MNG Laboratories (Medical Neurogenetics, LLC.)

Personnel

Director: Zena Wolf, PhD, FACMG, Lab Director
Phone: 678-225-0222
Fax: 678-225-0212
Email: MNGquickresponse@labcorp.com
Director: Hussain Askree, PhD, ABMGG Board Certified, Diplomate of the American Board of Medica, Technical Director
Phone: 678-225-0222
Fax: 678-225-0212
Director: Keith Hyland, PhD, Lab Director
Phone: 678-225-0222
Fax: 678-225-0212
Email: khyland@mnglabs.com
Trey Langley, PhD, Staff
Phone: 678-225-0222
Fax: 678-225-0212
Email: tlangley@mnglabs.com

Conditions and tests

1048 conditions/phenotypes with 108 tests
Enter text to narrow down the list

3-methylcrotonyl-CoA carboxylase 1 deficiency1 test
3-methylcrotonyl-CoA carboxylase 2 deficiency1 test
3-methylglutaconic aciduria, type VIIA1 test
3-methylglutaconic aciduria, type VIIB1 test
3M syndrome 11 test
3M syndrome 21 test
3M syndrome 31 test
3MC syndrome 21 test
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency1 test
Abortive cerebellar ataxia1 test
ABri amyloidosis1 test
Achondrogenesis type II1 test
Achondroplasia1 test
Acquired hemoglobin H disease1 test
Acrocapitofemoral dysplasia1 test
Acromicric dysplasia1 test
Actin accumulation myopathy1 test
Action myoclonus-renal failure syndrome2 tests
Acute intermittent porphyria1 test
Acyl-CoA oxidase deficiency1 test
Adams-Oliver syndrome 21 test
ADan amyloidosis1 test
Adenosine kinase deficiency1 test
Adenylosuccinate lyase deficiency1 test
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1 test
Adrenoleukodystrophy1 test
Adult hypophosphatasia1 test
Aicardi-Goutieres syndrome 41 test
Aldosterone-producing adenoma with seizures and neurological abnormalities1 test
Alexander disease1 test
ALG1-congenital disorder of glycosylation1 test
ALG11-congenital disorder of glycosylation1 test
ALG12-congenital disorder of glycosylation1 test
ALG2-congenital disorder of glycosylation1 test
ALG3-congenital disorder of glycosylation1 test
alpha Thalassemia1 test
Alpha thalassemia-X-linked intellectual disability syndrome1 test
Alpha-methylacyl-CoA racemase deficiency1 test
Alpha-N-acetylgalactosaminidase deficiency type 11 test
Alport syndrome 3b, autosomal recessive1 test
Alstrom syndrome1 test
Alternating hemiplegia of childhood 21 test
Alzheimer disease 32 tests
Alzheimer disease 41 test
Alzheimer disease 91 test
Aminoacylase 1 deficiency1 test
Amyloidosis, hereditary systemic 11 test
Amyotrophic lateral sclerosis1 test
Amyotrophic lateral sclerosis type 12 tests
Amyotrophic lateral sclerosis type 101 test
Amyotrophic lateral sclerosis type 111 test
Amyotrophic lateral sclerosis type 121 test
Amyotrophic lateral sclerosis type 151 test
Amyotrophic lateral sclerosis type 161 test
Amyotrophic lateral sclerosis type 181 test
Amyotrophic lateral sclerosis type 191 test
Amyotrophic lateral sclerosis type 2, juvenile1 test
Amyotrophic lateral sclerosis type 201 test
Amyotrophic lateral sclerosis type 211 test
Amyotrophic lateral sclerosis type 41 test
Amyotrophic lateral sclerosis type 51 test
Amyotrophic lateral sclerosis type 61 test
Amyotrophic lateral sclerosis type 81 test
Amyotrophic lateral sclerosis type 91 test
Amyotrophic lateral sclerosis-parkinsonism-dementia complex1 test
Andersen Tawil syndrome1 test
Anophthalmia/microphthalmia-esophageal atresia syndrome2 tests
Apparent mineralocorticoid excess1 test
Arginase deficiency1 test
Arts syndrome1 test
Aspartylglucosaminuria1 test
Ateleiotic dwarfism2 tests
Atypical hemolytic-uremic syndrome1 test
Aural atresia, congenital1 test
Auriculocondylar syndrome 31 test
Autism spectrum disorder due to AUTS2 deficiency1 test
Autism, susceptibility to, 171 test
Autism, susceptibility to, X-linked 31 test
Autosomal dominant Alport syndrome2 tests
Autosomal dominant auditory neuropathy 11 test
Autosomal dominant deafness - onychodystrophy syndrome1 test
Autosomal dominant hypocalcemia 11 test
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1 test
Autosomal dominant isolated somatotropin deficiency2 tests
Autosomal dominant nocturnal frontal lobe epilepsy 11 test
Autosomal dominant nocturnal frontal lobe epilepsy 52 tests
Autosomal dominant nonsyndromic hearing loss 11 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 172 tests
Autosomal dominant nonsyndromic hearing loss 201 test
Autosomal dominant nonsyndromic hearing loss 231 test
Autosomal dominant nonsyndromic hearing loss 251 test
Autosomal dominant nonsyndromic hearing loss 2A1 test
Autosomal dominant nonsyndromic hearing loss 361 test
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 691 test
Autosomal dominant nonsyndromic hearing loss 701 test
Autosomal dominant nonsyndromic hearing loss 91 test
Autosomal dominant optic atrophy classic form1 test
Autosomal dominant osteopetrosis 11 test
Autosomal dominant Parkinson disease 81 test
Autosomal dominant pseudohypoaldosteronism type 11 test
Autosomal dominant Robinow syndrome 21 test
Autosomal dominant Robinow syndrome 31 test
Autosomal recessive Alport syndrome2 tests
Autosomal recessive ataxia due to ubiquinone deficiency1 test
Autosomal recessive distal spinal muscular atrophy 11 test
Autosomal recessive early-onset Parkinson disease 71 test
Autosomal recessive nonsyndromic hearing loss 1031 test
Autosomal recessive nonsyndromic hearing loss 121 test
Autosomal recessive nonsyndromic hearing loss 161 test
Autosomal recessive nonsyndromic hearing loss 18A1 test
Autosomal recessive nonsyndromic hearing loss 21 test
Autosomal recessive nonsyndromic hearing loss 211 test
Autosomal recessive nonsyndromic hearing loss 231 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 371 test
Autosomal recessive nonsyndromic hearing loss 41 test
Autosomal recessive nonsyndromic hearing loss 481 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 71 test
