CENTOGENE GmbH and LLC - Guiding Precision Medicine

Personnel

Director: Peter Bauer, MD, Lab Director
Phone: +49 381 203 652 0
Fax: +49 381 203 652 19
Email: peter.bauer@centogene.com
Department of Customer Support North America, Customer Support North America
Phone: +16175802102
Email: customer.support-us@centogene.com
Customer Support Global, Customer Support Global Team
Phone: +49 381 80 113-416
Email: customer.support@centogene.com
Karin Fajardo, MS, Director Business Development - North America
Phone: +1 857-919-8456
Email: karin.fajardo@centogene.com
Esther Mizrahi, MD, Clinical Genetics Liaison
Email: esther.mizrahi@centogene.com
Eleni Perraki, PhD, Senior Product Manager
Phone: +491626309659
Fax: Germany
Email: eleni.perraki@centogene.com

Conditions and tests

1886 conditions/phenotypes with 1 test
Enter text to narrow down the list

11p partial monosomy syndrome1 test
3 beta-Hydroxysteroid dehydrogenase deficiency1 test
3-hydroxy-3-methylglutaryl-CoA synthase deficiency1 test
3-hydroxyisobutyryl-CoA hydrolase deficiency1 test
3-methylcrotonyl-CoA carboxylase 1 deficiency1 test
3-methylcrotonyl-CoA carboxylase 2 deficiency1 test
3-methylglutaconic aciduria type 11 test
3-Methylglutaconic aciduria type 21 test
3-methylglutaconic aciduria type 51 test
3-methylglutaconic aciduria type 81 test
3-methylglutaconic aciduria type 91 test
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1 test
3M syndrome 11 test
3MC syndrome 11 test
46,XY sex reversal 71 test
5p partial monosomy syndrome1 test
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency1 test
Aarskog syndrome1 test
ABCD syndrome1 test
Abetalipoproteinaemia1 test
Abortive cerebellar ataxia1 test
Acatalasia1 test
Acetyl-CoA: carboxylase deficiency1 test
Achromatopsia 31 test
Acquired hemoglobin H disease1 test
Acrocallosal syndrome1 test
Actin accumulation myopathy1 test
Action myoclonus-renal failure syndrome1 test
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1 test
Acute intermittent porphyria1 test
Acute promyelocytic leukemia1 test
Acyl-CoA dehydrogenase 9 deficiency1 test
Adams-Oliver syndrome 11 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
Adult polyglucosan body disease1 test
Advanced sleep phase syndrome 11 test
Age related macular degeneration 71 test
Agenesis of the corpus callosum with peripheral neuropathy1 test
Agnathia-otocephaly complex1 test
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1 test
AICA-ribosiduria1 test
Aicardi-Goutieres syndrome 21 test
Aicardi-Goutieres syndrome 31 test
Aicardi-Goutieres syndrome 41 test
Aicardi-Goutieres syndrome 51 test
Alacrima, achalasia, and intellectual disability syndrome1 test
Alazami-Yuan syndrome1 test
Alcohol sensitivity, acute1 test
Alexander disease1 test
ALG1-congenital disorder of glycosylation1 test
ALG11-congenital disorder of glycosylation1 test
ALG12-congenital disorder of glycosylation1 test
ALG3-congenital disorder of glycosylation1 test
ALG6-congenital disorder of glycosylation 1C1 test
ALG8 congenital disorder of glycosylation1 test
Alkuraya-Kucinskas syndrome1 test
Allan-Herndon-Dudley syndrome1 test
Alpha-methylacyl-CoA racemase deficiency1 test
Alpha-N-acetylgalactosaminidase deficiency type 11 test
Alveolar rhabdomyosarcoma1 test
Alzheimer disease 21 test
Alzheimer disease 31 test
Alzheimer disease 91 test
Amelocerebrohypohidrotic syndrome1 test
Aminoacylase 1 deficiency1 test
Aminoglycoside-induced deafness1 test
Amish lethal microcephaly1 test
Amyloidosis, hereditary systemic 11 test
Amyotrophic lateral sclerosis type 11 test
Amyotrophic lateral sclerosis type 101 test
Amyotrophic lateral sclerosis type 121 test
Amyotrophic lateral sclerosis type 151 test
Amyotrophic lateral sclerosis type 181 test
Amyotrophic lateral sclerosis type 191 test
Amyotrophic lateral sclerosis type 201 test
Amyotrophic lateral sclerosis type 211 test
Amyotrophic lateral sclerosis type 221 test
Amyotrophic lateral sclerosis type 41 test
Amyotrophic lateral sclerosis type 61 test
Amyotrophic lateral sclerosis type 81 test
Amyotrophic lateral sclerosis type 91 test
Amyotrophic lateral sclerosis, susceptibility to, 241 test
Anauxetic dysplasia 21 test
Andersen Tawil syndrome1 test
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
Angelman syndrome1 test
Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
Anterior segment dysgenesis 71 test
Antigen in Cartwright blood group system1 test
Anxiety1 test
Aortic valve disease 11 test
Aplastic anemia1 test
Arginase deficiency1 test
Argininosuccinate lyase deficiency1 test
Arrhythmogenic right ventricular dysplasia 11 test
Arrhythmogenic right ventricular dysplasia 131 test
Arterial tortuosity syndrome1 test
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect1 test
Arthrogryposis multiplex congenita 51 test
Arthrogryposis multiplex congenita 61 test
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development1 test
Arthrogryposis, distal, type 2B21 test
Arthrogryposis, distal, with impaired proprioception and touch1 test
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Arthrogryposis, renal dysfunction, and cholestasis 21 test
Aspartylglucosaminuria1 test
Asperger syndrome, X-linked, susceptibility to, 11 test
Asphyxiating thoracic dystrophy 31 test
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome1 test
Ataxia with oculomotor apraxia type 31 test
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1 test
Ataxia-telangiectasia syndrome1 test
Ataxia-telangiectasia-like disorder 11 test
Atypical glycine encephalopathy1 test
Auditory neuropathy-optic atrophy syndrome1 test
Autism spectrum disorder - epilepsy - arthrogryposis syndrome1 test
Autism spectrum disorder due to AUTS2 deficiency1 test
Autism, susceptibility to, 151 test
Autism, susceptibility to, 161 test
Autism, susceptibility to, 171 test
Autism, susceptibility to, X-linked 21 test
Autism, susceptibility to, X-linked 31 test
Autism, susceptibility to, X-linked 41 test
Autoimmune thyroid disease, susceptibility to, 31 test
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation1 test
Autosomal dominant auditory neuropathy 11 test
Autosomal dominant centronuclear myopathy1 test
Autosomal dominant cerebellar ataxia, deafness and narcolepsy1 test
Autosomal dominant hypocalcemia 11 test
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1 test
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1 test
Autosomal dominant limb-girdle muscular dystrophy type 1F1 test
Autosomal dominant limb-girdle muscular dystrophy type 1G1 test
Autosomal dominant mitochondrial myopathy with exercise intolerance1 test
Autosomal dominant nocturnal frontal lobe epilepsy 11 test
Autosomal dominant nocturnal frontal lobe epilepsy 31 test
Autosomal dominant nocturnal frontal lobe epilepsy 41 test
Autosomal dominant nocturnal frontal lobe epilepsy 51 test
Autosomal dominant non-syndromic intellectual disability1 test
Autosomal dominant nonsyndromic hearing loss 11 test
Autosomal dominant nonsyndromic hearing loss 131 test
Autosomal dominant nonsyndromic hearing loss 271 test
Autosomal dominant nonsyndromic hearing loss 61 test
Autosomal dominant nonsyndromic hearing loss 641 test
Autosomal dominant Parkinson disease 41 test
Autosomal dominant Parkinson disease 81 test
Autosomal dominant pseudohypoaldosteronism type 11 test
Autosomal dominant Robinow syndrome 11 test
Autosomal dominant Robinow syndrome 31 test
Autosomal dominant sensory ataxia 11 test
Autosomal dominant sideroblastic anemia1 test
Autosomal dominant slowed nerve conduction velocity1 test
Autosomal recessive ataxia due to ubiquinone deficiency1 test
Autosomal recessive ataxia, Beauce type1 test
Autosomal recessive axonal neuropathy with neuromyotonia1 test
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1 test
Autosomal recessive cutis laxa type 2B1 test
Autosomal recessive cutis laxa type 2D1 test
Autosomal recessive distal spinal muscular atrophy 21 test
Autosomal recessive DOPA responsive dystonia1 test
Autosomal recessive early-onset Parkinson disease 231 test
Autosomal recessive early-onset Parkinson disease 61 test
Autosomal recessive early-onset Parkinson disease 71 test
Autosomal recessive inherited pseudoxanthoma elasticum1 test
Autosomal recessive Kenny-Caffey syndrome1 test
Autosomal recessive limb-girdle muscular dystrophy type 2A1 test
Autosomal recessive limb-girdle muscular dystrophy type 2C1 test
Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
Autosomal recessive limb-girdle muscular dystrophy type 2I1 test
Autosomal recessive limb-girdle muscular dystrophy type 2J1 test
Autosomal recessive limb-girdle muscular dystrophy type 2P1 test
Autosomal recessive limb-girdle muscular dystrophy type 2Q1 test
Autosomal recessive limb-girdle muscular dystrophy type 2R11 test
Autosomal recessive limb-girdle muscular dystrophy type 2T1 test
Autosomal recessive limb-girdle muscular dystrophy type 2U1 test
Autosomal recessive limb-girdle muscular dystrophy type 2W1 test
Autosomal recessive limb-girdle muscular dystrophy type 2X1 test
Autosomal recessive limb-girdle muscular dystrophy type 2Y1 test
Autosomal recessive limb-girdle muscular dystrophy type R181 test
Autosomal recessive multiple pterygium syndrome1 test
Autosomal recessive nonsyndromic hearing loss 1A1 test
Autosomal recessive nonsyndromic hearing loss 211 test
Autosomal recessive nonsyndromic hearing loss 281 test
Autosomal recessive nonsyndromic hearing loss 481 test
Autosomal recessive nonsyndromic hearing loss 741 test
Autosomal recessive nonsyndromic hearing loss 891 test
Autosomal recessive omodysplasia1 test
Autosomal recessive optic atrophy, OPA7 type1 test
Autosomal recessive osteopetrosis 11 test
Autosomal recessive proximal renal tubular acidosis1 test
Autosomal recessive Robinow syndrome1 test
Autosomal recessive spastic paraplegia type 761 test
Autosomal recessive spinocerebellar ataxia 101 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
Autosomal recessive spinocerebellar ataxia 71 test
Autosomal recessive spondylometaphyseal dysplasia, Megarbane type1 test
Axenfeld-Rieger syndrome type 11 test
Axenfeld-Rieger syndrome type 31 test
Ayme-Gripp syndrome1 test
B4GALT1-congenital disorder of glycosylation1 test
Bailey-Bloch congenital myopathy1 test
Band heterotopia of brain1 test
Baraitser-Winter syndrome 11 test
Baraitser-winter syndrome 21 test
Bardet-Biedl syndrome 11 test
Bardet-Biedl syndrome 101 test
Bardet-Biedl syndrome 111 test
Bardet-Biedl syndrome 121 test
Bardet-Biedl syndrome 131 test
Bardet-Biedl syndrome 141 test
Bardet-Biedl syndrome 171 test
Bardet-Biedl syndrome 191 test
Bardet-biedl syndrome 211 test
Bardet-Biedl syndrome 31 test
Bardet-Biedl syndrome 41 test
Bardet-Biedl syndrome 51 test
