Athena Diagnostics

Personnel

Director: Raveen Basran, PhD, ABMGG Board Certified, Diplomate of the American Board of Medica, Lab Director
Director: Vivekananda Datta, PhD, MD, Medical Director
Director: Izabela Karbassi, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Scientific Director
Director: Zhenyuan Wang, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
Whitney Dodge, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 800-394-4493
Email: whitney.a.dodge@questdiagnostics.com
Carol Hoffman, PhD, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 800-394-4493
Email: carol.hoffman@athenadiagnostics.com
Andrea Lewis, MS, Certified Genetic counselor, CGC, Genetic Counselor
Khalida Liaquat, MS, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 800-394-4493
Email: khalida.x.liaquat@athenadiagnostics.com
Meagan Nashawaty, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 800-394-4493
Email: Meagan.R.Nashawaty@questdiagnostics.com
Emily Partack, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Zoe Powis, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor

Conditions and tests

903 conditions/phenotypes with 383 tests
Enter text to narrow down the list

3 beta-Hydroxysteroid dehydrogenase deficiency1 test
Aarskog syndrome2 tests
ABCD syndrome1 test
Abortive cerebellar ataxia1 test
Absence seizure2 tests
Achondroplasia3 tests
Acrocephalosyndactyly type I1 test
Actin accumulation myopathy1 test
Action myoclonus-renal failure syndrome2 tests
Adenylosuccinate lyase deficiency5 tests
Adrenoleukodystrophy3 tests
Adult-onset proximal spinal muscular atrophy, autosomal dominant1 test
Aicardi-Goutieres syndrome 12 tests
Aicardi-Goutieres syndrome 22 tests
Aicardi-Goutieres syndrome 32 tests
Aicardi-Goutieres syndrome 42 tests
Aicardi-Goutieres syndrome 52 tests
Alexander disease4 tests
ALG9 congenital disorder of glycosylation4 tests
Alstrom syndrome1 test
Alternating hemiplegia of childhood 22 tests
Alzheimer disease2 tests
Alzheimer disease 21 test
Alzheimer disease 32 tests
Alzheimer disease 42 tests
Amelocerebrohypohidrotic syndrome2 tests
Aminoglycoside-induced deafness1 test
Amyloidosis, hereditary systemic 12 tests
Amyotrophic lateral sclerosis type 13 tests
Amyotrophic lateral sclerosis type 102 tests
Amyotrophic lateral sclerosis type 122 tests
Amyotrophic lateral sclerosis type 152 tests
Amyotrophic lateral sclerosis type 162 tests
Amyotrophic lateral sclerosis type 182 tests
Amyotrophic lateral sclerosis type 2, juvenile6 tests
Amyotrophic lateral sclerosis type 211 test
Amyotrophic lateral sclerosis type 45 tests
Amyotrophic lateral sclerosis type 62 tests
Amyotrophic lateral sclerosis type 82 tests
Amyotrophic lateral sclerosis type 92 tests
Amyotrophic neuralgia1 test
Andersen Tawil syndrome1 test
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
Angelman syndrome2 tests
Aniridia 12 tests
Apparent mineralocorticoid excess3 tests
Arginine:glycine amidinotransferase deficiency3 tests
Arts syndrome1 test
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia4 tests
Ataxia-hypogonadism-choroidal dystrophy syndrome3 tests
Ataxia-telangiectasia syndrome4 tests
Ataxia-telangiectasia-like disorder 13 tests
Ateleiotic dwarfism2 tests
Atrophia bulborum hereditaria1 test
Autism, susceptibility to, 171 test
Autosomal dominant Alport syndrome3 tests
Autosomal dominant auditory neuropathy 11 test
Autosomal dominant cerebellar ataxia, deafness and narcolepsy1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1 test
Autosomal dominant deafness - onychodystrophy syndrome1 test
Autosomal dominant hypocalcemia 11 test
Autosomal dominant hypophosphatemic rickets2 tests
Autosomal dominant isolated somatotropin deficiency2 tests
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1 test
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)2 tests
Autosomal dominant nocturnal frontal lobe epilepsy 12 tests
Autosomal dominant nocturnal frontal lobe epilepsy 32 tests
Autosomal dominant nocturnal frontal lobe epilepsy 42 tests
Autosomal dominant nonsyndromic hearing loss 11 test
Autosomal dominant nonsyndromic hearing loss 101 test
Autosomal dominant nonsyndromic hearing loss 111 test
Autosomal dominant nonsyndromic hearing loss 121 test
Autosomal dominant nonsyndromic hearing loss 131 test
Autosomal dominant nonsyndromic hearing loss 151 test
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant nonsyndromic hearing loss 201 test
Autosomal dominant nonsyndromic hearing loss 221 test
Autosomal dominant nonsyndromic hearing loss 231 test
Autosomal dominant nonsyndromic hearing loss 251 test
Autosomal dominant nonsyndromic hearing loss 281 test
Autosomal dominant nonsyndromic hearing loss 2A1 test
Autosomal dominant nonsyndromic hearing loss 2B1 test
Autosomal dominant nonsyndromic hearing loss 361 test
Autosomal dominant nonsyndromic hearing loss 3A3 tests
Autosomal dominant nonsyndromic hearing loss 3B3 tests
Autosomal dominant nonsyndromic hearing loss 401 test
Autosomal dominant nonsyndromic hearing loss 411 test
Autosomal dominant nonsyndromic hearing loss 441 test
Autosomal dominant nonsyndromic hearing loss 4A1 test
Autosomal dominant nonsyndromic hearing loss 4B1 test
Autosomal dominant nonsyndromic hearing loss 51 test
Autosomal dominant nonsyndromic hearing loss 501 test