Autosomal recessive nonsyndromic hearing loss 701 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 861 test
Autosomal recessive nonsyndromic hearing loss 91 test
Autosomal recessive nonsyndromic hearing loss 911 test
Autosomal recessive nonsyndromic hearing loss 971 test
Ayme-Gripp syndrome2 tests
Azorean disease3 tests
Bailey-Bloch congenital myopathy1 test
Bamforth-Lazarus syndrome1 test
Baraitser-Winter syndrome 11 test
Baraitser-winter syndrome 22 tests
Bartter disease type 11 test
Bartter disease type 21 test
Bartter disease type 31 test
Bartter disease type 4A2 tests
Bartter disease type 4B1 test
Basal ganglia calcification, idiopathic, 41 test
Basal ganglia calcification, idiopathic, 51 test
Basal ganglia calcification, idiopathic, 61 test
Becker nevus syndrome1 test
Bernard Soulier syndrome1 test
beta Thalassemia1 test
Beta-hydroxyisobutyryl-CoA deacylase deficiency1 test
Bethlem myopathy 1A1 test
Bifunctional peroxisomal enzyme deficiency2 tests
Bilateral frontoparietal polymicrogyria1 test
Bilateral microtia-deafness-cleft palate syndrome1 test
Biotinidase deficiency1 test
Blepharophimosis - intellectual disability syndrome, SBBYS type1 test
Bloom syndrome1 test
Bohring-Opitz syndrome1 test
Brachycephaly, trichomegaly, and developmental delay1 test
Brachydactyly type A11 test
Branchiooculofacial syndrome1 test
Bruck syndrome 11 test
Bruck syndrome 21 test
CARASIL syndrome1 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 21 test
Cardiofaciocutaneous syndrome 31 test
Cardiofaciocutaneous syndrome 41 test
Carnitine palmitoyl transferase II deficiency, neonatal form1 test
Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
CBL-related disorder1 test
Central core myopathy2 tests
Cerebellar atrophy with seizures and variable developmental delay1 test
Cerebral amyloid angiopathy, APP-related2 tests
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21 test
Cerebral cavernous malformation1 test
Cerebral cavernous malformation 21 test
Cerebral folate transport deficiency2 tests
Cerebral palsy, spastic quadriplegic, 31 test
Cerebroretinal microangiopathy with calcifications and cysts 21 test
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
Ceroid lipofuscinosis, neuronal, 6A1 test
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)1 test
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1 test
Charcot-Marie-Tooth disease1 test
Charcot-Marie-Tooth disease axonal type 2Z1 test
Charcot-Marie-Tooth disease type 1E2 tests
Charcot-Marie-Tooth disease X-linked recessive 41 test
Charcot-Marie-Tooth disease X-linked recessive 51 test
Charcot-Marie-Tooth disease, type IA2 tests
CHARGE syndrome1 test
Childhood hypophosphatasia1 test
Childhood onset GLUT1 deficiency syndrome 21 test
CHIME syndrome1 test
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1 test
Christianson syndrome2 tests
Citrullinemia type I1 test
CK syndrome1 test
Cobalamin C disease1 test
Cobblestone lissencephaly without muscular or ocular involvement1 test
CODAS syndrome1 test
Coenzyme Q10 deficiency, primary, 11 test
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1 test
Cold-induced sweating syndrome 11 test
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness1 test
Combined malonic and methylmalonic acidemia1 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21 test
Combined oxidative phosphorylation defect type 111 test
Combined oxidative phosphorylation defect type 141 test
Combined oxidative phosphorylation defect type 271 test
Combined oxidative phosphorylation deficiency 441 test
Combined PSAP deficiency1 test
Complex cortical dysplasia with other brain malformations 21 test
Compton-North congenital myopathy1 test
Cone-rod dystrophy and hearing loss 11 test
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1 test
Congenital brain dysgenesis due to glutamine synthetase deficiency1 test
Congenital disorder of deglycosylation 11 test
Congenital disorder of glycosylation type 1E1 test
Congenital dyserythropoietic anemia1 test
Congenital hyperammonemia, type I1 test
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome1 test
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome1 test
Congenital muscular dystrophy with intellectual disability and severe epilepsy1 test
Congenital myasthenic syndrome 101 test
Congenital myasthenic syndrome 111 test
Congenital myasthenic syndrome 121 test
Congenital myasthenic syndrome 141 test
Congenital myasthenic syndrome 161 test
Congenital myasthenic syndrome 171 test
Congenital myasthenic syndrome 181 test
Congenital myasthenic syndrome 191 test
Congenital myasthenic syndrome 201 test
Congenital myasthenic syndrome 2A1 test
Congenital myasthenic syndrome 2C1 test
Congenital myasthenic syndrome 3A1 test
Congenital myasthenic syndrome 3B1 test
Congenital myasthenic syndrome 3C1 test
Congenital myasthenic syndrome 4A1 test
Congenital myasthenic syndrome 4B1 test
Congenital myasthenic syndrome 4C1 test
Congenital myasthenic syndrome 51 test
Congenital myasthenic syndrome 71 test
Congenital myasthenic syndrome 81 test
Congenital myasthenic syndrome 91 test
Congenital nongoitrous hypothyroidism 61 test
Corpus callosum agenesis-abnormal genitalia syndrome1 test
Cortical dysplasia-focal epilepsy syndrome1 test
Corticosterone 18-monooxygenase deficiency1 test
Corticosterone methyloxidase type 2 deficiency1 test
Craniodiaphyseal dysplasia, autosomal dominant1 test
Craniofacial dysplasia - osteopenia syndrome1 test
Craniofacial-deafness-hand syndrome1 test
Craniometaphyseal dysplasia, autosomal dominant1 test
Creatine transporter deficiency1 test
Cystic leukoencephalopathy without megalencephaly1 test
D-2-hydroxyglutaric aciduria 11 test
D-Glyceric aciduria1 test
Danon disease1 test
Deafness dystonia syndrome1 test
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
Deafness, X-linked 51 test
Deficiency of 2-methylbutyryl-CoA dehydrogenase1 test
Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
Deficiency of butyryl-CoA dehydrogenase2 tests
Deficiency of guanidinoacetate methyltransferase1 test
Deficiency of iodide peroxidase1 test
Deficiency of malonyl-CoA decarboxylase1 test
Deficiency of steroid 11-beta-monooxygenase1 test
Dejerine-Sottas disease1 test
Dent disease type 11 test
Dentatorubral-pallidoluysian atrophy4 tests
Dentinogenesis imperfecta type 31 test
Developmental and epileptic encephalopathy 1011 test
Developmental and epileptic encephalopathy 1111 test
Developmental and epileptic encephalopathy 6B2 tests
Developmental and epileptic encephalopathy 941 test
Developmental and epileptic encephalopathy 982 tests
Developmental and epileptic encephalopathy 991 test
Developmental and epileptic encephalopathy, 11 test
Developmental and epileptic encephalopathy, 112 tests
Developmental and epileptic encephalopathy, 121 test
Developmental and epileptic encephalopathy, 132 tests
Developmental and epileptic encephalopathy, 142 tests
Developmental and epileptic encephalopathy, 162 tests
Developmental and epileptic encephalopathy, 171 test
Developmental and epileptic encephalopathy, 182 tests
Developmental and epileptic encephalopathy, 192 tests
Developmental and epileptic encephalopathy, 22 tests
Developmental and epileptic encephalopathy, 211 test
Developmental and epileptic encephalopathy, 231 test
Developmental and epileptic encephalopathy, 241 test
Developmental and epileptic encephalopathy, 261 test
Developmental and epileptic encephalopathy, 272 tests
Developmental and epileptic encephalopathy, 291 test
Developmental and epileptic encephalopathy, 31A3 tests
Developmental and epileptic encephalopathy, 31B2 tests
Developmental and epileptic encephalopathy, 321 test
Developmental and epileptic encephalopathy, 331 test
Developmental and epileptic encephalopathy, 351 test
Developmental and epileptic encephalopathy, 361 test
Developmental and epileptic encephalopathy, 371 test
Developmental and epileptic encephalopathy, 381 test
Developmental and epileptic encephalopathy, 41 test
Developmental and epileptic encephalopathy, 401 test
Developmental and epileptic encephalopathy, 422 tests
Developmental and epileptic encephalopathy, 431 test
Developmental and epileptic encephalopathy, 451 test
Developmental and epileptic encephalopathy, 461 test
Developmental and epileptic encephalopathy, 471 test
Developmental and epileptic encephalopathy, 481 test
Developmental and epileptic encephalopathy, 491 test
Developmental and epileptic encephalopathy, 52 tests
Developmental and epileptic encephalopathy, 501 test
Developmental and epileptic encephalopathy, 522 tests
Developmental and epileptic encephalopathy, 551 test
Developmental and epileptic encephalopathy, 72 tests
Developmental and epileptic encephalopathy, 742 tests
Developmental and epileptic encephalopathy, 82 tests
Developmental and epileptic encephalopathy, 811 test
Developmental and epileptic encephalopathy, 92 tests
Developmental delay with or without epilepsy2 tests
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy1 test
Developmental malformations-deafness-dystonia syndrome1 test
Diabetes mellitus, permanent neonatal 21 test
Diabetes mellitus, permanent neonatal 33 tests
Diabetes mellitus, transient neonatal, 23 tests
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis1 test
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1 test
DiGeorge syndrome1 test
Dihydropyrimidinase deficiency1 test
Disorder of lysosomal-related organelles1 test
DPAGT1-congenital disorder of glycosylation1 test
Duane retraction syndrome 3 with or without deafness1 test
Duane-radial ray syndrome1 test
DYRK1A-related intellectual disability syndrome1 test
Dysplasminogenemia1 test
Early-onset autosomal dominant Alzheimer disease1 test
Early-onset Lafora body disease1 test
EAST syndrome2 tests
Ehlers-Danlos syndrome1 test
Ehlers-Danlos syndrome, arthrochalasia type1 test
Ehlers-danlos syndrome, arthrochalasia type, 21 test
Eichsfeld type congenital muscular dystrophy1 test
Ellis-van Creveld syndrome1 test
Emery-Dreifuss muscular dystrophy1 test
Encephalopathy due to GLUT1 deficiency1 test
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 71 test
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11 test
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities1 test
Encephalopathy, porphyria-related1 test
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 11 test
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome1 test
Epilepsy, childhood absence, susceptibility to, 51 test
Epilepsy, childhood absence, susceptibility to, 61 test
Epilepsy, early-onset, vitamin B6-dependent1 test
Epilepsy, familial adult myoclonic, 52 tests
Epilepsy, familial focal, with variable foci 11 test
Epilepsy, familial focal, with variable foci 21 test
Epilepsy, familial focal, with variable foci 31 test
Epilepsy, idiopathic generalized, susceptibility to, 102 tests
Epilepsy, idiopathic generalized, susceptibility to, 112 tests
Epilepsy, idiopathic generalized, susceptibility to, 123 tests
Epilepsy, idiopathic generalized, susceptibility to, 132 tests
Epilepsy, idiopathic generalized, susceptibility to, 161 test
Epilepsy, idiopathic generalized, susceptibility to, 181 test
Epilepsy, idiopathic generalized, susceptibility to, 71 test
Epilepsy, idiopathic generalized, susceptibility to, 81 test
Epilepsy, idiopathic generalized, susceptibility to, 92 tests
Epilepsy, juvenile absence, susceptibility to, 11 test
Epilepsy, juvenile myoclonic, susceptibility to, 101 test
Epilepsy, progressive myoclonic, 1B2 tests
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders2 tests
Epileptic encephalopathy, infantile or early childhood, 11 test
Epileptic encephalopathy, infantile or early childhood, 31 test
Epiphyseal dysplasia, multiple, 31 test