Bardet-Biedl syndrome 61 test
Bardet-Biedl syndrome 71 test
Bardet-Biedl syndrome 91 test
Barrett esophagus1 test
Bartter disease type 21 test
Bartter disease type 4A1 test
Bartter disease type 4B1 test
Basal ganglia calcification, idiopathic, 51 test
Basal ganglia calcification, idiopathic, 61 test
Basal ganglia calcification, idiopathic, 7, autosomal recessive1 test
Basal ganglia calcification, idiopathic, 8, autosomal recessive1 test
Becker muscular dystrophy1 test
BENTA disease1 test
Beta-D-mannosidosis1 test
Bethlem myopathy 1A1 test
Bethlem myopathy 21 test
Bifunctional peroxisomal enzyme deficiency1 test
Bilateral frontoparietal polymicrogyria1 test
Bilateral parasagittal parieto-occipital polymicrogyria1 test
Biotin-responsive basal ganglia disease1 test
Biotinidase deficiency1 test
Birk-Barel syndrome1 test
Bleeding disorder, platelet-type, 241 test
Blepharophimosis-impaired intellectual development syndrome1 test
Borjeson-Forssman-Lehmann syndrome1 test
Bosch-Boonstra-Schaaf optic atrophy syndrome1 test
Brain small vessel disease 1 with or without ocular anomalies1 test
Brain small vessel disease 31 test
Branched-chain keto acid dehydrogenase kinase deficiency1 test
Branchiooculofacial syndrome1 test
Brody myopathy1 test
Brooke-Spiegler syndrome1 test
Brown-Vialetto-van Laere syndrome 11 test
Brown-Vialetto-van Laere syndrome 21 test
Bruck syndrome 11 test
Bruck syndrome 21 test
Brugada syndrome 41 test
Brugada syndrome 61 test
Brunner syndrome1 test
C syndrome1 test
Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma1 test
Cardiac anomalies - developmental delay - facial dysmorphism syndrome1 test
Cardiac arrhythmia, ankyrin-B-related1 test
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1 test
Cardiac, facial, and digital anomalies with developmental delay1 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 11 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 21 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 31 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 41 test
Cardiofaciocutaneous syndrome 21 test
Cardiofaciocutaneous syndrome 41 test
Cardiomyopathy-hypotonia-lactic acidosis syndrome1 test
Carney complex - trismus - pseudocamptodactyly syndrome1 test
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyl transferase 1A deficiency1 test
Carnitine palmitoyl transferase II deficiency, neonatal form1 test
Cataract 381 test
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome1 test
Cayman type cerebellar ataxia1 test
CCDC115-CDG1 test
CEDNIK syndrome1 test
Celiac disease, susceptibility to, 41 test
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease1 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 11 test
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-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1 test
Cerebellar ataxia-hypogonadism syndrome1 test
Cerebellar atrophy with seizures and variable developmental delay1 test
Cerebellar atrophy, developmental delay, and seizures1 test
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1 test
Cerebral amyloid angiopathy, APP-related1 test
Cerebral cavernous malformation1 test
Cerebral cavernous malformation 21 test
Cerebral cavernous malformation 31 test
Cerebral folate transport deficiency1 test
Cerebral palsy, spastic quadriplegic, 21 test
Cerebrooculofacioskeletal syndrome 11 test
Cerebrooculofacioskeletal syndrome 41 test
Cerebroretinal microangiopathy with calcifications and cysts 11 test
Cernunnos-XLF deficiency1 test
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
Ceroid lipofuscinosis, neuronal, 6A1 test
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)1 test
Char syndrome1 test
Charcot-Marie-Tooth disease axonal type 2F1 test
Charcot-Marie-Tooth disease axonal type 2L1 test
Charcot-Marie-Tooth disease axonal type 2P1 test
Charcot-Marie-Tooth disease axonal type 2Q1 test
Charcot-Marie-Tooth disease axonal type 2S1 test
Charcot-Marie-Tooth disease axonal type 2X1 test
Charcot-Marie-Tooth disease dominant intermediate E1 test
Charcot-Marie-Tooth disease dominant intermediate F1 test
Charcot-Marie-Tooth disease recessive intermediate A1 test
Charcot-Marie-Tooth disease recessive intermediate D1 test
Charcot-Marie-Tooth disease type 1C1 test
Charcot-Marie-Tooth disease type 1D1 test
Charcot-Marie-Tooth disease type 2A21 test
Charcot-Marie-Tooth disease type 2B1 test
Charcot-Marie-Tooth disease type 2B21 test
Charcot-Marie-Tooth disease type 2R1 test
Charcot-Marie-Tooth disease type 4B11 test
Charcot-Marie-Tooth disease type 4B21 test
Charcot-Marie-Tooth disease type 4B31 test
Charcot-Marie-Tooth disease type 4C1 test
Charcot-Marie-Tooth disease type 4D1 test
Charcot-Marie-Tooth disease type 4F1 test
Charcot-Marie-Tooth disease type 4G1 test
Charcot-Marie-Tooth disease type 4H1 test
Charcot-Marie-Tooth disease type 4K1 test
Charcot-Marie-Tooth disease X-linked dominant 11 test
Charcot-Marie-Tooth disease X-linked dominant 61 test
Charcot-Marie-tooth disease, axonal, type 2DD1 test
Charcot-Marie-Tooth disease, demyelinating, IIA 1I1 test
Charcot-Marie-Tooth disease, type IA1 test
Charlevoix-Saguenay spastic ataxia1 test
Child syndrome1 test
Childhood apraxia of speech1 test
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency1 test
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1 test
CHIME syndrome1 test
Cholestanol storage disease1 test
Cholestasis-pigmentary retinopathy-cleft palate syndrome1 test
Chondrodysplasia punctata 2 X-linked dominant1 test
Chorea-acanthocytosis1 test
Christianson syndrome1 test
Chromosome 15q13.3 microdeletion syndrome1 test
Chromosome 1p32-p31 deletion syndrome1 test
Chromosome 2q32-q33 deletion syndrome1 test
Chuvash polycythemia1 test
Chédiak-Higashi syndrome1 test
Ciliary dyskinesia, primary, 441 test
Cirrhosis, familial1 test
Citrullinemia type I1 test
Citrullinemia, type II, adult-onset1 test
Clark-Baraitser syndrome1 test
Classic dopamine transporter deficiency syndrome1 test
Classic homocystinuria1 test
Cleft lip/palate-ectodermal dysplasia syndrome1 test
Clubfoot1 test
COACH syndrome 21 test
Cobalamin C disease1 test
Cobblestone lissencephaly without muscular or ocular involvement1 test
CODAS syndrome1 test
Coenzyme Q10 deficiency, primary, 31 test
Coffin-Siris syndrome 11 test
Coffin-Siris syndrome 61 test
Coffin-Siris syndrome 71 test
Coffin-Siris syndrome 81 test
COG1 congenital disorder of glycosylation1 test
COG5-congenital disorder of glycosylation1 test
COG6-congenital disorder of glycosylation1 test
COG7 congenital disorder of glycosylation1 test
COG8-congenital disorder of glycosylation1 test
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1 test
Cohen syndrome1 test
Cold-induced sweating syndrome 11 test
Cole-Carpenter syndrome 11 test
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness1 test
Combined deficiency of sialidase AND beta galactosidase1 test
Combined immunodeficiency due to DOCK8 deficiency1 test
Combined immunodeficiency due to LRBA deficiency1 test
Combined immunodeficiency due to STIM1 deficiency1 test
Combined malonic and methylmalonic acidemia1 test
Combined oxidative phosphorylation defect type 131 test
Combined oxidative phosphorylation defect type 171 test
Combined oxidative phosphorylation defect type 21 test
Combined oxidative phosphorylation defect type 201 test
Combined oxidative phosphorylation defect type 211 test
Combined oxidative phosphorylation defect type 231 test
Combined oxidative phosphorylation defect type 241 test
Combined oxidative phosphorylation defect type 251 test
Combined oxidative phosphorylation defect type 261 test
Combined oxidative phosphorylation defect type 271 test
Combined oxidative phosphorylation defect type 301 test
Combined oxidative phosphorylation defect type 41 test
Combined oxidative phosphorylation defect type 71 test
Combined oxidative phosphorylation defect type 91 test
Combined oxidative phosphorylation deficiency 221 test
Combined oxidative phosphorylation deficiency 281 test
Combined oxidative phosphorylation deficiency 321 test
Combined oxidative phosphorylation deficiency 331 test
Combined oxidative phosphorylation deficiency 351 test
Combined oxidative phosphorylation deficiency 361 test
Combined oxidative phosphorylation deficiency 391 test
Combined oxidative phosphorylation deficiency 441 test
Complex cortical dysplasia with other brain malformations 21 test
Complex cortical dysplasia with other brain malformations 31 test
Complex cortical dysplasia with other brain malformations 41 test
Complex cortical dysplasia with other brain malformations 51 test
Complex cortical dysplasia with other brain malformations 71 test
Cone-rod dystrophy 71 test
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency1 test
Congenital anomalies of kidney and urinary tract 11 test
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1 test
Congenital bile acid synthesis defect 31 test
Congenital bile acid synthesis defect 51 test
Congenital brain dysgenesis due to glutamine synthetase deficiency1 test
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome1 test
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
Congenital disorder of deglycosylation 11 test
Congenital disorder of glycosylation type 1E1 test
Congenital disorder of glycosylation type Ir1 test
Congenital disorder of glycosylation with defective fucosylation 11 test
Congenital disorder of glycosylation, type IAA1 test
Congenital disorder of glycosylation, type IIr1 test
Congenital fibrosis of extraocular muscles type 11 test
Congenital generalized lipodystrophy type 31 test
Congenital generalized lipodystrophy type 41 test
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies1 test
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type1 test
Congenital lipoid adrenal hyperplasia due to STAR deficency1 test
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome1 test
Congenital multicore myopathy with external ophthalmoplegia1 test
Congenital muscular dystrophy due to integrin alpha-7 deficiency1 test
Congenital muscular dystrophy with intellectual disability and severe epilepsy1 test
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome1 test
Congenital muscular hypertrophy-cerebral syndrome1 test
Congenital myasthenic syndrome 101 test
Congenital myasthenic syndrome 111 test
Congenital myasthenic syndrome 121 test
Congenital myasthenic syndrome 141 test
Congenital myasthenic syndrome 181 test
Congenital myasthenic syndrome 191 test
Congenital myasthenic syndrome 201 test
Congenital myasthenic syndrome 211 test
Congenital myasthenic syndrome 2C1 test
Congenital myasthenic syndrome 3C1 test
Congenital myasthenic syndrome 4B1 test
Congenital myasthenic syndrome 71 test
Congenital myasthenic syndrome 81 test
