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GTR Home > Laboratories > HNL Genomics Connective Tissue Gene Tests

HNL Genomics Connective Tissue Gene Tests

GTR Lab ID: 243105, Last updated:2022-12-23

Personnel

  • Director: Kerry Kocher Brown, PhD, FACMG, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Medical Director
    Phone: 484-244-2900
    Fax: 484-244-2904
    Email: kerry.kocherbrown@ctgt.net
    Contact note: Associate Medical Director

Conditions and tests

  • 17q11.2 microduplication syndrome6 tests
  • 3M syndrome 13 tests
  • 3M syndrome 23 tests
  • 3M syndrome 33 tests
  • Ablepharon macrostomia syndrome3 tests
  • Achondrogenesis6 tests
  • Achondrogenesis type II12 tests
  • Achondrogenesis, type IA12 tests
  • Achondrogenesis, type IB15 tests
  • Achondroplasia15 tests
  • Acral peeling skin syndrome15 tests
  • Acrocapitofemoral dysplasia3 tests
  • Acrocephalosyndactyly type I3 tests
  • Acrofacial dysostosis Cincinnati type6 tests
  • Acromesomelic dysplasia 1, Maroteaux type3 tests
  • Acroosteolysis-keloid-like lesions-premature aging syndrome3 tests
  • Actin accumulation myopathy6 tests
  • Action myoclonus-renal failure syndrome6 tests
  • Adams-Oliver syndrome6 tests
  • Adams-Oliver syndrome 53 tests
  • Adenine phosphoribosyltransferase deficiency6 tests
  • Adult hypophosphatasia21 tests
  • Alagille syndrome due to a JAG1 point mutation3 tests
  • Alagille syndrome due to a NOTCH2 point mutation6 tests
  • Alopecia universalis congenita3 tests
  • alpha Thalassemia3 tests
  • Alport syndrome6 tests
  • Alveolar capillary dysplasia with pulmonary venous misalignment6 tests
  • Amelogenesis imperfecta6 tests
  • Amelogenesis imperfecta type 1G6 tests
  • Amyotrophic lateral sclerosis6 tests
  • Anauxetic dysplasia 112 tests
  • Andersen Tawil syndrome9 tests
  • Aneurysm-osteoarthritis syndrome24 tests
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis3 tests
  • Aortic aneurysm, familial thoracic 109 tests
  • Aortic aneurysm, familial thoracic 11, susceptibility to9 tests
  • Aortic aneurysm, familial thoracic 46 tests
  • Aortic aneurysm, familial thoracic 612 tests
  • Aortic aneurysm, familial thoracic 79 tests
  • Aortic aneurysm, familial thoracic 89 tests
  • Aortic aneurysm, familial thoracic 99 tests
  • Aortic valve disease 112 tests
  • Arginine:glycine amidinotransferase deficiency1 test
  • Arrhythmogenic right ventricular dysplasia 13 tests
  • Arrhythmogenic right ventricular dysplasia 93 tests
  • Arterial calcification of infancy3 tests
  • Arterial calcification, generalized, of infancy, 13 tests
  • Arterial tortuosity syndrome12 tests
  • Arteriohepatic dysplasia6 tests
  • Asphyxiating thoracic dystrophy 13 tests
  • Asphyxiating thoracic dystrophy 26 tests
  • Asphyxiating thoracic dystrophy 39 tests
  • Asphyxiating thoracic dystrophy 46 tests
  • Asphyxiating thoracic dystrophy 56 tests
  • Ateleiotic dwarfism3 tests
  • Atelosteogenesis type I15 tests
  • Atelosteogenesis type II15 tests
  • Atelosteogenesis type III3 tests
  • Atrial fibrillation3 tests
  • Atrial fibrillation, familial, 109 tests
  • Atrial fibrillation, familial, 126 tests
  • Atrial fibrillation, familial, 176 tests
  • Atrial fibrillation, familial, 39 tests
  • Atrial fibrillation, familial, 46 tests
  • Atrial fibrillation, familial, 99 tests
  • Atrichia with papular lesions3 tests
  • Atrioventricular block7 tests
  • Atrophia bulborum hereditaria3 tests
  • Atypical hemolytic-uremic syndrome6 tests
  • Autoimmune lymphoproliferative syndrome type 46 tests
  • Autosomal dominant Alport syndrome3 tests
  • Autosomal dominant congenital benign spinal muscular atrophy3 tests
  • Autosomal dominant distal renal tubular acidosis6 tests
  • Autosomal dominant hypocalcemia 13 tests
  • Autosomal dominant hypocalcemia 23 tests
  • Autosomal dominant isolated somatotropin deficiency3 tests
  • Autosomal dominant Kenny-Caffey syndrome6 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)12 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1F6 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1G6 tests
  • Autosomal dominant omodysplasia3 tests
  • Autosomal dominant osteopetrosis 19 tests
  • Autosomal dominant osteopetrosis 212 tests
  • Autosomal dominant polycystic kidney disease4 tests
  • Autosomal dominant polycystic liver disease3 tests
  • Autosomal dominant Robinow syndrome 13 tests
  • Autosomal dominant Robinow syndrome 23 tests
  • Autosomal dominant Robinow syndrome 33 tests
  • Autosomal dominant vitreoretinochoroidopathy3 tests
  • Autosomal recessive Alport syndrome3 tests
  • Autosomal recessive congenital ichthyosis 16 tests
  • Autosomal recessive congenital ichthyosis 106 tests
  • Autosomal recessive congenital ichthyosis 26 tests
  • Autosomal recessive congenital ichthyosis 36 tests
  • Autosomal recessive congenital ichthyosis 4A6 tests
  • Autosomal recessive congenital ichthyosis 4B6 tests
  • Autosomal recessive congenital ichthyosis 56 tests
  • Autosomal recessive congenital ichthyosis 66 tests
  • Autosomal recessive congenital ichthyosis 86 tests
  • Autosomal recessive congenital ichthyosis 96 tests
  • Autosomal recessive cutis laxa type 2B9 tests
  • Autosomal recessive distal renal tubular acidosis9 tests
  • Autosomal recessive distal spinal muscular atrophy 16 tests
  • Autosomal recessive distal spinal muscular atrophy 26 tests
  • Autosomal recessive hypophosphatemic bone disease6 tests
  • Autosomal recessive Kenny-Caffey syndrome6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2A6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2B6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2C6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2D6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2F6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2G6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2I6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2J6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2K6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2L6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2M6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2N6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2O6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2P6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2Q6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2T6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2U6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2W6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2Y6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type R186 tests
  • Autosomal recessive lower motor neuron disease with childhood onset6 tests
  • Autosomal recessive multiple pterygium syndrome6 tests
  • Autosomal recessive omodysplasia3 tests
  • Autosomal recessive osteopetrosis 112 tests
  • Autosomal recessive osteopetrosis 26 tests
