Intellectual Disability Panel
At a Glance
Gamma-aminobutyric acid transaminase deficiency;
3-methylcrotonyl-CoA carboxylase 2 deficiency;
3M syndrome 1
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Gamma-aminobutyric acid transaminase deficiency
3-methylcrotonyl-CoA carboxylase 2 deficiency
3M syndrome 1
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
ABCD syndrome
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
ALG11-congenital disorder of glycosylation
Aarskog syndrome
Achromatopsia 3
Acquired hemoglobin H disease
Acrocallosal syndrome
Adenosine kinase deficiency
Adenylosuccinate lyase deficiency
Adrenoleukodystrophy
Advanced sleep phase syndrome 1
Aicardi-Goutieres syndrome 2
Aicardi-Goutieres syndrome 3
Aicardi-Goutieres syndrome 4
Aicardi-Goutieres syndrome 5
Aicardi-Goutieres syndrome 6
Alacrima, achalasia, and intellectual disability syndrome
Alazami-Yuan syndrome
Alexander disease
Allan-Herndon-Dudley syndrome
Alpha-N-acetylgalactosaminidase deficiency type 1
Alzheimer disease 9
Amelocerebrohypohidrotic syndrome
Amish lethal microcephaly
Amyotrophic lateral sclerosis type 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Angelman syndrome
Anophthalmia/microphthalmia-esophageal atresia syndrome
Anterior segment dysgenesis 7
Antigen in Cartwright blood group system
Anxiety
Arrhythmogenic right ventricular dysplasia 13
Asperger syndrome, X-linked, susceptibility to, 1
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
Autism spectrum disorder due to AUTS2 deficiency
Autism, susceptibility to, 15
Autism, susceptibility to, 16
Autism, susceptibility to, 17
Autism, susceptibility to, 5
Autism, susceptibility to, X-linked 2
Autism, susceptibility to, X-linked 3
Autism, susceptibility to, X-linked 4
Autosomal dominant Robinow syndrome 1
Autosomal dominant Robinow syndrome 3
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Autosomal dominant non-syndromic intellectual disability
Autosomal dominant nonsyndromic hearing loss 27
Autosomal dominant pseudohypoaldosteronism type 1
Autosomal dominant slowed nerve conduction velocity
Autosomal recessive Kenny-Caffey syndrome
Autosomal recessive Robinow syndrome
Autosomal recessive ataxia, Beauce type
Autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal recessive limb-girdle muscular dystrophy type 2I
Autosomal recessive limb-girdle muscular dystrophy type 2T
Autosomal recessive limb-girdle muscular dystrophy type 2U
Autosomal recessive nonsyndromic hearing loss 21
Autosomal recessive nonsyndromic hearing loss 28
Autosomal recessive nonsyndromic hearing loss 48
Autosomal recessive omodysplasia
Autosomal recessive proximal renal tubular acidosis
Autosomal recessive spinocerebellar ataxia 12
Autosomal recessive spinocerebellar ataxia 18
Axenfeld-Rieger syndrome type 1
Axenfeld-Rieger syndrome type 3
BENTA disease
Baraitser-Winter syndrome 1
Baraitser-winter syndrome 2
Bardet-Biedl syndrome 13
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 4
Bardet-Biedl syndrome 6
Barrett esophagus
Bilateral frontoparietal polymicrogyria
Birk-Barel syndrome
Bleeding disorder, platelet-type, 24
Blepharophimosis-impaired intellectual development syndrome
Borjeson-Forssman-Lehmann syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
Brain small vessel disease 1 with or without ocular anomalies
Branched-chain keto acid dehydrogenase kinase deficiency
Branchiooculofacial syndrome
Brugada syndrome 4
Brunner syndrome
CEDNIK syndrome
CHIME syndrome
COACH syndrome 2
Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
Cardiac, facial, and digital anomalies with developmental delay
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Cardiofaciocutaneous syndrome 2
Carnitine palmitoyl transferase II deficiency, neonatal form
Celiac disease, susceptibility to, 4
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Cerebellar atrophy, developmental delay, and seizures
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
Cerebral folate transport deficiency
Cerebral palsy, spastic quadriplegic, 2
Cerebroretinal microangiopathy with calcifications and cysts 1
Cernunnos-XLF deficiency
Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
Charcot-marie-tooth disease, axonal, type 2DD
Child syndrome
Childhood apraxia of speech
Cholestanol storage disease
Cholestasis-pigmentary retinopathy-cleft palate syndrome
Christianson syndrome
Chromosome 1p32-p31 deletion syndrome
Chromosome 2q32-q33 deletion syndrome
Ciliary dyskinesia, primary, 44
Citrullinemia, type II, adult-onset
Clark-Baraitser syndrome
Classic dopamine transporter deficiency syndrome
Classic homocystinuria
Cleft lip/palate-ectodermal dysplasia syndrome
Clubfoot
Cobblestone lissencephaly without muscular or ocular involvement
Coffin-Siris syndrome 1
Coffin-Siris syndrome 7
Coffin-Siris syndrome 8
Cohen syndrome
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Combined immunodeficiency due to DOCK8 deficiency
Combined immunodeficiency due to LRBA deficiency
Complex cortical dysplasia with other brain malformations 2
Complex cortical dysplasia with other brain malformations 7
Cone-rod dystrophy 7
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Congenital disorder of glycosylation, type IIr
Congenital muscular dystrophy due to integrin alpha-7 deficiency
Congenital muscular hypertrophy-cerebral syndrome
Congenital myasthenic syndrome 18
Congenital nongoitrous hypothyroidism 6
Congenital stationary night blindness 1C
Conotruncal heart malformations
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 3
Cornelia de Lange syndrome 4
Cornelia de Lange syndrome 5
Corpus callosum agenesis-abnormal genitalia syndrome
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Cortisone reductase deficiency 2
Costello syndrome
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
Craniofacial dysplasia - osteopenia syndrome
Craniosynostosis 6
Creatine transporter deficiency
DEGCAGS syndrome
DYRK1A-related intellectual disability syndrome
Danon disease
DeSanto-Shinawi syndrome due to WAC point mutation
Deafness dystonia syndrome
Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of cytochrome-b5 reductase
Deficiency of guanidinoacetate methyltransferase
Deficiency of iodide peroxidase
Deficiency of steroid 11-beta-monooxygenase
Dent disease type 2
Developmental and epileptic encephalopathy 101
Developmental and epileptic encephalopathy 89
Developmental and epileptic encephalopathy 94
Developmental and epileptic encephalopathy, 12
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 24
Developmental and epileptic encephalopathy, 26
Developmental and epileptic encephalopathy, 27
Developmental and epileptic encephalopathy, 31A
Developmental and epileptic encephalopathy, 33
Developmental and epileptic encephalopathy, 34
Developmental and epileptic encephalopathy, 36
Developmental and epileptic encephalopathy, 39
Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy, 42
Developmental and epileptic encephalopathy, 43
Developmental and epileptic encephalopathy, 54
Developmental and epileptic encephalopathy, 59
Developmental and epileptic encephalopathy, 67
Developmental and epileptic encephalopathy, 69
Developmental and epileptic encephalopathy, 79
Developmental and epileptic encephalopathy, 8
Developmental and epileptic encephalopathy, 9
Developmental delay with autism spectrum disorder and gait instability
Developmental delay with or without intellectual impairment or behavioral abnormalities
Developmental delay with variable intellectual impairment and behavioral abnormalities
Dias-Logan syndrome
Dicarboxylic aminoaciduria
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Dihydropyrimidine dehydrogenase deficiency
Donnai-Barrow syndrome
Dyggve-Melchior-Clausen syndrome
Dyskeratosis congenita, X-linked
Dyskeratosis congenita, autosomal dominant 3
Dyskinesia with orofacial involvement, autosomal dominant
Dyskinesia with orofacial involvement, autosomal recessive
Dystonia 9
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
EAST syndrome
Early-onset Parkinson disease 20
Early-onset parkinsonism-intellectual disability syndrome
Ectopia lentis 1, isolated, autosomal dominant
Elsahy-Waters syndrome
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
Epilepsy, childhood absence, susceptibility to, 6