Congenital myopathy 231 test
Congenital myopathy 4B, autosomal recessive1 test
Congenital myopathy with fiber type disproportion1 test
Congenital myopathy with internal nuclei and atypical cores1 test
Congenital myopathy with reduced type 2 muscle fibers1 test
Congenital myotonia, autosomal recessive form1 test
Congenital nongoitrous hypothyroidism 61 test
Congenital nonprogressive myopathy with Moebius and Robin sequences1 test
Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome1 test
Congenital stationary night blindness 1C1 test
Congenital vertical talus1 test
Conotruncal heart malformations1 test
Corneal dystrophy, Fuchs endothelial, 31 test
Cornelia de Lange syndrome 11 test
Cornelia de Lange syndrome 31 test
Cornelia de Lange syndrome 41 test
Cornelia de Lange syndrome 51 test
Corpus callosum agenesis-abnormal genitalia syndrome1 test
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome1 test
Cortical dysplasia, complex, with other brain malformations 91 test
Cortisone reductase deficiency 21 test
Costello syndrome1 test
Cowden syndrome 71 test
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 11 test
Craniofacial dysplasia - osteopenia syndrome1 test
Craniosynostosis 21 test
Craniosynostosis 61 test
Creatine transporter deficiency1 test
CTCF-related neurodevelopmental disorder1 test
Cutis laxa, autosomal dominant 21 test
Cystic leukoencephalopathy without megalencephaly1 test
Cystinuria1 test
D,L-2-hydroxyglutaric aciduria1 test
D-2-hydroxyglutaric aciduria 11 test
D-2-hydroxyglutaric aciduria 21 test
D-Glyceric aciduria1 test
Danon disease1 test
Deafness dystonia syndrome1 test
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome1 test
Deficiency of 2-methylbutyryl-CoA dehydrogenase1 test
Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
Deficiency of acetyl-CoA acetyltransferase1 test
Deficiency of alpha-mannosidase1 test
Deficiency of aromatic-L-amino-acid decarboxylase1 test
Deficiency of beta-ureidopropionase1 test
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of cytochrome-b5 reductase1 test
Deficiency of ferroxidase1 test
Deficiency of guanidinoacetate methyltransferase1 test
Deficiency of hyaluronoglucosaminidase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase1 test
Deficiency of iodide peroxidase1 test
Deficiency of isobutyryl-CoA dehydrogenase1 test
Deficiency of malonyl-CoA decarboxylase1 test
Deficiency of phosphoserine phosphatase1 test
Deficiency of ribose-5-phosphate isomerase1 test
Deficiency of steroid 11-beta-monooxygenase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
DEGCAGS syndrome1 test
Dent disease type 21 test
DeSanto-Shinawi syndrome due to WAC point mutation1 test
Desmosterolosis1 test
Developmental and epileptic encephalopathy 1011 test
Developmental and epileptic encephalopathy 891 test
Developmental and epileptic encephalopathy 921 test
Developmental and epileptic encephalopathy 941 test
Developmental and epileptic encephalopathy, 121 test
Developmental and epileptic encephalopathy, 181 test
Developmental and epileptic encephalopathy, 21 test
Developmental and epileptic encephalopathy, 211 test
Developmental and epileptic encephalopathy, 231 test
Developmental and epileptic encephalopathy, 241 test
Developmental and epileptic encephalopathy, 251 test
Developmental and epileptic encephalopathy, 261 test
Developmental and epileptic encephalopathy, 271 test
Developmental and epileptic encephalopathy, 31 test
Developmental and epileptic encephalopathy, 301 test
Developmental and epileptic encephalopathy, 31A1 test
Developmental and epileptic encephalopathy, 321 test
Developmental and epileptic encephalopathy, 331 test
Developmental and epileptic encephalopathy, 341 test
Developmental and epileptic encephalopathy, 361 test
Developmental and epileptic encephalopathy, 371 test
Developmental and epileptic encephalopathy, 381 test
Developmental and epileptic encephalopathy, 391 test
Developmental and epileptic encephalopathy, 41 test
Developmental and epileptic encephalopathy, 401 test
Developmental and epileptic encephalopathy, 411 test
Developmental and epileptic encephalopathy, 421 test
Developmental and epileptic encephalopathy, 431 test
Developmental and epileptic encephalopathy, 441 test
Developmental and epileptic encephalopathy, 451 test
Developmental and epileptic encephalopathy, 461 test
Developmental and epileptic encephalopathy, 471 test
Developmental and epileptic encephalopathy, 491 test
Developmental and epileptic encephalopathy, 51 test
Developmental and epileptic encephalopathy, 501 test
Developmental and epileptic encephalopathy, 511 test
Developmental and epileptic encephalopathy, 521 test
Developmental and epileptic encephalopathy, 541 test
Developmental and epileptic encephalopathy, 551 test
Developmental and epileptic encephalopathy, 561 test
Developmental and epileptic encephalopathy, 571 test
Developmental and epileptic encephalopathy, 591 test
Developmental and epileptic encephalopathy, 601 test
Developmental and epileptic encephalopathy, 611 test
Developmental and epileptic encephalopathy, 621 test
Developmental and epileptic encephalopathy, 631 test
Developmental and epileptic encephalopathy, 641 test
Developmental and epileptic encephalopathy, 651 test
Developmental and epileptic encephalopathy, 661 test
Developmental and epileptic encephalopathy, 671 test
Developmental and epileptic encephalopathy, 681 test
Developmental and epileptic encephalopathy, 691 test
Developmental and epileptic encephalopathy, 701 test
Developmental and epileptic encephalopathy, 721 test
Developmental and epileptic encephalopathy, 731 test
Developmental and epileptic encephalopathy, 751 test
Developmental and epileptic encephalopathy, 771 test
Developmental and epileptic encephalopathy, 781 test
Developmental and epileptic encephalopathy, 791 test
Developmental and epileptic encephalopathy, 81 test
Developmental and epileptic encephalopathy, 801 test
Developmental and epileptic encephalopathy, 821 test
Developmental and epileptic encephalopathy, 831 test
Developmental and epileptic encephalopathy, 91 test
Developmental delay with autism spectrum disorder and gait instability1 test
Developmental delay with or without intellectual impairment or behavioral abnormalities1 test
Developmental delay with variable intellectual impairment and behavioral abnormalities1 test
Diabetes mellitus, permanent neonatal 31 test
Diamond-Blackfan anemia 51 test
Dias-Logan syndrome1 test
Dicarboxylic aminoaciduria1 test
Diencephalic-mesencephalic junction dysplasia syndrome 11 test
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1 test
Dihydropteridine reductase deficiency1 test
Dihydropyrimidinase deficiency1 test
Dihydropyrimidine dehydrogenase deficiency1 test
Dilated cardiomyopathy 1C1 test
Dilated cardiomyopathy 1L1 test
Dilated cardiomyopathy 1NN1 test
Dilated cardiomyopathy 1V1 test
Dimethylglycine dehydrogenase deficiency1 test
Distal arthrogryposis type 2B11 test
Distal arthrogryposis type 5D1 test
Distal myopathy, Tateyama type1 test
DK1-congenital disorder of glycosylation1 test
Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
DPAGT1-congenital disorder of glycosylation1 test
DYRK1A-related intellectual disability syndrome1 test
Dyskeratosis congenita, autosomal dominant 31 test
Dyskeratosis congenita, X-linked1 test
Dyskinesia with orofacial involvement, autosomal dominant1 test
Dyskinesia with orofacial involvement, autosomal recessive1 test
Dystonia 161 test
Dystonia 241 test
Dystonia 251 test
Dystonia 28, childhood-onset1 test
Dystonia 321 test
Dystonia 91 test
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities1 test
Early-onset autosomal dominant Alzheimer disease1 test
Early-onset myopathy with fatal cardiomyopathy1 test
Early-onset Parkinson disease 201 test
Early-onset parkinsonism-intellectual disability syndrome1 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
Ectopia lentis 1, isolated, autosomal dominant1 test
Ehlers-Danlos syndrome, kyphoscoliotic type, 21 test
Ehlers-Danlos syndrome, musculocontractural type 11 test
Elsahy-Waters syndrome1 test
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
Encephalopathy due to defective mitochondrial and peroxisomal fission 21 test
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 81 test
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11 test
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities1 test
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 11 test
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome1 test
Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive1 test
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency1 test
Epilepsy with myoclonic atonic seizures1 test
Epilepsy, childhood absence, susceptibility to, 61 test
Epilepsy, early-onset, vitamin B6-dependent1 test
Epilepsy, early-onset, with or without developmental delay1 test
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, familial temporal lobe, 11 test
Epilepsy, idiopathic generalized, susceptibility to, 101 test
Epilepsy, idiopathic generalized, susceptibility to, 131 test
Epilepsy, idiopathic generalized, susceptibility to, 151 test
Epilepsy, juvenile myoclonic, susceptibility to, 101 test
Epilepsy, progressive myoclonic, 111 test
Epilepsy, progressive myoclonic, 1B1 test
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1 test
Episodic ataxia type 11 test
Episodic ataxia type 51 test
Episodic ataxia type 61 test
Episodic ataxia, type 91 test
Episodic pain syndrome, familial, 21 test
Epsilon-trimethyllysine hydroxylase deficiency1 test
Erythrokeratodermia variabilis et progressiva 31 test
Ethylmalonic encephalopathy1 test
Ewing sarcoma1 test
Exostoses, multiple, type 11 test
Extraskeletal myxoid chondrosarcoma1 test
Exudative vitreoretinopathy 2, X-linked1 test
Fabry disease1 test
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome1 test
Facioscapulohumeral muscular dystrophy 21 test
FADD-related immunodeficiency1 test
Familial adenomatous polyposis 31 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial cancer of breast1 test
Familial cold autoinflammatory syndrome 21 test
Familial digital arthropathy-brachydactyly1 test
Familial dysfibrinogenemia1 test
Familial encephalopathy with neuroserpin inclusion bodies1 test
Familial gestational hyperthyroidism1 test
Familial hypokalemia-hypomagnesemia1 test
Familial infantile bilateral striatal necrosis1 test
Familial infantile myasthenia1 test
Familial isolated deficiency of vitamin E1 test
Familial meningioma1 test
Familial pseudohyperkalemia1 test
Familial steroid-resistant nephrotic syndrome with sensorineural deafness1 test
Familial temporal lobe epilepsy 51 test
Familial temporal lobe epilepsy 71 test