Episodic ataxia type 11 test
Episodic ataxia, type 92 tests
Episodic kinesigenic dyskinesia 12 tests
Episodic pain syndrome, familial, 21 test
Ethylmalonic encephalopathy1 test
Exercise-induced hyperinsulinism1 test
Factor VIII deficiency1 test
Factor XIII, A subunit, deficiency of1 test
Factor XIII, b subunit, deficiency of1 test
FADD-related immunodeficiency1 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial dysautonomia1 test
Familial encephalopathy with neuroserpin inclusion bodies1 test
Familial episodic pain syndrome with predominantly lower limb involvement1 test
Familial episodic pain syndrome with predominantly upper body involvement1 test
Familial gestational hyperthyroidism1 test
Familial hemophagocytic lymphohistiocytosis2 tests
Familial hyperaldosteronism type III1 test
Familial hyperkalemic periodic paralysis1 test
Familial hyperthyroidism due to mutations in TSH receptor1 test
Familial hypocalciuric hypercalcemia 11 test
Familial hypokalemia-hypomagnesemia2 tests
Familial infantile myasthenia1 test
Familial infantile myoclonic epilepsy3 tests
Familial meningioma1 test
Familial porphyria cutanea tarda1 test
Familial temporal lobe epilepsy 51 test
Familial temporal lobe epilepsy 71 test
Familial temporal lobe epilepsy 81 test
Familial visceral amyloidosis, Ostertag type1 test
Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
Fanconi anemia complementation group C1 test
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young3 tests
Fatal infantile hypertonic myofibrillar myopathy1 test
Fatty acyl-CoA reductase 1 deficiency1 test
Febrile seizures, familial, 111 test
Febrile seizures, familial, 82 tests
FG syndrome 41 test
Fibrochondrogenesis 12 tests
Fibrochondrogenesis 21 test
Filippi syndrome1 test
Floating-Harbor syndrome1 test
Focal segmental glomerulosclerosis 91 test
Fragile X syndrome1 test
Friedreich ataxia 12 tests
Frontorhiny1 test
Frontotemporal dementia3 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 11 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 21 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 31 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 61 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 71 test
Fumarase deficiency1 test
Galactosylceramide beta-galactosidase deficiency1 test
Gamma-aminobutyric acid transaminase deficiency1 test
Gaucher disease1 test
Gaucher disease type II1 test
Gaucher disease type III1 test
Generalized epilepsy with febrile seizures plus, type 12 tests
Generalized epilepsy with febrile seizures plus, type 101 test
Generalized epilepsy with febrile seizures plus, type 22 tests
Generalized epilepsy with febrile seizures plus, type 92 tests
Genitopatellar syndrome1 test
Glanzmann thrombasthenia1 test
Glucocorticoid-remediable aldosteronism1 test
Glutamate pyruvate transaminase 2 deficiency1 test
Glutaric aciduria, type 11 test
Glycine encephalopathy 21 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
Glycogen storage disease type III1 test
Glycogen storage disease, type II1 test
Glycogen storage disease, type VI1 test
GM1 gangliosidosis type 21 test
Gray platelet syndrome1 test
Griscelli syndrome type 11 test
Griscelli syndrome type 21 test
Growth delay due to insulin-like growth factor I resistance1 test
Growth delay due to insulin-like growth factor type 1 deficiency1 test
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant1 test
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
Guillain-Barre syndrome, familial1 test
Hajdu-Cheney syndrome1 test
Hartsfield-Bixler-Demyer syndrome1 test
Hb SS disease1 test
Hearing loss, autosomal dominant 34, with or without inflammation1 test
Hearing loss, autosomal dominant 371 test
Hearing loss, autosomal dominant 711 test
Hearing loss, autosomal dominant 721 test
Hearing loss, autosomal dominant 731 test
Hearing loss, autosomal dominant 901 test
Hearing loss, autosomal recessive 1101 test
Hearing loss, autosomal recessive 1131 test
Hearing loss, autosomal recessive 571 test
Hearing loss, autosomal recessive 941 test
Hearing loss, X-linked 11 test
Hearing loss, X-linked 41 test
Hearing loss, X-linked 62 tests
Heimler syndrome 11 test
Heimler syndrome 21 test
Hemophagocytic syndrome1 test
Hemophilia2 tests
Hemorrhage, intracerebral, susceptibility to1 test
Hennekam lymphangiectasia-lymphedema syndrome 12 tests
Hereditary cerebral amyloid angiopathy, Icelandic type1 test
Hereditary disease12 tests
Hereditary factor I deficiency disease1 test
Hereditary factor IX deficiency disease1 test
Hereditary liability to pressure palsies1 test
Hereditary sensory and autonomic neuropathy1 test
Hereditary spastic paraplegia 351 test
Hereditary spastic paraplegia 471 test
Hereditary spastic paraplegia 501 test
Hereditary spastic paraplegia 511 test
Hereditary spastic paraplegia 771 test
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11 test
Hereditary thrombophilia1 test
Hereditary von Willebrand disease2 tests
High myopia-sensorineural deafness syndrome1 test
Hogue-Janssens syndrome 11 test
Holoprosencephaly 91 test
Houge-Janssens syndrome 21 test
HSD10 mitochondrial disease1 test
Huntington disease1 test
Huntington disease-like 21 test
Hydrocephalus, nonsyndromic, autosomal recessive 21 test
Hypercholesterolemia, familial, 11 test
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency1 test
Hyperekplexia 11 test
Hyperinsulinemic hypoglycemia, familial, 13 tests
Hyperinsulinemic hypoglycemia, familial, 41 test
Hyperinsulinism due to glucokinase deficiency3 tests
Hyperinsulinism due to INSR deficiency1 test
Hyperinsulinism-hyperammonemia syndrome1 test
Hyperlysinemia1 test
Hyperphosphatasia with intellectual disability syndrome 11 test
Hyperphosphatasia with intellectual disability syndrome 21 test
Hyperphosphatasia with intellectual disability syndrome 41 test
