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Fulgent Genetics
Intellectual Disability NGS Panel
Intellectual Disability NGS Panel
At a Glance
Diagnosis;
Mutation Confirmation
Adrenoleukodystrophy;
11p partial monosomy syndrome;
3-methylcrotonyl-CoA carboxylase 1 deficiency
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Adrenoleukodystrophy
11p partial monosomy syndrome
3-methylcrotonyl-CoA carboxylase 1 deficiency
3-methylcrotonyl-CoA carboxylase 2 deficiency
3-methylglutaconic aciduria type 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
ALDH18A1-related de Barsy syndrome
ALG1-congenital disorder of glycosylation
ALG11-congenital disorder of glycosylation
ALG12-congenital disorder of glycosylation
ALG2-congenital disorder of glycosylation
ALG3-congenital disorder of glycosylation
ALG6-congenital disorder of glycosylation 1C
Aarskog syndrome
Abnormal cranial suture/fontanelle morphology
Abnormal dermatoglyphics
Abnormal electroretinogram
Abnormal facial shape
Abnormal hair quantity
Abnormal hair whorl
Abnormal helix morphology
Abnormal intervertebral disk morphology
Abnormal nipple morphology
Abnormal palate morphology
Abnormal pattern of respiration
Abnormal pulmonary valve morphology
Abnormal pyramidal sign
Abnormal speech pattern
Abnormality of coagulation
Abnormality of immune system physiology
Abnormality of the autonomic nervous system
Abnormality of the dentition
Abnormality of the eye
Abnormality of the liver
Abnormality of the outer ear
Abnormality of the pulmonary artery
Abnormality of the spleen
Abnormality of the tongue
Abnormality of thrombocytes
Abnormality of visual evoked potentials
Absent speech
Achondroplasia
Acquired hemoglobin H disease
Acrocallosal syndrome
Acrocephalosyndactyly type I
Acrocyanosis
Acrodysostosis
Acrodysostosis 2 with or without hormone resistance
Acromicric dysplasia
Acute biphenotypic leukemia
Acute lymphoid leukemia
Acute monocytic leukemia
Acute myeloid leukemia
Acute myelomonocytic leukemia M4
Acyl-CoA oxidase deficiency
Adenylosuccinate lyase deficiency
Adult neuronal ceroid lipofuscinosis
Adult polyglucosan body disease
Age related macular degeneration 5
Aggressive behavior
Aicardi-Goutieres syndrome 5
Aicardi-Goutieres syndrome 6
Alexander disease
Allan-Herndon-Dudley syndrome
Alpha thalassemia-X-linked intellectual disability syndrome
Alpha-N-acetylgalactosaminidase deficiency type 1
Alpha-N-acetylgalactosaminidase deficiency type 2
Alternating hemiplegia of childhood
Aminoacylase 1 deficiency
Androgen resistance syndrome
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Angelman syndrome
Aniridia 1
Anophthalmia/microphthalmia-esophageal atresia syndrome
Anteverted nares
Antley-Bixler syndrome
Anxiety
Aplasia/Hypoplasia of the abdominal wall musculature
Aplastic anemia
Arginase deficiency
Arts syndrome
Asperger syndrome, X-linked, susceptibility to, 1
Asperger syndrome, X-linked, susceptibility to, 2
Athetosis
Atrial septal defect
Atrophia bulborum hereditaria
Attention deficit-hyperactivity disorder, susceptibility to, 7
Atypical behavior
Autism
Autism spectrum disorder
Autism spectrum disorder due to AUTS2 deficiency
Autism, susceptibility to, 15
Autism, susceptibility to, 16
Autism, susceptibility to, 17
Autism, susceptibility to, X-linked 1
Autism, susceptibility to, X-linked 2
Autism, susceptibility to, X-linked 3
Autism, susceptibility to, X-linked 5
Autistic behavior
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant inheritance
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Autosomal dominant keratitis
Autosomal dominant nocturnal frontal lobe epilepsy 1
Autosomal dominant nonsyndromic hearing loss 20
Autosomal recessive DOPA responsive dystonia
Autosomal recessive Kenny-Caffey syndrome
Autosomal recessive Parkinson disease 14
Autosomal recessive cutis laxa type 2B
Autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius
Autosomal recessive limb-girdle muscular dystrophy type 2I
Autosomal recessive limb-girdle muscular dystrophy type 2K
Autosomal recessive limb-girdle muscular dystrophy type 2M
Autosomal recessive limb-girdle muscular dystrophy type 2N
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive nonsyndromic hearing loss 4
Autosomal recessive nonsyndromic hearing loss 86
