4409

Molecular Genetics

CSequence analysis of the entire coding region

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