GTR Home > Laboratories > Instituto de Medicina Genomica

Instituto de Medicina Genomica

GTR Lab ID: 99865, Last updated:2014-06-19
Annual Review past due read more

Personnel

  • Director: María Garcia-Hoyos, PhD, Medical Director
    Phone: +34 963212340
    Fax: +34 963212341
    Email: maria.garcia@imegen.es
  • Director: Javier Garcia-Planells, PhD, Scientific Director
    Phone: +34 963212340
    Fax: +34 963212341
    Email: javier.garcia@imegen.es
  • Director: Carlos Ruiz-Lafora, PhD, Lab Director
    Phone: +34 963212340
    Fax: +34 963212341
    Email: carlos.ruiz@imegen.es

Conditions and tests

  • 3 beta-Hydroxysteroid dehydrogenase deficiency1 test
  • 3-Methylglutaconic aciduria type 21 test
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
  • 46,XX sex reversal, type 18 tests
  • 46,XX testicular disorder of sex development1 test
  • 46,XY sex reversal, type 13 tests
  • 46,XY sex reversal, type 35 tests
  • 46,XY sex reversal, type 75 tests
  • Aarskog syndrome, autosomal dominant2 tests
  • Aase syndrome9 tests
  • ABO blood group system1 test
  • Achondrogenesis, type IA1 test
  • Achondrogenesis, type IB3 tests
  • Achondrogenesis, type II2 tests
  • Achondroplasia3 tests
  • Achromatopsia 25 tests
  • Achromatopsia 35 tests
  • Acquired partial lipodystrophy1 test
  • Acrocallosal syndrome, Schinzel type1 test
  • Acrocephalosyndactyly type I2 tests
  • Acroerythrokeratoderma1 test
  • ACTH resistance2 tests
  • Acute intermittent porphyria1 test
  • Acute neuronopathic Gaucher's disease2 tests
  • Adams-Oliver syndrome 13 tests
  • Adams-Oliver syndrome 23 tests
  • Adrenocortical carcinoma, hereditary1 test
  • Adrenoleukodystrophy2 tests
  • Adult hypophosphatasia3 tests
  • Adult junctional epidermolysis bullosa5 tests
  • Afibrinogenemia1 test
  • Afibrinogenemia, congenital3 tests
  • Aicardi Goutieres syndrome 15 tests
  • Aicardi Goutieres syndrome 25 tests
  • Aicardi Goutieres syndrome 45 tests
  • Aicardi Goutieres syndrome 55 tests
  • Alagille syndrome 13 tests
  • Alagille syndrome 21 test
  • Albinism, ocular, with sensorineural deafness1 test
  • Alexander Disease1 test
  • Alkaptonuria2 tests
  • Alopecia universalis congenita1 test
  • alpha Thalassemia2 tests
  • Alpha-1-antitrypsin deficiency2 tests
  • Alpha-methylacyl-CoA racemase deficiency1 test
  • Alport syndrome, autosomal dominant4 tests
  • Alport syndrome, autosomal recessive4 tests
  • Alport syndrome, X-linked recessive4 tests
  • Alstrom syndrome3 tests
  • Alternating hemiplegia of childhood 12 tests
  • Alternating hemiplegia of childhood 22 tests
  • Alveolar rhabdomyosarcoma2 tests
  • Alzheimer disease 21 test
  • Alzheimer disease, type 37 tests
  • Alzheimer disease, type 47 tests
  • Alzheimer's disease7 tests
  • Aminoglycoside-induced deafness1 test
  • Amyloidogenic transthyretin amyloidosis2 tests
  • Amyotrophic lateral sclerosis and/or frontotemporal dementia 11 test
  • Amyotrophic lateral sclerosis type 15 tests
  • Amyotrophic lateral sclerosis type 106 tests
  • Amyotrophic lateral sclerosis type 62 tests
  • Amyotrophic lateral sclerosis type 95 tests
  • Amyotrophy, hereditary neuralgic2 tests
  • Andermann syndrome2 tests
  • Andersen Tawil syndrome1 test
  • Androgen resistance syndrome1 test
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
  • Angelman syndrome2 tests
  • Aniridia 12 tests
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
  • Aortic aneurysm, familial thoracic 46 tests
  • Aortic aneurysm, familial thoracic 67 tests
  • Aortic aneurysm, familial thoracic 71 test
  • Aortic aneurysm, familial thoracic 81 test
  • Aortic valve disorder1 test
  • Apolipoprotein C2 deficiency1 test
  • Apparent mineralocorticoid excess1 test
  • Arginase deficiency1 test
  • Aromatase deficiency1 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 109 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 111 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 121 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 89 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 99 tests
  • Arrhythmogenic right ventricular dysplasia, familial 12 tests
  • Arrhythmogenic right ventricular dysplasia, familial, 28 tests
  • Arterial calcification of infancy1 test
  • Arterial tortuosity syndrome1 test
  • Arts syndrome1 test
  • Asperger syndrome X-linked 11 test
  • Asphyxiating thoracic dystrophy 24 tests
  • Asphyxiating thoracic dystrophy 44 tests
  • Asphyxiating thoracic dystrophy 54 tests
  • Ataxia with vitamin E deficiency1 test
  • Ataxia-oculomotor apraxia type 11 test
  • Ataxia-telangiectasia syndrome2 tests
  • Ateleiotic dwarfism1 test
  • ATR-X syndrome3 tests
  • Atrial septal defect 7 with or without atrioventricular conduction defects1 test
  • Atrophia bulborum hereditaria1 test
  • Atypical hemolytic-uremic syndrome 14 tests
  • Atypical hemolytic-uremic syndrome 26 tests
  • Atypical hemolytic-uremic syndrome 31 test
  • Atypical hemolytic-uremic syndrome 41 test
  • Autism, susceptibility to, X-linked 22 tests
  • Autism, susceptibility to, X-linked 31 test
  • Autoimmune lymphoproliferative syndrome4 tests
  • Autoimmune lymphoproliferative syndrome, type 2A3 tests
  • Autosomal dominant hypohidrotic ectodermal dysplasia3 tests
  • Autosomal dominant hypophosphatemic rickets1 test
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 13 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 31 test
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 42 tests
  • Autosomal recessive centronuclear myopathy1 test
  • Autosomal recessive congenital ichthyosis 19 tests
  • Autosomal recessive congenital ichthyosis 103 tests
  • Autosomal recessive congenital ichthyosis 29 tests
  • Autosomal recessive congenital ichthyosis 4A9 tests
  • Autosomal recessive congenital ichthyosis 4B1 test
  • Autosomal recessive cutis laxa type 1B2 tests
  • Autosomal recessive cutis laxa type IA2 tests
  • Autosomal recessive hypohidrotic ectodermal dysplasia syndrome3 tests
  • Autosomal recessive polycystic kidney disease4 tests
  • Axenfeld-Rieger syndrome type 11 test
  • Axenfeld-Rieger syndrome type 34 tests
  • Azorean disease2 tests
  • Baraitser-Winter Syndrome 21 test
  • Barakat syndrome2 tests
  • Bardet-Biedl syndrome7 tests
  • Bardet-Biedl syndrome 32 tests
  • Bardet-Biedl syndrome 42 tests
  • Bare lymphocyte syndrome 24 tests
  • Bartter syndrome type 31 test
  • Bartter syndrome type 41 test
  • Bartter syndrome, type 1, antenatal2 tests
  • Bartter syndrome, type 2, antenatal2 tests
  • Bartter syndrome, type 4b1 test
  • Basal ganglia calcification, idiopathic, 43 tests
  • Beaded hair2 tests
  • Becker muscular dystrophy3 tests
  • Beckwith-Wiedemann syndrome1 test
  • Benign familial neonatal seizures 19 tests
  • Benign familial neonatal seizures 27 tests
  • Benign familial neonatal-infantile seizures7 tests
  • Benign hereditary chorea1 test
  • Benign recurrent intrahepatic cholestasis 21 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy1 test
  • Bent bone dysplasia syndrome1 test
  • Bernard Soulier syndrome3 tests
  • Bethlem myopathy 13 tests
  • Bifid nose with or without anorectal and renal anomalies1 test
  • Bifunctional peroxisomal enzyme deficiency1 test