Epilepsy, progressive myoclonic, 1B
Episodic ataxia, type 9
Epsilon-trimethyllysine hydroxylase deficiency
Exostoses, multiple, type 1
Exudative vitreoretinopathy 2, X-linked
FG syndrome 4
FRAXE
Familial cancer of breast
Familial dysfibrinogenemia
Familial meningioma
Familial temporal lobe epilepsy 7
Fanconi anemia complementation group B
Fanconi renotubular syndrome 1
Farber lipogranulomatosis
Feingold syndrome type 1
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
Floating-Harbor syndrome
Focal dermal hypoplasia
Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 2
Focal segmental glomerulosclerosis 6
Foveal hypoplasia 1
Fragile X-associated tremor/ataxia syndrome
Fraser syndrome 3
Frontonasal dysplasia with alopecia and genital anomaly
Gabriele de Vries syndrome
Galloway-Mowat syndrome 8
Genitopatellar syndrome
Gillespie syndrome
Global developmental delay with or without impaired intellectual development
Glutamate pyruvate transaminase 2 deficiency
Gluthathione peroxidase deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Glycosylphosphatidylinositol biosynthesis defect 16
Goldberg-Shprintzen syndrome
Gorlin syndrome
Griscelli syndrome type 1
Growth delay due to insulin-like growth factor I resistance
Growth delay due to insulin-like growth factor type 1 deficiency
HSD10 mitochondrial disease
Hajdu-Cheney syndrome
Hearing loss, autosomal dominant 71
Hearing loss, autosomal dominant 75
Heimler syndrome 1
Heimler syndrome 2
Heinz body anemia
Hepatitis C virus, susceptibility to
Hepatocellular carcinoma
Hereditary insensitivity to pain with anhidrosis
Hereditary leiomyomatosis and renal cell cancer
Hereditary spastic paraplegia 15
Hereditary spastic paraplegia 2
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 4
Hereditary spastic paraplegia 43
Hereditary spastic paraplegia 47
Hereditary spastic paraplegia 50
Hereditary spastic paraplegia 55
Hereditary spastic paraplegia 6
Hereditary spastic paraplegia 9A
Hermansky-Pudlak syndrome 1
Hermansky-Pudlak syndrome 2
Hermansky-Pudlak syndrome 4
Hermansky-Pudlak syndrome 5
Hermansky-Pudlak syndrome 6
Hermansky-Pudlak syndrome 7
Hermansky-Pudlak syndrome 8
Hermansky-Pudlak syndrome 9
Heterotaxy, visceral, 1, X-linked
Heyn-Sproul-Jackson syndrome
Hirschsprung disease, susceptibility to, 3
Hogue-Janssens syndrome 1
Holoprosencephaly 11
Holoprosencephaly 3
Holoprosencephaly 4
Holoprosencephaly 5
Houge-Janssens syndrome 2
Human HOXA1 syndromes
Hydrocephalus, nonsyndromic, autosomal recessive 2
Hyperekplexia 2
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperphosphatasia with intellectual disability syndrome 1
Hyperphosphatasia with intellectual disability syndrome 2
Hyperphosphatasia with intellectual disability syndrome 3
Hypertrophic cardiomyopathy 18
Hypogonadotropic hypogonadism 5 with or without anosmia
Hypokalemic periodic paralysis, type 2
Hypomyelinating leukodystrophy 10
Hypomyelinating leukodystrophy 3
Hypomyelinating leukodystrophy 4
Hypomyelinating leukodystrophy 6
Hypomyelination and Congenital Cataract
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Hypotonia, ataxia, and delayed development syndrome
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
IFAP syndrome 1, with or without BRESHECK syndrome
Ichthyosis prematurity syndrome
Immunodeficiency 75
Immunodeficiency 95
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Inborn glycerol kinase deficiency
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Infantile nephronophthisis
Infantile neuroaxonal dystrophy
Intellectual developmental disorder 59
Intellectual developmental disorder 60 with seizures
Intellectual developmental disorder 61
Intellectual developmental disorder 62
Intellectual developmental disorder with autism and macrocephaly
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
Intellectual developmental disorder, autosomal dominant 64
Intellectual developmental disorder, autosomal dominant 65
Intellectual developmental disorder, autosomal dominant 67
Intellectual developmental disorder, autosomal recessive 76
Intellectual disability, FRA12A type
Intellectual disability, X-linked 1
Intellectual disability, X-linked 102