Fanconi anemia complementation group B1 test
Fanconi renotubular syndrome 11 test
Fanconi renotubular syndrome 51 test
Farber lipogranulomatosis1 test
Fatal infantile hypertonic myofibrillar myopathy1 test
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31 test
Febrile seizures, familial, 81 test
Feingold syndrome type 11 test
Fetal akinesia deformation sequence 11 test
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies1 test
FG syndrome 41 test
Fibromatosis, gingival, 11 test
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1 test
Finnish type amyloidosis1 test
Floating-Harbor syndrome1 test
Focal dermal hypoplasia1 test
Focal segmental glomerulosclerosis 21 test
Focal segmental glomerulosclerosis 61 test
Focal segmental glomerulosclerosis and neurodevelopmental syndrome1 test
Foveal hypoplasia 11 test
Fowler syndrome1 test
FOXG1 disorder1 test
Fraser syndrome 31 test
FRAXE1 test
Freeman-Sheldon syndrome1 test
Friedreich ataxia 11 test
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1 test
Frontonasal dysplasia with alopecia and genital anomaly1 test
Frontorhiny1 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 51 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 61 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 71 test
Fucosidosis1 test
Gabriele de Vries syndrome1 test
Galactosylceramide beta-galactosidase deficiency1 test
Galloway-Mowat syndrome 11 test
Galloway-Mowat syndrome 31 test
Galloway-Mowat syndrome 81 test
Gamma-aminobutyric acid transaminase deficiency1 test
Gastrointestinal stromal tumor1 test
Gaucher disease type I1 test
Geleophysic dysplasia 11 test
Generalized epilepsy with febrile seizures plus, type 91 test
Genitopatellar syndrome1 test
Giant axonal neuropathy 11 test
Gillespie syndrome1 test
Gillessen-Kaesbach-Nishimura syndrome1 test
Global developmental delay with or without impaired intellectual development1 test
Glucocorticoid deficiency 41 test
Glucocorticoid deficiency with achalasia1 test
Glutamate pyruvate transaminase 2 deficiency1 test
Glutaric aciduria, type 11 test
Glutaryl-CoA oxidase deficiency1 test
Glutathione synthetase deficiency with 5-oxoprolinuria1 test
Glutathione synthetase deficiency without 5-oxoprolinuria1 test
Gluthathione peroxidase deficiency1 test
Glycine encephalopathy1 test
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency1 test
Glycogen storage disease due to muscle and heart glycogen synthase deficiency1 test
Glycogen storage disease due to muscle beta-enolase deficiency1 test
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
Glycogen storage disease IXd1 test
Glycogen storage disease type III1 test
Glycogen storage disease type X1 test
Glycogen storage disease XV1 test
Glycogen storage disease, type II1 test
Glycogen storage disease, type V1 test
Glycogen storage disease, type VII1 test
Glycosylphosphatidylinositol biosynthesis defect 151 test
Glycosylphosphatidylinositol biosynthesis defect 161 test
Glycosylphosphatidylinositol biosynthesis defect 171 test
Glycosylphosphatidylinositol biosynthesis defect 181 test
Glycosylphosphatidylinositol biosynthesis defect 211 test
GM1 gangliosidosis type 31 test
GM3 synthase deficiency1 test
GNPTG-mucolipidosis1 test
Goldberg-Shprintzen syndrome1 test
Gorlin syndrome1 test
Greig cephalopolysyndactyly syndrome1 test
Griscelli syndrome type 11 test
Griscelli syndrome type 21 test
Griscelli syndrome type 31 test
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome1 test
Growth delay due to insulin-like growth factor I resistance1 test
Growth delay due to insulin-like growth factor type 1 deficiency1 test
GTP cyclohydrolase I deficiency with hyperphenylalaninemia1 test
Hajdu-Cheney syndrome1 test
Harderoporphyria1 test
Hearing loss, autosomal dominant 711 test
Hearing loss, autosomal dominant 751 test
Heart-hand syndrome, Slovenian type1 test
Heimler syndrome 11 test
Heimler syndrome 21 test
Heinz body anemia1 test
Hemochromatosis type 2B1 test
Hemochromatosis type 31 test
Hemolytic anemia due to glucophosphate isomerase deficiency1 test
Hemolytic anemia due to glutathione reductase deficiency1 test
Hepatitis C virus, susceptibility to1 test
Hepatocellular carcinoma1 test
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 11 test
Hereditary cerebral amyloid angiopathy, Icelandic type1 test
Hereditary coproporphyria1 test
Hereditary fructosuria1 test
Hereditary insensitivity to pain with anhidrosis1 test
Hereditary leiomyomatosis and renal cell cancer1 test
Hereditary myopathy with lactic acidosis due to ISCU deficiency1 test
Hereditary sensory and autonomic neuropathy with spastic paraplegia1 test
Hereditary spastic paraplegia 101 test
Hereditary spastic paraplegia 121 test
Hereditary spastic paraplegia 131 test
Hereditary spastic paraplegia 151 test
Hereditary spastic paraplegia 181 test
Hereditary spastic paraplegia 21 test
Hereditary spastic paraplegia 261 test
Hereditary spastic paraplegia 281 test
Hereditary spastic paraplegia 301 test
Hereditary spastic paraplegia 331 test
Hereditary spastic paraplegia 351 test
Hereditary spastic paraplegia 41 test
Hereditary spastic paraplegia 421 test
Hereditary spastic paraplegia 431 test
Hereditary spastic paraplegia 451 test
Hereditary spastic paraplegia 461 test
Hereditary spastic paraplegia 471 test
Hereditary spastic paraplegia 481 test
Hereditary spastic paraplegia 491 test
Hereditary spastic paraplegia 501 test
Hereditary spastic paraplegia 511 test
Hereditary spastic paraplegia 521 test
Hereditary spastic paraplegia 531 test
Hereditary spastic paraplegia 541 test
Hereditary spastic paraplegia 551 test
Hereditary spastic paraplegia 561 test
Hereditary spastic paraplegia 571 test
Hereditary spastic paraplegia 61 test
Hereditary spastic paraplegia 611 test
Hereditary spastic paraplegia 621 test
Hereditary spastic paraplegia 641 test
Hereditary spastic paraplegia 71 test
Hereditary spastic paraplegia 721 test
Hereditary spastic paraplegia 731 test
Hereditary spastic paraplegia 751 test
Hereditary spastic paraplegia 771 test
Hereditary spastic paraplegia 9A1 test
Hermansky-Pudlak syndrome 11 test
Hermansky-Pudlak syndrome 21 test
Hermansky-Pudlak syndrome 41 test
Hermansky-Pudlak syndrome 51 test
Hermansky-Pudlak syndrome 61 test
Hermansky-Pudlak syndrome 71 test
Hermansky-Pudlak syndrome 81 test
Hermansky-Pudlak syndrome 91 test
Heterotaxy, visceral, 1, X-linked1 test
Heyn-Sproul-Jackson syndrome1 test
Hiatt-Neu-Cooper neurodevelopmental syndrome1 test
Hirschsprung disease, susceptibility to, 31 test
HNSHA due to aldolase A deficiency1 test
Hogue-Janssens syndrome 11 test
Holocarboxylase synthetase deficiency1 test
Holoprosencephaly 111 test
Holoprosencephaly 31 test
Holoprosencephaly 41 test
Holoprosencephaly 51 test
Houge-Janssens syndrome 21 test
Houge-Janssens syndrome 31 test
HSD10 mitochondrial disease1 test
Human HOXA1 syndromes1 test
Huntington disease-like 11 test
Huppke-Brendel syndrome1 test
Hurler syndrome1 test
Hyaline fibromatosis syndrome1 test
Hydrocephalus, nonsyndromic, autosomal recessive 21 test
Hydrolethalus syndrome 21 test
Hyper-IgM syndrome type 51 test
Hyperammonemia, type III1 test
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency1 test
Hypercalcemia, infantile, 11 test
Hypercholesterolemia, familial, 11 test
Hyperekplexia 11 test
Hyperekplexia 21 test
Hyperekplexia 31 test
Hyperekplexia 41 test
Hyperinsulinemic hypoglycemia, familial, 41 test
Hyperinsulinism-hyperammonemia syndrome1 test
Hyperlysinemia1 test
Hypermanganesemia with dystonia 21 test
Hypermanganesemia with dystonia, polycythemia, and cirrhosis1 test
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase1 test
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
Hyperostosis cranialis interna1 test
Hyperphenylalaninemia due to DNAJC12 deficiency1 test
Hyperphosphatasia with intellectual disability syndrome 11 test
Hyperphosphatasia with intellectual disability syndrome 21 test
Hyperphosphatasia with intellectual disability syndrome 31 test
Hyperphosphatasia with intellectual disability syndrome 51 test
Hyperprolinemia type 21 test
Hypertrophic cardiomyopathy 101 test
Hypertrophic cardiomyopathy 121 test
Hypertrophic cardiomyopathy 181 test
Hypertrophic cardiomyopathy 251 test
Hypertrophic cardiomyopathy 261 test
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome1 test
Hypogonadotropic hypogonadism 22 with or without anosmia1 test
Hypogonadotropic hypogonadism 5 with or without anosmia1 test
Hypokalemic periodic paralysis, type 11 test
Hypokalemic periodic paralysis, type 21 test
Hypomagnesemia, seizures, and intellectual disability 11 test
Hypomyelinating leukodystrophy 101 test
Hypomyelinating leukodystrophy 131 test
Hypomyelinating leukodystrophy 31 test
Hypomyelinating leukodystrophy 41 test
Hypomyelinating leukodystrophy 61 test
Hypomyelinating leukodystrophy 91 test
Hypomyelination and Congenital Cataract1 test
Hypomyelination with brain stem and spinal cord involvement and leg spasticity1 test
Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
Hypospadias 2, X-linked1 test
Hypotonia with lactic acidemia and hyperammonemia1 test
Hypotonia, ataxia, and delayed development syndrome1 test
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities1 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 21 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31 test
Ichthyosis prematurity syndrome1 test
Idiopathic basal ganglia calcification 11 test
IFAP syndrome 1, with or without BRESHECK syndrome1 test
Immunodeficiency 471 test
Immunodeficiency 751 test
Immunodeficiency 951 test
Immunodeficiency, developmental delay, and hypohomocysteinemia1 test
Immunodeficiency-centromeric instability-facial anomalies syndrome 21 test
Inborn glycerol kinase deficiency1 test
Inclusion body myopathy and brain white matter abnormalities1 test
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 21 test
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 31 test
Infantile cerebellar-retinal degeneration1 test
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly1 test
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency1 test
Infantile liver failure syndrome 21 test
Infantile nephronophthisis1 test
Infantile neuroaxonal dystrophy1 test
Infantile onset spinocerebellar ataxia1 test
Infantile-onset X-linked spinal muscular atrophy1 test
Inflammatory bowel disease, immunodeficiency, and encephalopathy1 test
Inosine triphosphatase deficiency1 test
Intellectual developmental disorder 591 test
Intellectual developmental disorder 60 with seizures1 test
Intellectual developmental disorder 611 test
Intellectual developmental disorder 621 test
Intellectual developmental disorder with autism and macrocephaly1 test