Hyperphosphatasia with intellectual disability syndrome 51 test
Hyperphosphatasia with intellectual disability syndrome 61 test
Hypochondroplasia1 test
Hypogonadotropic hypogonadism 1 with or without anosmia1 test
Hypogonadotropic hypogonadism 10 with or without anosmia1 test
Hypogonadotropic hypogonadism 11 with or without anosmia1 test
Hypogonadotropic hypogonadism 12 with or without anosmia1 test
Hypogonadotropic hypogonadism 14 with or without anosmia1 test
Hypogonadotropic hypogonadism 15 with or without anosmia1 test
Hypogonadotropic hypogonadism 16 with or without anosmia1 test
Hypogonadotropic hypogonadism 17 with or without anosmia1 test
Hypogonadotropic hypogonadism 18 with or without anosmia2 tests
Hypogonadotropic hypogonadism 19 with or without anosmia2 tests
Hypogonadotropic hypogonadism 2 with or without anosmia1 test
Hypogonadotropic hypogonadism 20 with or without anosmia1 test
Hypogonadotropic hypogonadism 21 with or without anosmia1 test
Hypogonadotropic hypogonadism 22 with or without anosmia1 test
Hypogonadotropic hypogonadism 3 with or without anosmia3 tests
Hypogonadotropic hypogonadism 4 with or without anosmia1 test
Hypogonadotropic hypogonadism 5 with or without anosmia1 test
Hypogonadotropic hypogonadism 6 with or without anosmia1 test
Hypogonadotropic hypogonadism 8 with or without anosmia1 test
Hypogonadotropic hypogonadism 9 with or without anosmia1 test
Hypoinsulinemic hypoglycemia and body hemihypertrophy1 test
Hypokalemic periodic paralysis, type 12 tests
Hypokalemic periodic paralysis, type 21 test
Hypomagnesemia, seizures, and intellectual disability 11 test
Hypomyelinating leukodystrophy 101 test
Hypomyelinating leukodystrophy 31 test
Hypophosphatemic rickets, autosomal recessive, 11 test
Hypophosphatemic rickets, autosomal recessive, 21 test
Hypophosphatemic rickets, X-linked recessive1 test
Hypothyroidism due to TSH receptor mutations1 test
Hypothyroidism, congenital, nongoitrous, 21 test
Hypothyroidism, congenital, nongoitrous, 71 test
Hypotonia, ataxia, and delayed development syndrome1 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 test
Idiopathic basal ganglia calcification 11 test
IFAP syndrome 1, with or without BRESHECK syndrome1 test
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11 test
Infantile cerebellar-retinal degeneration1 test
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly1 test
Infantile convulsions and choreoathetosis2 tests
Infantile cortical hyperostosis1 test
Infantile hypophosphatasia1 test
Infantile neuroaxonal dystrophy1 test
Infantile onset spinocerebellar ataxia1 test
Infantile-onset ascending hereditary spastic paralysis1 test
Inherited bleeding disorder, platelet-type2 tests
Intellectual disability, autosomal dominant 11 test
Intellectual disability, autosomal dominant 132 tests
Intellectual disability, autosomal dominant 202 tests
Intellectual disability, autosomal dominant 31 test
Intellectual disability, autosomal dominant 421 test
Intellectual disability, autosomal dominant 431 test
Intellectual disability, autosomal dominant 481 test
Intellectual disability, autosomal dominant 53 tests
Intellectual disability, autosomal dominant 55, with seizures1 test
Intellectual disability, autosomal dominant 63 tests
Intellectual disability, autosomal dominant 81 test
Intellectual disability, autosomal recessive 11 test
Intellectual disability, autosomal recessive 131 test
Intellectual disability, autosomal recessive 531 test
Intellectual disability, autosomal recessive 571 test
Intellectual disability, X-linked 11 test
Intellectual disability, X-linked 1021 test
Intellectual disability, X-linked 1041 test
Intellectual disability, X-linked 491 test
Intellectual disability, X-linked syndromic, Turner type1 test
Intellectual disability, X-linked, syndromic, Bain type1 test
Intellectual disability, X-linked, with panhypopituitarism2 tests
Intellectual disability-hypotonic facies syndrome, X-linked, 11 test
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1 test
Iodotyrosine deiodination defect1 test
Iodotyrosyl coupling defect1 test
Ischemic stroke1 test
Isolated growth hormone deficiency type IB2 tests
Isolated growth hormone deficiency, type 42 tests
Isolated neonatal sclerosing cholangitis1 test
Isolated thyroid-stimulating hormone deficiency1 test
Jervell and Lange-Nielsen syndrome 11 test
Jervell and Lange-Nielsen syndrome 21 test
Juberg-Hayward syndrome1 test
Juvenile myoclonic epilepsy1 test
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
Juvenile primary lateral sclerosis1 test
Kabuki syndrome 11 test
KBG syndrome1 test
Keppen-Lubinsky syndrome1 test
Kleefstra syndrome 11 test
Klippel-Feil syndrome 2, autosomal recessive1 test
Kniest dysplasia1 test
Knobloch syndrome 11 test
Koolen-de Vries syndrome1 test
Kostmann syndrome1 test
Krabbe disease due to saposin A deficiency1 test
Kufor-Rakeb syndrome1 test
Lafora disease1 test
Landau-Kleffner syndrome2 tests
Langer mesomelic dysplasia syndrome1 test
Laron-type isolated somatotropin defect2 tests
Larsen-like syndrome, B3GAT3 type1 test
Legius syndrome1 test
LEOPARD syndrome 11 test
LEOPARD syndrome 21 test
LEOPARD syndrome 31 test
Leri-Weill dyschondrosteosis2 tests
Leucine-induced hypoglycemia3 tests
Leukocyte adhesion deficiency 31 test
Leukodystrophy and acquired microcephaly with or without dystonia;1 test
Leukoencephalopathy with vanishing white matter 11 test
Leukoencephalopathy with vanishing white matter 41 test
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome1 test
Lewy body dementia1 test
Liddle syndrome 11 test
Liddle syndrome 21 test
Limb-girdle muscular dystrophy1 test
Lipoic acid synthetase deficiency1 test
Lissencephaly 41 test
Lissencephaly 6 with microcephaly1 test
Lissencephaly 7 with cerebellar hypoplasia1 test
Lissencephaly due to LIS1 mutation1 test