Intellectual disability, X-linked 104
Intellectual disability, X-linked 19
Intellectual disability, X-linked 21
Intellectual disability, X-linked 30
Intellectual disability, X-linked 41
Intellectual disability, X-linked 49
Intellectual disability, X-linked 58
Intellectual disability, X-linked 63
Intellectual disability, X-linked 9
Intellectual disability, X-linked 90
Intellectual disability, X-linked 93
Intellectual disability, X-linked 96
Intellectual disability, X-linked 97
Intellectual disability, X-linked 99, syndromic, female-restricted
Intellectual disability, X-linked syndromic, Turner type
Intellectual disability, X-linked, syndromic, 35
Intellectual disability, X-linked, syndromic, Bain type
Intellectual disability, X-linked, syndromic, Houge type
Intellectual disability, X-linked, with panhypopituitarism
Intellectual disability, anterior maxillary protrusion, and strabismus
Intellectual disability, autosomal dominant 1
Intellectual disability, autosomal dominant 11
Intellectual disability, autosomal dominant 13
Intellectual disability, autosomal dominant 14
Intellectual disability, autosomal dominant 20
Intellectual disability, autosomal dominant 22
Intellectual disability, autosomal dominant 27
Intellectual disability, autosomal dominant 29
Intellectual disability, autosomal dominant 3
Intellectual disability, autosomal dominant 30
Intellectual disability, autosomal dominant 33
Intellectual disability, autosomal dominant 34
Intellectual disability, autosomal dominant 39
Intellectual disability, autosomal dominant 40
Intellectual disability, autosomal dominant 41
Intellectual disability, autosomal dominant 42
Intellectual disability, autosomal dominant 43
Intellectual disability, autosomal dominant 45
Intellectual disability, autosomal dominant 46
Intellectual disability, autosomal dominant 47
Intellectual disability, autosomal dominant 48
Intellectual disability, autosomal dominant 5
Intellectual disability, autosomal dominant 50
Intellectual disability, autosomal dominant 51
Intellectual disability, autosomal dominant 52
Intellectual disability, autosomal dominant 53
Intellectual disability, autosomal dominant 54
Intellectual disability, autosomal dominant 55, with seizures
Intellectual disability, autosomal dominant 56
Intellectual disability, autosomal dominant 57
Intellectual disability, autosomal dominant 58
Intellectual disability, autosomal recessive 1
Intellectual disability, autosomal recessive 12
Intellectual disability, autosomal recessive 13
Intellectual disability, autosomal recessive 14
Intellectual disability, autosomal recessive 18
Intellectual disability, autosomal recessive 2
Intellectual disability, autosomal recessive 27
Intellectual disability, autosomal recessive 3
Intellectual disability, autosomal recessive 34
Intellectual disability, autosomal recessive 42
Intellectual disability, autosomal recessive 43
Intellectual disability, autosomal recessive 44
Intellectual disability, autosomal recessive 46
Intellectual disability, autosomal recessive 47
Intellectual disability, autosomal recessive 5
Intellectual disability, autosomal recessive 50
Intellectual disability, autosomal recessive 51
Intellectual disability, autosomal recessive 52
Intellectual disability, autosomal recessive 53
Intellectual disability, autosomal recessive 54
Intellectual disability, autosomal recessive 56
Intellectual disability, autosomal recessive 57
Intellectual disability, autosomal recessive 58
Intellectual disability, autosomal recessive 59
Intellectual disability, autosomal recessive 6
Intellectual disability, autosomal recessive 60
Intellectual disability, autosomal recessive 61
Intellectual disability, autosomal recessive 65
Intellectual disability, autosomal recessive 66
Intellectual disability, autosomal recessive 7
Intellectual disability-epilepsy-extrapyramidal syndrome
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Intellectual disability-strabismus syndrome
Jackson-Weiss syndrome
Jawad syndrome
Johanson-Blizzard syndrome
Joubert syndrome 1
Joubert syndrome 13
Joubert syndrome 14
Joubert syndrome 15
Joubert syndrome 16
