Genetic Services Laboratory

Personnel

Director: Soma Das, PhD, ABMGG Board Certified, Diplomate of the American Board of Medica, Lab Director
Phone: 773-834-0555
Fax: 773-834-0556
Email: sdas@genetics.uchicago.edu
Director: Daniela Del Gaudio, PhD, FACMG, Lab Director
Phone: 773-834-0555
Email: ddelgaudio@bsd.uchicago.edu
Sanjukta Tawde, MS, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 773-834-0555
Fax: 773-702-9130
Email: ucglabs@bsd.uchicago.edu
Malia Triebold, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 773-834-0555
Fax: 773-702-9130
Email: ucgslabs@genetics.uchicago.edu

Conditions and tests

1211 conditions/phenotypes with 142 tests
Enter text to narrow down the list

3 beta-Hydroxysteroid dehydrogenase deficiency1 test
3-M syndrome1 test
3-methylglutaconic aciduria type 12 tests
3-methylglutaconic aciduria, type VIIB1 test
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
46,XX sex reversal 11 test
46,XX sex reversal 41 test
46,XY disorder of sex development2 tests
46,XY disorder of sex development and 46,XY complete gonadal dysgenesis1 test
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency1 test
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome1 test
46,XY sex reversal 12 tests
46,XY sex reversal 21 test
46,XY sex reversal 62 tests
46,XY sex reversal 72 tests
46,XY sex reversal 92 tests
Abdominal obesity-metabolic syndrome 32 tests
Acampomelic campomelic dysplasia with autosomal sex reversal1 test
Acquired hemoglobin H disease1 test
Acquired partial lipodystrophy3 tests
Acrocallosal syndrome1 test
Acrodysostosis 1 with or without hormone resistance2 tests
Acrodysostosis 2 with or without hormone resistance2 tests
Acromelic frontonasal dysostosis1 test
Actin accumulation myopathy3 tests
Action myoclonus-renal failure syndrome1 test
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1 test
Acute myeloid leukemia5 tests
ADan amyloidosis1 test
Adenylosuccinate lyase deficiency2 tests
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2 tests
Adrenal hypoplasia, congenital, with precocious puberty1 test
Adrenoleukodystrophy2 tests
Agenesis of the corpus callosum with peripheral neuropathy1 test
Aicardi Goutieres syndrome1 test
Aicardi-Goutieres syndrome 71 test
Alagille syndrome due to a JAG1 point mutation1 test
Alagille syndrome due to a NOTCH2 point mutation1 test
Albinism1 test
Albright hereditary osteodystrophy1 test
Aldosterone-producing adenoma with seizures and neurological abnormalities1 test
Alexander disease1 test
Allan-Herndon-Dudley syndrome4 tests
Alpha mannosidosis type II1 test
Alpha thalassemia-X-linked intellectual disability syndrome4 tests
Alpha-methylacyl-CoA racemase deficiency1 test
Alpha-thalassemia/intellectual disability syndrome1 test
Alstrom syndrome1 test
Alternating hemiplegia of childhood2 tests
Alzheimer disease 31 test
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia1 test
Amelocerebrohypohidrotic syndrome1 test
Aminoacylase 1 deficiency1 test
Amish lethal microcephaly1 test
Amyotrophic lateral sclerosis type 11 test
Androgen resistance syndrome2 tests
Angelman syndrome7 tests
Aniridia 12 tests
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
Aplastic anemia1 test
Aqueductal stenosis, X-linked, Hydrocephalus due to congenital stenosis of aqueduct of sylvius, X-Linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius, X-linked hydrocephalus1 test
Argininosuccinate lyase deficiency1 test
Aromatase deficiency2 tests
Aromatase excess syndrome1 test
Arthrogryposis, distal, type 1A1 test
Arthrogryposis, distal, type 1B1 test
Arthrogryposis, distal, with impaired proprioception and touch1 test
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome1 test
Asphyxiating thoracic dystrophy 32 tests
Asphyxiating thoracic dystrophy 51 test
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome1 test
Ataxia - oculomotor apraxia type 42 tests
Ataxia with oculomotor apraxia type 31 test
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1 test
Ataxia-pancytopenia syndrome5 tests
Ataxia-telangiectasia syndrome2 tests
Ataxia-telangiectasia-like disorder1 test
Atypical hemolytic-uremic syndrome1 test
Autoimmune disease1 test
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency1 test
Autoimmune lymphoproliferative syndrome type 2A1 test
Autoimmune lymphoproliferative syndrome, type 1a1 test
Autoimmune lymphoproliferative syndrome, type 1b1 test
Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia1 test
Autosomal dominant aplasia and myelodysplasia1 test
Autosomal dominant centronuclear myopathy3 tests
Autosomal dominant cerebellar ataxia, deafness and narcolepsy1 test
Autosomal dominant Kenny-Caffey syndrome1 test
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)2 tests
Autosomal dominant limb-girdle muscular dystrophy type 1G2 tests
Autosomal dominant nonsyndromic hearing loss 11 test
Autosomal dominant Opitz G/BBB syndrome1 test
Autosomal dominant polycystic kidney disease2 tests
Autosomal dominant polycystic liver disease1 test
Autosomal recessive ataxia due to ubiquinone deficiency1 test
Autosomal recessive ataxia, Beauce type1 test
Autosomal recessive Dejerine-Sottas syndrome1 test
Autosomal recessive DOPA responsive dystonia2 tests
Autosomal recessive infantile hypercalcemia1 test
Autosomal recessive Kenny-Caffey syndrome1 test
Autosomal recessive limb-girdle muscular dystrophy type 2A2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2B2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2D2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2G2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2J3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2K2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2L2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2N2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2O2 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 2T2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2U2 tests
Autosomal recessive limb-girdle muscular dystrophy type R182 tests
Autosomal recessive nonsyndromic hearing loss 661 test
Autosomal recessive polycystic kidney disease2 tests
Autosomal recessive primary microcephaly1 test
Autosomal recessive Robinow syndrome3 tests
Autosomal recessive spastic paraplegia type 761 test
Autosomal recessive spastic paraplegia type 781 test
Autosomal recessive spinocerebellar ataxia 101 test
Autosomal recessive spinocerebellar ataxia 111 test
Autosomal recessive spinocerebellar ataxia 121 test