  • Biotin-thiamine-responsive basal ganglia disease1 test
  • Biotinidase deficiency2 tests
  • Blau syndrome1 test
  • Blepharophimosis, ptosis, and epicanthus inversus2 tests
  • Bloom syndrome1 test
  • Body mass index quantitative trait locus 96 tests
  • Bothnia retinal dystrophy1 test
  • Brachydactyly type E13 tests
  • Brachydactyly type E23 tests
  • Brachydactyly-Mental Retardation syndrome1 test
  • Brachyrachia (short spine dysplasia)1 test
  • Brain small vessel disease with hemorrhage1 test
  • Branchiooculofacial syndrome1 test
  • Breast-ovarian cancer, familial 18 tests
  • Breast-ovarian cancer, familial 28 tests
  • Breast-ovarian cancer, familial 38 tests
  • Bruck syndrome 21 test
  • Brugada syndrome 11 test
  • Brugada syndrome 51 test
  • Bulbo-spinal atrophy X-linked1 test
  • Bull's eye macular dystrophy1 test
  • Bullous ichthyosiform erythroderma2 tests
  • C syndrome1 test
  • Camptodactyly arthropathy coxa vara pericarditis syndrome1 test
  • Camptomelic dysplasia3 tests
  • Carbohydrate-deficient glycoprotein syndrome type I3 tests
  • Cardiofaciocutaneous syndrome 13 tests
  • Cardiofaciocutaneous syndrome 21 test
  • Cardiofaciocutaneous syndrome 31 test
  • Cardiofaciocutaneous syndrome 42 tests
  • Cardiomyopathy, dilated, 1u1 test
  • Carnevale syndrome2 tests
  • Carney complex, type 11 test
  • Carnitine palmitoyltransferase I deficiency1 test
  • Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced2 tests
  • Caspase-8 deficiency1 test
  • Cataract 111 test
  • Cataract 401 test
  • Cataract, autosomal recessive congenital 22 tests
  • Catecholaminergic polymorphic ventricular tachycardia type 13 tests
  • Cerebellar ataxia infantile with progressive external ophthalmoplegia3 tests
  • Cerebral amyloid angiopathy, APP-related3 tests
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy3 tests
  • Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy1 test
  • Cerebral cavernous malformation6 tests
  • Cerebral cavernous malformations 26 tests
  • Cerebral cavernous malformations 36 tests
  • Cerebral folate deficiency1 test
  • Cerebroretinal microangiopathy with calcifications and cysts 11 test
  • Ceroid lipofuscinosis neuronal 110 tests
  • Ceroid lipofuscinosis neuronal 108 tests
  • Ceroid lipofuscinosis neuronal 28 tests
  • Ceroid lipofuscinosis neuronal 58 tests
  • Ceroid lipofuscinosis neuronal 69 tests
  • Ceroid lipofuscinosis neuronal 79 tests
  • Ceroid lipofuscinosis neuronal 88 tests
  • CFHR5 deficiency1 test
  • Char syndrome1 test
  • Charcot-Marie-Tooth disease and deafness1 test
  • Charcot-Marie-Tooth disease dominant intermediate 32 tests
  • Charcot-Marie-Tooth disease type 2B11 test
  • Charcot-Marie-Tooth disease type 2C2 tests
  • Charcot-Marie-Tooth disease type 2D2 tests
  • Charcot-Marie-Tooth disease type 2E2 tests
  • Charcot-Marie-Tooth disease type 2F1 test
  • Charcot-Marie-Tooth disease type 2I2 tests
  • Charcot-Marie-Tooth disease type 2J3 tests
  • Charcot-Marie-Tooth disease type 2K2 tests
  • Charcot-Marie-Tooth disease, axonal, type 2b1 test
  • Charcot-Marie-Tooth disease, axonal, type 2O1 test
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1b3 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1d1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1f2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 4f1 test
  • Charcot-Marie-Tooth disease, dominant intermediate B2 tests
  • Charcot-Marie-Tooth disease, recessive intermediate A1 test
  • Charcot-Marie-Tooth disease, type 1C1 test
  • Charcot-Marie-Tooth disease, type 2A11 test
  • Charcot-Marie-Tooth disease, type 2A2A3 tests
  • Charcot-Marie-Tooth disease, type 2L1 test
  • Charcot-Marie-Tooth disease, type 2N1 test
  • Charcot-Marie-Tooth disease, type 4A3 tests
  • Charcot-Marie-Tooth disease, type 4B12 tests
  • Charcot-Marie-Tooth disease, type 4C1 test
  • Charcot-Marie-Tooth disease, type 4D2 tests
  • Charcot-Marie-Tooth disease, type IA3 tests
  • Charcot-Marie-Tooth disease, X-linked recessive, type 51 test
  • CHARGE association1 test
  • Child syndrome1 test
  • Childhood hypophosphatasia3 tests
  • Cholestanol storage disease1 test
  • Cholesterol monooxygenase (side-chain cleaving) deficiency1 test
  • Chondrocalcinosis 21 test
  • Chondrodysplasia Blomstrand type1 test
  • Chondrodysplasia punctata 1, X-linked recessive1 test
  • Chondrodysplasia punctata 2 X-linked dominant1 test
  • Chondroectodermal dysplasia2 tests
  • Choreoacanthocytosis2 tests
  • Choroideremia2 tests
  • Chromosome 16-related alpha-thalassemia/mental retardation syndrome1 test
  • Chromosome 1q41-q42 deletion syndrome15 tests
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 11 test
  • Chronic granulomatous disease, X-linked1 test
  • Chronic infantile neurological, cutaneous and articular syndrome2 tests
  • Chronic lymphocytic leukemia1 test
  • Chudley-McCullough syndrome1 test
  • Chédiak-Higashi syndrome1 test
  • Ciliary dyskinesia, primary, 37 tests
  • Ciliary dyskinesia, primary, 77 tests
  • Citrullinemia type I1 test
  • Citrullinemia type II1 test
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
  • Cleidocranial dysostosis1 test
  • Cockayne syndrome B2 tests
  • Cockayne syndrome type A2 tests
  • Coenzyme Q10 deficiency, primary, 41 test
  • Coffin-Lowry syndrome1 test
  • Coffin-Siris syndrome 12 tests
  • Cohen syndrome4 tests
  • Combined deficiency of sialidase AND beta galactosidase1 test
  • Combined saposin deficiency1 test
  • Common variable immunodeficiency 11 test
  • Complement component 3 deficiency, autosomal recessive1 test
  • Complement factor B deficiency1 test
  • Cone dystrophy 45 tests
  • Cone-rod dystrophy 22 tests
  • Cone-rod dystrophy 31 test
  • Cone-rod dystrophy 61 test
  • Cone-rod dystrophy, X-linked 15 tests
  • Congenital adrenal hypoplasia, X-linked2 tests
  • Congenital amegakaryocytic thrombocytopenia1 test
  • Congenital aneurysm of ascending aorta6 tests
  • Congenital central hypoventilation1 test
  • Congenital contractural arachnodactyly3 tests
  • Congenital disorder of glycosylation type 1B3 tests
  • Congenital disorder of glycosylation type 1C3 tests
  • Congenital disorder of glycosylation type 2H1 test
  • Congenital dyserythropoietic anemia, type I2 tests
  • Congenital dyserythropoietic anemia, type II2 tests
  • Congenital ectodermal dysplasia of face1 test
  • Congenital erythropoietic porphyria1 test
  • Congenital generalized lipodystrophy type 14 tests
  • Congenital generalized lipodystrophy type 24 tests
  • Congenital glucose-galactose malabsorption1 test
  • Congenital hypomyelinating neuropathy 1, autosomal recessive3 tests
  • Congenital lactase deficiency2 tests
  • Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B55 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A25 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B65 tests
  • Congenital muscular hypertrophy-cerebral syndrome5 tests
  • Congenital myopathy with fiber type disproportion4 tests
  • Congenital myotonia, autosomal recessive form1 test
  • Congenital secretory diarrhea, chloride type1 test
  • Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
  • Corneal endothelial dystrophy type 21 test
  • Cornelia de Lange syndrome 15 tests
  • Cornelia de Lange syndrome 35 tests