Autosomal recessive proximal renal tubular acidosis
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Autosomal recessive spinocerebellar ataxia 11
Autosomal recessive spinocerebellar ataxia 13
Autosomal recessive spinocerebellar ataxia 7
Axial hypotonia
Bannayan-Riley-Ruvalcaba syndrome
Baraitser-Winter syndrome
Baraitser-winter syndrome 2
Bardet-Biedl syndrome
Beare-Stevenson cutis gyrata syndrome
Becker muscular dystrophy
Beckwith-Wiedemann syndrome
Bent bone dysplasia syndrome 1
Beta-D-mannosidosis
Bilateral sensorineural hearing impairment
Birk-Barel syndrome
Blepharophimosis
Blepharophimosis - intellectual disability syndrome, MKB type
Blepharophimosis - intellectual disability syndrome, SBBYS type
Bohring-Opitz syndrome
Borjeson-Forssman-Lehmann syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
Brachycephaly
Brachydactyly
Breast neoplasm
Broad hallux
Broad nasal tip
Broad-based gait
Brugada syndrome 3
Brunner syndrome
Bulbous nose
Bulimia nervosa, susceptibility to, 1
CHARGE syndrome
CHIME syndrome
CK syndrome
CNS hypomyelination
COACH syndrome 1
COG5-congenital disorder of glycosylation
COG7 congenital disorder of glycosylation
COG8-congenital disorder of glycosylation
Café-au-lait macules with pulmonary stenosis
Camptodactyly
Camptodactyly of finger
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Carcinoma of colon
Carcinoma of pancreas
Cardiac arrhythmia
Cardiac valvular dysplasia, X-linked
Cardio-facio-cutaneous syndrome
Cardiofaciocutaneous syndrome 2
Carney complex, type 1
Cataract
Cataract 40
Cavum septum pellucidum
Central hypotonia
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
Cerebellar atrophy
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
Cerebellar vermis atrophy
Cerebral atrophy
Cerebral folate transport deficiency
Cerebral visual impairment
Cerebrooculofacioskeletal syndrome 1
Cerebrooculofacioskeletal syndrome 2
Cerebroretinal microangiopathy with calcifications and cysts 1
Cernunnos-XLF deficiency
Ceroid lipofuscinosis, neuronal, 6A
Cervical cancer
Charcot-Marie-Tooth disease X-linked recessive 4
Charcot-Marie-Tooth disease X-linked recessive 5
Charcot-Marie-Tooth disease axonal type 2O
Charlevoix-Saguenay spastic ataxia
Chilblain lupus 2
Child syndrome
Childhood apraxia of speech
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Childhood onset GLUT1 deficiency syndrome 2
Cholestanol storage disease
Chondrodysplasia punctata 2 X-linked dominant
Chorea
Christianson syndrome
Chromosome 2p16.3 deletion syndrome
Chromosome 2q32-q33 deletion syndrome
Chromosome 2q37 deletion syndrome
Chronic diarrhea
Chédiak-Higashi syndrome
Citrullinemia type I
Citrullinemia type II
Classic homocystinuria
Cleft palate
Cleft upper lip
Clinodactyly of the 5th finger
Clubfoot
Coarctation of aorta
Coarse facial features
Coarse hair
Cockayne syndrome type 1
Cockayne syndrome type 2
Coffin-Lowry syndrome
Coffin-Siris syndrome 1
Cognitive impairment
Cognitive impairment with or without cerebellar ataxia
Cohen syndrome
Coloboma of optic nerve
Colorectal cancer
Combined deficiency of sialidase AND beta galactosidase
Combined oxidative phosphorylation defect type 15
Complex cortical dysplasia with other brain malformations 1
Complex cortical dysplasia with other brain malformations 7
Compulsive behaviors
Cone-rod dystrophy
Congenital brain dysgenesis due to glutamine synthetase deficiency
Congenital central hypoventilation
Congenital contracture
Congenital contractures of the limbs and face, hypotonia, and developmental delay
Congenital defect of folate absorption
Congenital fibrosis of extraocular muscles type 1
Congenital hip dislocation
Congenital hyperammonemia, type I
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Congenital laryngomalacia
Congenital muscular dystrophy due to integrin alpha-7 deficiency
Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular torticollis
Congenital myasthenic syndrome 4C
Congenital sensory neuropathy with selective loss of small myelinated fibers
Congenital visual impairment
Conotruncal heart malformations
Constipation
Cornelia de Lange syndrome 1
Corpus callosum agenesis-abnormal genitalia syndrome
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Cortical dysplasia-focal epilepsy syndrome