Autosomal recessive spinocerebellar ataxia 131 test
Autosomal recessive spinocerebellar ataxia 151 test
Autosomal recessive spinocerebellar ataxia 161 test
Autosomal recessive spinocerebellar ataxia 171 test
Autosomal recessive spinocerebellar ataxia 181 test
Autosomal recessive spinocerebellar ataxia 21 test
Autosomal recessive spinocerebellar ataxia 201 test
Azorean disease1 test
Bailey-Bloch congenital myopathy2 tests
Baller-Gerold syndrome1 test
Bamforth-Lazarus syndrome1 test
Band heterotopia of brain1 test
Baraitser-winter syndrome 21 test
Bardet-Biedl syndrome4 tests
Bardet-Biedl syndrome 112 tests
Bardet-Biedl syndrome 131 test
Bardet-Biedl syndrome 61 test
Bartsocas-Papas syndrome 11 test
Basal ganglia calcification, idiopathic, 61 test
Beckwith-Wiedemann syndrome2 tests
Benign hereditary chorea1 test
Bernard Soulier syndrome1 test
Beta-hydroxyisobutyryl-CoA deacylase deficiency1 test
Beta-thalassemia-X-linked thrombocytopenia syndrome2 tests
Bethlem myopathy 1A2 tests
Bethlem myopathy 22 tests
Bilateral frontoparietal polymicrogyria2 tests
Biotin-responsive basal ganglia disease2 tests
Biotinidase deficiency1 test
Bloom syndrome2 tests
Bone marrow failure syndrome 32 tests
Bone marrow failure syndrome 51 test
Borjeson-Forssman-Lehmann syndrome2 tests
Brain small vessel disease 1 with or without ocular anomalies1 test
Brain-lung-thyroid syndrome1 test
Branchiootorenal Spectrum Disorders1 test
Breast and/or ovarian cancer3 tests
Breast cancer, susceptibility to3 tests
Breast neoplasm5 tests
Breast-ovarian cancer, familial, susceptibility to, 21 test
Breast-ovarian cancer, familial, susceptibility to, 41 test
C syndrome1 test
C3 deficiency1 test
CADDS1 test
Campomelic dysplasia with autosomal sex reversal1 test
CARASIL syndrome1 test
Carcinoma of colon1 test
Carcinoma of pancreas1 test
Cardiac valvular dysplasia, X-linked1 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 21 test
Carney complex1 test
Carney-Stratakis syndrome1 test
Carpenter syndrome1 test
Cayman type cerebellar ataxia1 test
CEDNIK syndrome1 test
Central core myopathy3 tests
Central hypothyroidism1 test
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency1 test
Cerebellar ataxia and hypergonadotropic hypogonadism1 test
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome2 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 21 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 31 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41 test
Cerebellar ataxia-hypogonadism syndrome1 test
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1 test
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED1 test
Cerebral creatine deficiency syndrome2 tests
Cerebral folate transport deficiency2 tests
Cernunnos-XLF deficiency1 test
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
Ceroid lipofuscinosis, neuronal, 6A1 test
Charcot-Marie-Tooth disease1 test
Charcot-Marie-Tooth disease type 2B11 test
CHARGE association4 tests
Charlevoix-Saguenay spastic ataxia2 tests
Child syndrome1 test
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency2 tests
Childhood onset GLUT1 deficiency syndrome 22 tests
CHIME syndrome1 test
Cholestanol storage disease2 tests
Chorea-acanthocytosis1 test
Christianson syndrome3 tests
Chronic mucocutaneous candidiasis1 test
Chédiak-Higashi syndrome1 test
Citrullinemia type I1 test
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
Classic Hodgkin lymphoma1 test
Cleidocranial dysostosis1 test
Coats plus syndrome2 tests
Cobblestone lissencephaly without muscular or ocular involvement1 test
Cockayne syndrome1 test
Coenzyme Q10 deficiency1 test
Coenzyme Q10 deficiency, primary, 11 test
Coffin-Siris syndrome1 test
Coffin-Siris syndrome 12 tests
Coffin-Siris syndrome 51 test
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome2 tests
Cognitive impairment with or without cerebellar ataxia1 test
Cohen syndrome1 test
Cohen-Gibson syndrome1 test
Cole-Carpenter syndrome 21 test
Collagen IV-related nephropathies1 test
Colorectal cancer4 tests
Colorectal cancer, hereditary nonpolyposis, type 61 test
Colorectal cancer, susceptibility to, 121 test
Combined immunodeficiency1 test
Combined immunodeficiency due to LRBA deficiency2 tests
Combined oxidative phosphorylation defect type 141 test
Combined oxidative phosphorylation deficiency1 test
Combined pituitary hormone deficiencies, genetic form1 test
Common variable immunodeficiency1 test
Complete trisomy 21 syndrome2 tests
Complex cortical dysplasia with other brain malformations1 test
Complex cortical dysplasia with other brain malformations 11 test
Complex cortical dysplasia with other brain malformations 21 test
Complex cortical dysplasia with other brain malformations 41 test
Complex cortical dysplasia with other brain malformations 62 tests
Compton-North congenital myopathy3 tests
Congenital adrenal hyperplasia2 tests
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency1 test
Congenital adrenal hypoplasia, X-linked1 test
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency2 tests
Congenital amegakaryocytic thrombocytopenia3 tests
Congenital bile acid synthesis defect 31 test
Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
Congenital cerebellar hypoplasia1 test
Congenital contractural arachnodactyly1 test
Congenital contractures of the limbs and face, hypotonia, and developmental delay2 tests
Congenital defect of folate absorption1 test
Congenital disorder of glycosylation5 tests
Congenital disorder of glycosylation type 1E2 tests
Congenital dyserythropoietic anemia, type II1 test
Congenital generalized lipodystrophy type 13 tests
Congenital generalized lipodystrophy type 24 tests
Congenital generalized lipodystrophy type 34 tests
Congenital generalized lipodystrophy type 42 tests
Congenital hyperammonemia, type I1 test
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome1 test
Congenital multicore myopathy with external ophthalmoplegia3 tests
Congenital muscular dystrophy due to integrin alpha-7 deficiency2 tests
Congenital muscular dystrophy due to LMNA mutation2 tests
Congenital muscular dystrophy with intellectual disability and severe epilepsy2 tests
Congenital myasthenic syndrome3 tests
Congenital myasthenic syndrome 102 tests
Congenital myasthenic syndrome 123 tests
Congenital myasthenic syndrome 133 tests
Congenital myasthenic syndrome 143 tests
Congenital myasthenic syndrome 151 test
Congenital myasthenic syndrome 163 tests
Congenital myasthenic syndrome 181 test