  • Autosomal recessive osteopetrosis 412 tests
  • Autosomal recessive osteopetrosis 512 tests
  • Autosomal recessive osteopetrosis 612 tests
  • Autosomal recessive osteopetrosis 73 tests
  • Autosomal recessive osteopetrosis 86 tests
  • Autosomal recessive polycystic kidney disease9 tests
  • Autosomal recessive Robinow syndrome3 tests
  • Autosomal recessive spondylometaphyseal dysplasia, Megarbane type3 tests
  • Axial spondylometaphyseal dysplasia9 tests
  • Baller-Gerold syndrome3 tests
  • Bamforth-Lazarus syndrome3 tests
  • Baraitser-Winter syndrome 19 tests
  • Baraitser-winter syndrome 29 tests
  • Barber-Say syndrome3 tests
  • Bardet-Biedl syndrome 133 tests
  • Bardet-Biedl syndrome 143 tests
  • Bartsocas-Papas syndrome3 tests
  • Bartter disease type 19 tests
  • Bartter disease type 29 tests
  • Bartter disease type 33 tests
  • Bartter disease type 4a3 tests
  • Bartter disease type 4B3 tests
  • Bartter disease type 53 tests
  • Beare-Stevenson cutis gyrata syndrome3 tests
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy6 tests
  • Bernard-Soulier syndrome type C3 tests
  • Bernard-Soulier syndrome, type A3 tests
  • Bernard-Soulier syndrome, type B3 tests
  • beta Thalassemia3 tests
  • Beta-thalassemia-X-linked thrombocytopenia syndrome3 tests
  • Bethlem myopathy 16 tests
  • Bethlem myopathy 26 tests
  • Bilateral frontoparietal polymicrogyria3 tests
  • Biotinidase deficiency1 test
  • Bleeding diathesis due to thromboxane synthesis deficiency3 tests
  • Blepharocheilodontic syndrome 13 tests
  • Blepharocheilodontic syndrome 23 tests
  • Bloom syndrome2 tests
  • Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency3 tests
  • Bone mineral density quantitative trait locus 189 tests
  • Boomerang dysplasia6 tests
  • Brain small vessel disease 1 with or without ocular anomalies9 tests
  • Brittle cornea syndrome 115 tests
  • Brittle cornea syndrome 215 tests
  • Bruck syndrome 16 tests
  • Bruck syndrome 26 tests
  • Brugada syndrome9 tests
  • Brugada syndrome 115 tests
  • Brugada syndrome 212 tests
  • Brugada syndrome 39 tests
  • Brugada syndrome 49 tests
  • Brugada syndrome 53 tests
  • Brugada syndrome 66 tests
  • Brugada syndrome 73 tests
  • Brugada syndrome 86 tests
  • Brugada syndrome 96 tests
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome3 tests
  • Camptomelic dysplasia12 tests
  • Camurati-Engelmann disease, type 23 tests
  • Capillary malformation-arteriovenous malformation 16 tests
  • CARASIL syndrome6 tests
  • Cardiac arrhythmia, ankyrin-B-related6 tests
  • Cardiac channelopathy6 tests
  • Cardiac valvular dysplasia, X-linked12 tests
  • Cardiofaciocutaneous syndrome 16 tests
  • Cardiofaciocutaneous syndrome 26 tests
  • Cardiofaciocutaneous syndrome 36 tests
  • Cardiofaciocutaneous syndrome 46 tests
  • Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis3 tests
  • Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders3 tests
  • Catecholaminergic polymorphic ventricular tachycardia6 tests
  • Catel-Manzke syndrome3 tests
  • CBL-related disorder6 tests
  • CEDNIK syndrome3 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 13 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 19 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 26 tests
  • Cerebral cavernous malformation 19 tests
  • Cerebral cavernous malformation 29 tests
  • Cerebral cavernous malformation 39 tests
  • Cerebrooculofacioskeletal syndrome 13 tests
  • Cerebrooculofacioskeletal syndrome 23 tests
  • Cerebrooculofacioskeletal syndrome 33 tests
  • Cerebrooculofacioskeletal syndrome 43 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 13 tests
  • Charcot-Marie-Tooth disease9 tests
  • Charcot-Marie-Tooth disease axonal type 2C3 tests
  • Charcot-Marie-Tooth disease axonal type 2F6 tests
  • Charcot-Marie-Tooth disease axonal type 2L3 tests
  • Charcot-Marie-Tooth disease axonal type 2N8 tests
  • Charcot-Marie-Tooth disease axonal type 2O6 tests
  • Charcot-Marie-Tooth disease axonal type 2P3 tests
  • Charcot-Marie-Tooth disease axonal type 2Q6 tests
  • Charcot-Marie-Tooth disease dominant intermediate B6 tests
  • Charcot-Marie-Tooth disease dominant intermediate C3 tests
  • Charcot-Marie-Tooth disease dominant intermediate D3 tests
  • Charcot-Marie-Tooth disease dominant intermediate F6 tests
  • Charcot-Marie-Tooth disease recessive intermediate B3 tests
  • Charcot-Marie-Tooth disease recessive intermediate C3 tests
  • Charcot-Marie-Tooth disease recessive intermediate D8 tests
  • Charcot-Marie-Tooth disease type 1B3 tests
  • Charcot-Marie-Tooth disease type 1C3 tests
  • Charcot-Marie-Tooth disease type 1D6 tests
  • Charcot-Marie-Tooth disease type 1E3 tests
  • Charcot-Marie-Tooth disease type 1F3 tests
  • Charcot-Marie-Tooth disease type 2A13 tests
  • Charcot-Marie-Tooth disease type 2B13 tests
  • Charcot-Marie-Tooth disease type 2B23 tests
  • Charcot-Marie-Tooth disease type 2D6 tests
  • Charcot-Marie-Tooth disease type 2E3 tests
  • Charcot-Marie-Tooth disease type 2I3 tests
  • Charcot-Marie-Tooth disease type 2J3 tests
  • Charcot-Marie-Tooth disease type 2R3 tests
  • Charcot-Marie-Tooth disease type 4A6 tests
  • Charcot-Marie-Tooth disease type 4B13 tests
  • Charcot-Marie-Tooth disease type 4B23 tests
  • Charcot-Marie-Tooth disease type 4B33 tests
  • Charcot-Marie-Tooth disease type 4C3 tests
  • Charcot-Marie-Tooth disease type 4D3 tests
  • Charcot-Marie-Tooth disease type 4E6 tests
  • Charcot-Marie-Tooth disease type 4F3 tests
  • Charcot-Marie-Tooth disease type 4H6 tests
  • Charcot-Marie-Tooth disease type 4J6 tests
  • Charcot-Marie-Tooth disease X-linked dominant 16 tests
  • Charcot-Marie-Tooth disease X-linked dominant 63 tests
  • Charcot-Marie-Tooth disease X-linked recessive 48 tests
  • Charcot-Marie-Tooth disease X-linked recessive 53 tests
  • Charcot-marie-tooth disease, axonal, type 2DD8 tests
  • Charcot-Marie-Tooth disease, type IA3 tests
  • CHARGE association3 tests
  • Child syndrome6 tests
  • Childhood hypophosphatasia18 tests
  • Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome6 tests
  • Cholestasis6 tests
  • Chondrodysplasia Blomstrand type9 tests
  • Chondrodysplasia punctata6 tests
  • Chondrodysplasia punctata 2 X-linked dominant9 tests
  • Chondrodysplasia with joint dislocations, gPAPP type3 tests
  • Chromosome 2q32-q33 deletion syndrome3 tests
  • Ch├ędiak-Higashi syndrome6 tests
  • Citrullinemia type I1 test
  • Classic homocystinuria9 tests
  • Cleft lip/palate-ectodermal dysplasia syndrome6 tests
  • Cleft palate with or without ankyloglossia, X-linked3 tests
  • Cleidocranial dysostosis6 tests
  • COACH syndrome 19 tests
  • Cobalamin C disease1 test
  • Cobblestone lissencephaly without muscular or ocular involvement6 tests
  • Cockayne syndrome type 16 tests
  • Cockayne syndrome type 26 tests
  • CODAS syndrome3 tests