  • Corticosterone methyloxidase type 1 deficiency1 test
  • Costello syndrome3 tests
  • Cowden syndrome 12 tests
  • Craniofacial deafness hand syndrome2 tests
  • Craniofrontonasal dysplasia1 test
  • Craniosynostosis 21 test
  • Creatine deficiency, X-linked1 test
  • Crigler-Najjar syndrome1 test
  • Crouzon syndrome4 tests
  • Crouzon syndrome with acanthosis nigricans2 tests
  • Cryptophthalmos syndrome2 tests
  • Currarino triad1 test
  • Curry-Hall syndrome1 test
  • Cutis Gyrata syndrome of Beare and Stevenson1 test
  • Cutis laxa with osteodystrophy1 test
  • Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities1 test
  • Cutis laxa, autosomal dominant 11 test
  • Cyclical neutropenia1 test
  • Cystic fibrosis5 tests
  • Cystinuria3 tests
  • D-2-hydroxyglutaric aciduria 11 test
  • Deafness, autosomal dominant 102 tests
  • Deafness, autosomal dominant 126 tests
  • Deafness, autosomal dominant 2b1 test
  • Deafness, autosomal dominant 92 tests
  • Deafness, autosomal recessive 1A8 tests
  • Deafness, autosomal recessive 97 tests
  • Deafness, nonsyndromic sensorineural, mitochondrial5 tests
  • Deafness, X-linked 11 test
  • Deficiency of acetyl-CoA acetyltransferase1 test
  • Deficiency of alpha-mannosidase2 tests
  • Deficiency of butyryl-CoA dehydrogenase2 tests
  • Deficiency of ferroxidase1 test
  • Deficiency of galactokinase1 test
  • Deficiency of guanidinoacetate methyltransferase1 test
  • Deficiency of iodide peroxidase2 tests
  • Deficiency of isobutyryl-CoA dehydrogenase1 test
  • Deficiency of pyrroline-5-carboxylate reductase1 test
  • Deficiency of steroid 11-beta-monooxygenase1 test
  • Deficiency of steroid 17-alpha-monooxygenase1 test
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
  • Deficiency of xanthine oxidase1 test
  • Dejerine-Sottas disease3 tests
  • Dementia familial British3 tests
  • Dementia, familial Danish3 tests
  • Dent disease 11 test
  • Dentatorubral pallidoluysian atrophy1 test
  • Dentinogenesis imperfecta - Shield's type II1 test
  • Desbuquois dysplasia 11 test
  • Diabetes mellitus AND insipidus with optic atrophy AND deafness2 tests
  • Diabetes mellitus type 21 test
  • Diamond-Blackfan anemia 19 tests
  • Diamond-Blackfan anemia 109 tests
  • Diamond-Blackfan anemia 39 tests
  • Diamond-Blackfan anemia 49 tests
  • Diamond-Blackfan anemia 59 tests
  • Diamond-Blackfan anemia 79 tests
  • Diamond-Blackfan anemia 99 tests
  • Diarrhea 4, malabsorptive, congenital1 test
  • Diarrhea 5, with tufting enteropathy, congenital1 test
  • Diastrophic dysplasia2 tests
  • Diffuse mesangial sclerosis1 test
  • DiGeorge sequence1 test
  • Dihydropyrimidine dehydrogenase deficiency2 tests
  • Dilated cardiomyopathy 1A5 tests
  • Dilated cardiomyopathy 1C2 tests
  • Dilated cardiomyopathy 1E1 test
  • Dilated cardiomyopathy 1I1 test
  • Dilated cardiomyopathy 1N2 tests
  • Dilated cardiomyopathy 1V1 test
  • Disorder due cytochrome p450 CYP1A21 test
  • Distal arthrogryposis type 2B2 tests
  • Distal hereditary motor neuronopathy type 51 test
  • Distichiasis-lymphedema syndrome1 test
  • Dominant hereditary optic atrophy2 tests
  • Doyne honeycomb retinal dystrophy2 tests
  • Duane-radial ray syndrome1 test
  • Dubin-Johnson syndrome1 test
  • Duchenne muscular dystrophy3 tests
  • Dyggve-Melchior-Clausen syndrome1 test
  • Dyskeratosis congenita autosomal dominant3 tests
  • Dyskeratosis congenita X-linked1 test
  • Dysostosis multiplex2 tests
  • Dystonia 12 tests
  • Dystonia 101 test
  • Dystonia 161 test
  • Dystonia 231 test
  • Dystonia 5, Dopa-responsive type2 tests
  • Dystonia 6, torsion1 test
  • Dystonia 91 test
  • Early infantile epileptic encephalopathy 111 test
  • Early infantile epileptic encephalopathy 132 tests
  • Early infantile epileptic encephalopathy 161 test
  • Early infantile epileptic encephalopathy 21 test
  • Early infantile epileptic encephalopathy 42 tests
  • Early infantile epileptic encephalopathy 51 test
  • Early infantile epileptic encephalopathy 71 test
  • Early infantile epileptic encephalopathy 92 tests
  • Early myoclonic encephalopathy1 test
  • Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant1 test
  • Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive1 test
  • Ectopia lentis, isolated autosomal recessive1 test
  • Ectopia lentis, isolated, autosomal dominant1 test
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 33 tests
  • EEM syndrome1 test
  • Ehlers-Danlos syndrome, classic type4 tests
  • Ehlers-Danlos syndrome, hydroxylysine-deficient2 tests
  • Ehlers-Danlos syndrome, musculocontractural type1 test
  • Ehlers-Danlos syndrome, type 35 tests
  • Ehlers-Danlos syndrome, type 43 tests
  • Ehlers-Danlos syndrome, type vii, autosomal recessive1 test
  • Eichsfeld type congenital muscular dystrophy1 test
  • Elliptocytosis 14 tests
  • Emery-Dreifuss muscular dystrophy 1, X-linked2 tests
  • Encephalopathy, acute, infection-induced, 3, suceptibility to1 test
  • Endometrial carcinoma2 tests
  • Endplate acetylcholinesterase deficiency1 test
  • EPIDERMODYSPLASIA VERRUCIFORMIS2 tests
  • Epidermolysa bullosa simplex and limb girdle muscular dystrophy4 tests
  • Epidermolysis bullosa junctionalis with pyloric atresia2 tests
  • Epidermolysis bullosa simplex with mottled pigmentation4 tests
  • Epidermolysis bullosa simplex, autosomal recessive6 tests
  • Epilepsy, childhood absence 21 test
  • Epilepsy, familial focal, with variable foci 11 test
  • Epilepsy, focal, with speech disorder and with or without mental retardation1 test
  • Epilepsy, idiopathic generalized 101 test
  • Epilepsy, idiopathic generalized 91 test
  • Epilepsy, idiopathic generalized, susceptibility to, 121 test
  • Epilepsy, juvenile myoclonic 52 tests
  • Epilepsy, lateral temporal lobe, autosomal dominant2 tests
  • Epilepsy, nocturnal frontal lobe, type 15 tests
  • Epilepsy, nocturnal frontal lobe, type 24 tests
  • Epilepsy, nocturnal frontal lobe, type 35 tests
  • Epilepsy, nocturnal frontal lobe, type 45 tests
  • Epilepsy, progressive myoclonic 31 test
  • Epileptic encephalopathy Lennox-Gastaut type1 test
  • Epileptic encephalopathy, early infantile, 11 test
  • Episodic ataxia type 12 tests
  • Episodic ataxia type 24 tests
  • Episodic ataxia, type 51 test
  • Episodic ataxia, type 61 test
  • Erythrokeratodermia variabilis1 test
  • Erythropoietic protoporphyria3 tests
  • Essential hypertension1 test
  • Ethylmalonic encephalopathy1 test
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis1 test
  • Exudative retinopathy1 test
  • Exudative vitreoretinopathy 12 tests
  • Exudative vitreoretinopathy 42 tests
  • Exudative vitreoretinopathy 52 tests
  • Fabry disease1 test
  • Factor H deficiency1 test
  • Factor VII deficiency1 test
  • Factor XIII subunit A deficiency2 tests
  • Factor XIII subunit B deficiency2 tests
  • Familial adenomatous polyposis 14 tests
  • Familial amyloid nephropathy with urticaria AND deafness2 tests
  • Familial cancer of breast8 tests
  • Familial cold autoinflammatory syndrome 24 tests
  • Familial cold urticaria4 tests
  • Familial dysautonomia2 tests
  • Familial erythrocytosis, 11 test
  • Familial exudative vitreoretinopathy, X-linked1 test
  • Familial febrile seizures 82 tests
  • Familial hemiplegic migraine type 11 test