Costello syndrome
Cowden syndrome
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
Craniofacial dysplasia - osteopenia syndrome
Craniofrontonasal syndrome
Craniosynostosis 5, susceptibility to
Creatine transporter deficiency
Crouzon syndrome
Crouzon syndrome-acanthosis nigricans syndrome
Cryptorchidism
Curly hair
Cushing syndrome
Cutis laxa, X-linked
Cystic hygroma
D-2-hydroxyglutaric aciduria 1
D-Glyceric aciduria
DE SANCTIS-CACCHIONE SYNDROME
DNA ligase IV deficiency
DYRK1A-related intellectual disability syndrome
Dandy-Walker syndrome
Danon disease
De Lange syndrome
Deafness dystonia syndrome
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Decreased body weight
Decreased motor nerve conduction velocity
Deeply set eye
Deficiency of acetyl-CoA acetyltransferase
Deficiency of alpha-mannosidase
Deficiency of beta-ureidopropionase
Deficiency of cytochrome-b5 reductase
Deficiency of ferroxidase
Deficiency of guanidinoacetate methyltransferase
Delayed gross motor development
Delayed myelination
Delayed skeletal maturation
Delayed speech and language development
Dent disease type 2
Dental crowding
Depressed nasal bridge
Desbuquois dysplasia 1
Desmosterolosis
Developmental and epileptic encephalopathy 94
Developmental and epileptic encephalopathy, 1
Developmental and epileptic encephalopathy, 11
Developmental and epileptic encephalopathy, 13
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 36
Developmental and epileptic encephalopathy, 39
Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy, 5
Developmental and epileptic encephalopathy, 7
Developmental and epileptic encephalopathy, 8
Developmental and epileptic encephalopathy, 9
Developmental malformations-deafness-dystonia syndrome
Developmental regression
Deviation of the 5th finger
DiGeorge syndrome
Diabetes insipidus, nephrogenic, X-linked
Diabetes mellitus, transient neonatal, 1
Diabetes mellitus, transient neonatal, 3
Difficulty walking
Dihydropyrimidine dehydrogenase deficiency
Dilated cardiomyopathy 1X
Dilated cardiomyopathy 3B
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Downslanted palpebral fissures
Downturned corners of mouth
Drooling
Duchenne muscular dystrophy
Dysarthria
Dysdiadochokinesis
Dysequilibrium syndrome
Dyskeratosis congenita, X-linked
Dyskeratosis congenita, autosomal dominant 1
Dyskeratosis congenita, autosomal dominant 3
Dyskeratosis congenita, autosomal recessive 2
Dyskinesia
Dysmetria
Dysmetric saccades
Dyssynergia
Dystonia 9
Dystonic disorder
EAST syndrome
EEG abnormality
Early infantile epileptic encephalopathy with suppression bursts
Ectopia lentis 1, isolated, autosomal dominant
Elbow flexion contracture
Encephalopathy due to GLUT1 deficiency
Endometrial carcinoma
Enlarged thorax
Epicanthus
Epidermal nevus
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
Epilepsy, childhood absence 2
Epilepsy, childhood absence, susceptibility to, 5
Epilepsy, idiopathic generalized, susceptibility to, 12
Epileptic encephalopathy
Epileptic spasm
Episodic ataxia type 2
Esotropia
Everted lower lip vermilion
Exudative vitreoretinopathy 2, X-linked
FG syndrome 1
FG syndrome 2
FRAXE
Failure to thrive
Familial aplasia of the vermis
Familial atrial myxoma
Familial gestational hyperthyroidism
Familial hemophagocytic lymphohistiocytosis 4
Familial hypercholesterolemia
Familial hyperthyroidism due to mutations in TSH receptor
Familial meningioma
Familial scaphocephaly syndrome, McGillivray type
Familial temporal lobe epilepsy 5
Fanconi anemia complementation group B
Fanconi anemia complementation group G
Fanconi anemia complementation group P
Fanconi anemia complementation group Q
Fanconi-Bickel syndrome
Febrile seizures, familial, 11
Febrile seizures, familial, 8
Feeding difficulties
Feeding difficulties in infancy
Feingold syndrome type 1
Fetal akinesia deformation sequence 1
Fetal growth restriction
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
Fine hair
Flat face
Flat occiput
Focal dermal hypoplasia
Focal segmental glomerulosclerosis
Foveal hypoplasia 1
Fragile X syndrome
Fragile X-associated tremor/ataxia syndrome
Frontometaphyseal dysplasia 1
Frontonasal dysplasia with alopecia and genital anomaly
Full cheeks
GNPTG-mucolipidosis
GRACILE syndrome