Congenital myasthenic syndrome 192 tests
Congenital myasthenic syndrome 4A2 tests
Congenital myasthenic syndrome 4C3 tests
Congenital myasthenic syndrome 53 tests
Congenital myasthenic syndrome 72 tests
Congenital myasthenic syndrome 82 tests
Congenital myopathy3 tests
Congenital myopathy 233 tests
Congenital myopathy 4B, autosomal recessive1 test
Congenital myopathy with fiber type disproportion2 tests
Congenital myopathy with internal nuclei and atypical cores3 tests
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome1 test
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A1 test
Cortical dysplasia-focal epilepsy syndrome1 test
Cowden syndrome5 tests
Cranioectodermal dysplasia1 test
Cranioectodermal dysplasia 41 test
Craniofrontonasal syndrome3 tests
Craniosynostosis 62 tests
Craniosynostosis and dental anomalies1 test
Craniosynostosis syndrome1 test
Crigler-Najjar syndrome1 test
Cryptophthalmos syndrome1 test
Currarino triad1 test
Curry-Hall syndrome1 test
Cutis laxa1 test
Cyclical neutropenia1 test
Cystic leukoencephalopathy without megalencephaly1 test
Cytochrome c oxidase I deficiency1 test
D-2-hydroxyglutaric aciduria1 test
D-2-hydroxyglutaric aciduria 21 test
Dandy-Walker syndrome1 test
Danon disease2 tests
DDX41-related hematologic malignancy predisposition syndrome1 test
De Lange syndrome2 tests
Deafness dystonia syndrome1 test
Deficiency of aromatic-L-amino-acid decarboxylase1 test
Deficiency of ferroxidase1 test
Deficiency of steroid 11-beta-monooxygenase1 test
Deficiency of steroid 17-alpha-monooxygenase2 tests
Dentatorubral-pallidoluysian atrophy1 test
Desmin-related myofibrillar myopathy2 tests
Desmosterolosis1 test
Developmental and epileptic encephalopathy 943 tests
Developmental and epileptic encephalopathy, 11 test
Developmental and epileptic encephalopathy, 112 tests
Developmental and epileptic encephalopathy, 122 tests
Developmental and epileptic encephalopathy, 132 tests
Developmental and epileptic encephalopathy, 142 tests
Developmental and epileptic encephalopathy, 152 tests
Developmental and epileptic encephalopathy, 163 tests
Developmental and epileptic encephalopathy, 171 test
Developmental and epileptic encephalopathy, 182 tests
Developmental and epileptic encephalopathy, 192 tests
Developmental and epileptic encephalopathy, 23 tests
Developmental and epileptic encephalopathy, 212 tests
Developmental and epileptic encephalopathy, 242 tests
Developmental and epileptic encephalopathy, 252 tests
Developmental and epileptic encephalopathy, 262 tests
Developmental and epileptic encephalopathy, 272 tests
Developmental and epileptic encephalopathy, 283 tests
Developmental and epileptic encephalopathy, 291 test
Developmental and epileptic encephalopathy, 312 tests
Developmental and epileptic encephalopathy, 322 tests
Developmental and epileptic encephalopathy, 42 tests
Developmental and epileptic encephalopathy, 441 test
Developmental and epileptic encephalopathy, 52 tests
Developmental and epileptic encephalopathy, 511 test
Developmental and epileptic encephalopathy, 72 tests
Developmental and epileptic encephalopathy, 82 tests
Developmental and epileptic encephalopathy, 93 tests
Developmental delay with autism spectrum disorder and gait instability2 tests
Developmental delay with short stature, dysmorphic facial features, and sparse hair1 test
Developmental delay with variable intellectual impairment and behavioral abnormalities1 test
Diabetes mellitus2 tests
Diabetes mellitus, transient neonatal, 11 test
Diamond-Blackfan anemia3 tests
Diamond-Blackfan anemia 11 test
Diamond-Blackfan anemia 101 test
Diamond-Blackfan anemia 112 tests
Diamond-Blackfan anemia 122 tests
Diamond-Blackfan anemia 31 test
Diamond-Blackfan anemia 51 test
Diamond-Blackfan anemia 61 test
Diamond-Blackfan anemia 71 test
Diamond-Blackfan anemia 82 tests
Diamond-Blackfan anemia 91 test
DICER1-related tumor predisposition1 test
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1 test
DiGeorge syndrome1 test
Dihydropteridine reductase deficiency1 test
Dilated cardiomyopathy 1A2 tests
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
Distal arthrogryposis1 test
Distal arthrogryposis type 2B11 test
Distal arthrogryposis type 5D1 test
DNA ligase IV deficiency3 tests
Donnai-Barrow syndrome1 test
DOORS syndrome2 tests
Dopa-responsive dystonia1 test
DPM3-congenital disorder of glycosylation2 tests
Drash syndrome3 tests
DYRK1A-related intellectual disability syndrome4 tests
Dyskeratosis congenita5 tests
Dyskeratosis congenita, autosomal dominant 63 tests
Dyskeratosis congenita, autosomal recessive 11 test
Dyskeratosis congenita, autosomal recessive 52 tests
Dyskinesia with orofacial involvement, autosomal dominant1 test
Dyssynergia1 test
Dystonia 161 test
Dystonia 241 test
Dystonia 251 test
Dystonia 28, childhood-onset1 test
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities2 tests
Dystonic disorder3 tests
Early infantile epileptic encephalopathy with suppression bursts4 tests
Early myoclonic encephalopathy2 tests
Early-onset Lafora body disease1 test
Early-onset myopathy with fatal cardiomyopathy1 test
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome1 test
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome1 test
EAST syndrome1 test
Ehlers-Danlos syndrome3 tests
Ehlers-Danlos syndrome, kyphoscoliotic type, 22 tests
Ehlers-Danlos syndrome, musculocontractural type3 tests
Eichsfeld type congenital muscular dystrophy2 tests
Emery-Dreifuss muscular dystrophy2 tests
Emery-Dreifuss muscular dystrophy 2, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive2 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 5, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 7, autosomal dominant2 tests
Encephalopathy due to GLUT1 deficiency3 tests
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 11 test
Encephalopathy, progressive, with amyotrophy and optic atrophy1 test
Endocrine-cerebro-osteodysplasia syndrome1 test
Epilepsy2 tests
Epilepsy, childhood absence, susceptibility to, 52 tests
Epilepsy, progressive myoclonic, 2b1 test
Ethylmalonic encephalopathy3 tests
Exercise-induced hyperinsulinism1 test
Exudative vitreoretinopathy 71 test
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome1 test
Familial adenomatous polyposis 12 tests
Familial adenomatous polyposis 23 tests
Familial aplasia of the vermis5 tests
Familial cancer of breast5 tests
Familial hemiplegic migraine1 test
Familial hemophagocytic lymphohistiocytosis1 test
Familial hemophagocytic lymphohistiocytosis 51 test