Lissencephaly type 1 due to doublecortin gene mutation1 test
Long QT syndrome 132 tests
Macrocephaly, dysmorphic facies, and psychomotor retardation1 test
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome1 test
Macrophage activation syndrome1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Macrothrombocytopenia, isolated, 1, autosomal dominant1 test
Mandibular hypoplasia-deafness-progeroid syndrome1 test
Mandibulofacial dysostosis with alopecia1 test
Mandibulofacial dysostosis-microcephaly syndrome1 test
Marshall syndrome1 test
Maturity-onset diabetes of the young type 13 tests
Maturity-onset diabetes of the young type 101 test
Maturity-onset diabetes of the young type 111 test
Maturity-onset diabetes of the young type 132 tests
Maturity-onset diabetes of the young type 141 test
Maturity-onset diabetes of the young type 23 tests
Maturity-onset diabetes of the young type 33 tests
Maturity-onset diabetes of the young type 41 test
Maturity-onset diabetes of the young type 61 test
Maturity-onset diabetes of the young type 71 test
Maturity-onset diabetes of the young type 81 test
Maturity-onset diabetes of the young type 91 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
Megalencephalic leukoencephalopathy with subcortical cysts 2A1 test
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
MEND syndrome1 test
Menkes kinky-hair syndrome1 test
Metachondromatosis1 test
Metachromatic leukodystrophy1 test
Metaphyseal chondrodysplasia, Schmid type1 test
Methylcobalamin deficiency type cblG1 test
Methylmalonic acidemia with homocystinuria, type cblJ1 test
Methylmalonic aciduria and homocystinuria type cblD1 test
Microcephalic primordial dwarfism due to RTTN deficiency1 test
Microcephaly 1, primary, autosomal recessive1 test
Microcephaly 15, primary, autosomal recessive1 test
Microcephaly, epilepsy, and diabetes syndrome 11 test
Microcephaly, seizures, and developmental delay2 tests
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1 test
Migraine, familial hemiplegic, 11 test
Migraine, familial hemiplegic, 21 test
Migraine, familial hemiplegic, 32 tests
Mirror movements 41 test
Mitchell syndrome1 test
Mitochondrial complex 1 deficiency, nuclear type 131 test
Mitochondrial complex 1 deficiency, nuclear type 181 test
Mitochondrial complex 1 deficiency, nuclear type 71 test
Mitochondrial complex 4 deficiency, nuclear type 121 test
Mitochondrial complex 4 deficiency, nuclear type 71 test
Mitochondrial complex I deficiency, nuclear type 11 test
Mitochondrial complex V (ATP synthase) deficiency nuclear type 4B1 test
Mitochondrial disease5 tests
Mitochondrial DNA depletion syndrome2 tests
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant1 test
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive1 test
MOGS-congenital disorder of glycosylation1 test
Mowat-Wilson syndrome2 tests
Mucolipidosis type IV1 test
Mucopolysaccharidosis, MPS-II1 test
Multiple congenital anomalies-hypotonia-seizures syndrome 11 test
Multiple congenital anomalies-hypotonia-seizures syndrome 21 test
Multiple congenital anomalies-hypotonia-seizures syndrome 31 test
Multiple epiphyseal dysplasia, Beighton type1 test
Multiple mitochondrial dysfunctions syndrome 21 test
Multiple mitochondrial dysfunctions syndrome 31 test
Multiple mitochondrial dysfunctions syndrome 71 test
Myasthenic syndrome, congenital, 1B, fast-channel1 test
Myasthenic syndrome, congenital, 221 test
Myasthenic syndrome, congenital, 23, presynaptic1 test
Myasthenic syndrome, slow-channel congenital1 test
Myoclonic epilepsy of Lafora 11 test
Myoclonic epilepsy of Lafora 21 test
Myoclonic epilepsy, juvenile, susceptibility to, 11 test
Myoclonic epilepsy, juvenile, susceptibility to, 31 test
Myoclonus, familial, 11 test
Myoclonus, familial, 21 test
Myofibrillar myopathy 21 test
Myopathy, centronuclear, 21 test
Myopathy, tubular aggregate, 21 test
Myosin storage myopathy1 test
Myotonic dystrophy type 21 test
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome1 test
Neonatal severe primary hyperparathyroidism1 test
Neonatal-onset encephalopathy with rigidity and seizures1 test
Nephronophthisis 191 test
Nephrotic syndrome 141 test
Nephrotic syndrome, type 81 test
Neurodegeneration with brain iron accumulation 51 test
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures1 test
Neurodevelopmental disorder with epilepsy and hemochromatosis1 test
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1 test
Neurodevelopmental disorder with hypotonia, seizures, and absent language1 test
Neurodevelopmental disorder with involuntary movements1 test
Neurofibromatosis, type 21 test
Neurofibromatosis-Noonan syndrome1 test
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 111 test
Neuronal ceroid lipofuscinosis 131 test
Neuronal ceroid lipofuscinosis 31 test
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 71 test
Neuronal ceroid lipofuscinosis 81 test
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1 test
Neutropenia, severe congenital, 9, autosomal dominant1 test
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type C11 test
Non-acquired combined pituitary hormone deficiency with spine abnormalities3 tests
Noonan syndrome 11 test
Noonan syndrome 111 test
Noonan syndrome 121 test
Noonan syndrome 21 test
Noonan syndrome 31 test
Noonan syndrome 41 test
Noonan syndrome 51 test
Noonan syndrome 61 test
Noonan syndrome 71 test
Noonan syndrome 81 test
Noonan syndrome-like disorder with loose anagen hair 11 test
Noonan syndrome-like disorder with loose anagen hair 21 test
Norman-Roberts syndrome1 test
Occipital pachygyria and polymicrogyria1 test
Ogden syndrome1 test
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1 test
Ornithine carbamoyltransferase deficiency1 test
Osteochondritis dissecans1 test
Osteogenesis imperfecta type 101 test
Osteogenesis imperfecta type 111 test