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Gait ataxia
Gait disturbance
Gastroesophageal reflux
Gaucher disease perinatal lethal
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaze-evoked horizontal nystagmus
Geleophysic dysplasia 2
Generalized epilepsy with febrile seizures plus, type 2
Generalized hypotonia
Generalized non-motor (absence) seizure
Generalized tonic seizure
Genitopatellar syndrome
Giant axonal neuropathy 1
Gillespie syndrome
Glioma susceptibility 2
Global developmental delay
Glucocorticoid deficiency 2
Glutathione synthetase deficiency without 5-oxoprolinuria
Glycogen storage disease IXa1
Glycogen storage disease IXc
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Glycogen storage disease, type IV
Glycogen storage disease, type VI
Greig cephalopolysyndactyly 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
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
HSD10 mitochondrial disease
Hamartoma of hypothalamus
Hand clenching
Hawkinsinuria
Hearing impairment
Heart septal defect
Hemifacial hypertrophy
Hemiplegia/hemiparesis
Hepatic methionine adenosyltransferase deficiency
Hepatocellular carcinoma
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Hepatomegaly
Hereditary cancer-predisposing syndrome
Hereditary disease
Hereditary gingival fibromatosis
Hereditary spastic paraplegia 10
Hereditary spastic paraplegia 13
Hereditary spastic paraplegia 15
Hereditary spastic paraplegia 2
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 3A
Hereditary spastic paraplegia 4
Hereditary spastic paraplegia 47
Hereditary spastic paraplegia 50
Hereditary spastic paraplegia 51
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Hermansky-Pudlak syndrome 2
Heterotopia, periventricular, X-linked dominant
Hiatus hernia
High forehead
High palate
Highly arched eyebrow
Hip contracture
Holoprosencephaly 4
Holoprosencephaly 5
Homocystinuria
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Human HOXA1 syndromes
Hydrocephalus
Hydrolethalus syndrome 2
Hyperactivity
Hyperekplexia 1
Hyperextensible skin
Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinism due to INSR deficiency
Hyperinsulinism due to glucokinase deficiency
Hyperkeratosis
Hyperlordosis
Hypermetropia
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperphosphatasia with intellectual disability syndrome 1
Hyperphosphatasia with intellectual disability syndrome 2
Hyperprolinemia type 2
Hypertelorism
Hypertonia
Hypertrophic cardiomyopathy
Hypoalbuminemia
Hypochondroplasia
Hypoglycemia
Hypoglycemic seizures
Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 5 with or without anosmia
Hypomyelinating leukodystrophy 4
Hypomyelination and Congenital Cataract
Hypoparathyroidism-retardation-dysmorphism syndrome
Hypopigmentation of the skin
Hypoplasia of the brainstem
Hypoplasia of the corpus callosum
Hypoplasia of the ear cartilage
Hypoplasia of the iris
Hypospadias
Hypospadias 1, X-linked
Hypotelorism
Hypothyroidism
Hypothyroidism due to TSH receptor mutations
Hypothyroidism, congenital, nongoitrous, 7
Hypotonia
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Hypsarrhythmia
IFAP syndrome 1, with or without BRESHECK syndrome
IMAGe syndrome
Idiopathic basal ganglia calcification 1
Immunodeficiency
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Impaired pain sensation
Impaired smooth pursuit
Inability to walk
Inappropriate laughter
Inborn glycerol kinase deficiency
Incoordination
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Infantile neuroaxonal dystrophy
Inguinal hernia
Inherited glutathione synthetase deficiency
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Intellectual developmental disorder with autism and macrocephaly
Intellectual disability
Intellectual disability, X-linked 1
Intellectual disability, X-linked 19
Intellectual disability, X-linked 21
Intellectual disability, X-linked 30
Intellectual disability, X-linked 41
Intellectual disability, X-linked 45
Intellectual disability, X-linked 46
Intellectual disability, X-linked 58
Intellectual disability, X-linked 63
Intellectual disability, X-linked 72
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
Intellectual disability, X-linked syndromic, Turner type
Intellectual disability, X-linked, with or without seizures, arx-related