  • Familial hemiplegic migraine type 25 tests
  • Familial hemiplegic migraine type 35 tests
  • Familial hyperaldosteronism type 31 test
  • Familial hypercholesterolemia4 tests
  • Familial hypertriglyceridemia3 tests
  • Familial hypertrophic cardiomyopathy 111 tests
  • Familial hypertrophic cardiomyopathy 105 tests
  • Familial hypertrophic cardiomyopathy 114 tests
  • Familial hypertrophic cardiomyopathy 132 tests
  • Familial hypertrophic cardiomyopathy 142 tests
  • Familial hypertrophic cardiomyopathy 151 test
  • Familial hypertrophic cardiomyopathy 211 tests
  • Familial hypertrophic cardiomyopathy 310 tests
  • Familial hypertrophic cardiomyopathy 410 tests
  • Familial hypertrophic cardiomyopathy 61 test
  • Familial hypertrophic cardiomyopathy 86 tests
  • Familial hypokalemia-hypomagnesemia1 test
  • Familial hypoplastic, glomerulocystic kidney1 test
  • Familial infantile myasthenia1 test
  • Familial juvenile gout2 tests
  • Familial Mediterranean fever3 tests
  • Familial medullary thyroid carcinoma4 tests
  • Familial platelet disorder with associated myeloid malignancy1 test
  • Familial pulmonary capillary hemangiomatosis2 tests
  • Familial renal glucosuria1 test
  • Familial restrictive cardiomyopathy 111 tests
  • Familial X-linked hypophosphatemic vitamin D refractory rickets1 test
  • Fanconi anemia, complementation group A7 tests
  • Fanconi anemia, complementation group B7 tests
  • Fanconi anemia, complementation group C7 tests
  • Fanconi anemia, complementation group G7 tests
  • Fanconi-Bickel syndrome1 test
  • Fatal familial insomnia1 test
  • Feingold syndrome 11 test
  • Fibrochondrogenesis1 test
  • Fibrochondrogenesis 21 test
  • Fibrosis of extraocular muscles, congenital, 12 tests
  • Fibrous dysplasia of jaw2 tests
  • Fibular hypoplasia and complex brachydactyly1 test
  • Finnish congenital nephrotic syndrome4 tests
  • Floating-Harbor syndrome2 tests
  • Focal cortical dysplasia type II1 test
  • Focal dermal hypoplasia1 test
  • Focal segmental glomerulosclerosis 12 tests
  • Follicular lymphoma 11 test
  • Fragile X syndrome3 tests
  • Freeman-Sheldon syndrome1 test
  • Friedreich ataxia 12 tests
  • Frontonasal dysplasia 12 tests
  • Frontonasal dysplasia 21 test
  • Frontonasal dysplasia 31 test
  • Frontotemporal dementia6 tests
  • Frontotemporal Dementia, Chromosome 3-Linked5 tests
  • Frontotemporal dementia, ubiquitin-positive6 tests
  • Fructose-biphosphatase deficiency1 test
  • Fukuyama congenital muscular dystrophy5 tests
  • Fumarase deficiency2 tests
  • Galactosylceramide beta-galactosidase deficiency3 tests
  • Gastrointestinal stroma tumor1 test
  • GATA-1-related thrombocytopenia with dyserythropoiesis1 test
  • Gaucher disease type 3C2 tests
  • Gaucher disease, perinatal lethal2 tests
  • Gaucher's disease, type 12 tests
  • Gaze palsy, familial horizontal, with progressive scoliosis1 test
  • Geleophysic dysplasia 11 test
  • Generalized dominant dystrophic epidermolysis bullosa2 tests
  • Generalized epilepsy with febrile seizures plus, type 17 tests
  • Generalized epilepsy with febrile seizures plus, type 21 test
  • Generalized epilepsy with febrile seizures plus, type 71 test
  • Genitopatellar syndrome2 tests
  • Gerstmann-Straussler-Scheinker syndrome1 test
  • Giant axonal neuropathy1 test
  • Gilbert's syndrome2 tests
  • Glanzmann thrombasthenia2 tests
  • Glaucoma 1, open angle, G1 test
  • Glaucoma 3, primary congenital, A2 tests
  • Glaucoma 3, primary congenital, d2 tests
  • Globozoospermia3 tests
  • Glucocorticoid deficiency 22 tests
  • Glucose-6-phosphate transport defect2 tests
  • GLUT1 deficiency syndrome 12 tests
  • GLUT1 deficiency syndrome 23 tests
  • Glutaric aciduria, type 11 test
  • Glutaric aciduria, type 23 tests
  • Gluthathione synthetase deficiency1 test
  • Glycogen storage disease IXb1 test
  • Glycogen storage disease IXd1 test
  • Glycogen storage disease type 1A1 test
  • Glycogen storage disease type III2 tests
  • Glycogen storage disease type IXa11 test
  • Glycogen storage disease type X1 test
  • Glycogen storage disease, type II2 tests
  • Glycogen storage disease, type IV1 test
  • Glycogen storage disease, type V2 tests
  • Glycogen storage disease, type VI1 test
  • Gorlin syndrome2 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
  • Griscelli syndrome type 11 test
  • Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate1 test
  • Hajdu-Cheney syndrome2 tests
  • Hay-Wells syndrome of ectodermal dysplasia3 tests
  • Hb SS disease1 test
  • Hecht syndrome1 test
  • Heinz body anemia1 test
  • Hemochromatosis type 12 tests
  • Hemochromatosis type 2A1 test
  • Hemochromatosis type 32 tests
  • Hemochromatosis type 41 test
  • Hemochromatosis type 52 tests
  • Hemoglobin H1 test
  • Hemolytic anemia due to hexokinase deficiency1 test
  • Hemophagocytic lymphohistiocytosis, familial, 21 test
  • Hemophagocytic lymphohistiocytosis, familial, 31 test
  • Hemophagocytic lymphohistiocytosis, familial, 41 test
  • Hemophagocytic lymphohistiocytosis, familial, 51 test
  • Hemorrhage, intracerebral, susceptibility to3 tests
  • Hennekam lymphangiectasia-lymphedema syndrome1 test
  • Hepatic methionine adenosyltransferase deficiency1 test
  • Hepatitis c virus, susceptibility to1 test
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary angioedema type 13 tests
  • Hereditary cerebral amyloid angiopathy, Icelandic type3 tests
  • Hereditary coproporphyria1 test
  • Hereditary diffuse gastric cancer2 tests
  • Hereditary diffuse leukoencephalopathy with spheroids1 test
  • Hereditary factor IX deficiency disease1 test
  • Hereditary factor VIII deficiency disease2 tests
  • Hereditary fructosuria2 tests
  • Hereditary hemorrhagic telangiectasia type 23 tests
  • Hereditary insensitivity to pain with anhidrosis1 test
  • Hereditary liability to pressure palsies1 test
  • Hereditary lymphedema type I1 test
  • Hereditary nonpolyposis colorectal cancer type 52 tests
  • Hereditary nonpolyposis colorectal cancer type 81 test
  • Hereditary pancreatitis6 tests
  • Hereditary sensory and autonomic neuropathy type IC1 test
  • Hermansky Pudlak syndrome 21 test
  • Heterotaxy, visceral, 2, autosomal5 tests
  • Heterotaxy, visceral, 4, autosomal5 tests
  • Heterotaxy, visceral, X-linked5 tests
  • Hidrotic ectodermal dysplasia syndrome2 tests
  • Histiocytic medullary reticulosis4 tests
  • Histiocytosis-lymphadenopathy plus syndrome1 test
  • Holoprosencephaly 1115 tests
  • Holoprosencephaly 215 tests
  • Holoprosencephaly 31 test
  • Holoprosencephaly 415 tests
  • Holoprosencephaly 715 tests
  • Holoprosencephaly 815 tests
  • Holoprosencephaly 915 tests
  • Holt-Oram syndrome1 test
  • Homocystinuria due to CBS deficiency2 tests
  • Huntington disease-like 11 test
  • Huntington's chorea1 test
  • Hyaline fibromatosis syndrome1 test
  • Hydatidiform mole1 test
  • Hydatidiform mole, recurrent, 21 test
  • Hydrolethalus syndrome 11 test
  • Hyperalphalipoproteinemia 21 test
  • Hyperapobetalipoproteinemia1 test
  • Hypercholesterolemia, autosomal dominant, 31 test
  • Hypercholesterolemia, autosomal dominant, type B4 tests
  • Hypercholesterolemia, autosomal recessive2 tests
  • Hyperekplexia 23 tests
  • Hyperekplexia 33 tests
  • Hyperekplexia hereditary3 tests