Autosomal dominant nonsyndromic hearing loss 561 test
Autosomal dominant nonsyndromic hearing loss 61 test
Autosomal dominant nonsyndromic hearing loss 641 test
Autosomal dominant nonsyndromic hearing loss 651 test
Autosomal dominant nonsyndromic hearing loss 661 test
Autosomal dominant nonsyndromic hearing loss 671 test
Autosomal dominant nonsyndromic hearing loss 681 test
Autosomal dominant nonsyndromic hearing loss 701 test
Autosomal dominant nonsyndromic hearing loss 91 test
Autosomal dominant optic atrophy classic form3 tests
Autosomal dominant Parkinson disease 13 tests
Autosomal dominant Parkinson disease 43 tests
Autosomal dominant Parkinson disease 83 tests
Autosomal recessive Alport syndrome4 tests
Autosomal recessive ataxia due to ubiquinone deficiency3 tests
Autosomal recessive ataxia, Beauce type3 tests
Autosomal recessive distal spinal muscular atrophy 11 test
Autosomal recessive distal spinal muscular atrophy 22 tests
Autosomal recessive DOPA responsive dystonia2 tests
Autosomal recessive early-onset Parkinson disease 63 tests
Autosomal recessive early-onset Parkinson disease 73 tests
Autosomal recessive juvenile Parkinson disease 23 tests
Autosomal recessive limb-girdle muscular dystrophy type 2A4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2B3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2C3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2D3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2F2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2G3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2I4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2J5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2K3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2L3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2M3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2N3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2O3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2P2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Q2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2U2 tests
Autosomal recessive limb-girdle muscular dystrophy type R182 tests
Autosomal recessive nonsyndromic hearing loss 1011 test
Autosomal recessive nonsyndromic hearing loss 1021 test
Autosomal recessive nonsyndromic hearing loss 1031 test
Autosomal recessive nonsyndromic hearing loss 1041 test
Autosomal recessive nonsyndromic hearing loss 121 test
Autosomal recessive nonsyndromic hearing loss 151 test
Autosomal recessive nonsyndromic hearing loss 161 test
Autosomal recessive nonsyndromic hearing loss 18A1 test
Autosomal recessive nonsyndromic hearing loss 18B1 test
Autosomal recessive nonsyndromic hearing loss 1A4 tests
Autosomal recessive nonsyndromic hearing loss 1B3 tests
Autosomal recessive nonsyndromic hearing loss 21 test
Autosomal recessive nonsyndromic hearing loss 211 test
Autosomal recessive nonsyndromic hearing loss 221 test
Autosomal recessive nonsyndromic hearing loss 231 test
Autosomal recessive nonsyndromic hearing loss 241 test
Autosomal recessive nonsyndromic hearing loss 251 test
Autosomal recessive nonsyndromic hearing loss 281 test
Autosomal recessive nonsyndromic hearing loss 291 test
Autosomal recessive nonsyndromic hearing loss 31 test
Autosomal recessive nonsyndromic hearing loss 301 test
Autosomal recessive nonsyndromic hearing loss 311 test
Autosomal recessive nonsyndromic hearing loss 321 test
Autosomal recessive nonsyndromic hearing loss 351 test
Autosomal recessive nonsyndromic hearing loss 361 test
Autosomal recessive nonsyndromic hearing loss 371 test
Autosomal recessive nonsyndromic hearing loss 391 test
Autosomal recessive nonsyndromic hearing loss 41 test
Autosomal recessive nonsyndromic hearing loss 421 test
Autosomal recessive nonsyndromic hearing loss 441 test
Autosomal recessive nonsyndromic hearing loss 481 test
Autosomal recessive nonsyndromic hearing loss 491 test
Autosomal recessive nonsyndromic hearing loss 531 test
Autosomal recessive nonsyndromic hearing loss 591 test
Autosomal recessive nonsyndromic hearing loss 61 test
Autosomal recessive nonsyndromic hearing loss 611 test
Autosomal recessive nonsyndromic hearing loss 631 test
Autosomal recessive nonsyndromic hearing loss 661 test
Autosomal recessive nonsyndromic hearing loss 671 test
Autosomal recessive nonsyndromic hearing loss 681 test
Autosomal recessive nonsyndromic hearing loss 71 test
Autosomal recessive nonsyndromic hearing loss 701 test
Autosomal recessive nonsyndromic hearing loss 741 test
Autosomal recessive nonsyndromic hearing loss 761 test
Autosomal recessive nonsyndromic hearing loss 771 test
Autosomal recessive nonsyndromic hearing loss 791 test
Autosomal recessive nonsyndromic hearing loss 81 test
Autosomal recessive nonsyndromic hearing loss 84A1 test
Autosomal recessive nonsyndromic hearing loss 84B1 test
Autosomal recessive nonsyndromic hearing loss 861 test
Autosomal recessive nonsyndromic hearing loss 881 test
Autosomal recessive nonsyndromic hearing loss 891 test
Autosomal recessive nonsyndromic hearing loss 91 test
Autosomal recessive nonsyndromic hearing loss 911 test
Autosomal recessive nonsyndromic hearing loss 931 test
Autosomal recessive nonsyndromic hearing loss 971 test
Autosomal recessive nonsyndromic hearing loss 981 test
Autosomal recessive spinocerebellar ataxia 103 tests