Intellectual developmental disorder with autism and speech delay1 test
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1 test
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies1 test
Intellectual developmental disorder with macrocephaly, seizures, and speech delay1 test
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism1 test
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1 test
Intellectual developmental disorder, autosomal dominant 641 test
Intellectual developmental disorder, autosomal dominant 651 test
Intellectual developmental disorder, autosomal dominant 671 test
Intellectual developmental disorder, autosomal dominant 681 test
Intellectual developmental disorder, autosomal recessive 671 test
Intellectual developmental disorder, autosomal recessive 761 test
Intellectual disability, anterior maxillary protrusion, and strabismus1 test
Intellectual disability, autosomal dominant 11 test
Intellectual disability, autosomal dominant 111 test
Intellectual disability, autosomal dominant 131 test
Intellectual disability, autosomal dominant 141 test
Intellectual disability, autosomal dominant 221 test
Intellectual disability, autosomal dominant 241 test
Intellectual disability, autosomal dominant 291 test
Intellectual disability, autosomal dominant 31 test
Intellectual disability, autosomal dominant 301 test
Intellectual disability, autosomal dominant 331 test
Intellectual disability, autosomal dominant 391 test
Intellectual disability, autosomal dominant 401 test
Intellectual disability, autosomal dominant 411 test
Intellectual disability, autosomal dominant 421 test
Intellectual disability, autosomal dominant 431 test
Intellectual disability, autosomal dominant 451 test
Intellectual disability, autosomal dominant 461 test
Intellectual disability, autosomal dominant 471 test
Intellectual disability, autosomal dominant 481 test
Intellectual disability, autosomal dominant 51 test
Intellectual disability, autosomal dominant 501 test
Intellectual disability, autosomal dominant 511 test
Intellectual disability, autosomal dominant 521 test
Intellectual disability, autosomal dominant 531 test
Intellectual disability, autosomal dominant 541 test
Intellectual disability, autosomal dominant 55, with seizures1 test
Intellectual disability, autosomal dominant 561 test
Intellectual disability, autosomal dominant 571 test
Intellectual disability, autosomal dominant 581 test
Intellectual disability, autosomal recessive 11 test
Intellectual disability, autosomal recessive 121 test
Intellectual disability, autosomal recessive 131 test
Intellectual disability, autosomal recessive 141 test
Intellectual disability, autosomal recessive 181 test
Intellectual disability, autosomal recessive 21 test
Intellectual disability, autosomal recessive 271 test
Intellectual disability, autosomal recessive 31 test
Intellectual disability, autosomal recessive 341 test
Intellectual disability, autosomal recessive 421 test
Intellectual disability, autosomal recessive 431 test
Intellectual disability, autosomal recessive 441 test
Intellectual disability, autosomal recessive 461 test
Intellectual disability, autosomal recessive 51 test
Intellectual disability, autosomal recessive 501 test
Intellectual disability, autosomal recessive 511 test
Intellectual disability, autosomal recessive 521 test
Intellectual disability, autosomal recessive 531 test
Intellectual disability, autosomal recessive 541 test
Intellectual disability, autosomal recessive 561 test
Intellectual disability, autosomal recessive 571 test
Intellectual disability, autosomal recessive 581 test
Intellectual disability, autosomal recessive 591 test
Intellectual disability, autosomal recessive 61 test
Intellectual disability, autosomal recessive 601 test
Intellectual disability, autosomal recessive 611 test
Intellectual disability, autosomal recessive 651 test
Intellectual disability, autosomal recessive 661 test
Intellectual disability, autosomal recessive 71 test
Intellectual disability, FRA12A type1 test
Intellectual disability, X-linked 11 test
Intellectual disability, X-linked 1021 test
Intellectual disability, X-linked 1041 test
Intellectual disability, X-linked 191 test
Intellectual disability, X-linked 211 test
Intellectual disability, X-linked 301 test
Intellectual disability, X-linked 411 test
Intellectual disability, X-linked 491 test
Intellectual disability, X-linked 581 test
Intellectual disability, X-linked 631 test
Intellectual disability, X-linked 91 test
Intellectual disability, X-linked 931 test
Intellectual disability, X-linked 961 test
Intellectual disability, X-linked 971 test
Intellectual disability, X-linked 99, syndromic, female-restricted1 test
Intellectual disability, X-linked syndromic, Turner type1 test
Intellectual disability, X-linked, syndromic, 351 test
Intellectual disability, X-linked, syndromic, Bain type1 test
Intellectual disability, X-linked, syndromic, Houge type1 test
Intellectual disability, X-linked, with panhypopituitarism1 test
Intellectual disability-epilepsy-extrapyramidal syndrome1 test
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1 test
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1 test
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1 test
Intellectual disability-severe speech delay-mild dysmorphism syndrome1 test
Intellectual disability-strabismus syndrome1 test
Intestinal hypomagnesemia 11 test
Isolated thyroid-stimulating hormone deficiency1 test
Isovaleryl-CoA dehydrogenase deficiency1 test
Jaberi-Elahi syndrome1 test
Jackson-Weiss syndrome1 test
Jawad syndrome1 test
Johanson-Blizzard syndrome1 test
Joubert syndrome 11 test
Joubert syndrome 131 test
Joubert syndrome 141 test
Joubert syndrome 151 test
Joubert syndrome 161 test
Joubert syndrome 171 test
Joubert syndrome 21 test
Joubert syndrome 211 test
Joubert syndrome 221 test
Joubert syndrome 241 test
Joubert syndrome 271 test
Joubert syndrome 281 test
Joubert syndrome 31 test
Joubert syndrome 51 test
Joubert syndrome 81 test
Juvenile myelomonocytic leukemia1 test
Juvenile onset Parkinson disease 19A1 test
Juvenile polyposis syndrome1 test
Juvenile primary lateral sclerosis1 test
Kabuki syndrome 11 test
Kabuki syndrome 21 test
Kahrizi syndrome1 test
Karyomegalic interstitial nephritis1 test
KBG syndrome1 test
Keipert syndrome1 test
Keratosis follicularis1 test
Ketoacidosis due to monocarboxylate transporter-1 deficiency1 test
Kleefstra syndrome 11 test
Kleefstra syndrome 21 test
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome1 test
Koolen-de Vries syndrome1 test
Kostmann syndrome1 test
Kufor-Rakeb syndrome1 test
L-2-hydroxyglutaric aciduria1 test
L-ferritin deficiency1 test
Lafora disease1 test
Lamb-Shaffer syndrome1 test
Landau-Kleffner syndrome1 test
Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia1 test
Lateral meningocele syndrome1 test
Lathosterolosis1 test
Laurence-Moon syndrome1 test
Leber congenital amaurosis 101 test
Left ventricular noncompaction 101 test
Left ventricular noncompaction 71 test
LEOPARD syndrome 31 test
Lesch-Nyhan syndrome1 test
Lethal congenital contracture syndrome 11 test
Lethal congenital contracture syndrome 111 test
Lethal congenital contracture syndrome 31 test
Lethal congenital contracture syndrome 91 test
Lethal Kniest-like syndrome1 test
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome1 test
Lethal multiple pterygium syndrome1 test
Lethal polymalformative syndrome, Boissel type1 test
Leukocyte adhesion deficiency type II1 test
Leukodystrophy and acquired microcephaly with or without dystonia;1 test
Leukodystrophy, hypomyelinating, 141 test
Leukodystrophy, hypomyelinating, 151 test
Leukodystrophy, hypomyelinating, 161 test
Leukodystrophy, hypomyelinating, 171 test
Leukodystrophy, hypomyelinating, 181 test
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
Leukoencephalopathy with mild cerebellar ataxia and white matter edema1 test
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate1 test
Leukoencephalopathy, diffuse hereditary, with spheroids 11 test
Leukoencephalopathy, hereditary diffuse, with spheroids 21 test
Leukoencephalopathy, progressive, with ovarian failure1 test
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome1 test
Levy-Hollister syndrome1 test
Lewy body dementia1 test
Li-Ghorbani-Weisz-Hubshman syndrome1 test
Limb-girdle muscular dystrophy due to POMK deficiency1 test
Linear skin defects with multiple congenital anomalies 11 test
Linear skin defects with multiple congenital anomalies 21 test
Lipoic acid synthetase deficiency1 test
Lipoyl transferase 1 deficiency1 test
Lissencephaly 6 with microcephaly1 test
Lissencephaly 81 test
Lissencephaly 9 with complex brainstem malformation1 test
Lissencephaly due to LIS1 mutation1 test
Lissencephaly due to TUBA1A mutation1 test
Lissencephaly type 1 due to doublecortin gene mutation1 test
Long QT syndrome 121 test
Lower motor neuron syndrome with late-adult onset1 test
Lung cancer1 test
Lung disease, immunodeficiency, and chromosome breakage syndrome;1 test
Luscan-Lumish syndrome1 test
Lymphatic malformation 31 test
Lysinuric protein intolerance1 test
Lysosomal acid lipase deficiency1 test
Macrocephaly, acquired, with impaired intellectual development1 test
Macrocephaly-developmental delay syndrome1 test
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome1 test
Macular degeneration, early-onset1 test
Macular dystrophy with central cone involvement1 test
Malan overgrowth syndrome1 test
Mandibulofacial dysostosis-microcephaly syndrome1 test
Maple syrup urine disease1 test
Marinesco-Sjögren syndrome1 test
Marshall-Smith syndrome1 test
Martsolf syndrome 11 test
Mast syndrome1 test
Matthew-Wood syndrome1 test
Maturity-onset diabetes of the young type 21 test
Maturity-onset diabetes of the young type 81 test
McCune-Albright syndrome1 test
McLeod neuroacanthocytosis syndrome1 test
Meckel syndrome, type 11 test
Meckel syndrome, type 101 test
Meckel syndrome, type 111 test
Meckel syndrome, type 41 test
Meckel syndrome, type 51 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
MEDNIK syndrome1 test
Medulloblastoma1 test
Megaconial type congenital muscular dystrophy1 test
Megalencephalic leukoencephalopathy with subcortical cysts 11 test
Megalencephalic leukoencephalopathy with subcortical cysts 2A1 test
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
MEGF10-related myopathy1 test
MEHMO syndrome1 test
Meier-Gorlin syndrome 11 test
Melorheostosis1 test
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency1 test
Menke-Hennekam syndrome 21 test
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression1 test
Metachromatic leukodystrophy1 test
Methemoglobinemia type 41 test
Methylcobalamin deficiency type cblG1 test