  • Coenzyme Q10 deficiency3 tests
  • Coenzyme Q10 deficiency, primary, 13 tests
  • Coenzyme Q10 deficiency, primary, 36 tests
  • Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome3 tests
  • Cohen syndrome3 tests
  • Cohen-Gibson syndrome6 tests
  • Cole-Carpenter syndrome6 tests
  • Cole-Carpenter syndrome 16 tests
  • Cole-Carpenter syndrome 26 tests
  • Combined oxidative phosphorylation defect type 78 tests
  • Complex cortical dysplasia with other brain malformations3 tests
  • Complex cortical dysplasia with other brain malformations 13 tests
  • Complex cortical dysplasia with other brain malformations 23 tests
  • Complex cortical dysplasia with other brain malformations 33 tests
  • Complex cortical dysplasia with other brain malformations 43 tests
  • Complex cortical dysplasia with other brain malformations 53 tests
  • Complex cortical dysplasia with other brain malformations 63 tests
  • Complex lethal osteochondrodysplasia6 tests
  • Congenital amegakaryocytic thrombocytopenia3 tests
  • Congenital aneurysm of ascending aorta3 tests
  • Congenital contractural arachnodactyly9 tests
  • Congenital generalized lipodystrophy type 13 tests
  • Congenital generalized lipodystrophy type 23 tests
  • Congenital heart defects, multiple types, 29 tests
  • Congenital heart disease3 tests
  • Congenital ichthyosis of skin6 tests
  • Congenital long QT syndrome3 tests
  • Congenital muscular hypertrophy-cerebral syndrome6 tests
  • Congenital myasthenic syndrome 3A6 tests
  • Congenital myasthenic syndrome 3B6 tests
  • Congenital myasthenic syndrome 3C6 tests
  • Congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome6 tests
  • Cornelia de Lange syndrome 16 tests
  • Cornelia de Lange syndrome 36 tests
  • Cornelia de Lange syndrome 46 tests
  • Cornelia de Lange syndrome 56 tests
  • Costello syndrome6 tests
  • Cowden syndrome 13 tests
  • Craniodiaphyseal dysplasia, autosomal dominant3 tests
  • Cranioectodermal dysplasia 19 tests
  • Cranioectodermal dysplasia 26 tests
  • Cranioectodermal dysplasia 39 tests
  • Cranioectodermal dysplasia 49 tests
  • Craniofrontonasal syndrome9 tests
  • Craniometadiaphyseal dysplasia wormian bone type6 tests
  • Craniometaphyseal dysplasia, autosomal dominant9 tests
  • Craniometaphyseal dysplasia, autosomal recessive9 tests
  • Craniosynostosis 23 tests
  • Craniosynostosis 43 tests
  • Craniosynostosis 63 tests
  • Craniosynostosis and dental anomalies3 tests
  • Craniosynostosis syndrome12 tests
  • Creatine transporter deficiency1 test
  • Crouzon syndrome3 tests
  • Crouzon syndrome-acanthosis nigricans syndrome3 tests
  • Curry-Hall syndrome12 tests
  • Cutis laxa with osteodystrophy3 tests
  • Cutis laxa, autosomal dominant 19 tests
  • Cutis laxa, autosomal dominant 26 tests
  • Cutis laxa, autosomal dominant 39 tests
  • Cutis laxa, autosomal recessive, type 1A6 tests
  • Cutis laxa, autosomal recessive, type 1B6 tests
  • Cystic fibrosis3 tests
  • Cystinuria6 tests
  • Dalmatian hypouricemia6 tests
  • De la Chapelle dysplasia3 tests
  • Deafness-lymphedema-leukemia syndrome3 tests
  • Deficiency of galactokinase1 test
  • Deficiency of guanidinoacetate methyltransferase1 test
  • Deficiency of hyaluronoglucosaminidase6 tests
  • Deficiency of N-acetylglucosamine-1-phosphotransferase6 tests
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
  • Dejerine-Sottas disease6 tests
  • Dent disease type 16 tests
  • Dent disease type 26 tests
  • Dermatitis, atopic, 23 tests
  • Dermatofibrosis lenticularis disseminata6 tests
  • Desbuquois dysplasia 118 tests
  • Desbuquois dysplasia 215 tests
  • Desmin-related myofibrillar myopathy12 tests
  • Diamond-Blackfan anemia 16 tests
  • Diamond-Blackfan anemia 106 tests
  • Diamond-Blackfan anemia 116 tests
  • Diamond-Blackfan anemia 126 tests
  • Diamond-Blackfan anemia 136 tests
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis6 tests
  • Diamond-Blackfan anemia 36 tests
  • Diamond-Blackfan anemia 46 tests
  • Diamond-Blackfan anemia 56 tests
  • Diamond-Blackfan anemia 66 tests
  • Diamond-Blackfan anemia 76 tests
  • Diamond-Blackfan anemia 86 tests
  • Diamond-Blackfan anemia 96 tests
  • Diaphyseal dysplasia3 tests
  • Diaphyseal medullary stenosis-bone malignancy syndrome3 tests
  • Diastrophic dysplasia15 tests
  • Diffuse mesangial sclerosis3 tests
  • Dilated cardiomyopathy 1C6 tests
  • Dilated cardiomyopathy 1E3 tests
  • Dilated cardiomyopathy 1I6 tests
  • Dilated cardiomyopathy 1II6 tests
  • Distal arthrogryposis6 tests
  • Distal myopathy6 tests
  • Distal myopathy with posterior leg and anterior hand involvement6 tests
  • DNA ligase IV deficiency6 tests
  • Duchenne muscular dystrophy3 tests
  • Dyggve-Melchior-Clausen syndrome12 tests
  • Dyskeratosis congenita6 tests
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant6 tests
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive6 tests
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant6 tests
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive6 tests
  • Ectodermal dysplasia 4, hair/nail type6 tests
  • Ectodermal dysplasia 7, hair/nail type6 tests
  • Ectodermal dysplasia 8, hair/tooth/nail type6 tests
  • Ectodermal dysplasia 9, hair/nail type6 tests
  • Ectopia lentis6 tests
  • Ectopia lentis 1, isolated, autosomal dominant6 tests
  • Ectopia lentis 2, isolated, autosomal recessive3 tests
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 33 tests
  • EDICT syndrome3 tests
  • Ehlers-Danlos syndrome45 tests
  • Ehlers-Danlos syndrome progeroid type24 tests
  • Ehlers-Danlos syndrome type 7A15 tests
  • Ehlers-Danlos syndrome type 7B15 tests
  • Ehlers-Danlos syndrome, classic type39 tests
  • Ehlers-Danlos syndrome, classic-like, 23 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic and deafness type15 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic type 115 tests
  • Ehlers-Danlos syndrome, musculocontractural type15 tests
  • Ehlers-Danlos syndrome, musculocontractural type 215 tests
  • Ehlers-Danlos syndrome, periodontal type 121 tests
  • Ehlers-Danlos syndrome, periodontal type 221 tests
  • Ehlers-Danlos syndrome, spondylocheirodysplastic type15 tests
  • Ehlers-Danlos syndrome, spondylodysplastic type, 227 tests
  • Ehlers-Danlos syndrome, type 433 tests
  • Eiken syndrome6 tests
  • Ellis-van Creveld syndrome12 tests
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive6 tests
  • Enhanced S-cone syndrome3 tests
  • Epidermolysis bullosa simplex 1A, generalized severe6 tests
  • Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive6 tests
  • Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency6 tests
  • Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive6 tests
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy6 tests
  • Epidermolysis bullosa simplex 5C, with pyloric atresia6 tests
  • Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss6 tests