  • Hyperferritinemia cataract syndrome1 test
  • Hyperimmunoglobulin D with periodic fever2 tests
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive3 tests
  • Hyperimmunoglobulin E syndrome2 tests
  • Hyperinsulinism-hyperammonemia syndrome1 test
  • Hyperkalemic Periodic Paralysis Type 14 tests
  • Hyperlipidemia, combined, 11 test
  • Hyperlipoproteinemia, type I3 tests
  • Hyperparathyroidism 22 tests
  • Hyperphenylalaninemia, BH4-deficient, D1 test
  • Hyperthyroidism, nonautoimmune2 tests
  • Hypertrichotic osteochondrodysplasia1 test
  • Hypobetalipoproteinemia, familial, 12 tests
  • Hypobetalipoproteinemia, familial, 21 test
  • Hypocalciuric hypercalcemia, familial, type 11 test
  • Hypochondroplasia3 tests
  • Hypoglycemia with deficiency of glycogen synthetase in the liver1 test
  • Hypogonadotropic hypogonadism 4 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 7 with or without anosmia1 test
  • Hypohidrotic X-linked ectodermal dysplasia3 tests
  • Hypokalemic periodic paralysis 16 tests
  • Hypomagnesemia 1, intestinal1 test
  • Hypomagnesemia 5, renal, with ocular involvement1 test
  • Hypomyelinating leukodystrophy 71 test
  • Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism1 test
  • Hypomyelination and Congenital Cataract1 test
  • Hypoparathyroidism retardation dysmorphism syndrome1 test
  • Hypoplastic left heart syndrome 11 test
  • I cell disease3 tests
  • Ichthyosis bullosa of Siemens1 test
  • Ichthyosis vulgaris2 tests
  • Idiopathic basal ganglia calcification 13 tests
  • Idiopathic basal ganglia calcification 53 tests
  • Idiopathic fibrosing alveolitis, chronic form3 tests
  • IFAP syndrome with or without BRESHECK syndrome1 test
  • Immunodeficiency with hyper IgM type 21 test
  • Incontinentia pigmenti syndrome3 tests
  • Infantile GM1 gangliosidosis1 test
  • Infantile hypophosphatasia2 tests
  • Infantile neuroaxonal dystrophy2 tests
  • Infantile nystagmus, X-linked1 test
  • Inflammatory bowel disease 11 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome2 tests
  • Insulin-like growth factor I deficiency1 test
  • Iodotyrosyl coupling defect2 tests
  • Irido-corneo-trabecular dysgenesis2 tests
  • Ischemic stroke1 test
  • Isolated growth hormone deficiency type 1B1 test
  • Isovaleryl-CoA dehydrogenase deficiency1 test
  • Jackson-Weiss syndrome1 test
  • Jakob-Creutzfeldt disease1 test
  • Johanson-Blizzard syndrome1 test
  • Joubert syndrome1 test
  • Joubert syndrome 102 tests
  • Joubert syndrome 141 test
  • Joubert syndrome 151 test
  • Joubert syndrome 22 tests
  • Joubert syndrome 32 tests
  • Joubert syndrome 43 tests
  • Joubert syndrome 53 tests
  • Joubert syndrome 62 tests
  • Joubert syndrome 73 tests
  • Joubert syndrome 82 tests
  • Joubert syndrome 92 tests
  • Junctional epidermolysis bullosa gravis of Herlitz4 tests
  • Juvenile myoclonic epilepsy2 tests
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke6 tests
  • Juvenile neuronal ceroid lipofuscinosis8 tests
  • Juvenile polyposis syndrome3 tests
  • Juvenile retinoschisis1 test
  • Juvenile-onset dystonia1 test
  • Kabuki syndrome 15 tests
  • Kabuki syndrome 25 tests
  • Kallmann syndrome 12 tests
  • Kallmann syndrome 23 tests
  • Kartagener syndrome7 tests
  • KBG syndrome1 test
  • Kenny-Caffey syndrome type 11 test
  • Keratosis follicularis1 test
  • Keratosis palmoplantaris striata 13 tests
  • Keratosis palmoplantaris striata 33 tests
  • Keratosis palmoplantaris striata II3 tests
  • Klein-Waardenberg's syndrome2 tests
  • Klippel-Feil syndrome 1, autosomal dominant3 tests
  • Koolen-de Vries syndrome3 tests
  • Kugelberg-Welander disease1 test
  • Lafora disease1 test
  • Langer-Giedion syndrome2 tests
  • Laron-type isolated somatotropin defect1 test
  • Larsen syndrome, dominant type2 tests
  • Leber congenital amaurosis 112 tests
  • Leber congenital amaurosis 1011 tests
  • Leber congenital amaurosis 1111 tests
  • Leber congenital amaurosis 1311 tests
  • Leber congenital amaurosis 1411 tests
  • Leber congenital amaurosis 71 test
  • Leber's optic atrophy2 tests
  • Left ventricular noncompaction 11 test
  • Legius syndrome3 tests
  • Leigh syndrome3 tests
  • LEOPARD syndrome 15 tests
  • Leprechaunism syndrome1 test
  • Leptin receptor deficiency1 test
  • Leri Weill dyschondrosteosis2 tests
  • Lesch-Nyhan syndrome1 test
  • Lethal congenital contracture syndrome 11 test
  • Lethal multiple pterygium syndrome3 tests
  • Leukocyte adhesion deficiency type 11 test
  • Leukodystrophy, hypomyelinating, 41 test
  • Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation1 test
  • Leukoencephalopathy with vanishing white matter6 tests
  • Levy-Hollister syndrome1 test
  • Leydig cell agenesis1 test
  • Li-Fraumeni syndrome 11 test
  • Limb-girdle muscular dystrophy, type 1A2 tests
  • Limb-girdle muscular dystrophy, type 1B1 test
  • Limb-girdle muscular dystrophy, type 1C1 test
  • Limb-girdle muscular dystrophy, type 2A1 test
  • Limb-girdle muscular dystrophy, type 2B1 test
  • Limb-girdle muscular dystrophy, type 2D2 tests
  • Limb-girdle muscular dystrophy, type 2E1 test
  • Limb-girdle muscular dystrophy, type 2F1 test
  • Limb-girdle muscular dystrophy, type 2G1 test
  • Limb-girdle muscular dystrophy, type 2J1 test
  • Limb-girdle muscular dystrophy, type 2L2 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C41 test
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C52 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C91 test
  • Lissencephaly 13 tests
  • Lissencephaly 23 tests
  • Lissencephaly 2, X-linked3 tests
  • Lissencephaly 41 test
  • Lissencephaly, X-linked3 tests
  • Localized epidermolytic hyperkeratosis3 tests
  • Loeys-Dietz syndrome 15 tests
  • Loeys-Dietz syndrome 28 tests
  • Long QT syndrome 110 tests
  • Long QT syndrome 22 tests
  • Long QT syndrome 310 tests
  • Long QT syndrome 51 test
  • Long QT syndrome 61 test
  • Long QT syndrome 91 test
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency2 tests
  • Lowe syndrome2 tests
  • Lung cancer2 tests
  • Lymphedema, primary, with myelodysplasia1 test
  • Lymphoproliferative syndrome 1, X-linked3 tests
  • Lymphoproliferative syndrome 2, X-linked3 tests
  • Lynch syndrome I8 tests
  • Lynch syndrome II7 tests
  • Lysinuric protein intolerance1 test
  • Lysosomal acid lipase deficiency1 test
  • Macrocephaly/autism syndrome2 tests
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
  • Macular dystrophy, vitelliform, adult-onset2 tests
  • Malignant hyperthermia, susceptibility to, 13 tests
  • Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive5 tests
  • Maple syrup urine disease5 tests
  • Marfan syndrome5 tests
  • Marinesco-Sjögren syndrome1 test
  • Marshall syndrome2 tests
  • Marshall-Smith syndrome1 test
  • Maturity-onset diabetes of the young, type 12 tests
  • Maturity-onset diabetes of the young, type 22 tests
  • Maturity-onset diabetes of the young, type 32 tests
  • McCune-Albright syndrome1 test
  • McKusick Kaufman syndrome1 test
  • McLeod neuroacanthocytosis syndrome1 test
  • Meckel syndrome type 12 tests
  • Meckel syndrome type 21 test
  • Meckel syndrome type 31 test
  • Meckel syndrome type 42 tests
  • Meckel syndrome type 51 test
  • Meckel syndrome type 61 test