Methylmalonate semialdehyde dehydrogenase deficiency1 test
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency1 test
Methylmalonic acidemia due to transcobalamin receptor defect1 test
Methylmalonic acidemia with homocystinuria, type cblJ1 test
Methylmalonic acidemia with homocystinuria, type cblX1 test
Methylmalonic aciduria and homocystinuria type cblD1 test
Methylmalonic aciduria and homocystinuria type cblF1 test
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
Methylmalonic aciduria, cblA type1 test
Methylmalonic aciduria, cblB type1 test
MGAT2-congenital disorder of glycosylation1 test
Microcephalic osteodysplastic dysplasia, Saul-Wilson type1 test
Microcephalic osteodysplastic primordial dwarfism type II1 test
Microcephalic primordial dwarfism due to RTTN deficiency1 test
Microcephalic primordial dwarfism due to ZNF335 deficiency1 test
Microcephaly 1, primary, autosomal recessive1 test
Microcephaly 14, primary, autosomal recessive1 test
Microcephaly 15, primary, autosomal recessive1 test
Microcephaly 16, primary, autosomal recessive1 test
Microcephaly 17, primary, autosomal recessive1 test
Microcephaly 18, primary, autosomal dominant1 test
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations1 test
Microcephaly 20, primary, autosomal recessive1 test
Microcephaly 22, primary, autosomal recessive1 test
Microcephaly 26, primary, autosomal dominant1 test
Microcephaly 3, primary, autosomal recessive1 test
Microcephaly 4, primary, autosomal recessive1 test
Microcephaly 5, primary, autosomal recessive1 test
Microcephaly 6, primary, autosomal recessive1 test
Microcephaly 7, primary, autosomal recessive1 test
Microcephaly 8, primary, autosomal recessive1 test
Microcephaly and chorioretinopathy 11 test
Microcephaly and chorioretinopathy 21 test
Microcephaly and chorioretinopathy 31 test
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1 test
Microcephaly, epilepsy, and diabetes syndrome 11 test
Microcephaly, short stature, and impaired glucose metabolism 11 test
Microcephaly-capillary malformation syndrome1 test
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome1 test
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1 test
Microcephaly-thin corpus callosum-intellectual disability syndrome1 test
Microphthalmia, syndromic 11 test
Microvascular complications of diabetes, susceptibility to, 51 test
Microvascular complications of diabetes, susceptibility to, 61 test
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis1 test
Miller Dieker syndrome1 test
Miller syndrome1 test
Mitchell syndrome1 test
Mitochondrial complex I deficiency, nuclear type 11 test
Mitochondrial complex I deficiency, nuclear type 101 test
Mitochondrial complex I deficiency, nuclear type 111 test
Mitochondrial complex I deficiency, nuclear type 121 test
Mitochondrial complex I deficiency, nuclear type 131 test
Mitochondrial complex I deficiency, nuclear type 141 test
Mitochondrial complex I deficiency, nuclear type 151 test
Mitochondrial complex I deficiency, nuclear type 161 test
Mitochondrial complex I deficiency, nuclear type 181 test
Mitochondrial complex I deficiency, nuclear type 191 test
Mitochondrial complex I deficiency, nuclear type 21 test
Mitochondrial complex I deficiency, nuclear type 211 test
Mitochondrial complex I deficiency, nuclear type 221 test
Mitochondrial complex I deficiency, nuclear type 231 test
Mitochondrial complex I deficiency, nuclear type 241 test
Mitochondrial complex I deficiency, nuclear type 251 test
Mitochondrial complex I deficiency, nuclear type 261 test
Mitochondrial complex I deficiency, nuclear type 271 test
Mitochondrial complex I deficiency, nuclear type 291 test
Mitochondrial complex I deficiency, nuclear type 31 test
Mitochondrial complex I deficiency, nuclear type 301 test
Mitochondrial complex I deficiency, nuclear type 311 test
Mitochondrial complex I deficiency, nuclear type 321 test
Mitochondrial complex I deficiency, nuclear type 331 test
Mitochondrial complex I deficiency, nuclear type 41 test
Mitochondrial complex I deficiency, nuclear type 51 test
Mitochondrial complex I deficiency, nuclear type 61 test
Mitochondrial complex I deficiency, nuclear type 71 test
Mitochondrial complex I deficiency, nuclear type 81 test
Mitochondrial complex I deficiency, nuclear type 91 test
Mitochondrial complex II deficiency, nuclear type 11 test
Mitochondrial complex III deficiency nuclear type 11 test
Mitochondrial complex III deficiency nuclear type 21 test
Mitochondrial complex III deficiency nuclear type 31 test
Mitochondrial complex III deficiency nuclear type 41 test
Mitochondrial complex III deficiency nuclear type 51 test
Mitochondrial complex III deficiency nuclear type 61 test
Mitochondrial complex III deficiency nuclear type 71 test
Mitochondrial complex III deficiency nuclear type 81 test
Mitochondrial complex IV deficiency, nuclear type 11 test
Mitochondrial complex IV deficiency, nuclear type 101 test
Mitochondrial complex IV deficiency, nuclear type 111 test
Mitochondrial complex IV deficiency, nuclear type 121 test
Mitochondrial complex IV deficiency, nuclear type 171 test
Mitochondrial complex IV deficiency, nuclear type 31 test
Mitochondrial complex IV deficiency, nuclear type 41 test
Mitochondrial complex IV deficiency, nuclear type 71 test
Mitochondrial complex IV deficiency, nuclear type 81 test
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 11 test
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 21 test
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 31 test
Mitochondrial DNA deletion syndrome with progressive myopathy1 test
Mitochondrial DNA depletion syndrome 11 test
Mitochondrial DNA depletion syndrome 111 test
Mitochondrial DNA depletion syndrome 131 test
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 91 test
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1 test
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy1 test
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome1 test
Mitochondrial myopathy-lactic acidosis-deafness syndrome1 test
Mitochondrial pyruvate carrier deficiency1 test
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency1 test
Mitochondrial trifunctional protein deficiency1 test
Miyoshi muscular dystrophy 11 test
Miyoshi muscular dystrophy 31 test
MOGS-congenital disorder of glycosylation1 test
Mowat-Wilson syndrome1 test
MPDU1-congenital disorder of glycosylation1 test
MPI-congenital disorder of glycosylation1 test
Mucolipidosis type II1 test
Mucolipidosis type IV1 test
Mucopolysaccharidosis type 61 test
Mucopolysaccharidosis type 71 test
Mucopolysaccharidosis, MPS-II1 test
Mucopolysaccharidosis, MPS-III-A1 test
Mucopolysaccharidosis, MPS-III-B1 test
Mucopolysaccharidosis, MPS-III-D1 test
Mucopolysaccharidosis, MPS-IV-A1 test
Multiple acyl-CoA dehydrogenase deficiency1 test
Multiple congenital anomalies-hypotonia-seizures syndrome 11 test
Multiple congenital anomalies-hypotonia-seizures syndrome 21 test
Multiple epiphyseal dysplasia, Al-Gazali type1 test
Multiple mitochondrial dysfunctions syndrome 11 test
Multiple mitochondrial dysfunctions syndrome 21 test
Multiple mitochondrial dysfunctions syndrome 41 test
Multiple mitochondrial dysfunctions syndrome 51 test
Multiple mitochondrial dysfunctions syndrome 61 test
Multiple sclerosis, susceptibility to1 test
Multiple sulfatase deficiency1 test
Multiple system atrophy 1, susceptibility to1 test
Multisystemic smooth muscle dysfunction syndrome1 test
Mungan syndrome1 test
Muscle AMP deaminase deficiency1 test
Muscular dystrophy, limb-girdle, autosomal recessive 231 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A131 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A21 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A61 test
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 151 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B11 test
Myasthenic syndrome, congenital, 221 test
Myasthenic syndrome, congenital, 23, presynaptic1 test
Myasthenic syndrome, congenital, 24, presynaptic1 test
Myelodysplastic syndrome1 test
Myelodysplastic syndrome associated with isolated del(5q)1 test
MYH7-related skeletal myopathy1 test
Myoclonic dystonia 111 test
Myoclonic dystonia 261 test
Myoclonic epilepsy, juvenile, susceptibility to, 11 test
Myofibrillar myopathy 31 test
Myofibrillar myopathy 61 test
Myofibrillar myopathy 71 test
Myofibrillar myopathy 81 test
Myoglobinuria, acute recurrent, autosomal recessive1 test
Myopathy due to calsequestrin and SERCA1 protein overload1 test
Myopathy with abnormal lipid metabolism1 test
Myopathy, centronuclear, 21 test
Myopathy, centronuclear, 51 test
Myopathy, congenital proximal, with minicore lesions1 test
Myopathy, congenital, with respiratory insufficiency and bone fractures1 test
Myopathy, congenital, with tremor1 test
Myopathy, epilepsy, and progressive cerebral atrophy1 test
Myopathy, lactic acidosis, and sideroblastic anemia 11 test
Myopathy, lactic acidosis, and sideroblastic anemia 21 test
Myopathy, myofibrillar, 9, with early respiratory failure1 test
Myopathy, proximal, and ophthalmoplegia1 test
Myopathy, reducing body, X-linked, childhood-onset1 test
Myopathy, reducing body, X-linked, early-onset, severe1 test
Myopia 25, autosomal dominant1 test
Myosclerosis1 test
Myotonic dystrophy type 21 test
MYPN-related myopathy1 test
NAD(P)HX dehydratase deficiency1 test
Nail-patella-like renal disease1 test
Nance-Horan syndrome1 test
Nanophthalmos 21 test
NDE1-related microhydranencephaly1 test
Nemaline myopathy 101 test
Nemaline myopathy 21 test
Nemaline myopathy 51 test
Nemaline myopathy 61 test
Nemaline myopathy 71 test
Nemaline myopathy 81 test
Nemaline myopathy 91 test
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome1 test
Neonatal pseudo-hydrocephalic progeroid syndrome1 test
Neonatal-onset encephalopathy with rigidity and seizures1 test
Nephronophthisis 111 test
Nephronophthisis 121 test
Nephronophthisis 141 test
Nephronophthisis 151 test
Nephronophthisis-like nephropathy 11 test
Nephropathic cystinosis1 test
Nephrotic syndrome 151 test
Nephrotic syndrome, type 91 test
Neu-Laxova syndrome 11 test
Neural tube defect1 test
Neural tube defects, folate-sensitive1 test
Neuroblastoma, susceptibility to, 11 test
Neuroblastoma, susceptibility to, 21 test
Neurodegeneration with ataxia and late-onset optic atrophy1 test
Neurodegeneration with brain iron accumulation 51 test
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures1 test
Neurodegeneration, childhood-onset, with cerebellar atrophy1 test
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity1 test
Neurodevelopmental disorder with absent language and variable seizures1 test
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter1 test