Autosomal recessive spinocerebellar ataxia 113 tests
Autosomal recessive spinocerebellar ataxia 133 tests
Autosomal recessive spinocerebellar ataxia 142 tests
Azorean disease4 tests
Baraitser-Winter syndrome 11 test
Baraitser-winter syndrome 21 test
Bardet-Biedl syndrome4 tests
Bartter disease type 13 tests
Bartter disease type 22 tests
Bartter disease type 32 tests
Bartter disease type 4A3 tests
Bartter disease type 4B2 tests
Becker muscular dystrophy4 tests
Beta-D-mannosidosis1 test
Bethlem myopathy 1A1 test
Bifunctional peroxisomal enzyme deficiency1 test
Bilateral frontoparietal polymicrogyria2 tests
Biotin-responsive basal ganglia disease3 tests
Borjeson-Forssman-Lehmann syndrome2 tests
Bosch-Boonstra-Schaaf optic atrophy syndrome2 tests
Brain small vessel disease 1 with or without ocular anomalies3 tests
Branched-chain keto acid dehydrogenase kinase deficiency3 tests
Branchiooculofacial syndrome1 test
Branchiootic syndrome 11 test
Branchiootic syndrome 31 test
Branchiootorenal syndrome 11 test
Branchiootorenal syndrome 21 test
Brody myopathy1 test
Brugada syndrome 12 tests
Brugada syndrome 92 tests
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
CARASIL syndrome1 test
Carnitine palmitoyl transferase II deficiency, severe infantile form2 tests
Cataract 16 multiple types1 test
Central core myopathy1 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 14 tests
Cerebral cavernous malformation2 tests
Cerebral cavernous malformation 22 tests
Cerebral cavernous malformation 32 tests
Cerebral folate transport deficiency4 tests
Cerebrooculofacioskeletal syndrome 21 test
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)2 tests
Ceroid lipofuscinosis, neuronal, 6A2 tests
Charcot-Marie-Tooth disease axonal type 2C8 tests
Charcot-Marie-Tooth disease axonal type 2F8 tests
Charcot-Marie-Tooth disease axonal type 2K9 tests
Charcot-Marie-Tooth disease axonal type 2L8 tests
Charcot-Marie-Tooth disease dominant intermediate B13 tests
Charcot-Marie-Tooth disease dominant intermediate C10 tests
Charcot-Marie-Tooth disease dominant intermediate D9 tests
Charcot-Marie-Tooth disease recessive intermediate A5 tests
Charcot-Marie-Tooth disease type 1B9 tests
Charcot-Marie-Tooth disease type 1C7 tests
Charcot-Marie-Tooth disease type 1D8 tests
Charcot-Marie-Tooth disease type 1E12 tests
Charcot-Marie-Tooth disease type 1F7 tests
Charcot-Marie-Tooth disease type 2A26 tests
Charcot-Marie-Tooth disease type 2B7 tests
Charcot-Marie-Tooth disease type 2B112 tests
Charcot-Marie-Tooth disease type 2D8 tests
Charcot-Marie-Tooth disease type 2E7 tests
Charcot-Marie-Tooth disease type 2I9 tests
Charcot-Marie-Tooth disease type 2J9 tests
Charcot-Marie-Tooth disease type 2Y1 test
Charcot-Marie-Tooth disease type 4A9 tests
Charcot-Marie-Tooth disease type 4B17 tests
Charcot-Marie-Tooth disease type 4B27 tests
Charcot-Marie-Tooth disease type 4C7 tests
Charcot-Marie-Tooth disease type 4D7 tests
Charcot-Marie-Tooth disease type 4E4 tests
Charcot-Marie-Tooth disease type 4F7 tests
Charcot-Marie-Tooth disease type 4H7 tests
Charcot-Marie-Tooth disease type 4J9 tests
Charcot-Marie-Tooth disease X-linked dominant 18 tests
Charcot-Marie-Tooth disease X-linked recessive 41 test
Charcot-Marie-Tooth disease X-linked recessive 51 test
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive5 tests
Charcot-Marie-Tooth disease, type IA11 tests
CHARGE syndrome1 test
Charlevoix-Saguenay spastic ataxia7 tests
Cholestanol storage disease2 tests
Chorea-acanthocytosis2 tests
Christianson syndrome3 tests
Chronic infantile neurological, cutaneous and articular syndrome1 test
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency4 tests
Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss2 tests
Cohen syndrome3 tests
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness1 test
Complex cortical dysplasia with other brain malformations 72 tests
Compton-North congenital myopathy1 test
Congenital adrenal hypoplasia, X-linked2 tests
Congenital bile acid synthesis defect 33 tests
Congenital generalized lipodystrophy type 23 tests
Congenital generalized lipodystrophy type 41 test
Congenital lipoid adrenal hyperplasia due to STAR deficency1 test
Congenital multicore myopathy with external ophthalmoplegia1 test
Congenital muscular dystrophy due to integrin alpha-7 deficiency1 test
Congenital muscular dystrophy with intellectual disability and severe epilepsy1 test
Congenital muscular hypertrophy-cerebral syndrome2 tests
Congenital myasthenic syndrome 101 test
Congenital myasthenic syndrome 111 test
Congenital myasthenic syndrome 121 test
Congenital myasthenic syndrome 131 test
Congenital myasthenic syndrome 182 tests
Congenital myasthenic syndrome 2A1 test
Congenital myasthenic syndrome 3B1 test
Congenital myasthenic syndrome 4A1 test
Congenital myasthenic syndrome 4B1 test
Congenital myasthenic syndrome 4C1 test
Congenital myasthenic syndrome 51 test
Congenital myasthenic syndrome 81 test
Congenital myasthenic syndrome 91 test
Congenital myopathy 231 test
Congenital myopathy 4B, autosomal recessive1 test
Congenital myopathy with fiber type disproportion3 tests
Congenital myopathy with internal nuclei and atypical cores2 tests
Congenital myotonia, autosomal dominant form3 tests
Congenital myotonia, autosomal recessive form3 tests