  • MECP2 duplication syndrome1 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
  • Medullary cystic kidney disease 23 tests
  • Medulloblastoma1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 12 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 13 tests
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
  • Meier-Gorlin syndrome 11 test
  • Melanoma-pancreatic cancer syndrome3 tests
  • Melnick-Fraser syndrome2 tests
  • Melorheostosis1 test
  • Menkes kinky-hair syndrome2 tests
  • Mental retardation 3, X-linked2 tests
  • Mental retardation with panhypopituitarism, X-linked1 test
  • Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1 test
  • Mental retardation, autosomal dominant 131 test
  • Mental retardation, autosomal dominant 142 tests
  • Mental retardation, autosomal dominant 51 test
  • Mental retardation, with or without seizures, ARX-related, X-linked2 tests
  • Mental retardation, X-linked, syndromic 131 test
  • Mental retardation, X-linked, syndromic, Hedera type1 test
  • Merosin deficient congenital muscular dystrophy2 tests
  • Metachromatic leukodystrophy2 tests
  • Metaphyseal chondrodysplasia, Schmid type1 test
  • Metaphyseal dysplasia without hypotrichosis1 test
  • Metaphyseal dysplasia, anetoderma, and optic atrophy1 test
  • METHYLCOBALAMIN DEFICIENCY, cblG TYPE8 tests
  • Methylmalonic acidemia with homocystinuria cblD8 tests
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE1 test
  • Methylmalonic aciduria cblA type9 tests
  • Methylmalonic aciduria cblB type9 tests
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency12 tests
  • Methylmalonyl-CoA epimerase deficiency8 tests
  • Mevalonic aciduria1 test
  • Michels syndrome2 tests
  • Microcephalic osteodysplastic primordial dwarfism type 21 test
  • Microcephaly, normal intelligence and immunodeficiency6 tests
  • Microcephaly-capillary malformation syndrome1 test
  • Microcytic anemia1 test
  • Microphthalmia syndromic 32 tests
  • Microphthalmia syndromic 91 test
  • Microphthalmia, isolated 22 tests
  • Microphthalmia, isolated 52 tests
  • Microphthalmia, isolated 62 tests
  • Microphthalmia, isolated, with coloboma 32 tests
  • Minicore myopathy2 tests
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type1 test
  • Mitochondrial DNA-depletion syndrome 3, hepatocerebral1 test
  • Mitochondrial trifunctional protein deficiency1 test
  • Miyoshi muscular dystrophy 12 tests
  • Mohr-Tranebjaerg syndrome2 tests
  • Molybdenum cofactor deficiency, complementation group A1 test
  • Mowat-Wilson syndrome2 tests
  • Mucolipidosis III Gamma1 test
  • Mucopolysaccharidosis type VI1 test
  • Mucopolysaccharidosis type VII1 test
  • Mucopolysaccharidosis, MPS-II2 tests
  • Mucopolysaccharidosis, MPS-III-A1 test
  • Mucopolysaccharidosis, MPS-III-B1 test
  • Mucopolysaccharidosis, MPS-III-C1 test
  • Mucopolysaccharidosis, MPS-III-D1 test
  • Mucopolysaccharidosis, MPS-IV-A1 test
  • Mucopolysaccharidosis, MPS-IV-B1 test
  • Muenke syndrome1 test
  • Mullerian aplasia and hyperandrogenism1 test
  • Multiple congenital exostosis4 tests
  • Multiple cutaneous leiomyomas2 tests
  • Multiple endocrine neoplasia, type 12 tests
  • Multiple endocrine neoplasia, type 2a3 tests
  • Multiple endocrine neoplasia, type 2b2 tests
  • Multiple endocrine neoplasia, type 41 test
  • Multiple epiphyseal dysplasia 19 tests
  • Multiple epiphyseal dysplasia 42 tests
  • Multiple exostoses type 24 tests
  • Multiple fibrofolliculomas2 tests
  • Multiple pterygium syndrome Escobar type1 test
  • Muscle AMP deaminase deficiency1 test
  • Muscle eye brain disease1 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 15 tests
  • Myasthenia, limb-girdle, familial1 test
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency4 tests
  • MYH-associated polyposis3 tests
  • Myoclonic dystonia4 tests
  • Myoclonus with epilepsy with ragged red fibers2 tests
  • Myofibrillar myopathy 11 test
  • Myofibrillar myopathy 31 test
  • Myofibrillar myopathy, filamin C-related1 test
  • Myoglobinuria, acute recurrent, autosomal recessive1 test
  • Myopathy with lactic acidosis, hereditary1 test
  • Myopathy, Central Core3 tests
  • Myopathy, centronuclear, 12 tests
  • Myopathy, distal, 11 test
  • Myopathy, distal, 41 test
  • Myosin storage myopathy1 test
  • Myotonic dystrophy type 22 tests
  • Nail-patella syndrome1 test
  • Navajo neurohepatopathy2 tests
  • Nemaline myopathy 12 tests
  • Nemaline myopathy 34 tests
  • Nemaline myopathy 52 tests
  • Nemaline myopathy 74 tests
  • Nephrogenic diabetes insipidus, autosomal1 test
  • Nephrogenic diabetes insipidus, X-linked1 test
  • Nephronophthisis 11 test
  • Nephronophthisis 42 tests
  • Nephronophthisis 72 tests
  • Nephronophthisis 91 test
  • Nephropathic cystinosis3 tests
  • Nephrotic syndrome, idiopathic, steroid-resistant5 tests
  • Nephrotic syndrome, type 31 test
  • Nephrotic syndrome, type 5, with or without ocular abnormalities1 test
  • Nephrotic syndrome, type 71 test
  • Netherton syndrome1 test
  • Neuroblastoma 32 tests
  • Neurofibromatosis, type 14 tests
  • Neurofibromatosis, type 22 tests
  • Neurohypophyseal diabetes insipidus1 test
  • Neuropathy ataxia retinitis pigmentosa syndrome2 tests
  • Neuropathy hereditary sensory and autonomic type 11 test
  • Neutral lipid storage disease with myopathy1 test
  • Nicolaides-Baraitser syndrome1 test
  • Niemann-Pick disease type C13 tests
  • Niemann-Pick disease type C23 tests
  • Niemann-Pick disease, type A2 tests
  • Niemann-Pick disease, type B2 tests
  • Non-ketotic hyperglycinemia4 tests
  • Nonaka myopathy1 test
  • Nonepidermolytic palmoplantar keratoderma2 tests
  • Nonpersistence of intestinal lactase1 test
  • Noonan syndrome 110 tests
  • Noonan syndrome 310 tests
  • Noonan syndrome 410 tests
  • Noonan syndrome 510 tests
  • Noonan syndrome 69 tests
  • Noonan syndrome 78 tests
  • Noonan syndrome-like disorder with loose anagen hair 12 tests
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia2 tests
  • Norum disease1 test
  • NSDHL-Related Disorders1 test
  • Obesity8 tests
  • Ocular albinism, type I2 tests
  • Oculofaciocardiodental syndrome1 test
  • Oculopharyngeal muscular dystrophy1 test
  • Odontoonychodermal dysplasia2 tests
  • Oguchi disease 22 tests
  • Oguchi's disease2 tests
  • Opitz-Frias syndrome2 tests
  • Optic atrophy 71 test
  • Optic atrophy and cataract, autosomal dominant1 test
  • Ornithine carbamoyltransferase deficiency2 tests
  • Orofacial cleft 111 test
  • Orotic aciduria1 test
  • Osler hemorrhagic telangiectasia syndrome2 tests
  • Osteodysplastic primordial dwarfism, type 11 test
  • Osteogenesis imperfecta type 51 test
  • Osteogenesis imperfecta type 73 tests
  • Osteogenesis imperfecta type 81 test
  • Osteogenesis imperfecta type 91 test
  • Osteogenesis imperfecta type I8 tests
  • Osteogenesis imperfecta type III8 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form8 tests
  • Osteogenesis imperfecta, recessive perinatal lethal8 tests
  • Osteomyelitis, sterile multifocal, with periostitis and pustulosis2 tests
  • Osteopathia striata with cranial sclerosis1 test
  • Osteopetrosis autosomal dominant type 21 test
  • Osteopetrosis autosomal recessive 11 test
  • Osteopetrosis autosomal recessive 21 test