  • Epidermolysis bullosa simplex with mottled pigmentation6 tests
  • Epiphyseal dysplasia, multiple, 29 tests
  • Epiphyseal dysplasia, multiple, 39 tests
  • Epiphyseal dysplasia, multiple, 69 tests
  • ERCC1-Related Xeroderma Pigmentosum3 tests
  • Erythrokeratodermia variabilis et progressiva 13 tests
  • Erythrokeratodermia variabilis et progressiva 23 tests
  • Erythrokeratodermia variabilis et progressiva 33 tests
  • Erythrokeratodermia variabilis et progressiva 43 tests
  • Erythrokeratodermia variabilis et progressiva 53 tests
  • Exostoses, multiple, type 26 tests
  • Exudative vitreoretinopathy 19 tests
  • Exudative vitreoretinopathy 2, X-linked9 tests
  • Exudative vitreoretinopathy 412 tests
  • Exudative vitreoretinopathy 59 tests
  • Exudative vitreoretinopathy 69 tests
  • Fabry disease18 tests
  • Familial benign pemphigus3 tests
  • Familial dysautonomia2 tests
  • Familial exudative vitreoretinopathy6 tests
  • Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome3 tests
  • Familial hypocalciuric hypercalcemia3 tests
  • Familial hypocalciuric hypercalcemia 13 tests
  • Familial hypocalciuric hypercalcemia 26 tests
  • Familial hypocalciuric hypercalcemia 36 tests
  • Familial hypokalemia-hypomagnesemia3 tests
  • Familial idiopathic hypercalciuria6 tests
  • Familial idiopathic steroid-resistant nephrotic syndrome3 tests
  • Familial juvenile hyperuricemic nephropathy type 16 tests
  • Familial juvenile hyperuricemic nephropathy type 23 tests
  • Familial Mediterranean fever3 tests
  • Familial pulmonary capillary hemangiomatosis3 tests
  • Familial spontaneous pneumothorax6 tests
  • Familial steroid-resistant nephrotic syndrome with sensorineural deafness6 tests
  • Familial thoracic aortic aneurysm and aortic dissection3 tests
  • Familial X-linked hypophosphatemic vitamin D refractory rickets6 tests
  • Fanconi anemia complementation group C2 tests
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young6 tests
  • Fetal akinesia deformation sequence 16 tests
  • Fetal akinesia-cerebral and retinal hemorrhage syndrome12 tests
  • FGFR2-related bent bone dysplasia6 tests
  • FGFR2-related craniosynostosis3 tests
  • Fibrochondrogenesis3 tests
  • Fibrochondrogenesis 118 tests
  • Fibrochondrogenesis 221 tests
  • Fibromatosis, gingival, 16 tests
  • Finnish congenital nephrotic syndrome6 tests
  • Focal segmental glomerulosclerosis3 tests
  • Focal segmental glomerulosclerosis 16 tests
  • Focal segmental glomerulosclerosis 26 tests
  • Focal segmental glomerulosclerosis 3, susceptibility to6 tests
  • Focal segmental glomerulosclerosis 56 tests
  • Focal segmental glomerulosclerosis 66 tests
  • Focal segmental glomerulosclerosis 76 tests
  • Focal segmental glomerulosclerosis 86 tests
  • Focal segmental glomerulosclerosis 96 tests
  • Fontaine progeroid syndrome6 tests
  • Fragile X syndrome3 tests
  • Frontometaphyseal dysplasia3 tests
  • Frontometaphyseal dysplasia 13 tests
  • Frontometaphyseal dysplasia 29 tests
  • Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome6 tests
  • Frontonasal dysplasia with alopecia and genital anomaly6 tests
  • Frontorhiny6 tests
  • Galactosylceramide beta-galactosidase deficiency1 test
  • Galloway-Mowat syndrome6 tests
  • Gaucher disease perinatal lethal6 tests
  • Gaucher disease type I2 tests
  • Generalized dominant dystrophic epidermolysis bullosa3 tests
  • Ghosal hematodiaphyseal dysplasia3 tests
  • Gillessen-Kaesbach-Nishimura syndrome3 tests
  • Glanzmann thrombasthenia6 tests
  • Glomerulopathy with fibronectin deposits 23 tests
  • Glomuvenous malformation12 tests
  • Glucose-6-phosphate transport defect1 test
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
  • Glycogen storage disease IXa11 test
  • Glycogen storage disease IXc1 test
  • Glycogen storage disease, type II9 tests
  • Glycogen storage disease, type VI1 test
  • GM1 gangliosidosis type 26 tests
  • GM1 gangliosidosis type 36 tests
  • Gnathodiaphyseal dysplasia6 tests
  • Gorlin syndrome15 tests
  • Gray platelet syndrome6 tests
  • Greenberg dysplasia6 tests
  • Greig cephalopolysyndactyly syndrome6 tests
  • Growth delay due to insulin-like growth factor I resistance9 tests
  • Growth delay due to insulin-like growth factor type 1 deficiency9 tests
  • Hajdu-Cheney syndrome6 tests
  • Hearing loss, X-linked 63 tests
  • Hereditary hemorrhagic telangiectasia3 tests
  • Hereditary motor and sensory neuropathy3 tests
  • Hereditary motor and sensory neuropathy with optic atrophy3 tests
  • Hereditary motor and sensory neuropathy, Okinawa type3 tests
  • Hereditary spastic paraplegia 558 tests
  • Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX13 tests
  • Hereditary xanthinuria type 16 tests
  • Hermansky-Pudlak syndrome 13 tests
  • Hermansky-Pudlak syndrome 26 tests
  • Hermansky-Pudlak syndrome 33 tests
  • Hermansky-Pudlak syndrome 43 tests
  • Hermansky-Pudlak syndrome 53 tests
  • Hermansky-Pudlak syndrome 63 tests
  • Hermansky-Pudlak syndrome 73 tests
  • Hermansky-Pudlak syndrome 83 tests
  • Hermansky-Pudlak syndrome 93 tests
  • Heterotopia, periventricular, X-linked dominant3 tests
  • Homocystinuria3 tests
  • Hurler syndrome1 test
  • Hutchinson-Gilford syndrome3 tests
  • Hypercalcemia, infantile, 16 tests
  • Hypercalcemia, infantile, 26 tests
  • Hyperphosphatasemia with bone disease6 tests
  • Hypertrichotic osteochondrodysplasia Cantu type6 tests
  • Hypertrophic cardiomyopathy 16 tests
  • Hypertrophic cardiomyopathy 266 tests
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 13 tests
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 23 tests
  • Hyperuricemic nephropathy, familial juvenile type 46 tests
  • Hypocalcemia6 tests
  • Hypochondroplasia15 tests
  • Hypohidrotic X-linked ectodermal dysplasia3 tests
  • Hypophosphatasia15 tests
  • Hypophosphatemic nephrolithiasis/osteoporosis 16 tests
  • Hypophosphatemic nephrolithiasis/osteoporosis 26 tests
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome6 tests
  • Hypotrichosis 13 tests
  • Hypotrichosis 116 tests
  • Hypotrichosis 126 tests
  • Hypotrichosis 136 tests
  • Hypotrichosis 26 tests
  • Hypotrichosis 36 tests
  • Hypotrichosis 46 tests
  • Hypotrichosis 66 tests
  • Hypotrichosis 76 tests
  • Hypotrichosis 83 tests
  • Hypotrichosis simplex3 tests
  • Hypouricemia, renal, 26 tests
  • Ichthyosis bullosa of Siemens6 tests
  • Ichthyosis, congenital, autosomal recessive 126 tests
  • Ichthyosis, congenital, autosomal recessive 146 tests
  • Immunoglobulin-mediated membranoproliferative glomerulonephritis6 tests
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 23 tests
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 33 tests
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 13 tests
  • Infantile cortical hyperostosis3 tests
  • Infantile GM1 gangliosidosis6 tests
  • Infantile hypophosphatasia18 tests