Corneal dystrophy-perceptive deafness syndrome1 test
Cornelia de Lange syndrome 12 tests
Cornelia de Lange syndrome 32 tests
Cortical dysplasia-focal epilepsy syndrome2 tests
Craniofacial-deafness-hand syndrome1 test
Craniometaphyseal dysplasia, autosomal dominant1 test
Creatine transporter deficiency3 tests
Crouzon syndrome1 test
Cutis laxa with osteodystrophy2 tests
Deafness dystonia syndrome1 test
Deafness with labyrinthine aplasia, microtia, and microdontia1 test
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
Deafness, autosomal dominant, with peripheral neuropathy1 test
Deafness, X-linked 51 test
Deficiency of guanidinoacetate methyltransferase3 tests
Deficiency of steroid 11-beta-monooxygenase4 tests
Deficiency of steroid 17-alpha-monooxygenase1 test
Dentatorubral-pallidoluysian atrophy4 tests
Desmin-related myofibrillar myopathy4 tests
Developmental and epileptic encephalopathy 943 tests
Developmental and epileptic encephalopathy, 16 tests
Developmental and epileptic encephalopathy, 114 tests
Developmental and epileptic encephalopathy, 122 tests
Developmental and epileptic encephalopathy, 132 tests
Developmental and epileptic encephalopathy, 143 tests
Developmental and epileptic encephalopathy, 152 tests
Developmental and epileptic encephalopathy, 172 tests
Developmental and epileptic encephalopathy, 182 tests
Developmental and epileptic encephalopathy, 26 tests
Developmental and epileptic encephalopathy, 232 tests
Developmental and epileptic encephalopathy, 243 tests
Developmental and epileptic encephalopathy, 252 tests
Developmental and epileptic encephalopathy, 262 tests
Developmental and epileptic encephalopathy, 274 tests
Developmental and epileptic encephalopathy, 282 tests
Developmental and epileptic encephalopathy, 302 tests
Developmental and epileptic encephalopathy, 31A2 tests
Developmental and epileptic encephalopathy, 322 tests
Developmental and epileptic encephalopathy, 333 tests
Developmental and epileptic encephalopathy, 364 tests
Developmental and epileptic encephalopathy, 43 tests
Developmental and epileptic encephalopathy, 53 tests
Developmental and epileptic encephalopathy, 532 tests
Developmental and epileptic encephalopathy, 543 tests
Developmental and epileptic encephalopathy, 72 tests
Developmental and epileptic encephalopathy, 83 tests
Developmental and epileptic encephalopathy, 94 tests
Developmental malformations-deafness-dystonia syndrome1 test
Diabetes insipidus, nephrogenic, autosomal2 tests
Diabetes insipidus, nephrogenic, X-linked2 tests
Diabetes mellitus, transient neonatal, 22 tests
Diabetes mellitus, transient neonatal, 32 tests
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome3 tests
DiGeorge syndrome3 tests
Dihydropyrimidine dehydrogenase deficiency3 tests
Dilated cardiomyopathy 1C1 test
Dilated cardiomyopathy 1II1 test
Dilated cardiomyopathy 1J1 test
Dilated cardiomyopathy 1S1 test
Distal myopathy with posterior leg and anterior hand involvement2 tests
DOORS syndrome1 test
Duchenne muscular dystrophy4 tests
DYRK1A-related intellectual disability syndrome2 tests
Dystonia 53 tests
Dystonia 92 tests
Early myoclonic encephalopathy3 tests
Early-onset generalized limb-onset dystonia2 tests
Early-onset myopathy with fatal cardiomyopathy4 tests
EAST syndrome3 tests
Eichsfeld type congenital muscular dystrophy3 tests
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 4, autosomal dominant4 tests
Emery-Dreifuss muscular dystrophy 5, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 7, autosomal dominant2 tests
Encephalopathy due to GLUT1 deficiency3 tests
Epidermolysis bullosa simplex 7, with nephropathy and deafness1 test
Epilepsy3 tests
Epilepsy, childhood absence, susceptibility to, 53 tests
Epilepsy, childhood absence, susceptibility to, 62 tests
Epilepsy, familial focal, with variable foci 12 tests
Epilepsy, familial temporal lobe, 13 tests
Epilepsy, idiopathic generalized, susceptibility to, 102 tests
Epilepsy, idiopathic generalized, susceptibility to, 132 tests
Epilepsy, idiopathic generalized, susceptibility to, 73 tests
Epilepsy, idiopathic generalized, susceptibility to, 82 tests
Epilepsy, idiopathic generalized, susceptibility to, 95 tests
Epilepsy, progressive myoclonic, 1B2 tests
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders2 tests
Epileptic encephalopathy5 tests
Episodic ataxia type 16 tests
Episodic ataxia type 54 tests
Episodic ataxia type 64 tests
Facial paresis, hereditary congenital, 31 test
Facioscapulohumeral muscular dystrophy1 test
Facioscapulohumeral muscular dystrophy 21 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial encephalopathy with neuroserpin inclusion bodies2 tests
Familial hypocalciuric hypercalcemia 11 test
Familial hypokalemia-hypomagnesemia2 tests
Familial infantile myasthenia1 test
Familial infantile myoclonic epilepsy2 tests
Familial isolated deficiency of vitamin E4 tests
Familial juvenile hyperuricemic nephropathy type 11 test
Familial medullary thyroid carcinoma2 tests
Familial temporal lobe epilepsy 52 tests
Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
Fatal infantile hypertonic myofibrillar myopathy2 tests
Febrile seizures, familial, 112 tests
Febrile seizures, familial, 42 tests
Febrile seizures, familial, 83 tests
FG syndrome 41 test
Finnish congenital nephrotic syndrome2 tests