  • Osteopetrosis autosomal recessive 41 test
  • Osteopetrosis with renal tubular acidosis1 test
  • Osteopetrosis, autosomal recessive 51 test
  • Oto-palato-digital syndrome, type II1 test
  • Otofaciocervical syndrome 12 tests
  • Otospondylomegaepiphyseal dysplasia1 test
  • Ovarian dysgenesis 12 tests
  • Ovarian dysgenesis 22 tests
  • Pachydermoperiostosis syndrome1 test
  • Pachyonychia congenita 14 tests
  • Pachyonychia congenita 24 tests
  • Pallister-Hall syndrome2 tests
  • Pancreatic lipase deficiency1 test
  • Papillon-Lefèvre syndrome1 test
  • Paraganglioma and gastric stromal sarcoma5 tests
  • Paragangliomas 13 tests
  • Paragangliomas 33 tests
  • Paragangliomas 43 tests
  • Paramyotonia congenita of von Eulenburg1 test
  • Parkes Weber syndrome1 test
  • Parkinson disease 14 tests
  • Parkinson disease 141 test
  • Parkinson disease 22 tests
  • Parkinson disease 6, autosomal recessive early-onset1 test
  • Parkinson disease 71 test
  • Parkinson disease 8, autosomal dominant2 tests
  • Parkinson disease 91 test
  • Paroxysmal nocturnal hemoglobinuria 11 test
  • Partington X-linked mental retardation syndrome2 tests
  • Pelizaeus-Merzbacher disease3 tests
  • Pendred syndrome3 tests
  • Periventricular nodular heterotopia 12 tests
  • Permanent neonatal diabetes mellitus2 tests
  • Persistent hyperinsulinemic hypoglycemia of infancy2 tests
  • Persistent Mullerian duct syndrome3 tests
  • Peters plus syndrome2 tests
  • Peutz-Jeghers syndrome2 tests
  • Pfeiffer syndrome1 test
  • Phenylketonuria1 test
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic1 test
  • Phosphoribosylpyrophosphate synthetase superactivity1 test
  • Pierson syndrome1 test
  • Pigmentary pallidal degeneration2 tests
  • Pigmented nodular adrenocortical disease, primary, 21 test
  • Pigmented nodular adrenocortical disease, primary, 31 test
  • Pitt-Hopkins syndrome1 test
  • Pituitary hormone deficiency, combined 14 tests
  • Pituitary hormone deficiency, combined 24 tests
  • Pituitary hormone deficiency, combined 34 tests
  • Pituitary hormone deficiency, combined 44 tests
  • Plasminogen activator inhibitor type 1 deficiency1 test
  • Polycystic kidney disease, adult type3 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy2 tests
  • Polycystic liver disease 12 tests
  • Polyglandular autoimmune syndrome, type 12 tests
  • Polymicrogyria, bilateral frontoparietal1 test
  • Pontocerebellar hypoplasia type 2A2 tests
  • Pontocerebellar hypoplasia type 42 tests
  • Popliteal pterygium syndrome lethal type1 test
  • Porphyria cutanea tarda, type I1 test
  • Postanesthetic apnea1 test
  • Posterior polymorphous corneal dystrophy 11 test
  • Pregnancy loss, recurrent, susceptibility to, 21 test
  • Primary autosomal recessive microcephaly 11 test
  • Primary autosomal recessive microcephaly 51 test
  • Primary cortisol resistance1 test
  • Primary erythromelalgia4 tests
  • Primary hyperoxaluria, type I2 tests
  • Primary hyperoxaluria, type III2 tests
  • Primary hypomagnesemia1 test
  • Primary open angle glaucoma2 tests
  • Primary open angle glaucoma juvenile onset 11 test
  • Primary pulmonary hypertension3 tests
  • Progressive familial intrahepatic cholestasis 21 test
  • Progressive familial intrahepatic cholestasis 33 tests
  • Progressive intrahepatic cholestasis2 tests
  • Progressive myositis ossificans2 tests
  • Progressive pseudorheumatoid dysplasia1 test
  • Progressive sclerosing poliodystrophy1 test
  • Proline dehydrogenase deficiency1 test
  • Properdin deficiency, X-linked1 test
  • Propionyl-CoA carboxylase deficiency2 tests
  • Prothrombin deficiency, congenital1 test
  • Pseudo-Hurler polydystrophy3 tests
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2 tests
  • Pseudohypoaldosteronism type 1 autosomal recessive4 tests
  • Pseudohypoaldosteronism type 2B3 tests
  • Pseudohypoaldosteronism type 2D3 tests
  • Pseudohypoparathyroidism1 test
  • Pseudohypoparathyroidism type 1B1 test
  • Pseudohypoparathyroidism type 1C1 test
  • Pseudoneonatal adrenoleukodystrophy1 test
  • Pseudoprimary hyperaldosteronism2 tests
  • Pseudopseudohypoparathyroidism1 test
  • Pseudoxanthoma elasticum, forme fruste6 tests
  • Pulmonary veno-occlusive disease2 tests
  • Purine-nucleoside phosphorylase deficiency2 tests
  • Pyknodysostosis1 test
  • Pyogenic arthritis, pyoderma gangrenosum and acne1 test
  • Pyridoxine-dependent epilepsy2 tests
  • Pyruvate carboxylase deficiency1 test
  • Pyruvate dehydrogenase E1-alpha deficiency1 test
  • Reis-Bucklers' corneal dystrophy2 tests
  • Renal adysplasia1 test
  • Renal cell carcinoma, papillary, 11 test
  • Renal coloboma syndrome1 test
  • Renal magnesium wasting1 test
  • Renal tubular acidosis with progressive nerve deafness1 test
  • Renal tubular acidosis, distal, autosomal dominant1 test
  • Renal tubular acidosis, distal, autosomal recessive1 test
  • Renal-hepatic-pancreatic dysplasia1 test
  • Renal-hepatic-pancreatic dysplasia 21 test
  • Reticular dysgenesis1 test
  • Retinitis pigmentosa 153 tests
  • Retinitis pigmentosa 23 tests
  • Retinitis pigmentosa 201 test
  • Retinitis pigmentosa 371 test
  • Retinitis pigmentosa 41 test
  • Retinoblastoma2 tests
  • Rett syndrome6 tests
  • Rett syndrome, congenital variant1 test
  • Rhizomelic chondrodysplasia punctata type 12 tests
  • Roberts-SC phocomelia syndrome1 test
  • Robinow syndrome, autosomal recessive3 tests
  • Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked1 test
  • Rothmund-Thomson syndrome1 test
  • Rotor syndrome2 tests
  • Rubinstein-Taybi syndrome3 tests
  • Rubinstein-Taybi syndrome 21 test
  • Sacral defect with anterior meningocele1 test
  • Saethre-Chotzen syndrome3 tests
  • Sandhoff disease1 test
  • Scaphocephaly, maxillary retrusion, and mental retardation1 test
  • Schinzel-Giedion syndrome1 test
  • Schizophrenia1 test
  • Schizophrenia 151 test
  • Schwannomatosis 16 tests
  • Schwannomatosis 21 test
  • Schwartz Jampel syndrome type 11 test
  • Sclerosteosis 11 test
  • Seckel syndrome 11 test
  • Segawa syndrome, autosomal recessive1 test
  • Seizures, benign familial infantile, 26 tests
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
  • Sepiapterin reductase deficiency1 test
  • Septo-optic dysplasia sequence1 test
  • SeSAME syndrome1 test
  • Severe autosomal recessive muscular dystrophy of childhood - North African type1 test
  • Severe combined immunodeficiency due to ADA deficiency1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive1 test
  • Severe congenital neutropenia 3, autosomal recessive1 test
  • Severe congenital neutropenia autosomal dominant1 test
  • Severe myoclonic epilepsy in infancy3 tests
  • Severe neonatal-onset encephalopathy with microcephaly1 test
  • Severe X-linked myotubular myopathy1 test
  • Short QT syndrome 19 tests
  • Short QT syndrome 21 test
  • Short QT syndrome 39 tests
  • Short stature, idiopathic, X-linked2 tests
  • Short-rib thoracic dysplasia 3 with or without polydactyly4 tests
  • Shprintzen syndrome1 test
  • Shprintzen-Goldberg syndrome1 test
  • Shwachman syndrome2 tests
  • Sialidosis, type II1 test
  • Simpson-Golabi-Behmel syndrome2 tests
  • Sitosterolemia2 tests
  • Sjögren-Larsson syndrome2 tests
  • Smith-Lemli-Opitz syndrome1 test
  • Smith-Magenis syndrome1 test