  • Infantile nephronophthisis6 tests
  • Intellectual disability, autosomal dominant 133 tests
  • Intervertebral disc disorder3 tests
  • Intracerebral hemorrhage3 tests
  • Isolated growth hormone deficiency type IB3 tests
  • Isovaleryl-CoA dehydrogenase deficiency1 test
  • Jackson-Weiss syndrome3 tests
  • Jervell and Lange-Nielsen syndrome 19 tests
  • Jervell and Lange-Nielsen syndrome 26 tests
  • Joubert syndrome3 tests
  • Joubert syndrome 13 tests
  • Joubert syndrome 1012 tests
  • Joubert syndrome 116 tests
  • Joubert syndrome 126 tests
  • Joubert syndrome 136 tests
  • Joubert syndrome 146 tests
  • Joubert syndrome 159 tests
  • Joubert syndrome 169 tests
  • Joubert syndrome 176 tests
  • Joubert syndrome 186 tests
  • Joubert syndrome 199 tests
  • Joubert syndrome 29 tests
  • Joubert syndrome 209 tests
  • Joubert syndrome 216 tests
  • Joubert syndrome 226 tests
  • Joubert syndrome 236 tests
  • Joubert syndrome 256 tests
  • Joubert syndrome 266 tests
  • Joubert syndrome 39 tests
  • Joubert syndrome 303 tests
  • Joubert syndrome 313 tests
  • Joubert syndrome 323 tests
  • Joubert syndrome 333 tests
  • Joubert syndrome 56 tests
  • Joubert syndrome 66 tests
  • Joubert syndrome 79 tests
  • Joubert syndrome 86 tests
  • Joubert syndrome 93 tests
  • Joubert syndrome with renal defect3 tests
  • Juvenile myelomonocytic leukemia6 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome9 tests
  • Juvenile retinoschisis3 tests
  • Kabuki syndrome 13 tests
  • Kabuki syndrome 23 tests
  • Karyomegalic interstitial nephritis3 tests
  • KBG syndrome3 tests
  • Kenny-Caffey syndrome6 tests
  • Keratoconus 13 tests
  • Keratosis follicularis3 tests
  • Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome6 tests
  • Klippel-Feil syndrome 1, autosomal dominant6 tests
  • Klippel-Feil syndrome 2, autosomal recessive6 tests
  • Klippel-Feil syndrome 3, autosomal dominant6 tests
  • Klippel-Feil syndrome, RIPPLY2 related6 tests
  • Knobloch syndrome6 tests
  • Kugelberg-Welander disease2 tests
  • LAMB2-related infantile-onset nephrotic syndrome6 tests
  • Langer mesomelic dysplasia syndrome3 tests
  • Laron-type isolated somatotropin defect3 tests
  • Larsen syndrome9 tests
  • Larsen-like syndrome, B3GAT3 type3 tests
  • Lateral meningocele syndrome3 tests
  • Leber congenital amaurosis 16 tests
  • Leber congenital amaurosis 106 tests
  • Leber congenital amaurosis 116 tests
  • Leber congenital amaurosis 126 tests
  • Leber congenital amaurosis 136 tests
  • Leber congenital amaurosis 146 tests
  • Leber congenital amaurosis 156 tests
  • Leber congenital amaurosis 169 tests
  • Leber congenital amaurosis 176 tests
  • Leber congenital amaurosis 186 tests
  • Leber congenital amaurosis 26 tests
  • Leber congenital amaurosis 36 tests
  • Leber congenital amaurosis 46 tests
  • Leber congenital amaurosis 56 tests
  • Leber congenital amaurosis 66 tests
  • Leber congenital amaurosis 76 tests
  • Leber congenital amaurosis 86 tests
  • Leber congenital amaurosis 96 tests
  • Legg-Calve-Perthes disease6 tests
  • Legius syndrome12 tests
  • Lenz-Majewski hyperostosis syndrome3 tests
  • LEOPARD syndrome 16 tests
  • LEOPARD syndrome 26 tests
  • LEOPARD syndrome 36 tests
  • Leri-Weill dyschondrosteosis3 tests
  • Lethal congenital contracture syndrome 112 tests
  • Lethal congenital contracture syndrome 1112 tests
  • Lethal congenital contracture syndrome 212 tests
  • Lethal congenital contracture syndrome 36 tests
  • Lethal congenital contracture syndrome 412 tests
  • Lethal congenital contracture syndrome 612 tests
  • Lethal congenital contracture syndrome 712 tests
  • Lethal congenital contracture syndrome 812 tests
  • Lethal congenital contracture syndrome 912 tests
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome6 tests
  • Lethal Kniest-like syndrome15 tests
  • Lethal multiple pterygium syndrome12 tests
  • Lethal occipital encephalocele-skeletal dysplasia syndrome3 tests
  • Lethal osteosclerotic bone dysplasia6 tests
  • Lethal tight skin contracture syndrome3 tests
  • Leukocyte adhesion deficiency 36 tests
  • Limb-girdle muscular dystrophy due to POMK deficiency6 tests
  • Limb-mammary syndrome3 tests
  • Lissencephaly 46 tests
  • Lissencephaly 6 with microcephaly6 tests
  • Lissencephaly 7 with cerebellar hypoplasia6 tests
  • Lissencephaly 86 tests
  • Lissencephaly due to LIS1 mutation6 tests
  • Lissencephaly due to TUBA1A mutation6 tests
  • Lissencephaly type 1 due to doublecortin gene mutation6 tests
  • Loeys-Dietz syndrome 139 tests
  • Loeys-Dietz syndrome 245 tests
  • Loeys-Dietz syndrome 424 tests
  • Long QT syndrome 16 tests
  • Long QT syndrome 106 tests
  • Long QT syndrome 116 tests
  • Long QT syndrome 126 tests
  • Long QT syndrome 136 tests
  • Long QT syndrome 146 tests
  • Long QT syndrome 156 tests
  • Long QT syndrome 212 tests
  • Long QT syndrome 39 tests
  • Long QT syndrome 46 tests
  • Long QT syndrome 56 tests
  • Long QT syndrome 66 tests
  • Long QT syndrome 96 tests
  • Loricrin keratoderma3 tests
  • Lowe syndrome6 tests
  • Luscan-Lumish syndrome3 tests
  • Lysosomal acid lipase deficiency3 tests
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss6 tests
  • Malan overgrowth syndrome6 tests
  • Mandibular hypoplasia-deafness-progeroid syndrome3 tests
  • Mandibuloacral dysplasia with type B lipodystrophy3 tests
  • Mandibulofacial dysostosis with alopecia3 tests
  • Mandibulofacial dysostosis-microcephaly syndrome6 tests
  • Maple syrup urine disease2 tests
  • Marfan syndrome39 tests
  • Marshall syndrome12 tests
  • Marshall-Smith syndrome6 tests
  • Meckel syndrome 133 tests
  • Meckel syndrome, type 16 tests
  • Meckel syndrome, type 106 tests
  • Meckel syndrome, type 116 tests
  • Meckel syndrome, type 23 tests
  • Meckel syndrome, type 33 tests
  • Meckel syndrome, type 43 tests
  • Meckel syndrome, type 53 tests
  • Meckel syndrome, type 63 tests
  • Meckel syndrome, type 86 tests
  • Meckel syndrome, type 96 tests
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 13 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 23 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 33 tests
  • MEGF8-related Carpenter syndrome3 tests
  • Meier-Gorlin syndrome12 tests
  • Meier-Gorlin syndrome 212 tests
  • Meier-Gorlin syndrome 312 tests
  • Meier-Gorlin syndrome 412 tests
  • Meier-Gorlin syndrome 512 tests
  • Meier-Gorlin syndrome 612 tests
  • Meier-Gorlin syndrome 715 tests
  • Meier-Gorlin syndrome 86 tests
  • Melnick-Needles syndrome3 tests
  • Menkes kinky-hair syndrome3 tests
  • Merosin deficient congenital muscular dystrophy3 tests
  • Metachromatic leukodystrophy1 test
  • Metaphyseal anadysplasia 215 tests
  • Metaphyseal chondrodysplasia, Jansen type12 tests
  • Metaphyseal chondrodysplasia, McKusick type9 tests
  • Metaphyseal chondrodysplasia, Schmid type15 tests