Focal epilepsy2 tests
Focal segmental glomerulosclerosis 12 tests
Focal segmental glomerulosclerosis 22 tests
Focal segmental glomerulosclerosis 52 tests
Friedreich ataxia 15 tests
Frontotemporal dementia2 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 14 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 32 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 62 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 72 tests
Gamma-aminobutyric acid transaminase deficiency3 tests
Generalized epilepsy with febrile seizures plus, type 13 tests
Generalized epilepsy with febrile seizures plus, type 25 tests
Generalized epilepsy with febrile seizures plus, type 72 tests
Generalized epilepsy with febrile seizures plus, type 92 tests
Gillespie syndrome3 tests
Glaucoma, normal tension, susceptibility to1 test
Glucocorticoid-remediable aldosteronism1 test
GM3 synthase deficiency3 tests
GNE myopathy1 test
Goldberg-Shprintzen syndrome2 tests
Gonadotropin-independent familial sexual precocity1 test
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions2 tests
Hearing impairment1 test
Hearing loss, autosomal dominant 34, with or without inflammation1 test
Hearing loss, autosomal dominant 731 test
Hearing loss, autosomal recessive1 test
Hearing loss, autosomal recessive 1061 test
Hearing loss, autosomal recessive 1081 test
Hearing loss, X-linked 11 test
Hearing loss, X-linked 41 test
Hearing loss, X-linked 61 test
Heimler syndrome 11 test
Heimler syndrome 21 test
Hereditary disease1 test
Hereditary hearing loss and deafness1 test
Hereditary insensitivity to pain with anhidrosis2 tests
Hereditary liability to pressure palsies1 test
Hereditary sensory and autonomic neuropathy type 12 tests
Hereditary sensory neuropathy-deafness-dementia syndrome1 test
Hereditary spastic paraplegia 104 tests
Hereditary spastic paraplegia 115 tests
Hereditary spastic paraplegia 124 tests
Hereditary spastic paraplegia 134 tests
Hereditary spastic paraplegia 155 tests
Hereditary spastic paraplegia 174 tests
Hereditary spastic paraplegia 23 tests
Hereditary spastic paraplegia 304 tests
Hereditary spastic paraplegia 314 tests
Hereditary spastic paraplegia 354 tests
Hereditary spastic paraplegia 394 tests
Hereditary spastic paraplegia 3A5 tests
Hereditary spastic paraplegia 45 tests
Hereditary spastic paraplegia 424 tests
Hereditary spastic paraplegia 484 tests
Hereditary spastic paraplegia 5A4 tests
Hereditary spastic paraplegia 64 tests
Hereditary spastic paraplegia 75 tests
Hereditary spastic paraplegia 84 tests
Heterotopia, periventricular, X-linked dominant2 tests
High myopia-sensorineural deafness syndrome1 test
Hirschsprung disease, susceptibility to, 21 test
Holoprosencephaly 22 tests
Holoprosencephaly 32 tests
HSD10 mitochondrial disease2 tests
Huntington disease2 tests
Huppke-Brendel syndrome3 tests
Hyperinsulinemic hypoglycemia, familial, 12 tests
Hyperinsulinemic hypoglycemia, familial, 22 tests
Hyperinsulinism due to glucokinase deficiency2 tests
Hyperinsulinism-hyperammonemia syndrome2 tests
Hyperphosphatasia with intellectual disability syndrome 12 tests
Hyperphosphatasia with intellectual disability syndrome 22 tests
Hypertrophic cardiomyopathy 11 test
Hypogonadotropic hypogonadism 1 with or without anosmia3 tests
Hypogonadotropic hypogonadism 11 with or without anosmia3 tests
Hypogonadotropic hypogonadism 12 with or without anosmia3 tests
Hypogonadotropic hypogonadism 2 with or without anosmia5 tests
Hypogonadotropic hypogonadism 3 with or without anosmia4 tests
Hypogonadotropic hypogonadism 4 with or without anosmia4 tests
Hypogonadotropic hypogonadism 5 with or without anosmia3 tests
Hypogonadotropic hypogonadism 6 with or without anosmia3 tests
Hypogonadotropic hypogonadism 7 with or without anosmia4 tests
Hypogonadotropic hypogonadism 8 with or without anosmia4 tests
Hypokalemic periodic paralysis, type 11 test
Hypokalemic periodic paralysis, type 24 tests
Hypomyelinating leukodystrophy 21 test
Hypomyelinating leukodystrophy 43 tests
Hypoparathyroidism, deafness, renal disease syndrome1 test
Ichthyosis, hystrix-like, with hearing loss1 test
Idiopathic generalized epilepsy1 test
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 12 tests
Infantile hypophosphatasia2 tests
Infantile neuroaxonal dystrophy2 tests
Infantile onset spinocerebellar ataxia2 tests
Infantile spasms2 tests
Infantile-onset X-linked spinal muscular atrophy2 tests
Intellectual disability, autosomal dominant 12 tests
Intellectual disability, autosomal dominant 203 tests
Intellectual disability, autosomal dominant 243 tests
Intellectual disability, autosomal dominant 54 tests
Intellectual disability, autosomal dominant 82 tests
Intellectual disability, autosomal dominant 93 tests
Intellectual disability, X-linked 12 tests
Intellectual disability, X-linked 302 tests
Intellectual disability, X-linked 722 tests
Intellectual disability, X-linked 962 tests
Intellectual disability, X-linked, with or without seizures, arx-related2 tests
Intellectual disability-epilepsy-extrapyramidal syndrome3 tests
Intellectual disability-hypotonic facies syndrome, X-linked, 12 tests
Isolated focal cortical dysplasia type II4 tests
Isolated growth hormone deficiency type IB3 tests
Jervell and Lange-Nielsen syndrome 11 test
Jervell and Lange-Nielsen syndrome 21 test