Neurodevelopmental disorder with central hypotonia and dysmorphic facies1 test
Neurodevelopmental disorder with dysmorphic facies and variable seizures1 test
Neurodevelopmental disorder with epilepsy and hemochromatosis1 test
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1 test
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy1 test
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia1 test
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements1 test
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation1 test
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness1 test
Neurodevelopmental disorder with hypotonia, seizures, and absent language1 test
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language1 test
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia1 test
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures1 test
Neurodevelopmental disorder with impaired speech and hyperkinetic movements1 test
Neurodevelopmental disorder with involuntary movements1 test
Neurodevelopmental disorder with language impairment and behavioral abnormalities1 test
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies1 test
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity1 test
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination1 test
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy1 test
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1 test
Neurodevelopmental disorder with or without autism or seizures1 test
Neurodevelopmental disorder with or without early-onset generalized epilepsy1 test
Neurodevelopmental disorder with or without seizures and gait abnormalities1 test
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1 test
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1 test
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements1 test
Neurodevelopmental disorder with seizures and speech and walking impairment1 test
Neurodevelopmental disorder with severe motor impairment and absent language1 test
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures1 test
Neurodevelopmental disorder with visual defects and brain anomalies1 test
Neurofibromatosis-Noonan syndrome1 test
Neurogenic scapuloperoneal syndrome, Kaeser type1 test
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 11 test
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 21 test
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 131 test
Neuronal ceroid lipofuscinosis 31 test
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1 test
Neuronopathy, distal hereditary motor, autosomal recessive 51 test
Neuronopathy, distal hereditary motor, type 2C1 test
Neuronopathy, distal hereditary motor, type 2D1 test
Neuronopathy, distal hereditary motor, type 5A1 test
Neuronopathy, distal hereditary motor, type 5B1 test
Neuronopathy, distal hereditary motor, type 5C1 test
Neurooculocardiogenitourinary syndrome1 test
Neuropathy, congenital hypomyelinating, 31 test
Neuropathy, hereditary motor and sensory, type 6B1 test
Neuropathy, hereditary sensory and autonomic, type 1A1 test
Neuropathy, hereditary sensory and autonomic, type 1C1 test
Neuropathy, hereditary sensory and autonomic, type 2B1 test
Neuropathy, hereditary sensory, type 1D1 test
Neutral 1 amino acid transport defect1 test
Neutral lipid storage myopathy1 test
Neutropenia, severe congenital, 9, autosomal dominant1 test
Nicolaides-Baraitser syndrome1 test
Niemann-Pick disease, type B1 test
Niemann-Pick disease, type C11 test
Niemann-Pick disease, type C21 test
Nijmegen breakage syndrome-like disorder1 test
Non-acquired combined pituitary hormone deficiency with spine abnormalities1 test
Non-syndromic X-linked intellectual disability1 test
Nonpersistence of intestinal lactase1 test
Noonan syndrome 11 test
Noonan syndrome 101 test
Noonan syndrome 31 test
Noonan syndrome-like disorder with loose anagen hair 11 test
Nystagmus 1, congenital, X-linked1 test
O'Donnell-Luria-Rodan syndrome1 test
Obesity due to congenital leptin deficiency1 test
Occipital pachygyria and polymicrogyria1 test
Oculocerebrofacial syndrome, Kaufman type1 test
Oculocutaneous albinism type 1B1 test
Oculofaciocardiodental syndrome1 test
Ogden syndrome1 test
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1 test
Optic atrophy 121 test
Optic atrophy 31 test
Ornithine aminotransferase deficiency1 test
Ornithine carbamoyltransferase deficiency1 test
Orofacial-digital syndrome IV1 test
Orofaciodigital syndrome I1 test
Orofaciodigital syndrome type 61 test
Oroticaciduria1 test
Osteopetrosis with renal tubular acidosis1 test
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO1 test
Oto-palato-digital syndrome, type I1 test
Oxoglutaricaciduria1 test
Pancreatic agenesis 21 test
Pancreatic insufficiency-anemia-hyperostosis syndrome1 test
Papillon-Lefèvre syndrome1 test
Parkinson disease 11, autosomal dominant, susceptibility to1 test
Parkinson disease 171 test
Parkinson disease 18, autosomal dominant, susceptibility to1 test
Parkinson disease 22, autosomal dominant1 test
Parkinsonian-pyramidal syndrome1 test
Parkinsonism-dystonia 3, childhood-onset1 test
Paroxysmal nocturnal hemoglobinuria 21 test
Paroxysmal nonkinesigenic dyskinesia 11 test
PEHO-like syndrome1 test
Periventricular heterotopia with microcephaly, autosomal recessive1 test
Periventricular nodular heterotopia 71 test
Peroxisome biogenesis disorder 10B1 test
Peroxisome biogenesis disorder 11A (Zellweger)1 test
Peroxisome biogenesis disorder 12A (Zellweger)1 test
Peroxisome biogenesis disorder 13A (Zellweger)1 test
Peroxisome biogenesis disorder 14B1 test
Peroxisome biogenesis disorder 2A (Zellweger)1 test
Peroxisome biogenesis disorder 3A (Zellweger)1 test
Peroxisome biogenesis disorder 5A (Zellweger)1 test
Peroxisome biogenesis disorder 6B1 test
Peroxisome biogenesis disorder 7B1 test
Peroxisome biogenesis disorder 8B1 test
Perrault syndrome 21 test
Perrault syndrome 31 test
Perrault syndrome 41 test
Peters plus syndrome1 test
Pettigrew syndrome1 test
PGM1-congenital disorder of glycosylation1 test
PHARC syndrome1 test
Phenylketonuria1 test
Pheochromocytoma1 test
Pheochromocytoma/paraganglioma syndrome 21 test
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1 test
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1 test
Phosphoribosylpyrophosphate synthetase superactivity1 test
Phytanic acid storage disease1 test
Piebaldism1 test
Pierpont syndrome1 test
Pierson syndrome1 test
Pigmentary pallidal degeneration1 test
Pigmented nodular adrenocortical disease, primary, 31 test
Pilarowski-Bjornsson syndrome1 test
Pitt-Hopkins syndrome1 test
Pitt-Hopkins-like syndrome 21 test
Pituitary dependent hypercortisolism1 test
Pituitary hormone deficiency, combined, 11 test
Pituitary hormone deficiency, combined, 21 test
PMM2-congenital disorder of glycosylation1 test
Poirier-Bienvenu neurodevelopmental syndrome1 test
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11 test
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 21 test
Polyglucosan body myopathy type 11 test
Polyhydramnios, megalencephaly, and symptomatic epilepsy1 test
Pontocerebellar hypoplasia type 101 test
Pontocerebellar hypoplasia type 1A1 test
Pontocerebellar hypoplasia type 1B1 test
Pontocerebellar hypoplasia type 2A1 test
Pontocerebellar hypoplasia type 2B1 test
Pontocerebellar hypoplasia type 2C1 test
Pontocerebellar hypoplasia type 2D1 test
Pontocerebellar hypoplasia type 2E1 test
Pontocerebellar hypoplasia type 41 test
Pontocerebellar hypoplasia type 51 test
Pontocerebellar hypoplasia type 61 test
Pontocerebellar hypoplasia type 71 test
Pontocerebellar hypoplasia type 81 test
Pontocerebellar hypoplasia type 91 test
Pontocerebellar hypoplasia, type 111 test
Pontocerebellar hypoplasia, type 121 test
Pontocerebellar hypoplasia, type 1C1 test
Pontocerebellar hypoplasia, type 1D1 test
Pontocerebellar hypoplasia, type 1E1 test
Pontocerebellar hypoplasia, type 2F1 test
Porencephaly 21 test
Porencephaly-microcephaly-bilateral congenital cataract syndrome1 test
Porphobilinogen synthase deficiency1 test
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome1 test
Posterior column ataxia-retinitis pigmentosa syndrome1 test
Premature ovarian failure 31 test
Primary CD59 deficiency1 test
Primary ciliary dyskinesia 151 test
Primary ciliary dyskinesia 351 test
Primary ciliary dyskinesia 51 test
Primary coenzyme Q10 deficiency 81 test
Primary erythromelalgia1 test
Primary hyperoxaluria type 31 test
Primary hyperoxaluria, type I1 test
Primary hyperoxaluria, type II1 test
Primary hypomagnesemia1 test
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency1 test
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection1 test
Primrose syndrome1 test
Progressive encephalopathy with leukodystrophy due to DECR deficiency1 test
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior 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 21 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 31 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 51 test
Progressive myoclonic epilepsy type 31 test
Progressive myoclonic epilepsy type 61 test
Progressive myoclonic epilepsy type 71 test
Progressive myoclonic epilepsy type 81 test
Progressive sclerosing poliodystrophy1 test
Progressive supranuclear palsy-parkinsonism syndrome1 test
Proline dehydrogenase deficiency1 test
Propionic acidemia1 test
Prostate cancer1 test
Protoporphyria, erythropoietic, 11 test
Proximal myopathy with extrapyramidal signs1 test
PSAT deficiency1 test
Pseudo-TORCH syndrome 11 test
Pseudohypoaldosteronism type 2C1 test
Psychomotor retardation, epilepsy, and craniofacial dysmorphism1 test
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency1 test
Pulmonary hypertension, neonatal, susceptibility to1 test
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1 test
PYCR1-related de Barsy syndrome1 test
Pyknodysostosis1 test
Pyridoxal phosphate-responsive seizures1 test
Pyridoxine-dependent epilepsy1 test
Pyruvate carboxylase deficiency1 test
Pyruvate dehydrogenase E1-alpha deficiency1 test
Pyruvate dehydrogenase E1-beta deficiency1 test
Pyruvate dehydrogenase E2 deficiency1 test
Pyruvate dehydrogenase E3 deficiency1 test
Pyruvate dehydrogenase E3-binding protein deficiency1 test
Pyruvate dehydrogenase phosphatase deficiency1 test
Pyruvate kinase deficiency of red cells1 test
Radial aplasia-thrombocytopenia syndrome1 test
Rafiq syndrome1 test
Rajab interstitial lung disease with brain calcifications 11 test
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome1 test
Regressive spondylometaphyseal dysplasia1 test
Renal carnitine transport defect1 test
Renal hypomagnesemia 21 test
Renal hypomagnesemia 41 test
Renal hypomagnesemia 5 with ocular involvement1 test