Familial hyperinsulinism2 tests
Familial hypocalciuric hypercalcemia 11 test
Familial hypocalciuric hypercalcemia 21 test
Familial hypoparathyroidism1 test
Familial infantile myasthenia1 test
Familial infantile myoclonic epilepsy3 tests
Familial isolated deficiency of vitamin E1 test
Familial juvenile hyperuricemic nephropathy type 11 test
Familial melanoma2 tests
Familial multiple polyposis syndrome3 tests
Familial partial lipodystrophy3 tests
Familial partial lipodystrophy, Dunnigan type3 tests
Familial partial lipodystrophy, Kobberling type3 tests
Familial thoracic aortic aneurysm and aortic dissection1 test
Fanconi anemia3 tests
Fanconi anemia complementation group A1 test
Fanconi anemia complementation group B1 test
Fanconi anemia complementation group C1 test
Fanconi anemia complementation group D11 test
Fanconi anemia complementation group D21 test
Fanconi anemia complementation group E1 test
Fanconi anemia complementation group F1 test
Fanconi anemia complementation group G1 test
Fanconi anemia complementation group I1 test
Fanconi anemia complementation group J2 tests
Fanconi anemia complementation group L1 test
Fanconi anemia complementation group N4 tests
Fanconi anemia complementation group O3 tests
Fanconi anemia complementation group P1 test
Fanconi anemia complementation group Q1 test
Fanconi anemia complementation group R2 tests
Fanconi anemia complementation group T2 tests
Fanconi anemia complementation group U1 test
Fanconi anemia, complementation group S1 test
Feingold syndrome1 test
FG syndrome 13 tests
FG syndrome 21 test
Floating-Harbor syndrome1 test
Focal segmental glomerulosclerosis1 test
Fragile X-associated tremor/ataxia syndrome2 tests
Freeman-Sheldon syndrome1 test
Friedreich ataxia2 tests
Friedreich ataxia 11 test
Friedreich ataxia 21 test
Frontometaphyseal dysplasia1 test
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1 test
Frontonasal dysplasia with alopecia and genital anomaly1 test
Frontorhiny2 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 22 tests
Fucosidosis1 test
Fumarase deficiency1 test
Galactosialidosis, adult1 test
Galactosylceramide beta-galactosidase deficiency1 test
Galloway-Mowat syndrome 11 test
Gamma-glutamylcysteine synthetase deficiency1 test
Gastrointestinal stromal tumor1 test
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis3 tests
Gaucher disease due to saposin C deficiency1 test
Generalized epilepsy with febrile seizures plus, type 23 tests
Generalized epilepsy-paroxysmal dyskinesia syndrome1 test
Generalized juvenile polyposis/juvenile polyposis coli3 tests
Giant axonal neuropathy 11 test
Gilbert syndrome1 test
Glanzmann thrombasthenia1 test
Glioma susceptibility 95 tests
Glucocorticoid deficiency with achalasia1 test
Glutaric aciduria, type 11 test
Glutathione synthetase deficiency without 5-oxoprolinuria1 test
Glycogen storage disease2 tests
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
Glycogen storage disease, type II2 tests
Glycogen storage disease, type IV1 test
Glycogen storage disease, type V2 tests
GM1 gangliosidosis1 test
GM1 gangliosidosis type 31 test
GM2-gangliosidosis, B, B1, AB variant1 test
GM3 synthase deficiency2 tests
GNE myopathy2 tests
Goldberg-Shprintzen syndrome2 tests
Gray platelet syndrome1 test
Greig cephalopolysyndactyly syndrome2 tests
Griscelli syndrome type 11 test
Griscelli syndrome type 21 test
Griscelli syndrome type 31 test
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
Hand-foot-genital syndrome1 test
Hecht syndrome1 test
Hemolytic anemia1 test
Hemolytic anemia due to glucophosphate isomerase deficiency1 test
Hemolytic-uremic syndrome1 test
Hereditary acrodermatitis enteropathica1 test
Hereditary amyloidosis1 test
Hereditary breast ovarian cancer syndrome9 tests
Hereditary diffuse gastric adenocarcinoma3 tests
Hereditary diffuse leukoencephalopathy with spheroids1 test
Hereditary episodic ataxia1 test
Hereditary hemorrhagic telangiectasia1 test
Hereditary hyperferritinemia with congenital cataracts1 test
Hereditary nonpolyposis colon cancer7 tests
Hereditary pheochromocytoma-paraganglioma2 tests
Hereditary sideroblastic anemia2 tests
Hereditary spastic paraplegia1 test
Hereditary spastic paraplegia 171 test
Hereditary spastic paraplegia 261 test
Hereditary spastic paraplegia 351 test
Hereditary spastic paraplegia 561 test
Hereditary spastic paraplegia 571 test
Hereditary spastic paraplegia 621 test
Hereditary spastic paraplegia 751 test
Hereditary spastic paraplegia 771 test
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11 test
Hermansky-Pudlak syndrome1 test
Heterotopia, periventricular, X-linked dominant1 test
Hogue-Janssens syndrome 11 test
Holocarboxylase synthetase deficiency1 test
Holoprosencephaly sequence1 test
Homocystinuria1 test
Hoyeraal-Hreidarsson syndrome1 test
Hydrocephalus1 test
Hydrolethalus syndrome 21 test
Hyper-IgE recurrent infection syndrome 3, autosomal recessive1 test
Hyperinsulinemic hypoglycemia, familial, 11 test
Hyperinsulinemic hypoglycemia, familial, 21 test
Hyperinsulinemic hypoglycemia, familial, 41 test
Hyperinsulinism due to glucokinase deficiency2 tests
Hyperinsulinism due to INSR deficiency1 test
Hyperinsulinism-hyperammonemia syndrome1 test
Hyperkalemic periodic paralysis1 test
Hypermanganesemia with dystonia 21 test
Hypermanganesemia with dystonia, polycythemia, and cirrhosis1 test
Hyperparathyroidism1 test
Hyperphenylalaninemia due to DNAJC12 deficiency1 test
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency2 tests
Hypertensive disorder1 test
Hypertrichosis cubiti-short stature syndrome1 test
Hypertrophic cardiomyopathy2 tests
Hypertrophic cardiomyopathy 91 test
Hypobetalipoproteinemia1 test
Hypocalcemia1 test
Hypocalcemia, autosomal dominant, with bartter syndrome1 test
Hypoceruloplasminemia2 tests
Hypogonadotropic hypogonadism 1 with or without anosmia2 tests
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 16 with or without anosmia2 tests
Hypogonadotropic hypogonadism 18 with or without anosmia2 tests
Hypogonadotropic hypogonadism 2 with or without anosmia1 test
Hypogonadotropic hypogonadism 20 with or without anosmia1 test
Hypogonadotropic hypogonadism 22 with or without anosmia2 tests
Hypogonadotropic hypogonadism 7 with or without anosmia2 tests
Hypogonadotropic hypogonadism 8 with or without anosmia2 tests
Hypogonadotropic hypogonadism 9 with or without anosmia2 tests
Hypoinsulinemic hypoglycemia and body hemihypertrophy3 tests
Hypoparathyroidism1 test