  • Metaphyseal chondrodysplasia, Spahr type3 tests
  • Metaphyseal dysplasia without hypotrichosis12 tests
  • Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome6 tests
  • Metatropic dysplasia12 tests
  • Microcephalic osteodysplastic primordial dwarfism type II6 tests
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations3 tests
  • Microcephaly 6, primary, autosomal recessive6 tests
  • Microcephaly 9, primary, autosomal recessive6 tests
  • Microcephaly, short stature, and limb abnormalities6 tests
  • Miller syndrome6 tests
  • Mitral valve prolapse, myxomatous 23 tests
  • Mucolipidosis type III gamma6 tests
  • Mucolipidosis type IV8 tests
  • Mucopolysaccharidosis type 16 tests
  • Mucopolysaccharidosis type 67 tests
  • Mucopolysaccharidosis type 76 tests
  • Mucopolysaccharidosis, MPS-I-H/S3 tests
  • Mucopolysaccharidosis, MPS-II7 tests
  • Mucopolysaccharidosis, MPS-III-A6 tests
  • Mucopolysaccharidosis, MPS-III-B6 tests
  • Mucopolysaccharidosis, MPS-III-C6 tests
  • Mucopolysaccharidosis, MPS-III-D6 tests
  • Mucopolysaccharidosis, MPS-IV-A6 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 23 tests
  • Multiple congenital exostosis6 tests
  • Multiple cutaneous and mucosal venous malformations12 tests
  • Multiple epiphyseal dysplasia type 112 tests
  • Multiple epiphyseal dysplasia type 49 tests
  • Multiple epiphyseal dysplasia type 59 tests
  • Multiple fibrofolliculomas3 tests
  • Multiple sulfatase deficiency1 test
  • Muscle eye brain disease9 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 103 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 113 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 129 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 49 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 79 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A19 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A133 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A149 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A29 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A59 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A69 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A99 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B16 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B149 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B26 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B36 tests
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B46 tests
  • Muscular dystrophy-dystroglycanopathy type B59 tests
  • Muscular dystrophy-dystroglycanopathy type B69 tests
  • Myasthenic syndrome, congenital, 1B, fast-channel6 tests
  • Myasthenic syndrome, slow-channel congenital6 tests
  • MYH9-related disorder6 tests
  • Myhre syndrome3 tests
  • Myofibrillar myopathy 26 tests
  • Myofibrillar myopathy 312 tests
  • Myofibrillar myopathy 46 tests
  • Myofibrillar myopathy 512 tests
  • Myofibrillar myopathy 86 tests
  • Myopathy, congenital, with fiber-type disproportion, X-linked6 tests
  • Myopathy, reducing body, X-linked, childhood-onset6 tests
  • Myopathy, reducing body, X-linked, early-onset, severe6 tests
  • Nager syndrome6 tests
  • Namaqualand hip dysplasia6 tests
  • NDE1-related microhydranencephaly6 tests
  • NEK9-related lethal skeletal dysplasia12 tests
  • Neonatal diabetes mellitus with congenital hypothyroidism3 tests
  • Nephrolithiasis susceptibility caused by SLC26A16 tests
  • Nephronophthisis 13 tests
  • Nephronophthisis 113 tests
  • Nephronophthisis 126 tests
  • Nephronophthisis 133 tests
  • Nephronophthisis 146 tests
  • Nephronophthisis 153 tests
  • Nephronophthisis 166 tests
  • Nephronophthisis 183 tests
  • Nephronophthisis 193 tests
  • Nephronophthisis 203 tests
  • Nephronophthisis 36 tests
  • Nephronophthisis 43 tests
  • Nephronophthisis 73 tests
  • Nephronophthisis 93 tests
  • Nephronophthisis-like nephropathy 13 tests
  • Nephrotic syndrome3 tests
  • Nephrotic syndrome 143 tests
  • Nephrotic syndrome 153 tests
  • Nephrotic syndrome 163 tests
  • Nephrotic syndrome, type 106 tests
  • Nephrotic syndrome, type 116 tests
  • Nephrotic syndrome, type 126 tests
  • Nephrotic syndrome, type 136 tests
  • Nephrotic syndrome, type 23 tests
  • Nephrotic syndrome, type 36 tests
  • Nephrotic syndrome, type 43 tests
  • Nephrotic syndrome, type 66 tests
  • Nephrotic syndrome, type 86 tests
  • Nephrotic syndrome, type 96 tests
  • Nestor-Guillermo progeria syndrome3 tests
  • Neu-Laxova syndrome 16 tests
  • Neu-Laxova syndrome 26 tests
  • Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation3 tests
  • Neurofibromatosis, familial spinal6 tests
  • Neurofibromatosis, type 19 tests
  • Neurofibromatosis, type 212 tests
  • Neurofibromatosis-Noonan syndrome6 tests
  • Neurogenic scapuloperoneal syndrome, Kaeser type6 tests
  • Neuronopathy, distal hereditary motor, type 16 tests
  • Neuronopathy, distal hereditary motor, type 5A8 tests
  • Neuronopathy, distal hereditary motor, type 7A6 tests
  • Niemann-Pick disease, type A8 tests
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities3 tests
  • Non-immune hydrops fetalis3 tests
  • Noonan syndrome3 tests
  • Noonan syndrome 19 tests
  • Noonan syndrome 109 tests
  • Noonan syndrome 39 tests
  • Noonan syndrome 49 tests
  • Noonan syndrome 59 tests
  • Noonan syndrome 69 tests
  • Noonan syndrome 79 tests
  • Noonan syndrome 89 tests
  • Noonan syndrome 99 tests
  • Noonan syndrome-like disorder with loose anagen hair3 tests
  • Noonan syndrome-like disorder with loose anagen hair 13 tests
  • Noonan syndrome-like disorder with loose anagen hair 26 tests
  • Norman-Roberts syndrome6 tests
  • NPHP3-related Meckel-like syndrome9 tests
  • Odonto-onycho-dermal dysplasia6 tests
  • Oligodontia-cancer predisposition syndrome3 tests
  • Opsismodysplasia12 tests
  • Ornithine carbamoyltransferase deficiency1 test
  • Orofacial cleft 103 tests
  • Orofacial cleft 113 tests
  • Orofacial cleft 53 tests
  • Orofaciodigital syndrome I6 tests
  • Orofaciodigital syndrome type 146 tests
  • Orofaciodigital syndrome XV3 tests
  • Osteodysplastic primordial dwarfism, type 16 tests
  • Osteogenesis imperfecta6 tests
  • Osteogenesis imperfecta type 106 tests
  • Osteogenesis imperfecta type 116 tests
  • Osteogenesis imperfecta type 126 tests
  • Osteogenesis imperfecta type 136 tests
  • Osteogenesis imperfecta type 146 tests
  • Osteogenesis imperfecta type 156 tests
  • Osteogenesis imperfecta type 166 tests
  • Osteogenesis imperfecta type 176 tests
  • Osteogenesis imperfecta type 512 tests
  • Osteogenesis imperfecta type 66 tests
  • Osteogenesis imperfecta type 76 tests
  • Osteogenesis imperfecta type 86 tests
  • Osteogenesis imperfecta type 96 tests
  • Osteogenesis imperfecta type I27 tests
  • Osteogenesis imperfecta type III27 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form27 tests