Renal tubular dysgenesis of genetic origin1 test
Renal-hepatic-pancreatic dysplasia 11 test
Renpenning syndrome1 test
Reticular dysgenesis1 test
Reticulate acropigmentation of Kitamura1 test
Retinitis pigmentosa 391 test
Retinitis pigmentosa 421 test
Retinitis pigmentosa 461 test
Retinitis pigmentosa 501 test
Retinitis pigmentosa 511 test
Retinitis pigmentosa 591 test
Retinitis pigmentosa 731 test
Retinitis pigmentosa 741 test
Retinitis pigmentosa 761 test
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome1 test
RFT1-congenital disorder of glycosylation1 test
Rhabdoid tumor predisposition syndrome 11 test
Rhabdoid tumor predisposition syndrome 21 test
Rhizomelic chondrodysplasia punctata type 11 test
Rhizomelic chondrodysplasia punctata type 21 test
Rhizomelic chondrodysplasia punctata type 31 test
RIDDLE syndrome1 test
RIN2 syndrome1 test
Ritscher-Schinzel syndrome 11 test
Ritscher-Schinzel syndrome 21 test
Roberts-SC phocomelia syndrome1 test
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction1 test
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome1 test
Rothmund-Thomson syndrome type 31 test
Rotor syndrome1 test
Roussy-Lévy syndrome1 test
Rubinstein-Taybi syndrome due to CREBBP mutations1 test
Saldino-Mainzer syndrome1 test
Salla disease1 test
Sandhoff disease1 test
Schaaf-Yang syndrome1 test
Schinzel phocomelia syndrome1 test
Schizencephaly1 test
Schizophrenia1 test
Schuurs-Hoeijmakers syndrome1 test
Sclerosteosis 21 test
Seckel syndrome 11 test
Seckel syndrome 51 test
Seckel syndrome 61 test
Seizures, benign familial infantile, 21 test
Seizures, benign familial infantile, 51 test
Seizures, benign familial neonatal, 11 test
Seizures, benign familial neonatal, 21 test
Selective pituitary resistance to thyroid hormone1 test
Senior-Loken syndrome 11 test
Senior-Loken syndrome 61 test
Senior-Loken syndrome 71 test
Senior-Loken syndrome 91 test
Septo-optic dysplasia sequence1 test
Severe combined immunodeficiency due to LAT deficiency1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1 test
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency1 test
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1 test
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1 test
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1 test
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome1 test
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome1 test
Severe myoclonic epilepsy in infancy1 test
Severe X-linked myotubular myopathy1 test
Short stature-brachydactyly-obesity-global developmental delay syndrome1 test
Short stature-pituitary and cerebellar defects-small sella turcica syndrome1 test
Short-rib thoracic dysplasia 10 with or without polydactyly1 test
Shprintzen-Goldberg syndrome1 test
Shwachman-Diamond syndrome 11 test
Sialidosis type 21 test
Sialuria1 test
Sideroblastic anemia 21 test
Sideroblastic anemia 31 test
SIN3A-related intellectual disability syndrome due to a point mutation1 test
Sinoatrial node dysfunction and deafness1 test
Sjögren-Larsson syndrome1 test
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome1 test
Skraban-Deardorff syndrome1 test
SLC35A1-congenital disorder of glycosylation1 test
SLC35A2-congenital disorder of glycosylation1 test
SLC39A8-CDG1 test
Smith-Lemli-Opitz syndrome1 test
Smith-Magenis syndrome1 test
Smith-McCort dysplasia 11 test
Snijders Blok-Campeau syndrome1 test
Sotos syndrome1 test
Spastic ataxia 11 test
Spastic ataxia 21 test
Spastic ataxia 41 test
Spastic ataxia 51 test
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy1 test
Spastic paraplegia 80, autosomal dominant1 test
Spastic paraplegia 81, autosomal recessive1 test
Spastic paraplegia 82, autosomal recessive1 test
Spastic paraplegia 85, autosomal recessive1 test
Spastic paraplegia, intellectual disability, nystagmus, and obesity1 test
Spastic paraplegia-severe developmental delay-epilepsy syndrome1 test
Spastic tetraplegia and axial hypotonia, progressive1 test
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome1 test
Spermatogenic failure, Y-linked, 21 test
Sphingolipid activator protein 1 deficiency1 test
Spinal muscular atrophy with congenital bone fractures 21 test
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant1 test
Spinocerebellar ataxia 451 test
Spinocerebellar ataxia 471 test
Spinocerebellar ataxia 481 test
Spinocerebellar ataxia 491 test
Spinocerebellar ataxia type 111 test
Spinocerebellar ataxia type 131 test
Spinocerebellar ataxia type 141 test
Spinocerebellar ataxia type 19/221 test
Spinocerebellar ataxia type 211 test
Spinocerebellar ataxia type 231 test
Spinocerebellar ataxia type 271 test
Spinocerebellar ataxia type 281 test
Spinocerebellar ataxia type 341 test
Spinocerebellar ataxia type 351 test
Spinocerebellar ataxia type 371 test
Spinocerebellar ataxia type 381 test
Spinocerebellar ataxia type 421 test
Spinocerebellar ataxia type 51 test
Spinocerebellar ataxia, autosomal recessive 231 test
Spinocerebellar ataxia, autosomal recessive 241 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 11 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 31 test
Spondylocostal dysostosis 1, autosomal recessive1 test
Spondyloepimetaphyseal dysplasia with joint laxity, type 31 test
Spondyloepimetaphyseal dysplasia, Bieganski type1 test
Spondyloepiphyseal dysplasia congenita1 test
Spongy degeneration of central nervous system1 test
SSR4-congenital disorder of glycosylation1 test
Stankiewicz-Isidor syndrome1 test
Steinert myotonic dystrophy syndrome1 test
Striatal degeneration, autosomal dominant 21 test
Stromme syndrome1 test
STT3A-congenital disorder of glycosylation1 test
Succinate-semialdehyde dehydrogenase deficiency1 test
Succinyl-CoA acetoacetate transferase deficiency1 test
Sulfite oxidase deficiency1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B11 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1 test
Susceptibility to HIV infection1 test
Sweeney-Cox syndrome1 test
Symmetrical dyschromatosis of extremities1 test
Syndromic X-linked intellectual disability 141 test
Syndromic X-linked intellectual disability 941 test
Syndromic X-linked intellectual disability Claes-Jensen type1 test
Syndromic X-linked intellectual disability Nascimento type1 test
Syndromic X-linked intellectual disability Raymond type1 test
Syndromic X-linked intellectual disability Siderius type1 test
Syndromic X-linked intellectual disability Snyder type1 test
Systemic lupus erythematosus1 test
Tall stature-scoliosis-macrodactyly of the great toes syndrome1 test
Tangier disease1 test
TARP syndrome1 test
Tatton-Brown-Rahman overgrowth syndrome1 test
Tay-Sachs disease1 test
Tay-Sachs disease, variant AB1 test
Telangiectasia, hereditary hemorrhagic, type 21 test
Temple-Baraitser syndrome1 test
Temtamy preaxial brachydactyly syndrome1 test
Temtamy syndrome1 test
Tetralogy of Fallot1 test
Thrombocytopenia 41 test
Thrombophilia due to activated protein C resistance1 test
Thrombophilia due to thrombin defect1 test
Thyroid hormone metabolism, abnormal 11 test
Tibial muscular dystrophy1 test
Timothy syndrome1 test
TMEM165-congenital disorder of glycosylation1 test
TMEM199-CDG1 test
Torsion dystonia 21 test
Torsion dystonia 41 test
Torsion dystonia 61 test
Townes-Brocks syndrome 11 test
Treacher Collins syndrome 11 test
Treacher Collins syndrome 21 test
Treacher Collins syndrome 31 test
Tremor, hereditary essential, 11 test
Tremor, hereditary essential, 51 test
Tricho-dento-osseous syndrome1 test
Trichorhinophalangeal syndrome, type III1 test
Trichothiodystrophy 1, photosensitive1 test
Trichothiodystrophy 5, nonphotosensitive1 test
Triglyceride storage disease with ichthyosis1 test
Triosephosphate isomerase deficiency1 test
Troyer syndrome1 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Tumor predisposition syndrome 31 test
Type 2 diabetes mellitus1 test
Tyrosinemia type I1 test
Tyrosinemia type III1 test
Ulerythema ophryogenesis1 test
Ullrich congenital muscular dystrophy 1A1 test
Ulnar-mammary syndrome1 test
Unverricht-Lundborg syndrome1 test
Urocanate hydratase deficiency1 test
Uruguay Faciocardiomusculoskeletal syndrome1 test
Usher syndrome type 1F1 test
Usher syndrome type 2C1 test
UV-sensitive syndrome 21 test
Uveal coloboma-cleft lip and palate-intellectual disability1 test
Vanishing white matter disease1 test
Variegate porphyria1 test
Ververi-Brady syndrome1 test
Very long chain acyl-CoA dehydrogenase deficiency1 test
Vesicoureteral reflux 21 test
Vici syndrome1 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 2E1 test
Warburg micro syndrome 11 test
Warburg micro syndrome 31 test
Warburg micro syndrome 41 test
Weaver syndrome1 test
Weill-Marchesani syndrome 11 test
Welander distal myopathy1 test
Wieacker-Wolff syndrome, female-restricted1 test
Wiedemann-Steiner syndrome1 test
Wilms tumor 11 test
Wilson disease1 test
Wolff-Parkinson-White pattern1 test
Wolfram syndrome 21 test
Woodhouse-Sakati syndrome1 test
Wrinkly skin syndrome1 test
X-linked chondrodysplasia punctata 11 test
X-linked cone-rod dystrophy 31 test
X-linked distal spinal muscular atrophy type 31 test
X-linked dystonia-parkinsonism1 test
X-linked Emery-Dreifuss muscular dystrophy1 test
X-linked hydrocephalus syndrome1 test
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia1 test
X-linked intellectual disability Cabezas type1 test
X-linked intellectual disability, Cantagrel type1 test
X-linked intellectual disability, Stocco dos Santos type1 test
X-linked intellectual disability-cerebellar hypoplasia syndrome1 test
X-linked myopathy with excessive autophagy1 test
X-linked myopathy with postural muscle atrophy1 test
X-linked Opitz G/BBB syndrome1 test
X-linked progressive cerebellar ataxia1 test
X-linked reticulate pigmentary disorder1 test
X-linked scapuloperoneal muscular dystrophy1 test
X-linked sideroblastic anemia 11 test
X-linked sideroblastic anemia with ataxia1 test
Xeroderma pigmentosum, group G1 test
ZTTK syndrome1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Custom Deletion/Duplication Testing
Prenatal testing
Custom Sequence Analysis
Carrier testing
Genetic counseling
Maternal cell contamination study (MCC)
Mutation Confirmation
Uniparental Disomy (UPD) Testing
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: 99D2049715, Expiration date: 2027-04-02
CAP, Number: 8005167, Expiration date: 2027-01-21
CAP, Number: 8005167/ ISO15189, Expiration date: 2028-01-06
Maryland State License, Number: 3839
Pennsylvania State License, Number: 34579, Expiration date: 2026-08-15
Rhode Island State License, Number: LCO01764, Expiration date: 2025-12-30

Participation in external programs

Data exchange Programs

Mutation-specific Databases

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.