Osteogenesis imperfecta type 121 test
Osteogenesis imperfecta type 131 test
Osteogenesis imperfecta type 141 test
Osteogenesis imperfecta type 151 test
Osteogenesis imperfecta type 161 test
Osteogenesis imperfecta type 171 test
Osteogenesis imperfecta type 51 test
Osteogenesis imperfecta type 61 test
Osteogenesis imperfecta type 71 test
Osteogenesis imperfecta type 81 test
Osteogenesis imperfecta type 91 test
Osteogenesis imperfecta type I2 tests
Osteogenesis imperfecta type III2 tests
Osteogenesis imperfecta with normal sclerae, dominant form2 tests
Osteogenesis imperfecta, perinatal lethal2 tests
Osteogenesis imperfecta, type 181 test
Osteogenesis imperfecta, type 191 test
Osteoglophonic dysplasia1 test
Osteopathia striata with cranial sclerosis2 tests
Osteoporosis with pseudoglioma1 test
Otofaciocervical syndrome 21 test
Otospondylomegaepiphyseal dysplasia, autosomal dominant2 tests
Otospondylomegaepiphyseal dysplasia, autosomal recessive2 tests
Panhypopituitarism, X-linked2 tests
Parietal foramina 11 test
Parkinson disease, late-onset2 tests
Paroxysmal extreme pain disorder1 test
Paroxysmal nonkinesigenic dyskinesia 11 test
Partington syndrome1 test
PCWH syndrome1 test
PEHO-like syndrome1 test
Pendred syndrome2 tests
Periodic fever syndrome1 test
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
Periventricular heterotopia with microcephaly, autosomal recessive1 test
Periventricular nodular heterotopia 71 test
Permanent neonatal diabetes mellitus1 test
Permanent neonatal diabetes mellitus 12 tests
Peroxisome biogenesis disorder 1A (Zellweger)1 test
Peroxisome biogenesis disorder 1B1 test
Peroxisome biogenesis disorder 4B1 test
Perrault syndrome 11 test
Perrault syndrome 21 test
Perrault syndrome 31 test
Perrault syndrome 41 test
Pettigrew syndrome1 test
PGM1-congenital disorder of glycosylation2 tests
PHARC syndrome1 test
PHGDH deficiency1 test
Phosphoribosylpyrophosphate synthetase superactivity1 test
Pick disease1 test
Pilarowski-Bjornsson syndrome1 test
Pitt-Hopkins-like syndrome 21 test
Pituitary hormone deficiency, combined, 13 tests
Pituitary hormone deficiency, combined, 23 tests
Pituitary hormone deficiency, combined, 63 tests
Plasminogen deficiency, type I1 test
Platelet-type bleeding disorder 101 test
PMM2-congenital disorder of glycosylation2 tests
Polycystic kidney disease 22 tests
Polycystic kidney disease, adult type2 tests
Polydactyly of a biphalangeal thumb1 test
Polydactyly, postaxial, type A81 test
Polyendocrine-polyneuropathy syndrome1 test
Polymicrogyria, bilateral perisylvian, autosomal recessive1 test
Pontocerebellar hypoplasia type 101 test
Pontocerebellar hypoplasia type 61 test
Pontocerebellar hypoplasia type 91 test
Porencephaly-microcephaly-bilateral congenital cataract syndrome1 test
Porphobilinogen synthase deficiency1 test
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome2 tests
Prader-Willi syndrome1 test
Primary ciliary dyskinesia 21 test
Primrose syndrome1 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 21 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 41 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome1 test
Progressive myoclonic epilepsy type 31 test
Progressive myoclonic epilepsy type 61 test
Progressive myoclonic epilepsy type 71 test
Progressive myoclonic epilepsy type 91 test
Progressive myositis ossificans1 test
Progressive sclerosing poliodystrophy1 test
Progressive supranuclear palsy-parkinsonism syndrome1 test
Proline dehydrogenase deficiency1 test
Propionic acidemia1 test
PSAT deficiency1 test
Pseudo-TORCH syndrome 11 test
Pseudohyperaldosteronism type 21 test
Pseudohypoaldosteronism type 2B1 test
Pseudohypoaldosteronism type 2C1 test
Pseudohypoaldosteronism type 2D1 test
Pseudohypoaldosteronism type 2E1 test
Pseudohypoaldosteronism, type IB1, autosomal recessive1 test
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1 test
Pyridoxal phosphate-responsive seizures1 test
Pyridoxine-dependent epilepsy2 tests
Pyruvate dehydrogenase E1-alpha deficiency1 test
Pyruvate dehydrogenase E3-binding protein deficiency1 test
Pyruvate dehydrogenase phosphatase deficiency1 test
Question mark ears, isolated1 test
Radial aplasia-thrombocytopenia syndrome1 test
Radioulnar synostosis with amegakaryocytic thrombocytopenia 11 test
Renal coloboma syndrome1 test
Renal cysts and diabetes syndrome3 tests
Renal tubular acidosis with progressive nerve deafness1 test
Retinitis pigmentosa 391 test
Retinitis pigmentosa 611 test
Rett syndrome4 tests
Rett syndrome, congenital variant1 test
RFT1-congenital disorder of glycosylation1 test
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome2 tests
Roussy-Lévy syndrome1 test
Schaaf-Yang syndrome1 test
Schuurs-Hoeijmakers syndrome1 test
Sclerosteosis 21 test
Secondary hemophagocytic lymphohistiocytosis1 test
Seizures, benign familial infantile, 22 tests
Seizures, benign familial infantile, 32 tests
Seizures, benign familial infantile, 52 tests
Seizures, benign familial neonatal, 12 tests
Seizures, benign familial neonatal, 22 tests
Seizures-scoliosis-macrocephaly syndrome1 test
Selective pituitary resistance to thyroid hormone2 tests
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
Septo-optic dysplasia sequence3 tests
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1 test
Severe intellectual disability-progressive spastic diplegia syndrome1 test
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome1 test
Severe myoclonic epilepsy in infancy3 tests
Severe neonatal-onset encephalopathy with microcephaly3 tests
Severe neurodegenerative syndrome with lipodystrophy1 test
Severe X-linked mitochondrial encephalomyopathy2 tests
Shashi-Pena syndrome1 test
Short stature due to growth hormone secretagogue receptor deficiency2 tests
Short stature due to partial GHR deficiency2 tests
Short stature due to primary acid-labile subunit deficiency1 test