Hypoparathyroidism-retardation-dysmorphism syndrome1 test
Hypophosphatemic rickets2 tests
Hypospadias 2, X-linked1 test
Hypothyroidism, congenital, nongoitrous, 21 test
Hypotonia1 test
Hypotonia, ataxia, and delayed development syndrome1 test
Idiopathic basal ganglia calcification 11 test
IMAGe syndrome2 tests
Immunodeficiency 11b with atopic dermatitis1 test
Immunodeficiency 141 test
Immunodeficiency 231 test
Immunodeficiency, common variable, 21 test
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia2 tests
Infantile bilateral striatal necrosis2 tests
Infantile cerebellar-retinal degeneration1 test
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly1 test
Infantile convulsions and choreoathetosis1 test
Infantile neuroaxonal dystrophy2 tests
Infantile onset spinocerebellar ataxia1 test
Infantile-onset ascending hereditary spastic paralysis2 tests
Inherited bone marrow failure syndrome1 test
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
Intellectual developmental disorder with autism and macrocephaly1 test
Intellectual disability1 test
Intellectual disability, autosomal dominant 12 tests
Intellectual disability, autosomal dominant 132 tests
Intellectual disability, autosomal dominant 201 test
Intellectual disability, autosomal dominant 271 test
Intellectual disability, autosomal dominant 401 test
Intellectual disability, autosomal dominant 421 test
Intellectual disability, autosomal dominant 431 test
Intellectual disability, autosomal dominant 52 tests
Intellectual disability, autosomal recessive 132 tests
Intellectual disability, autosomal recessive 341 test
Intellectual disability, autosomal recessive 432 tests
Intellectual disability, autosomal recessive 461 test
Intellectual disability, autosomal recessive 531 test
Intellectual disability, CASK-related, X-linked2 tests
Intellectual disability, profound4 tests
Intellectual disability, X-linked, syndromic, 352 tests
Intellectual disability, X-linked, syndromic, Bain type1 test
Intellectual disability, X-linked, with or without seizures, arx-related1 test
Interstitial lung disease 22 tests
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked1 test
Irinotecan response1 test
Johanson-Blizzard syndrome2 tests
Joubert syndrome 11 test
Joubert syndrome 102 tests
Joubert syndrome 131 test
Joubert syndrome 141 test
Joubert syndrome 152 tests
Joubert syndrome 161 test
Joubert syndrome 171 test
Joubert syndrome 183 tests
Joubert syndrome 21 test
Joubert syndrome 201 test
Joubert syndrome 212 tests
Joubert syndrome 221 test
Joubert syndrome 231 test
Joubert syndrome 31 test
Joubert syndrome 51 test
Joubert syndrome 61 test
Joubert syndrome 71 test
Joubert syndrome 81 test
Joubert syndrome 91 test
Joubert syndrome with renal defect1 test
Juberg-Marsidi syndrome1 test
Juvenile (Subacute) Hexosaminidase A Deficiency1 test
Juvenile myelomonocytic leukemia1 test
Juvenile myoclonic epilepsy2 tests
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome2 tests
Kabuki syndrome2 tests
Kabuki syndrome 11 test
KBG syndrome2 tests
Keppen-Lubinsky syndrome3 tests
Kleefstra syndrome 11 test
Knobloch syndrome1 test
Kufor-Rakeb syndrome3 tests
L-2-hydroxyglutaric aciduria3 tests
Landau-Kleffner syndrome2 tests
Leigh syndrome2 tests
LEOPARD syndrome 11 test
Lesch-Nyhan syndrome1 test
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome2 tests
Lethal osteosclerotic bone dysplasia1 test
Leukemia, acute lymphoblastic, susceptibility to1 test
Leukemia, acute lymphoblastic, susceptibility to, 31 test
Leukodystrophy2 tests
Leukoencephalopathy1 test
Leukoencephalopathy with mild cerebellar ataxia and white matter edema1 test
Leukoencephalopathy, progressive, with ovarian failure2 tests
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome1 test
Leydig cell agenesis2 tests
Leydig cell hypoplasia, type II1 test
Li-Fraumeni syndrome8 tests
Li-Fraumeni syndrome 21 test
Li-fraumeni-like syndrome1 test
Lichtenstein-Knorr syndrome1 test
Limb-girdle muscular dystrophy3 tests
Limb-girdle muscular dystrophy due to POMK deficiency2 tests
Linear skin defects with multiple congenital anomalies 13 tests
LIPE-related familial partial lipodystrophy2 tests
Lipoyl transferase 1 deficiency1 test
Lissencephaly2 tests
Lissencephaly 42 tests
Lissencephaly 6 with microcephaly2 tests
Lissencephaly 7 with cerebellar hypoplasia1 test
Lissencephaly 81 test
Loeys-Dietz syndrome 21 test
Luscan-Lumish syndrome1 test
Lymphoma1 test
Lymphoma, non-Hodgkin, familial1 test
Lymphoproliferative syndrome 11 test
Lymphoproliferative syndrome 21 test
Macrocephaly1 test
Macrocephaly and epileptic encephalopathy1 test
Macrocephaly, dysmorphic facies, and psychomotor retardation1 test
Macrocephaly, macrosomia, facial dysmorphism syndrome1 test
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Macrothrombocytopenia, isolated, 1, autosomal dominant1 test
Malan overgrowth syndrome1 test
Malignant hyperthermia of anesthesia1 test
Malignant hyperthermia, susceptibility to, 12 tests
Malignant tumor of esophagus1 test
Malignant tumor of thyroid gland1 test
Mandibular hypoplasia-deafness-progeroid syndrome3 tests
Mandibuloacral dysplasia with type B lipodystrophy3 tests
Mandibulofacial dysostosis-microcephaly syndrome2 tests
Maple syrup urine disease1 test
Marinesco-Sjögren syndrome3 tests
Marshall-Smith syndrome1 test
Mast syndrome2 tests
Maturity onset diabetes mellitus in young2 tests
Maturity-onset diabetes of the young type 11 test
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 22 tests
Maturity-onset diabetes of the young type 31 test
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
McKusick-Kaufman syndrome1 test
McLeod neuroacanthocytosis syndrome1 test
Meckel syndrome, type 12 tests
Meckel syndrome, type 102 tests
Meckel syndrome, type 111 test
Meckel syndrome, type 21 test
Meckel syndrome, type 31 test
Meckel syndrome, type 42 tests
Meckel syndrome, type 52 tests
Meckel syndrome, type 62 tests
Meckel syndrome, type 82 tests
Meckel syndrome, type 92 tests
Meckel-Gruber syndrome4 tests
Megaconial type congenital muscular dystrophy3 tests
Megalencephalic leukoencephalopathy with subcortical cysts3 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
MEGF10-related myopathy2 tests
MEHMO syndrome1 test
Meier-Gorlin syndrome2 tests
Meier-Gorlin syndrome 21 test
Meier-Gorlin syndrome 31 test
Meier-Gorlin syndrome 41 test
Meier-Gorlin syndrome 51 test
Meier-Gorlin syndrome 71 test
Melanoma2 tests
Melnick-Needles syndrome1 test