Joubert syndrome 17
Joubert syndrome 2
Joubert syndrome 21
Joubert syndrome 22
Joubert syndrome 24
Joubert syndrome 27
Joubert syndrome 28
Joubert syndrome 3
Joubert syndrome 5
Joubert syndrome 8
Juvenile polyposis syndrome
KBG syndrome
Kabuki syndrome 1
Kabuki syndrome 2
Kahrizi syndrome
Karyomegalic interstitial nephritis
Keipert syndrome
Kleefstra syndrome 1
Kleefstra syndrome 2
Koolen-de Vries syndrome
Kufor-Rakeb syndrome
L-ferritin deficiency
LEOPARD syndrome 3
Lamb-Shaffer syndrome
Landau-Kleffner syndrome
Lathosterolosis
Left ventricular noncompaction 7
Lesch-Nyhan syndrome
Lethal polymalformative syndrome, Boissel type
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Levy-Hollister syndrome
Limb-girdle muscular dystrophy due to POMK deficiency
Linear skin defects with multiple congenital anomalies 1
Lissencephaly 6 with microcephaly
Lissencephaly 8
Lissencephaly 9 with complex brainstem malformation
Lissencephaly due to LIS1 mutation
Lissencephaly due to TUBA1A mutation
Lissencephaly type 1 due to doublecortin gene mutation
Lung cancer
Lung disease, immunodeficiency, and chromosome breakage syndrome;
Luscan-Lumish syndrome
Lymphatic malformation 3
Lysinuric protein intolerance
MEDNIK syndrome
MEGF10-related myopathy
MEHMO syndrome
MGAT2-congenital disorder of glycosylation
Macrocephaly, acquired, with impaired intellectual development
Macrocephaly-developmental delay syndrome
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Malan overgrowth syndrome
Malignant tumor of prostate
Mandibulofacial dysostosis-microcephaly syndrome
Marinesco-Sjögren syndrome
Marshall-Smith syndrome
Martsolf syndrome 1
Matthew-Wood syndrome
Maturity-onset diabetes of the young type 2
McCune-Albright syndrome
Meckel syndrome, type 1
Meckel syndrome, type 10
Meckel syndrome, type 11
Meckel syndrome, type 4
Meckel syndrome, type 5
Medulloblastoma
Megalencephalic leukoencephalopathy with subcortical cysts 1
Megalencephalic leukoencephalopathy with subcortical cysts 2A
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Meier-Gorlin syndrome 1
Menke-Hennekam syndrome 2
Methylcobalamin deficiency type cblG
Methylmalonic acidemia with homocystinuria, type cblX
Microcephalic osteodysplastic primordial dwarfism type II
Microcephalic primordial dwarfism due to RTTN deficiency
Microcephalic primordial dwarfism due to ZNF335 deficiency
Microcephaly 1, primary, autosomal recessive
Microcephaly 14, primary, autosomal recessive
Microcephaly 15, primary, autosomal recessive
Microcephaly 16, primary, autosomal recessive
Microcephaly 17, primary, autosomal recessive
Microcephaly 18, primary, autosomal dominant
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
Microcephaly 20, primary, autosomal recessive
Microcephaly 22, primary, autosomal recessive
Microcephaly 3, primary, autosomal recessive
Microcephaly 4, primary, autosomal recessive
Microcephaly 5, primary, autosomal recessive
Microcephaly 6, primary, autosomal recessive
Microcephaly 7, primary, autosomal recessive
Microcephaly 8, primary, autosomal recessive
Microcephaly and chorioretinopathy 1
Microcephaly and chorioretinopathy 2
Microcephaly and chorioretinopathy 3
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Microcephaly, epilepsy, and diabetes syndrome 1
Microcephaly, short stature, and impaired glucose metabolism 1
Microcephaly-capillary malformation syndrome
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Microcephaly-thin corpus callosum-intellectual disability syndrome
Microphthalmia, syndromic 1
Microvascular complications of diabetes, susceptibility to, 5
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Miller Dieker syndrome
Mitochondrial complex 1 deficiency, nuclear type 12
Mitochondrial complex II deficiency, nuclear type 1
Mitochondrial complex III deficiency nuclear type 1
Mowat-Wilson syndrome
Mucopolysaccharidosis, MPS-II
Multiple acyl-CoA dehydrogenase deficiency
Multiple congenital anomalies-hypotonia-seizures syndrome 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2
Multiple sclerosis, susceptibility to
Muscle AMP deaminase deficiency
Muscular dystrophy, limb-girdle, autosomal recessive 23