Short stature with nonspecific skeletal abnormalities1 test
Short stature-brachydactyly-obesity-global developmental delay syndrome1 test
Short stature-pituitary and cerebellar defects-small sella turcica syndrome3 tests
SHORT syndrome1 test
SHOX-related short stature2 tests
Sialidosis type 21 test
Silver-Russell syndrome 31 test
Simpson-Golabi-Behmel syndrome type 11 test
Sinoatrial node dysfunction and deafness1 test
Sjögren-Larsson syndrome1 test
Smith-Magenis syndrome1 test
Sotos syndrome1 test
Spastic ataxia 10, autosomal recessive1 test
Spastic paraplegia-severe developmental delay-epilepsy syndrome1 test
Spastic tetraplegia and axial hypotonia, progressive1 test
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome2 tests
Spinocerebellar ataxia 73 tests
Spinocerebellar ataxia type 13 tests
Spinocerebellar ataxia type 104 tests
Spinocerebellar ataxia type 124 tests
Spinocerebellar ataxia type 174 tests
Spinocerebellar ataxia type 23 tests
Spinocerebellar ataxia type 364 tests
Spinocerebellar ataxia type 63 tests
Spinocerebellar ataxia type 84 tests
Split hand-foot malformation 11 test
Spondyloepimetaphyseal dysplasia, aggrecan type1 test
Spondyloepimetaphyseal dysplasia, Bieganski type1 test
Spondyloepiphyseal dysplasia congenita2 tests
Spondyloepiphyseal dysplasia with metatarsal shortening1 test
Spondyloepiphyseal dysplasia, Stanescu type1 test
Spongy degeneration of central nervous system1 test
Steinert myotonic dystrophy syndrome1 test
Stickler syndrome type 11 test
Stickler syndrome type 22 tests
Stickler syndrome, type 42 tests
Stickler syndrome, type 52 tests
Stickler syndrome, type I, nonsyndromic ocular1 test
Stormorken syndrome1 test
Succinate-semialdehyde dehydrogenase deficiency1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 test
Syndromic X-linked intellectual disability 941 test
Syndromic X-linked intellectual disability Claes-Jensen type1 test
Syndromic X-linked intellectual disability Hedera type1 test
Syndromic X-linked intellectual disability Lubs type2 tests
Syndromic X-linked intellectual disability Najm type1 test
Tay-Sachs disease2 tests
Tay-Sachs disease, variant AB1 test
Temple-Baraitser syndrome1 test
Temtamy syndrome1 test
Tenorio syndrome1 test
Thanatophoric dysplasia type 11 test
Thrombocythemia 11 test
Thrombocytopenia 21 test
Thrombocytopenia 41 test
Thrombocytopenia 51 test
Thrombocytopenia 8, with dysmorphic features and developmental delay1 test
Thrombocytopenia, X-linked, intermittent1 test
Thrombotic microangiopathy1 test
Thrombotic thrombocytopenic purpura2 tests
Thyroglobulin synthesis defect1 test
Thyroid dyshormonogenesis 11 test
Thyroid dyshormonogenesis 61 test
Thyroid hormone resistance, generalized, autosomal dominant2 tests
Thyroid hormone resistance, generalized, autosomal recessive2 tests
Thyrotoxic periodic paralysis, susceptibility to, 21 test
Tietz syndrome1 test
Townes-Brocks syndrome 11 test
Treacher Collins syndrome 11 test
Treacher Collins syndrome 21 test
Treacher Collins syndrome 31 test
Tuberous sclerosis 13 tests
Tuberous sclerosis 23 tests
Type 1 diabetes mellitus 203 tests
Type 2 diabetes mellitus4 tests
Unverricht-Lundborg syndrome1 test
Usher syndrome type 12 tests
Usher syndrome type 1C2 tests
Usher syndrome type 1D2 tests
Usher syndrome type 1F2 tests
Usher syndrome type 1G1 test
Usher syndrome type 1J2 tests
Usher syndrome type 2A2 tests
Usher syndrome type 2C2 tests
Usher syndrome type 2D1 test
Usher syndrome type 31 test
Usher syndrome type 3A1 test
Usher syndrome type 3B1 test
Uveal coloboma-cleft lip and palate-intellectual disability1 test
Van Maldergem syndrome 11 test
Variegate porphyria1 test
Ventriculomegaly-cystic kidney disease1 test
Very long chain acyl-CoA dehydrogenase deficiency1 test
Vici syndrome1 test
Vitamin D hydroxylation-deficient rickets, type 1B1 test
Vitamin D-dependent rickets type II with alopecia1 test
Vitamin D-dependent rickets, type 1A1 test
Waardenburg syndrome type 11 test
Waardenburg syndrome type 2A1 test
Waardenburg syndrome type 2E2 tests
Waardenburg syndrome type 31 test
Waardenburg syndrome type 4B1 test
Waardenburg syndrome type 4C2 tests
Waardenburg syndrome, IIa 2F1 test
Weill-Marchesani syndrome 2, dominant1 test
Wolfram syndrome 11 test
Wolfram syndrome 21 test
Wolfram-like syndrome1 test
X-linked agammaglobulinemia2 tests
X-linked agammaglobulinemia with growth hormone deficiency2 tests
X-linked Alport syndrome2 tests
X-linked intellectual disability Cabezas type1 test
X-linked intellectual disability, Cantagrel type1 test
X-linked intellectual disability-cerebellar hypoplasia syndrome1 test
X-linked intellectual disability-psychosis-macroorchidism syndrome2 tests
X-linked lissencephaly with abnormal genitalia1 test
X-linked mixed hearing loss with perilymphatic gusher1 test
Zimmermann-Laband syndrome 12 tests
Zimmermann-Laband syndrome 21 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Sequence Analysis
Carrier testing
Result interpretation
Whole Exome Sequencing
Whole Genome Sequencing

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: 11D0703390, Expiration date: 2026-06-07
CAP, Number: 1441004, Expiration date: 2026-03-11

Licenses

CA - California Department of Public Health CDPH, Number: COS 00800363, Expiration date: 2025-02-28
GA - Georgia Department of Community Health DCH, Number: 060-381, Effective date: 2019-04-30 Non-expiring
MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 1241, Effective date: 2020-01-01 Non-expiring
NY - New York State Department of Health NYSDOH, Number: PFI 8159, Expiration date: 2025-06-30
PA - Pennsylvania Department of Health PADOH, Number: 33840, Expiration date: 2024-08-15
RI - State of Rhode Island Department of Health RIDOH, Number: LCO01166, Expiration date: 2025-12-30

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.