Menkes kinky-hair syndrome1 test
Merosin deficient congenital muscular dystrophy3 tests
MERRF syndrome1 test
Metachromatic leukodystrophy2 tests
Metaphyseal chondrodysplasia, Jansen type1 test
Methemoglobinemia type 42 tests
Methylmalonic acidemia1 test
Mevalonic aciduria1 test
Microcephalic osteodysplastic primordial dwarfism type II2 tests
Microcephalic primordial dwarfism due to RTTN deficiency1 test
Microcephalic primordial dwarfism due to ZNF335 deficiency1 test
Microcephalic primordial dwarfism, Alazami type1 test
Microcephaly 1, primary, autosomal recessive1 test
Microcephaly 13, primary, autosomal recessive1 test
Microcephaly 14, primary, autosomal recessive1 test
Microcephaly 15, primary, autosomal recessive1 test
Microcephaly 17, primary, autosomal recessive2 tests
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations2 tests
Microcephaly 3, primary, autosomal recessive1 test
Microcephaly 4, primary, autosomal recessive1 test
Microcephaly 5, primary, autosomal recessive2 tests
Microcephaly 6, primary, autosomal recessive1 test
Microcephaly 7, primary, autosomal recessive2 tests
Microcephaly 8, primary, autosomal recessive1 test
Microcephaly 9, primary, autosomal recessive1 test
Microcephaly and chorioretinopathy 11 test
Microcephaly and chorioretinopathy 22 tests
Microcephaly and chorioretinopathy 31 test
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1 test
Microcephaly with Polymicrogyria1 test
Microcephaly, epilepsy, and diabetes syndrome1 test
Microcephaly, normal intelligence and immunodeficiency1 test
Microcephaly, seizures, and developmental delay4 tests
Microcephaly, short stature, and impaired glucose metabolism 13 tests
Microcephaly, short stature, and impaired glucose metabolism 22 tests
Microcephaly-capillary malformation syndrome1 test
Microphthalmia with brain and digit anomalies1 test
Miller syndrome1 test
MIRAGE syndrome4 tests
Mismatch repair cancer syndrome 14 tests
Mitochondrial complex I deficiency1 test
Mitochondrial complex II deficiency, nuclear type 11 test
Mitochondrial complex III deficiency1 test
Mitochondrial disease2 tests
Mitochondrial DNA depletion syndrome 11 test
Mitochondrial DNA depletion syndrome 131 test
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 8B (MNGIE type)1 test
Mitochondrial DNA depletion syndrome 91 test
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency1 test
Mitochondrial trifunctional protein deficiency1 test
Monogenic Non-Syndromic Obesity, Autosomal Recessive1 test
Motor developmental delay due to 14q32.2 paternally expressed gene defect1 test
Mowat-Wilson syndrome4 tests
Muir-Torré syndrome4 tests
Mullerian aplasia and hyperandrogenism2 tests
Multiminicore myopathy2 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 21 test
Multiple endocrine neoplasia type 2A1 test
Multiple endocrine neoplasia type 41 test
Multiple endocrine neoplasia, type 13 tests
Multiple endocrine neoplasia, type 23 tests
Multiple self-healing squamous epithelioma1 test
Multiple sulfatase deficiency1 test
Muscular dystrophy-dystroglycanopathy3 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 102 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 113 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 123 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 73 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A133 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A142 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A23 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A62 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A93 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B12 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B143 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 B52 tests
Muscular dystrophy-dystroglycanopathy type B62 tests
Myasthenia, limb-girdle, autoimmune1 test
Myasthenic syndrome, congenital, 1B, fast-channel1 test
Myasthenic syndrome, slow-channel congenital1 test
Myelodysplasia2 tests
Myelodysplastic syndrome4 tests
MYH7-related skeletal myopathy2 tests
Myoclonic dystonia 261 test
Myoclonic-astatic epilepsy1 test
Myoclonus, familial, 11 test
Myofibrillar myopathy2 tests
Myofibrillar myopathy 22 tests
Myofibrillar myopathy 32 tests
Myofibrillar myopathy 42 tests
Myofibrillar myopathy 52 tests
Myofibrillar myopathy 62 tests
Myofibrillar myopathy 71 test
Myopathy, centronuclear, 21 test
Myopathy, centronuclear, 52 tests
Myopathy, congenital, with excess of muscle spindles3 tests
Myopathy, congenital, with fiber-type disproportion, X-linked1 test
Myopathy, myofibrillar, 9, with early respiratory failure3 tests
Myopathy, proximal, and ophthalmoplegia2 tests
Myopathy, tubular aggregate, 22 tests
Myosin storage myopathy1 test
N-acetylaspartate deficiency1 test
Nager syndrome1 test
Nemaline myopathy2 tests
Nemaline myopathy 103 tests
Nemaline myopathy 23 tests
Nemaline myopathy 51 test
Nemaline myopathy 63 tests
Nemaline myopathy 73 tests
Nemaline myopathy 81 test
Nemaline myopathy 91 test
Neonatal diabetes mellitus3 tests
Neonatal diabetes mellitus with congenital hypothyroidism1 test
Neonatal-onset encephalopathy with rigidity and seizures1 test
Nephronophthisis4 tests
Nephronophthisis 121 test
Nephronophthisis 141 test
Nephronophthisis 151 test
Nephronophthisis 161 test
Nephronophthisis 181 test
Nephronophthisis 191 test
Nephrotic syndrome2 tests
Neu-Laxova syndrome 11 test
Neuroblastoma1 test
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1 test
Neurodegeneration with brain iron accumulation3 tests
Neurodegeneration with brain iron accumulation 41 test
Neurodegeneration with brain iron accumulation 52 tests
Neuroferritinopathy1 test
Neurofibromatosis, type 11 test
Neurofibromatosis, type 21 test
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset1 test
Neuromuscular disease, congenital, with uniform type 1 fiber1 test
Neuronal ceroid lipofuscinosis2 tests
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 111 test
Neuronal ceroid lipofuscinosis 131 test
Neuronal ceroid lipofuscinosis 21 test
Neuronal ceroid lipofuscinosis 31 test
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 71 test
Neuronal ceroid lipofuscinosis 81 test
Neuropathy, congenital hypomyelinating, autosomal dominant1 test
Neuropathy, hereditary motor and sensory, type 6B1 test
Neutral 1 amino acid transport defect1 test
Nicolaides-Baraitser syndrome2 tests
Non-syndromic X-linked intellectual disability1 test
Nonimmune chronic idiopathic neutropenia of adults1 test