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Myelodysplastic syndrome
Myoclonic-astatic epilepsy
Myopathy, myofibrillar, 9, with early respiratory failure
Myopia 25, autosomal dominant
NDE1-related microhydranencephaly
Nail-patella-like renal disease
Nance-Horan syndrome
Nanophthalmos 2
Neonatal pseudo-hydrocephalic progeroid syndrome
Nephronophthisis 11
Nephronophthisis 12
Nephronophthisis 14
Neurodegeneration with brain iron accumulation 5
Neurodevelopmental disorder with central hypotonia and dysmorphic facies
Neurodevelopmental disorder with dysmorphic facies and variable seizures
Neurodevelopmental disorder with epilepsy and hemochromatosis
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
Neurodevelopmental disorder with hypotonia, seizures, and absent language
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
Neurodevelopmental disorder with involuntary movements
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
Neurodevelopmental disorder with or without autism or seizures
Neurodevelopmental disorder with or without early-onset generalized epilepsy
Neurodevelopmental disorder with or without seizures and gait abnormalities
Neurodevelopmental disorder with poor language and loss of hand skills
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
Neurofibromatosis-Noonan syndrome
Neuronal ceroid lipofuscinosis 1
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Nicolaides-Baraitser syndrome
Niemann-Pick disease, type B
Non-ketotic hyperglycinemia
Non-syndromic X-linked intellectual disability
Nonpersistence of intestinal lactase
Noonan syndrome 1
Noonan syndrome 10
Noonan syndrome 3
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO
Obesity due to congenital leptin deficiency
Occipital pachygyria and polymicrogyria
Oculocerebrofacial syndrome, Kaufman type
Oculocutaneous albinism type 1B
Oculofaciocardiodental syndrome
Ogden syndrome
Ornithine carbamoyltransferase deficiency
Orofacial-digital syndrome IV
Orofaciodigital syndrome I
Orofaciodigital syndrome type 6
Osteopetrosis with renal tubular acidosis
Oto-palato-digital syndrome, type I
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
PYCR1-related de Barsy syndrome
Parkinson disease 11, autosomal dominant, susceptibility to
Periventricular heterotopia with microcephaly, autosomal recessive
Peroxisome biogenesis disorder 10B
Peroxisome biogenesis disorder 11A (Zellweger)
Peroxisome biogenesis disorder 12A (Zellweger)
Peroxisome biogenesis disorder 13A (Zellweger)
Peroxisome biogenesis disorder 14B
Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder 5A (Zellweger)
Peroxisome biogenesis disorder 6B
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 8B
Pettigrew syndrome
Phenylketonuria
Phosphoribosylpyrophosphate synthetase superactivity
Piebaldism
Pierpont syndrome
Pigmentary pallidal degeneration
Pilarowski-Bjornsson syndrome
Pitt-Hopkins syndrome
Pitt-Hopkins-like syndrome 2
Pontocerebellar hypoplasia type 10
Pontocerebellar hypoplasia type 1A
Pontocerebellar hypoplasia type 1B
Pontocerebellar hypoplasia type 2A
Pontocerebellar hypoplasia type 2B
Pontocerebellar hypoplasia type 2C
Pontocerebellar hypoplasia type 2D
Pontocerebellar hypoplasia type 2E
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 6
Pontocerebellar hypoplasia type 7
Pontocerebellar hypoplasia type 8
Pontocerebellar hypoplasia type 9
Pontocerebellar hypoplasia, type 11
Pontocerebellar hypoplasia, type 12
Pontocerebellar hypoplasia, type 1D
Pontocerebellar hypoplasia, type 2F
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Posterior column ataxia-retinitis pigmentosa syndrome
Premature ovarian failure 3
Primary ciliary dyskinesia 15
Primary ciliary dyskinesia 35
Primary ciliary dyskinesia 5
Primary erythromelalgia
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Primrose syndrome
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Progressive myoclonic epilepsy type 7
Proline dehydrogenase deficiency
Pseudo-TORCH syndrome 1
Psychomotor retardation, epilepsy, and craniofacial dysmorphism
Pyridoxine-dependent epilepsy
Pyruvate dehydrogenase E1-alpha deficiency
RIDDLE syndrome