Joubert syndrome 22 tests
Joubert syndrome 32 tests
Joubert syndrome 52 tests
Joubert syndrome 62 tests
Joubert syndrome 92 tests
Joubert syndrome with renal defect2 tests
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
Kabuki syndrome 11 test
KBG syndrome2 tests
Kennedy disease1 test
Keratosis follicularis2 tests
Kniest dysplasia1 test
Knuckle pads, deafness AND leukonychia syndrome1 test
Koolen-de Vries syndrome2 tests
Kufor-Rakeb syndrome2 tests
Kugelberg-Welander disease4 tests
L-2-hydroxyglutaric aciduria2 tests
Lafora disease2 tests
LAMB2-related infantile-onset nephrotic syndrome2 tests
Landau-Kleffner syndrome4 tests
Laurence-Moon syndrome3 tests
Leigh syndrome1 test
Lesch-Nyhan syndrome2 tests
Leucine-induced hypoglycemia2 tests
Levy-Hollister syndrome1 test
Liddle syndrome 15 tests
Lipoic acid synthetase deficiency3 tests
Lissencephaly 42 tests
Lissencephaly due to LIS1 mutation2 tests
Lissencephaly due to TUBA1A mutation2 tests
Lissencephaly type 1 due to doublecortin gene mutation3 tests
Long QT syndrome 22 tests
Luscan-Lumish syndrome2 tests
Macrocephaly-autism syndrome1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Malignant hyperthermia, susceptibility to, 11 test
Malignant hyperthermia, susceptibility to, 51 test
Mandibulofacial dysostosis with alopecia1 test
Marinesco-Sjögren syndrome3 tests
Marshall syndrome1 test
MASA syndrome3 tests
Mast syndrome4 tests
Maturity-onset diabetes of the young type 13 tests
Maturity-onset diabetes of the young type 25 tests
Maturity-onset diabetes of the young type 35 tests
Maturity-onset diabetes of the young type 42 tests
Maturity-onset diabetes of the young type 81 test
Megaconial type congenital muscular dystrophy1 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
MEGF10-related myopathy1 test
Merosin deficient congenital muscular dystrophy3 tests
MERRF syndrome1 test
Metachromatic leukodystrophy1 test
Microcephaly 1, primary, autosomal recessive4 tests
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations4 tests
Microcephaly 5, primary, autosomal recessive5 tests
Microcephaly 6, primary, autosomal recessive2 tests
Microcephaly 7, primary, autosomal recessive2 tests
Microcephaly, seizures, and developmental delay2 tests
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome2 tests
Migraine, familial hemiplegic, 19 tests
Migraine, familial hemiplegic, 24 tests
Migraine, familial hemiplegic, 34 tests
Mitochondrial complex I deficiency2 tests
Mitochondrial complex III deficiency nuclear type 11 test
Mitochondrial DNA depletion syndrome 11 test
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive1 test
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1 test
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)2 tests
Mitochondrial DNA depletion syndrome 4b3 tests
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)2 tests
Mitochondrial DNA depletion syndrome 8a2 tests
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria2 tests
Mitochondrial DNA depletion syndrome, myopathic form2 tests
Mitochondrial non-syndromic sensorineural hearing loss1 test
Miyoshi muscular dystrophy 13 tests
Miyoshi muscular dystrophy 32 tests
Mowat-Wilson syndrome2 tests
Muenke syndrome1 test
Multiple congenital anomalies-hypotonia-seizures syndrome 13 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 23 tests
Multiple endocrine neoplasia type 2A2 tests
Multiple endocrine neoplasia type 2B2 tests
Multiple endocrine neoplasia, type 11 test
Multiple epiphyseal dysplasia1 test
Multiple epiphyseal dysplasia, Beighton type1 test
Muscle eye brain disease4 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 44 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 72 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A131 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A24 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A56 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A63 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A91 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B12 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B22 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B32 tests
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B42 tests
Muscular dystrophy-dystroglycanopathy type B54 tests
Muscular dystrophy-dystroglycanopathy type B61 test
Mutilating keratoderma1 test
Myasthenic syndrome, congenital, 1B, fast-channel1 test
Myasthenic syndrome, slow-channel congenital1 test
MYH7-related skeletal myopathy1 test
Myoclonic dystonia 112 tests
Myoclonic-astatic epilepsy2 tests
Myofibrillar myopathy 22 tests
Myofibrillar myopathy 34 tests
Myofibrillar myopathy 42 tests
Myofibrillar myopathy 52 tests
Myofibrillar myopathy 61 test
Myopathy, centronuclear, 21 test
Myopathy, myofibrillar, 9, with early respiratory failure4 tests
Myopathy, myosin storage, autosomal recessive2 tests
Myopathy, proximal, and ophthalmoplegia1 test
Myopathy, reducing body, X-linked, childhood-onset3 tests
Myopathy, reducing body, X-linked, early-onset, severe3 tests
Myosin storage myopathy2 tests
Myotonic dystrophy type 22 tests
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome1 test
NDE1-related microhydranencephaly2 tests
Nemaline myopathy 22 tests
Nemaline myopathy 51 test
Nemaline myopathy 61 test
Nemaline myopathy 71 test