Noonan syndrome1 test
Noonan syndrome 11 test
Noonan syndrome-like disorder with loose anagen hair 21 test
Norman-Roberts syndrome1 test
NPHP3-related Meckel-like syndrome1 test
Obesity2 tests
Obesity due to congenital leptin deficiency1 test
Obesity due to leptin receptor gene deficiency1 test
Obesity due to pro-opiomelanocortin deficiency1 test
Obesity, hyperphagia, and developmental delay1 test
Ocular albinism, type I1 test
Oculocutaneous albinism1 test
Oculocutaneous albinism type 72 tests
Oculodentodigital dysplasia2 tests
Oculofaciocardiodental syndrome1 test
Optic atrophy1 test
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1 test
Optic atrophy 111 test
Ornithine carbamoyltransferase deficiency1 test
Orofacial-digital syndrome IV1 test
Orofaciodigital syndrome I2 tests
Osteocraniostenosis1 test
Osteodysplastic primordial dwarfism, type 11 test
Oto-palato-digital syndrome, type I1 test
Oto-palato-digital syndrome, type II1 test
Ovarian cancer3 tests
Ovarian dysgenesis 12 tests
Ovarian dysgenesis 22 tests
Ovarian dysgenesis 33 tests
Palmoplantar hyperkeratosis and true hermaphroditism1 test
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome2 tests
Pancreatic agenesis 11 test
Pancytopenia due to IKZF1 mutations4 tests
Paragangliomas 12 tests
Paragangliomas 22 tests
Paragangliomas 32 tests
Paragangliomas 42 tests
Paragangliomas 51 test
Paris-Trousseau thrombocytopenia1 test
Parkinson disease1 test
Parkinsonism-dystonia, infantile1 test
Paroxysmal nonkinesigenic dyskinesia2 tests
Partial adenosine deaminase deficiency1 test
Partial androgen insensitivity syndrome2 tests
Paternal uniparental disomy of chromosome 141 test
PCWH syndrome1 test
Pelizaeus-Merzbacher disease2 tests
Pelviscapular dysplasia1 test
Pendred syndrome1 test
Periventricular heterotopia with microcephaly, autosomal recessive3 tests
Peroxisome biogenesis disorder1 test
Perrault syndrome 11 test
Perrault syndrome 31 test
Persistent Mullerian duct syndrome1 test
Peters plus syndrome3 tests
Pettigrew syndrome1 test
Peutz-Jeghers syndrome5 tests
PHARC syndrome1 test
Pheochromocytoma2 tests
Phosphoribosylpyrophosphate synthetase superactivity1 test
Pitt-Hopkins syndrome4 tests
Pitt-Hopkins-like syndrome 21 test
Platelet-type bleeding disorder 151 test
Platelet-type bleeding disorder 161 test
Platelet-type bleeding disorder 171 test
Platelet-type bleeding disorder 191 test
Platelet-type bleeding disorder 201 test
Poikiloderma with neutropenia2 tests
Polycystic kidney disease 21 test
Polycystic kidney disease 3 with or without polycystic liver disease1 test
Polycystic kidney disease, adult type1 test
Polyendocrine-polyneuropathy syndrome1 test
Polyposis syndrome, hereditary mixed, 11 test
Pontocerebellar hypoplasia type 21 test
Pontoneocerebellar hypoplasia1 test
Popliteal pterygium syndrome1 test
Posterior column ataxia-retinitis pigmentosa syndrome1 test
PPARG-related familial partial lipodystrophy3 tests
Prader-Willi syndrome4 tests
Premature ovarian failure2 tests
Premature ovarian failure 32 tests
Premature ovarian failure 52 tests
Premature ovarian failure 62 tests
Premature ovarian failure 72 tests
Premature ovarian failure 92 tests
Primary Familial Brain Calcification 51 test
Primrose syndrome2 tests
Progeroid and marfanoid aspect-lipodystrophy syndrome3 tests
Progressive external ophthalmoplegia3 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 21 test
Progressive myoclonic epilepsy1 test
Progressive myoclonic epilepsy type 31 test
Progressive myoclonic epilepsy type 51 test
Progressive myoclonic epilepsy type 61 test
Progressive myoclonic epilepsy type 71 test
Progressive myoclonic epilepsy type 91 test
Proximal myopathy with extrapyramidal signs1 test
Pseudohypoparathyroidism2 tests
Pseudohypoparathyroidism type 1B1 test
Pseudohypoparathyroidism type 1C1 test
Pseudopseudohypoparathyroidism2 tests
PTEN hamartoma tumor syndrome4 tests
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency1 test
Pulmonary fibrosis and/or bone marrow failure, telomere-related1 test
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 42 tests
Pure gonadal dysgenesis 46,XY1 test
Purine-nucleoside phosphorylase deficiency1 test
Pyridoxine-dependent epilepsy2 tests
Pyruvate dehydrogenase complex deficiency2 tests
Qualitative or quantitative defects of dystrophin2 tests
Radial aplasia-thrombocytopenia syndrome2 tests
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome1 test
RASopathy1 test
Refsum disease, adult, 11 test
Renal dysplasia and retinal aplasia1 test
Renal tubular dysgenesis1 test
Renpenning syndrome1 test
Retinitis pigmentosa 711 test
Rett syndrome5 tests
Rett syndrome, congenital variant3 tests
Rhabdoid tumor predisposition syndrome 21 test
Rhizomelic chondrodysplasia punctata type 11 test
Rhizomelic chondrodysplasia punctata type 21 test
Rhizomelic chondrodysplasia punctata type 31 test
Riboflavin transporter deficiency1 test
RIDDLE syndrome1 test
RIN2 syndrome1 test
Rippling muscle disease 22 tests
Roberts-SC phocomelia syndrome3 tests
Robinow syndrome1 test
Rubinstein-Taybi syndrome2 tests
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1 test
Saldino-Mainzer syndrome1 test
Salla disease1 test
Sandhoff disease1 test
Sarcotubular myopathy2 tests
Schaaf-Yang syndrome2 tests
Schinzel phocomelia syndrome1 test
Schinzel-Giedion syndrome2 tests
Sclerosteosis 21 test
Seckel syndrome2 tests
Seckel syndrome 21 test
Seckel syndrome 42 tests
Seckel syndrome 52 tests
Seckel syndrome 61 test
Seckel syndrome 71 test
Seckel syndrome 81 test
Seizures, benign familial infantile, 31 test
Seizures, benign familial infantile, 51 test
Seizures, benign familial neonatal, 31 test
Senior-Loken syndrome 81 test
Sensorineural deafness with mild renal dysfunction1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1 test
Severe congenital neutropenia3 tests
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1 test
Severe intellectual disability-progressive spastic diplegia syndrome1 test
Severe myoclonic epilepsy in infancy1 test
Severe neurodegenerative syndrome with lipodystrophy1 test
Severe X-linked myotubular myopathy3 tests
Shashi-Pena syndrome1 test
Short stature with microcephaly and distinctive facies2 tests
Short stature, microcephaly, and endocrine dysfunction1 test
Short stature-brachydactyly-obesity-global developmental delay syndrome1 test
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome1 test
SHORT syndrome4 tests
Short-rib thoracic dysplasia 10 with or without polydactyly1 test