  • Osteogenesis imperfecta, recessive perinatal lethal27 tests
  • Osteopathia striata with cranial sclerosis6 tests
  • Osteopetrosis with renal tubular acidosis15 tests
  • Osteoporosis with pseudoglioma12 tests
  • Oto-palato-digital syndrome, type I3 tests
  • Oto-palato-digital syndrome, type II3 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant18 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive6 tests
  • Paget disease of bone 2, early-onset3 tests
  • Paget disease of bone 33 tests
  • Paget disease of bone 63 tests
  • Pallister-Hall syndrome3 tests
  • Panhypopituitarism, X-linked3 tests
  • Parastremmatic dwarfism12 tests
  • Paris-Trousseau thrombocytopenia3 tests
  • Parkes Weber syndrome6 tests
  • Partial hypoxanthine-guanine phosphoribosyltransferase deficiency6 tests
  • Peeling skin syndrome 115 tests
  • Peeling skin syndrome 415 tests
  • Peeling skin syndrome 515 tests
  • Peeling skin syndrome type A15 tests
  • Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome3 tests
  • Pfeiffer syndrome3 tests
  • Phenylketonuria3 tests
  • PHGDH deficiency6 tests
  • Pituitary hormone deficiency, combined, 13 tests
  • Pituitary hormone deficiency, combined, 23 tests
  • Pituitary hormone deficiency, combined, 63 tests
  • Platelet-type bleeding disorder 103 tests
  • Platelet-type bleeding disorder 113 tests
  • Platelet-type bleeding disorder 153 tests
  • Platelet-type bleeding disorder 166 tests
  • Platelet-type bleeding disorder 173 tests
  • Platelet-type bleeding disorder 183 tests
  • Platelet-type bleeding disorder 196 tests
  • Platelet-type bleeding disorder 206 tests
  • Platelet-type bleeding disorder 83 tests
  • Platyspondylic dysplasia, Torrance type12 tests
  • Polycystic kidney disease 26 tests
  • Polycystic kidney disease 3 with or without polycystic liver disease6 tests
  • Polycystic kidney disease 41 test
  • Polycystic kidney disease, adult type5 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 13 tests
  • Polycystic liver disease 13 tests
  • Polycystic liver disease 23 tests
  • Polydactyly, postaxial, type A13 tests
  • Polymicrogyria with optic nerve hypoplasia3 tests
  • Polymicrogyria, bilateral perisylvian, autosomal recessive3 tests
  • Polysyndactyly 43 tests
  • Popliteal pterygium syndrome3 tests
  • Porencephaly 29 tests
  • Primary failure of tooth eruption6 tests
  • Primary hyperoxaluria type 36 tests
  • Primary hyperoxaluria, type I6 tests
  • Primary hyperoxaluria, type II6 tests
  • Primary hypomagnesemia6 tests
  • Primary intraosseous venous malformation3 tests
  • Progeroid and marfanoid aspect-lipodystrophy syndrome3 tests
  • Progressive familial heart block type IB6 tests
  • Progressive familial heart block, type 1A3 tests
  • Progressive myositis ossificans3 tests
  • Progressive pseudorheumatoid dysplasia6 tests
  • Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome3 tests
  • Proliferative vitreoretinopathy3 tests
  • PSAT deficiency6 tests
  • Pseudo-Hurler polydystrophy6 tests
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome6 tests
  • Pseudoxanthoma elasticum3 tests
  • Pulmonary hypertension, primary, 16 tests
  • Pulmonary hypertension, primary, 29 tests
  • Pulmonary hypertension, primary, 36 tests
  • Pulmonary hypertension, primary, 46 tests
  • Pulmonary venoocclusive disease 1, autosomal dominant3 tests
  • PYCR1-related de Barsy syndrome6 tests
  • Pyknodysostosis6 tests
  • Quebec platelet disorder3 tests
  • RAB23-related Carpenter syndrome3 tests
  • Radial aplasia-thrombocytopenia syndrome6 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 13 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 23 tests
  • Recessive dystrophic epidermolysis bullosa3 tests
  • Renal cysts and diabetes syndrome3 tests
  • Renal dysplasia, cystic, susceptibility to3 tests
  • Renal hypomagnesemia 5 with ocular involvement6 tests
  • Renal tubular dysgenesis3 tests
  • Renal-hepatic-pancreatic dysplasia1 test
  • Renal-hepatic-pancreatic dysplasia 12 tests
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations3 tests
  • Retinitis pigmentosa6 tests
  • Retinitis pigmentosa 806 tests
  • Rhizomelic chondrodysplasia punctata type 19 tests
  • Rienhoff syndrome21 tests
  • Rippling muscle disease 26 tests
  • Roifman syndrome9 tests
  • Rothmund-Thomson syndrome3 tests
  • Rubinstein-Taybi syndrome due to CREBBP mutations3 tests
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency3 tests
  • Saethre-Chotzen syndrome6 tests
  • Saldino-Mainzer syndrome6 tests
  • Sarcotubular myopathy6 tests
  • SchC6pf-Schulz-Passarge syndrome6 tests
  • Schimke immuno-osseous dysplasia3 tests
  • Schneckenbecken dysplasia6 tests
  • Schwannomatosis 16 tests
  • Schwartz-Jampel syndrome9 tests
  • Sclerosteosis 13 tests
  • Sclerosteosis 23 tests
  • SCOTT SYNDROME3 tests
  • Seckel syndrome6 tests
  • Seckel syndrome 26 tests
  • Seckel syndrome 46 tests
  • Seckel syndrome 56 tests
  • Seckel syndrome 66 tests
  • Seckel syndrome 76 tests
  • Seckel syndrome 86 tests
  • Seckel syndrome 96 tests
  • Senior-Loken syndrome 53 tests
  • Senior-Loken syndrome 73 tests
  • Senior-Loken syndrome 93 tests
  • Septo-optic dysplasia sequence3 tests
  • Short QT syndrome3 tests
  • Short QT syndrome type 19 tests
  • Short QT syndrome type 29 tests
  • Short QT syndrome type 39 tests
  • Short stature due to partial GHR deficiency3 tests
  • Short stature with nonspecific skeletal abnormalities3 tests
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies6 tests
  • Short stature, microcephaly, and endocrine dysfunction6 tests
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome3 tests
  • Short-rib thoracic dysplasia 10 with or without polydactyly6 tests
  • Short-rib thoracic dysplasia 11 with or without polydactyly6 tests
  • Short-rib thoracic dysplasia 13 with or without polydactyly6 tests
  • Short-rib thoracic dysplasia 14 with polydactyly6 tests
  • Short-rib thoracic dysplasia 15 with polydactyly6 tests
  • Short-rib thoracic dysplasia 16 with or without polydactyly6 tests
  • Short-rib thoracic dysplasia 17 with or without polydactyly3 tests
  • Short-rib thoracic dysplasia 6 with or without polydactyly9 tests
  • Short-rib thoracic dysplasia 8 with or without polydactyly3 tests
  • SHOX-related short stature3 tests
  • Shprintzen-Goldberg syndrome6 tests
  • Shwachman-Diamond syndrome 19 tests
  • Sick sinus syndrome 13 tests
  • Simpson-Golabi-Behmel syndrome type 13 tests
  • Simpson-Golabi-Behmel syndrome type 26 tests
  • Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome3 tests
  • Skraban-Deardorff syndrome3 tests
  • Smith-Lemli-Opitz syndrome1 test
  • Smith-McCort dysplasia 19 tests
  • Smith-McCort dysplasia 26 tests
  • Snowflake vitreoretinal degeneration3 tests
  • Sotos syndrome 16 tests
  • Sotos syndrome 33 tests
  • Spheroid body myopathy6 tests
  • Split hand-foot malformation 43 tests