Nemaline myopathy 81 test
Neonatal-onset encephalopathy with rigidity and seizures3 tests
Nephronophthisis 11 test
Nephrotic syndrome 152 tests
Nephrotic syndrome, type 23 tests
Nephrotic syndrome, type 32 tests
Nephrotic syndrome, type 42 tests
Neurodegeneration with brain iron accumulation 53 tests
Neurofibromatosis, type 13 tests
Neurofibromatosis, type 23 tests
Neuronal ceroid lipofuscinosis 12 tests
Neuronal ceroid lipofuscinosis 102 tests
Neuronal ceroid lipofuscinosis 112 tests
Neuronal ceroid lipofuscinosis 132 tests
Neuronal ceroid lipofuscinosis 22 tests
Neuronal ceroid lipofuscinosis 32 tests
Neuronal ceroid lipofuscinosis 52 tests
Neuronal ceroid lipofuscinosis 72 tests
Neuronal ceroid lipofuscinosis 82 tests
Neuronopathy, distal hereditary motor, type 2C1 test
Neuronopathy, distal hereditary motor, type 5A3 tests
Neuronopathy, distal hereditary motor, type 5B3 tests
Neuronopathy, distal hereditary motor, type 7B1 test
Neuropathy, hereditary sensory and autonomic, type 1C2 tests
Neuropathy, hereditary sensory and autonomic, type 2A2 tests
Neuropathy, hereditary sensory, type 1D1 test
Neuropathy, hereditary sensory, type 2C3 tests
Non-ketotic hyperglycinemia3 tests
Nonsyndromic Deafness1 test
nonsyndromic sensorineural hearing loss1 test
Noonan syndrome 11 test
Noonan syndrome 32 tests
Noonan syndrome 42 tests
Noonan syndrome 52 tests
Norman-Roberts syndrome2 tests
Obesity2 tests
Obesity due to leptin receptor gene deficiency2 tests
Ocular albinism with congenital sensorineural hearing loss1 test
Oculopharyngeal muscular dystrophy1 test
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy3 tests
Orofaciodigital syndrome I2 tests
Osteogenesis imperfecta type I2 tests
Osteogenesis imperfecta type III3 tests
Osteogenesis imperfecta with normal sclerae, dominant form3 tests
Osteogenesis imperfecta, perinatal lethal3 tests
Osteoporosis with pseudoglioma1 test
Otofaciocervical syndrome 11 test
Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
Otospondylomegaepiphyseal dysplasia, autosomal recessive1 test
Paget disease of bone 31 test
Palmoplantar keratoderma-deafness syndrome1 test
Paroxysmal nonkinesigenic dyskinesia 11 test
Partington syndrome2 tests
PCWH syndrome1 test
Pelger-Huët anomaly2 tests
Pelizaeus-Merzbacher disease5 tests
Pendred syndrome1 test
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
Periventricular heterotopia with microcephaly, autosomal recessive2 tests
Permanent neonatal diabetes mellitus7 tests
Peroxisome biogenesis disorder 1A (Zellweger)1 test
Peroxisome biogenesis disorder 1B1 test
Peroxisome biogenesis disorder 4B1 test
Peroxisome biogenesis disorder 9B2 tests
Perrault syndrome 11 test
Perrault syndrome 21 test
Perrault syndrome 31 test
Perrault syndrome 41 test
Perry syndrome1 test
Pfeiffer syndrome1 test
PHARC syndrome1 test
Phelan-McDermid syndrome1 test
Pheochromocytoma3 tests
PHGDH deficiency2 tests
Phosphoribosylpyrophosphate synthetase superactivity1 test
Piebaldism1 test
Pierpont syndrome2 tests
Pigmentary pallidal degeneration2 tests
Pili torti-deafness syndrome1 test
Pitt-Hopkins syndrome2 tests
Pitt-Hopkins-like syndrome 22 tests
Pituitary hormone deficiency, combined, 12 tests
Pituitary hormone deficiency, combined, 22 tests
Polycystic kidney disease 25 tests
Polycystic kidney disease, adult type5 tests
Polyglandular autoimmune syndrome, type 12 tests
Polymicrogyria with optic nerve hypoplasia2 tests
Pontocerebellar hypoplasia type 1A1 test
Pontocerebellar hypoplasia type 2A2 tests
Pontocerebellar hypoplasia type 42 tests
Posterior column ataxia-retinitis pigmentosa syndrome3 tests
Postmenopausal osteoporosis1 test
Potassium-aggravated myotonia5 tests
Primary open angle glaucoma1 test
Progressive demyelinating neuropathy with bilateral striatal necrosis4 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 13 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 21 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 32 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 52 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 13 tests
Progressive myoclonic epilepsy type 33 tests
Progressive myoclonic epilepsy type 62 tests
Progressive myoclonic epilepsy type 72 tests
Progressive myoclonic epilepsy type 92 tests
Progressive sclerosing poliodystrophy4 tests
Pseudohypoaldosteronism, type IB1, autosomal recessive6 tests
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome3 tests
Pyridoxal phosphate-responsive seizures3 tests
Pyridoxine-dependent epilepsy2 tests
Pyruvate dehydrogenase complex deficiency1 test
RAPH BLOOD GROUP SYSTEM1 test
Renal cysts and diabetes syndrome4 tests
Renal tubular acidosis with progressive nerve deafness1 test
Renpenning syndrome3 tests
Rett syndrome2 tests
Rett syndrome, congenital variant4 tests
Rippling muscle disease 25 tests
Ritscher-Schinzel syndrome 13 tests
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked3 tests
Saethre-Chotzen syndrome1 test
Sarcotubular myopathy3 tests
Schinzel-Giedion syndrome2 tests
Schizencephaly2 tests
Schwannomatosis 13 tests
Schwartz-Jampel syndrome1 test
Seizure2 tests
Seizures, benign familial infantile, 24 tests
Seizures, benign familial neonatal, 22 tests
Sensorineural hearing loss disorder1 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis10 tests