Short-rib thoracic dysplasia 14 with polydactyly1 test
Short-rib thoracic dysplasia 6 with or without polydactyly1 test
Short-rib thoracic dysplasia 8 with or without polydactyly1 test
Shprintzen-Goldberg syndrome1 test
Shwachman syndrome2 tests
Sialidosis type 11 test
Sifrim-Hitz-Weiss syndrome1 test
Silver-Russell syndrome 11 test
Simpson-Golabi-Behmel syndrome type 11 test
Simpson-Golabi-Behmel syndrome type 21 test
Sitosterolemia1 test
Smith-Lemli-Opitz syndrome2 tests
Sotos syndrome2 tests
Spastic ataxia2 tests
Spastic ataxia 51 test
Spastic paraplegia2 tests
Spastic paraplegia, intellectual disability, nystagmus, and obesity3 tests
Spastic paraplegia-severe developmental delay-epilepsy syndrome2 tests
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome3 tests
Sphingomyelin/cholesterol lipidosis2 tests
Spinocerebellar ataxia 431 test
Spinocerebellar ataxia 71 test
Spinocerebellar ataxia type 12 tests
Spinocerebellar ataxia type 101 test
Spinocerebellar ataxia type 111 test
Spinocerebellar ataxia type 121 test
Spinocerebellar ataxia type 131 test
Spinocerebellar ataxia type 141 test
Spinocerebellar ataxia type 15/161 test
Spinocerebellar ataxia type 171 test
Spinocerebellar ataxia type 19/221 test
Spinocerebellar ataxia type 21 test
Spinocerebellar ataxia type 211 test
Spinocerebellar ataxia type 231 test
Spinocerebellar ataxia type 261 test
Spinocerebellar ataxia type 271 test
Spinocerebellar ataxia type 281 test
Spinocerebellar ataxia type 311 test
Spinocerebellar ataxia type 351 test
Spinocerebellar ataxia type 381 test
Spinocerebellar ataxia type 401 test
Spinocerebellar ataxia type 411 test
Spinocerebellar ataxia type 421 test
Spinocerebellar ataxia type 51 test
Spinocerebellar ataxia type 61 test
Spinocerebellar ataxia type 81 test
Spinocerebellar ataxia, autosomal recessive 221 test
Spinocerebellar ataxia, autosomal recessive 231 test
Spinocerebellar ataxia, autosomal recessive 241 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy1 test
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome3 tests
SRD5A3-congenital disorder of glycosylation1 test
STAT3-related early-onset multisystem autoimmune disease2 tests
Statin-induced myopathy2 tests
Sterol carrier protein 2 deficiency1 test
Striatonigral degeneration, childhood-onset1 test
Stromme syndrome1 test
Subcortical laminar heterotopia, X-linked1 test
Succinate-semialdehyde dehydrogenase deficiency1 test
Sudden infant death-dysgenesis of the testes syndrome1 test
Sulfite oxidase deficiency2 tests
Syndactyly-telecanthus-anogenital and renal malformations syndrome1 test
Syndromic X-linked intellectual disability 341 test
Syndromic X-linked intellectual disability Claes-Jensen type1 test
Syndromic X-linked intellectual disability Najm type4 tests
Tatton-Brown-Rahman overgrowth syndrome1 test
Tay-Sachs disease1 test
TELO2-related intellectual disability-neurodevelopmental disorder1 test
Tenorio syndrome1 test
Terminal osseous dysplasia-pigmentary defects syndrome1 test
Testicular anomalies with or without congenital heart disease2 tests
Testosterone 17-beta-dehydrogenase deficiency2 tests
Thrombocytopenia2 tests
Thrombocytopenia 11 test
Thrombocytopenia 23 tests
Thrombocytopenia 41 test
Thrombocytopenia 52 tests
Thyroid dyshormonogenesis1 test
Thyroid gland carcinoma1 test
Thyroid hormone resistance syndrome1 test
Tibial muscular dystrophy1 test
Torsion dystonia 21 test
Torsion dystonia 41 test
Torsion dystonia 61 test
Townes-Brocks syndrome 11 test
Transcobalamin II deficiency1 test
Transitory neonatal diabetes mellitus1 test
Treacher Collins syndrome1 test
Troyer syndrome2 tests
Tuberous sclerosis syndrome2 tests
Tubulointerstitial kidney disease, autosomal dominant, 21 test
Tumor predisposition syndrome 33 tests
Type 2 diabetes mellitus2 tests
Typical absence seizure2 tests
Ullrich congenital muscular dystrophy 1A2 tests
Upshaw-Schulman syndrome1 test
Urocanate hydratase deficiency1 test
Usher syndrome type 3B1 test
Van den Ende-Gupta syndrome1 test
Van Maldergem syndrome 21 test
Vanishing white matter disease1 test
Vasculitis due to ADA2 deficiency1 test
Vitamin B12-responsive methylmalonic acidemia, type cblDv21 test
Von Hippel-Lindau syndrome3 tests
Von Willebrand disease type 2B1 test
Waardenburg syndrome type 2A1 test
Walker-Warburg congenital muscular dystrophy1 test
Warburg micro syndrome1 test
Warburg micro syndrome 11 test
Warburg micro syndrome 41 test
Warts, hypogammaglobulinemia, infections, and myelokathexis3 tests
Weaver syndrome2 tests
Werner syndrome2 tests
West syndrome2 tests
Wilson disease3 tests
Wiskott-Aldrich syndrome1 test
Wolcott-Rallison dysplasia1 test
Wolfram syndrome2 tests
Wolfram syndrome 21 test
Woodhouse-Sakati syndrome1 test
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia2 tests
X-linked Emery-Dreifuss muscular dystrophy2 tests
X-linked erythropoietic protoporphyria1 test
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia1 test
X-linked intellectual disability1 test
X-linked intellectual disability Cabezas type2 tests
X-linked intellectual disability, Cantagrel type2 tests
X-linked intellectual disability-cerebellar hypoplasia syndrome3 tests
X-linked lissencephaly with abnormal genitalia2 tests
X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
X-linked progressive cerebellar ataxia1 test
X-linked severe congenital neutropenia1 test
X-linked sideroblastic anemia with ataxia1 test
Xeroderma pigmentosum2 tests
Yunis-Varon syndrome1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Prenatal testing
Carrier testing
Mutation Confirmation
Uniparental Disomy (UPD) Testing
Repeat Expansion Testing

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: 14D0671659, Expiration date: 2025-02-27
CAP, Number: 18827-01, Expiration date: 2024-10-02

Licenses

CA - California Department of Public Health CDPH, Number: CDS-90010801, Effective date: 2023-10-16, Expiration date: 2024-10-15
MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 2314, Effective date: 2018-07-01 Non-expiring
PA - Pennsylvania Department of Health PADOH, Number: 40307, Expiration date: 2024-08-15
RI - State of Rhode Island Department of Health RIDOH, Number: LCO01061, Expiration date: 2022-12-30

Participation in external programs

Standardization programs

CETT Program (Collaboration Education and Test Translation)

Data exchange Programs

CETT Program (Collaboration Education and Test Translation)

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.