  • Spondylo-megaepiphyseal-metaphyseal dysplasia12 tests
  • Spondylocarpotarsal synostosis syndrome3 tests
  • Spondylocostal dysostosis3 tests
  • Spondylocostal dysostosis 2, autosomal recessive3 tests
  • Spondylocostal dysostosis 3, autosomal recessive3 tests
  • Spondylocostal dysostosis 4, autosomal recessive3 tests
  • Spondylocostal dysostosis 53 tests
  • Spondylocostal dysostosis 6, autosomal recessive3 tests
  • Spondyloenchondrodysplasia with immune dysregulation3 tests
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures6 tests
  • Spondyloepimetaphyseal dysplasia with multiple dislocations6 tests
  • Spondyloepimetaphyseal dysplasia, aggrecan type3 tests
  • Spondyloepimetaphyseal dysplasia, Genevieve type3 tests
  • Spondyloepimetaphyseal dysplasia, Maroteaux type6 tests
  • Spondyloepimetaphyseal dysplasia, Missouri type15 tests
  • Spondyloepimetaphyseal dysplasia, PAPSS2 type3 tests
  • Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome12 tests
  • Spondyloepiphyseal dysplasia congenita18 tests
  • Spondyloepiphyseal dysplasia tarda6 tests
  • Spondyloepiphyseal dysplasia with congenital joint dislocations3 tests
  • Spondyloepiphyseal dysplasia, Stanescu type6 tests
  • Spondylometaphyseal dysplasia15 tests
  • Spondylometaphyseal dysplasia - Sutcliffe type3 tests
  • Spondylometaphyseal dysplasia, Kozlowski type3 tests
  • Spondylometaphyseal dysplasia, Sedaghatian type3 tests
  • Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome3 tests
  • Spondyloperipheral dysplasia3 tests
  • Spongy degeneration of central nervous system2 tests
  • SRD5A3-congenital disorder of glycosylation3 tests
  • Steel syndrome3 tests
  • Stickler syndrome9 tests
  • Stickler syndrome type 112 tests
  • Stickler syndrome type 218 tests
  • Stickler syndrome, type 415 tests
  • Stickler syndrome, type 515 tests
  • Stickler syndrome, type I, nonsyndromic ocular6 tests
  • Stiff skin syndrome6 tests
  • Stuve-Wiedemann syndrome9 tests
  • Supravalvar aortic stenosis3 tests
  • Syndromic microphthalmia type 53 tests
  • Tall stature-intellectual disability-facial dysmorphism syndrome3 tests
  • Tall stature-scoliosis-macrodactyly of the great toes syndrome3 tests
  • Tay-Sachs disease2 tests
  • TCF12-related craniosynostosis3 tests
  • Telangiectasia, hereditary hemorrhagic, type 19 tests
  • Telangiectasia, hereditary hemorrhagic, type 29 tests
  • Telangiectasia, hereditary hemorrhagic, type 59 tests
  • Terminal osseous dysplasia-pigmentary defects syndrome3 tests
  • Thanatophoric dysplasia type 115 tests
  • Thanatophoric dysplasia, type 215 tests
  • Thrombocytopenia 13 tests
  • Thrombocytopenia 23 tests
  • Thrombocytopenia 33 tests
  • Thrombocytopenia 43 tests
  • Thrombocytopenia 53 tests
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia3 tests
  • Timothy syndrome3 tests
  • Tooth agenesis, selective, 13 tests
  • Tooth agenesis, selective, 33 tests
  • Tooth agenesis, selective, 46 tests
  • Tooth agenesis, selective, 73 tests
  • Tooth agenesis, selective, 83 tests
  • Tooth agenesis, selective, X-linked, 13 tests
  • Treacher Collins syndrome 112 tests
  • Treacher Collins syndrome 212 tests
  • Treacher Collins syndrome 312 tests
  • Tricho-dento-osseous syndrome9 tests
  • Trichothiodystrophy 1, photosensitive3 tests
  • Trichothiodystrophy 2, photosensitive3 tests
  • Trichothiodystrophy 3, photosensitive3 tests
  • Trichothiodystrophy 4, nonphotosensitive3 tests
  • Trichothiodystrophy 5, nonphotosensitive3 tests
  • Trichothiodystrophy 6, nonphotosensitive3 tests
  • Trigonocephaly 23 tests
  • Tuberous sclerosis 16 tests
  • Tuberous sclerosis 26 tests
  • Tubulointerstitial kidney disease, autosomal dominant, 22 tests
  • Tumoral calcinosis, hyperphosphatemic, familial, 13 tests
  • TWIST1-related craniosynostosis3 tests
  • Type II Collagenopathies3 tests
  • UDPglucose-4-epimerase deficiency1 test
  • Ullrich congenital muscular dystrophy6 tests
  • Upshaw-Schulman syndrome3 tests
  • Van Buchem disease type 23 tests
  • Van der Woude syndrome 19 tests
  • Van der Woude syndrome 26 tests
  • Van Maldergem syndrome 16 tests
  • Ventricular fibrillation, paroxysmal familial, type 13 tests
  • Waardenburg syndrome type 13 tests
  • Waardenburg syndrome type 2A3 tests
  • Waardenburg syndrome type 2D3 tests
  • Waardenburg syndrome type 2E3 tests
  • Waardenburg syndrome type 33 tests
  • Waardenburg syndrome type 4A3 tests
  • Waardenburg syndrome type 4B3 tests
  • Waardenburg syndrome type 4C3 tests
  • Wagner syndrome9 tests
  • Weaver syndrome9 tests
  • Weill-Marchesani 4 syndrome, recessive3 tests
  • Weill-Marchesani syndrome 13 tests
  • Weill-Marchesani syndrome 2, dominant9 tests
  • Weill-Marchesani syndrome 36 tests
  • Werdnig-Hoffmann disease3 tests
  • Werner syndrome3 tests
  • Wiedemann-Steiner syndrome3 tests
  • Wilson disease3 tests
  • Wiskott-Aldrich syndrome3 tests
  • Wolcott-Rallison dysplasia3 tests
  • Wolman disease3 tests
  • Woolly hair, autosomal recessive 1, with or without hypotrichosis3 tests
  • Worth disease6 tests
  • X-linked agammaglobulinemia with growth hormone deficiency3 tests
  • X-linked Alport syndrome6 tests
  • X-linked chondrodysplasia punctata 19 tests
  • X-linked dyserythropoetic anemia with abnormal platelets and neutropenia3 tests
  • X-linked Emery-Dreifuss muscular dystrophy6 tests
  • X-linked ichthyosis with steryl-sulfatase deficiency6 tests
  • X-linked lissencephaly with abnormal genitalia6 tests
  • X-linked myopathy with postural muscle atrophy6 tests
  • X-linked recessive nephrolithiasis with renal failure6 tests
  • X-linked scapuloperoneal muscular dystrophy6 tests
  • X-linked severe congenital neutropenia3 tests
  • X-linked spondyloepimetaphyseal dysplasia3 tests
  • Xeroderma pigmentosum group A3 tests
  • Xeroderma pigmentosum group B6 tests
  • Xeroderma pigmentosum variant type3 tests
  • Xeroderma pigmentosum, group C3 tests
  • Xeroderma pigmentosum, group D6 tests
  • Xeroderma pigmentosum, group E3 tests
  • Xeroderma pigmentosum, group F6 tests
  • Xeroderma pigmentosum, group G6 tests
  • Young adult-onset distal hereditary motor neuropathy6 tests
  • Zimmermann-Laband syndrome 13 tests
  • Zimmermann-Laband syndrome 23 tests

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Mutation Confirmation
  • Result interpretation

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 39D1027912, Expiration date: 2023-09-28
  • CAP, Number: 7190738, Expiration date: 2024-04-16

Licenses

  • CA - California Department of Public Health CDPH, Number: CDS-90001094, Effective date: 2022-07-13, Expiration date: 2023-07-12
  • MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 1559, Effective date: 2018-07-01 Non-expiring
  • PA - Pennsylvania Department of Health PADOH, Number: 29131A, Expiration date: 2023-08-15

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.