  • Snyder Robinson syndrome1 test
  • Sorsby fundus dystrophy2 tests
  • Sotos syndrome 14 tests
  • Sotos syndrome 21 test
  • Spastic ataxia Charlevoix-Saguenay type2 tests
  • Spastic paraplegia 101 test
  • Spastic paraplegia 11, autosomal recessive1 test
  • Spastic paraplegia 121 test
  • Spastic paraplegia 131 test
  • Spastic paraplegia 151 test
  • Spastic paraplegia 22 tests
  • Spastic paraplegia 31 test
  • Spastic paraplegia 30, autosomal recessive1 test
  • Spastic paraplegia 351 test
  • Spastic paraplegia 391 test
  • Spastic paraplegia 4, autosomal dominant2 tests
  • Spastic paraplegia 48, autosomal recessive1 test
  • Spastic paraplegia 51, autosomal recessive1 test
  • Spastic paraplegia 5A1 test
  • Spastic paraplegia 61 test
  • Spastic paraplegia 71 test
  • Spermatogenic failure 93 tests
  • Spherocytosis type 15 tests
  • Spherocytosis type 29 tests
  • Spherocytosis type 35 tests
  • Spherocytosis type 45 tests
  • Spherocytosis type 55 tests
  • Spinal muscular atrophy type 41 test
  • Spinal muscular atrophy, distal, autosomal recessive, 12 tests
  • Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant1 test
  • Spinal muscular atrophy, type II1 test
  • Spinocerebellar ataxia 12 tests
  • Spinocerebellar ataxia 101 test
  • Spinocerebellar ataxia 112 tests
  • Spinocerebellar ataxia 121 test
  • Spinocerebellar ataxia 142 tests
  • Spinocerebellar ataxia 171 test
  • Spinocerebellar ataxia 181 test
  • Spinocerebellar ataxia 191 test
  • Spinocerebellar ataxia 22 tests
  • Spinocerebellar ataxia 361 test
  • Spinocerebellar ataxia 51 test
  • Spinocerebellar ataxia 62 tests
  • Spinocerebellar ataxia 72 tests
  • Spinocerebellar ataxia 81 test
  • Spinocerebellar ataxia autosomal recessive 12 tests
  • Spinocerebellar ataxia, autosomal recessive 82 tests
  • Spondylocostal dysostosis 1, autosomal recessive5 tests
  • Spondylocostal dysostosis 21 test
  • Spondylocostal dysostosis 35 tests
  • Spondyloenchondrodysplasia with immune dysregulation1 test
  • Spondyloepiphyseal dysplasia2 tests
  • Spondyloepiphyseal dysplasia tarda3 tests
  • Spondyloepiphyseal dysplasia with congenital joint dislocations1 test
  • Spongy degeneration of central nervous system2 tests
  • Stargardt disease 16 tests
  • Stargardt Disease 31 test
  • Steatocystoma multiplex1 test
  • Steinert myotonic dystrophy syndrome1 test
  • Stickler syndrome type 16 tests
  • Stickler syndrome, type 27 tests
  • Stickler syndrome, type 36 tests
  • Succinate-semialdehyde dehydrogenase deficiency1 test
  • Succinyl-CoA acetoacetate transferase deficiency1 test
  • Supravalvar aortic stenosis2 tests
  • Surfactant metabolism dysfunction, pulmonary, 13 tests
  • Surfactant metabolism dysfunction, pulmonary, 23 tests
  • Surfactant metabolism dysfunction, pulmonary, 33 tests
  • Surfactant metabolism dysfunction, pulmonary, 41 test
  • Susceptibility to malaria1 test
  • Systemic lupus erythematosus1 test
  • Talipes equinovarus1 test
  • Tangier disease1 test
  • Tay-Sachs disease3 tests
  • Tay-Sachs disease, variant AB3 tests
  • Thanatophoric dysplasia type 12 tests
  • Thanatophoric dysplasia, type 22 tests
  • Thiopurine methyltransferase deficiency1 test
  • Three M syndrome 21 test
  • Thrombocythemia 31 test
  • Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis1 test
  • Thrombophilia due to activated protein C resistance4 tests
  • Thrombophilia due to thrombomodulin defect1 test
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant1 test
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive1 test
  • Thyroid hormone resistance, generalized, autosomal dominant2 tests
  • Thyrotoxic periodic paralysis 21 test
  • Tietz syndrome1 test
  • Timothy syndrome2 tests
  • TNF receptor-associated periodic fever syndrome (TRAPS)2 tests
  • Tourette Syndrome1 test
  • Townes-Brocks syndrome 12 tests
  • Transcobalamin II deficiency8 tests
  • Transient neonatal diabetes mellitus 13 tests
  • Transient neonatal diabetes mellitus 23 tests
  • Transient neonatal diabetes mellitus 33 tests
  • Treacher Collins syndrome 15 tests
  • Treacher Collins syndrome 25 tests
  • Trichohepatoenteric syndrome 11 test
  • Trichohepatoenteric syndrome 21 test
  • Trichorhinophalangeal dysplasia type I2 tests
  • Trichorhinophalangeal syndrome type 32 tests
  • Trichothiodystrophy 1, photosensitive1 test
  • Trimethylaminuria1 test
  • Tuberous sclerosis 13 tests
  • Tuberous sclerosis 23 tests
  • Tumor susceptibility linked to germline BAP1 mutations1 test
  • Tumoral calcinosis, familial, hyperphosphatemic3 tests
  • Turcot syndrome8 tests
  • Tyrosinase-negative oculocutaneous albinism1 test
  • Tyrosinase-positive oculocutaneous albinism2 tests
  • Tyrosinemia type I2 tests
  • UDPglucose-4-epimerase deficiency1 test
  • Ullrich congenital muscular dystrophy 13 tests
  • Ulnar-mammary syndrome1 test
  • Uniparental disomy, paternal, chromosome 141 test
  • Unverricht-Lundborg syndrome1 test
  • Upshaw-Schulman syndrome1 test
  • Urofacial syndrome 21 test
  • Usher syndrome, type 11 test
  • Usher syndrome, type 1D1 test
  • Usher syndrome, type 2A4 tests
  • Usher syndrome, type 3A1 test
  • Usher syndrome, type 3B1 test
  • Van der Woude syndrome2 tests
  • Variegate porphyria1 test
  • Vasculopathy, retinal, with cerebral leukodystrophy1 test
  • Venous thrombosis4 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 23 tests
  • Very long chain acyl-CoA dehydrogenase deficiency2 tests
  • Visceral heterotaxy 5, autosomal5 tests
  • Vitamin D-dependent rickets, type 11 test
  • Vitelliform macular dystrophy type 21 test
  • Vitiligo-associated multiple autoimmune disease susceptibility 11 test
  • Vohwinkel syndrome, variant form1 test
  • Von Hippel-Lindau syndrome2 tests
  • von Willebrand disease type 12 tests
  • von Willebrand disease type 23 tests
  • Von Willebrand disease, recessive form1 test
  • Waardenburg syndrome type 12 tests
  • Waardenburg syndrome type 2A1 test
  • Waardenburg syndrome type 4C1 test
  • Weaver syndrome1 test
  • Weill-Marchesani syndrome 11 test
  • Weissenbacher-Zweymuller syndrome1 test
  • Werdnig-Hoffmann disease1 test
  • Werner syndrome1 test
  • Wieacker Wolff syndrome1 test
  • Wilms tumor 14 tests
  • Wilson disease3 tests
  • Wiskott-Aldrich syndrome1 test
  • Wolcott-Rallison dysplasia1 test
  • Wolff-Parkinson-White pattern1 test
  • Wolfram syndrome 22 tests
  • X-linked agammaglobulinemia2 tests
  • X-linked hereditary motor and sensory neuropathy3 tests
  • X-linked hydrocephalus syndrome1 test
  • X-linked ichthyosis with steryl-sulfatase deficiency2 tests
  • X-linked mental retardation with marfanoid habitus syndrome3 tests
  • X-linked severe combined immunodeficiency1 test
  • Xeroderma pigmentosum, type 12 tests
  • Young Simpson syndrome2 tests
  • Zellweger syndrome17 tests
  • Zinc deficiency, transient neonatal1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis
  • Carrier testing
  • Marker Chromosome Identification
  • Maternal cell contamination study (MCC)
  • Mutation Confirmation
  • Uniparental Disomy (UPD) Testing
  • Whole Exome Sequencing
  • X-Chromosome Inactivation Studies

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.

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