Rafiq syndrome
Renal tubular dysgenesis of genetic origin
Renal-hepatic-pancreatic dysplasia 1
Renpenning syndrome
Retinitis pigmentosa 39
Retinitis pigmentosa 76
Rett syndrome, congenital variant
Rhabdoid tumor predisposition syndrome 1
Rhabdoid tumor predisposition syndrome 2
Rhizomelic chondrodysplasia punctata type 1
Ritscher-Schinzel syndrome 2
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Rothmund-Thomson syndrome, type 3
Rotor syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
SIN3A-related intellectual disability syndrome due to a point mutation
SLC35A2-congenital disorder of glycosylation
Schaaf-Yang syndrome
Schizencephaly
Schizophrenia
Schuurs-Hoeijmakers syndrome
Seckel syndrome 1
Seckel syndrome 5
Seckel syndrome 6
Seizures, benign familial infantile, 5
Seizures, benign familial neonatal, 1
Seizures, benign familial neonatal, 2
Selective pituitary resistance to thyroid hormone
Senior-Loken syndrome 1
Senior-Loken syndrome 7
Severe X-linked myotubular myopathy
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Severe myoclonic epilepsy in infancy
Sinoatrial node dysfunction and deafness
Skraban-Deardorff syndrome
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Smith-McCort dysplasia 1
Snijders Blok-Campeau syndrome
Sotos syndrome
Spermatogenic failure, Y-linked, 2
Spinocerebellar ataxia type 13
Spinocerebellar ataxia type 19/22
Spinocerebellar ataxia type 34
Spinocerebellar ataxia type 40
Spinocerebellar ataxia type 42
Spondyloepimetaphyseal dysplasia with joint laxity, type 3
Stankiewicz-Isidor syndrome
Stromme syndrome
Succinate-semialdehyde dehydrogenase deficiency
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Susceptibility to HIV infection
Syndromic X-linked intellectual disability 14
Syndromic X-linked intellectual disability 94
Syndromic X-linked intellectual disability Claes-Jensen type
Syndromic X-linked intellectual disability Nascimento type
Syndromic X-linked intellectual disability Raymond type
Syndromic X-linked intellectual disability Siderius type
Syndromic X-linked intellectual disability Snyder type
Systemic lupus erythematosus
TARP syndrome
Tatton-Brown-Rahman overgrowth syndrome
Temtamy syndrome
Tetralogy of Fallot
Thrombophilia due to thrombin defect
Timothy syndrome
Townes-Brocks syndrome 1
Treacher Collins syndrome 1
Treacher Collins syndrome 2
Treacher Collins syndrome 3
Tricho-dento-osseous syndrome
Tuberous sclerosis 1
Tuberous sclerosis 2
Tumor predisposition syndrome 3
Ulerythema ophryogenesis
Ulnar-mammary syndrome
Urocanate hydratase deficiency
Usher syndrome type 1F
Vanishing white matter disease
Variegate porphyria
Ververi-Brady syndrome
Vesicoureteral reflux 2
Vitamin D-dependent rickets type II with alopecia
Waardenburg syndrome type 1
Waardenburg syndrome type 2E
Warburg micro syndrome 1
Warburg micro syndrome 3
Warburg micro syndrome 4
Warsaw breakage syndrome
Weaver syndrome
Wieacker-Wolff syndrome, female-restricted
Wilms tumor 1
Woodhouse-Sakati syndrome
Wrinkly skin syndrome
X-linked Opitz G/BBB syndrome
X-linked cone-rod dystrophy 3
X-linked distal spinal muscular atrophy type 3
X-linked hydrocephalus syndrome
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked intellectual disability Cabezas type
X-linked intellectual disability, Cantagrel type
X-linked intellectual disability, Stocco dos Santos type
X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked reticulate pigmentary disorder
ABAT (16p13.2);
ABCA7 (19p13.3);
ABCD1 (Xq28);
ACE (17q23.3);
ACHE (7q22.1)
more...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
This panel should be performed in all individuals suspected of …
Ordering Information
Specimen Source:
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Amniotic fluid
Bone marrow
Buccal swab
Cell culture
Chorionic villi
Dried blood spot (DBS) card
Fetal blood
Fibroblasts
Isolated DNA
Peripheral (whole) blood
Product of conception (POC)
Saliva
Who can order: Help
Genetic Counselor
Health Care Provider
Licensed Dentist
Licensed Physician
Nurse Practitioner
Physician Assistant
Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service:
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Custom mutation-specific/Carrier testing
Informed consent required:
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Yes
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code,
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 777
Condition/Phenotype
Identifier
Test Targets
Genes
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Total genes: 770
Gene
Associated Condition
Germline or Somatic
Allele (Lab-provided)
Variant in NCBI
Methodology
Total methods: 3
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot of FMR1
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Clinical validity:
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This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk …
This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.
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Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Will the lab re-contact the ordering physician if variant interpretation changes?
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Research:
Is research allowed on the sample after clinical testing is complete?
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Recommended fields not provided:
Clinical utility,
Target population,
Sample negative report,
Sample positive report
Technical Information
Availability:
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Tests performed
Analytical Validity:
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CENTOGENE has established stringent quality criteria and validation processes for variants detected by NGS. Variants with low sequenci ng quality and/or unclear zyg osity are confirmed by orthogonal methods. Consequently, a specificity of > 99.9% for all reported variants is warranted. Mitochondrial variants are reported for heteroplasmy levels of 15% …
CENTOGENE has established stringent quality criteria and validation processes
for variants detected by NGS. Variants with low sequenci ng quality and/or unclear zyg osity are confirmed by orthogonal methods.
Consequently, a specificity of > 99.9% for all reported variants is warranted. Mitochondrial variants are reported for heteroplasmy levels of 15%
or higher. The copy number variation (CNV) detection software has a sensitivity of more than 95% for all homozygous/hemizygous and
mitochondrial deletions, as well as heterozygous deletions/duplications and homozygous/hemizygous duplications spanning at least three
consecutive exons. For the u niparental disomy (UPD) screening, a specific algorithm is used to assess the well -known clinically relevant
chromosomal regions (6q24, 7, 11p15.5, 14q32, 15q11q13, 20q13 and 2
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Method used for proficiency testing:
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PT Provider:
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VUS:
Software used to interpret novel variations
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ALAMUT, integrating other programs (Polyphen-2, Mutation Taster, Alignment, ExPASy, BLAST) .
Laboratory's policy on reporting novel variations
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Centogene has a common practice to report all variants found in genetic testing, including novel and previously reported variants. A number of criteria are used to support a variant as being potentially disease-causing, including segregation with disease status in other affected family members, absence from a control population, and location …
Centogene has a common practice to report all variants found in genetic testing, including novel and previously reported variants. A number of criteria are used to support a variant as being potentially disease-causing, including segregation with disease status in other affected family members, absence from a control population, and location in a conserved amino acid sequence. Evidence of altered gene function is ideally required to confirm pathogenicity, however this type of supporting evidence
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Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