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome1 test
Severe myoclonic epilepsy in infancy2 tests
Severe neonatal-onset encephalopathy with microcephaly4 tests
Severe neurodegenerative syndrome with lipodystrophy3 tests
Severe X-linked myotubular myopathy1 test
Short stature due to partial GHR deficiency1 test
SHOX-related short stature2 tests
Simpson-Golabi-Behmel syndrome type 12 tests
Sinoatrial node dysfunction and deafness1 test
SLC35A2-congenital disorder of glycosylation5 tests
Sleep-related hypermotor epilepsy2 tests
Smith-Lemli-Opitz syndrome1 test
Smith-Magenis syndrome2 tests
Spastic ataxia 13 tests
Spastic ataxia 43 tests
Spastic ataxia 54 tests
Spinal muscular atrophy, type II4 tests
Spinal muscular atrophy, type IV4 tests
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome2 tests
Spinocerebellar ataxia 74 tests
Spinocerebellar ataxia type 14 tests
Spinocerebellar ataxia type 104 tests
Spinocerebellar ataxia type 113 tests
Spinocerebellar ataxia type 123 tests
Spinocerebellar ataxia type 133 tests
Spinocerebellar ataxia type 143 tests
Spinocerebellar ataxia type 15/163 tests
Spinocerebellar ataxia type 174 tests
Spinocerebellar ataxia type 19/223 tests
Spinocerebellar ataxia type 24 tests
Spinocerebellar ataxia type 233 tests
Spinocerebellar ataxia type 263 tests
Spinocerebellar ataxia type 273 tests
Spinocerebellar ataxia type 285 tests
Spinocerebellar ataxia type 293 tests
Spinocerebellar ataxia type 353 tests
Spinocerebellar ataxia type 53 tests
Spinocerebellar ataxia type 61 test
Spinocerebellar ataxia type 84 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 13 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 25 tests
Split hand-foot malformation 1 with sensorineural hearing loss1 test
Spondyloperipheral dysplasia1 test
Steinert myotonic dystrophy syndrome3 tests
Stickler syndrome type 11 test
Stickler syndrome type 21 test
Stickler syndrome, type 41 test
Stickler syndrome, type 51 test
Syndromic X-linked intellectual disability 942 tests
Syndromic X-linked intellectual disability Claes-Jensen type2 tests
Syndromic X-linked intellectual disability Hedera type2 tests
Syndromic X-linked intellectual disability Snyder type2 tests
Temtamy preaxial brachydactyly syndrome1 test
Tibial muscular dystrophy4 tests
Tietz syndrome1 test
Torsion dystonia 62 tests
Townes-Brocks syndrome 11 test
Treacher Collins syndrome 11 test
Treacher Collins syndrome 21 test
Treacher Collins syndrome 31 test
Tremor, hereditary essential, 41 test
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome3 tests
Troyer syndrome4 tests
Tuberous sclerosis 13 tests
Tuberous sclerosis 27 tests
Type 2 diabetes mellitus7 tests
Ullrich congenital muscular dystrophy 1A1 test
Unverricht-Lundborg syndrome4 tests
Usher syndrome type 11 test
Usher syndrome type 1C1 test
Usher syndrome type 1D1 test
Usher syndrome type 1F1 test
Usher syndrome type 1G1 test
Usher syndrome type 1J1 test
Usher syndrome type 2A1 test
Usher syndrome type 2C1 test
Usher syndrome type 2D1 test
Usher syndrome type 31 test
Vanishing white matter disease6 tests
Velocardiofacial syndrome1 test
Von Hippel-Lindau syndrome2 tests
Waardenburg syndrome type 11 test
Waardenburg syndrome type 2A1 test
Waardenburg syndrome type 2D1 test
Waardenburg syndrome type 2E1 test
Waardenburg syndrome type 31 test
Waardenburg syndrome type 4A1 test
Waardenburg syndrome type 4B1 test
Waardenburg syndrome type 4C1 test
Warburg micro syndrome 12 tests
Welander distal myopathy1 test
Werdnig-Hoffmann disease4 tests
West syndrome2 tests
Wolfram syndrome 11 test
Wolfram syndrome 21 test
Wolfram-like syndrome1 test
X-linked Alport syndrome4 tests
X-linked complicated corpus callosum dysgenesis3 tests
X-linked Emery-Dreifuss muscular dystrophy2 tests
X-linked hydrocephalus syndrome3 tests
X-linked intellectual disability Cabezas type2 tests
X-linked intellectual disability, Cantagrel type2 tests
X-linked intellectual disability-cerebellar hypoplasia syndrome2 tests
X-linked lissencephaly with abnormal genitalia3 tests
X-linked mixed hearing loss with perilymphatic gusher1 test
X-linked myopathy with postural muscle atrophy4 tests
Xeroderma pigmentosum group B1 test
Xeroderma pigmentosum, group D1 test
Zimmermann-Laband syndrome 21 test

List of services

Carrier Testing
Clinical Testing/Confirmation of Mutations Identified Previously: Order Code: 185, comments
This test detects previously identified sequence variants in at-risk family members.

List of certifications/licenses

Certifications

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 22D0069726, Expiration date: 2024-11-16
CAP, Number: 3733701, Expiration date: 2025-02-01

Licenses

CA - California Department of Public Health CDPH, Number: CDS 00800075, Expiration date: 2025-03-15
MA - Executive Office of Health and Human Services EOHHS, Number: 5879, Expiration date: 2024-05-31
MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 548, Effective date: 2019-03-11 Non-expiring
NY - New York State Department of Health NYSDOH, Number: 4118, Expiration date: 2024-06-30
PA - Pennsylvania Department of Health PADOH, Number: 25752A, Expiration date: 2024-08-15
RI - State of Rhode Island Department of Health RIDOH, Number: LCO00856, Expiration date: 2025-12-30

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