Intellectual disability, X-linked, with panhypopituitarism
Intellectual disability, anterior maxillary protrusion, and strabismus
Intellectual disability, autosomal dominant 1
Intellectual disability, autosomal dominant 10
Intellectual disability, autosomal dominant 13
Intellectual disability, autosomal dominant 14
Intellectual disability, autosomal dominant 15
Intellectual disability, autosomal dominant 16
Intellectual disability, autosomal dominant 20
Intellectual disability, autosomal dominant 3
Intellectual disability, autosomal dominant 4
Intellectual disability, autosomal dominant 5
Intellectual disability, autosomal dominant 6
Intellectual disability, autosomal dominant 8
Intellectual disability, autosomal dominant 9
Intellectual disability, autosomal recessive 1
Intellectual disability, autosomal recessive 13
Intellectual disability, autosomal recessive 14
Intellectual disability, autosomal recessive 18
Intellectual disability, autosomal recessive 2
Intellectual disability, autosomal recessive 3
Intellectual disability, autosomal recessive 34
Intellectual disability, autosomal recessive 5
Intellectual disability, autosomal recessive 6
Intellectual disability, autosomal recessive 7
Intellectual disability, profound
Intellectual disability, severe
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Intention tremor
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
Irido-corneo-trabecular dysgenesis
Iris coloboma
Irritability
Isolated focal cortical dysplasia type II
Isolated microcephaly
Isolated optic nerve hypoplasia
Jackson-Weiss syndrome
Jawad syndrome
Joint contracture of the hand
Joint hypermobility
Joubert syndrome 10
Joubert syndrome 15
Joubert syndrome 3
Joubert syndrome 5
Joubert syndrome 6
Joubert syndrome 7
Joubert syndrome 9
Juvenile myelomonocytic leukemia
Juvenile onset
KBG syndrome
Kabuki syndrome 1
Kabuki syndrome 2
Kahrizi syndrome
Kennedy disease
Keratosis follicularis spinulosa decalvans, X-linked
Keratosis pilaris
Kidney damage
Kleefstra syndrome 1
Knee flexion contracture
Kufor-Rakeb syndrome
Kyphosis
LEOPARD syndrome 1
LEOPARD syndrome 3
Landau-Kleffner syndrome
Language disorder
Laron-type isolated somatotropin defect
Leber congenital amaurosis 10
Legius syndrome
Leigh syndrome
Leprechaunism syndrome
Lesch-Nyhan syndrome
Lethal polymalformative syndrome, Boissel type
Leukocyte adhesion deficiency type II
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Levy-Hollister syndrome
Lewy body dementia
Limb ataxia
Limb hypertonia
Linear nevus sebaceous syndrome
Linear skin defects with multiple congenital anomalies 1
Lissencephaly due to LIS1 mutation
Lissencephaly due to TUBA1A mutation
Lissencephaly type 1 due to doublecortin gene mutation
Long eyelashes
Long face
Long philtrum
Low anterior hairline
Low posterior hairline
Low-set ears
Low-set, posteriorly rotated ears
Lowe syndrome
Lung adenocarcinoma
Lung carcinoma
Lymphangiomyomatosis
Lymphedema
Lynch syndrome
Lysinuric protein intolerance
MASA syndrome
MASS syndrome
MEDNIK syndrome
MGAT2-congenital disorder of glycosylation
Macrocephaly
Macrocephaly-autism syndrome
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Macrogyria
Macrotia
Major depressive disorder
Malar flattening
Malignant tumor of prostate
Malignant tumor of testis
Malignant tumor of urinary bladder
Mandibulofacial dysostosis-microcephaly syndrome
Maple syrup urine disease
Marfan syndrome
Marinesco-Sjögren syndrome
Matthew-Wood syndrome
Maturity-onset diabetes of the young type 2
McCune-Albright syndrome
McKusick-Kaufman syndrome
Meckel syndrome, type 3
Meckel syndrome, type 4
Meckel syndrome, type 5
Meckel syndrome, type 6
Megalencephalic leukoencephalopathy with subcortical cysts 1
Megalencephalic leukoencephalopathy with subcortical cysts 2A
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
Meier-Gorlin syndrome
Melanocytic nevus
Melanoma
Melanoma, cutaneous malignant, susceptibility to, 1
Melnick-Needles syndrome
Menkes kinky-hair syndrome
Merosin deficient congenital muscular dystrophy
Metachondromatosis
Methylcobalamin deficiency type cblG
Methylmalonic acidemia
Methylmalonic aciduria
Methylmalonic aciduria and homocystinuria type cblD
Methylmalonic aciduria and homocystinuria type cblF
Microcephalic osteodysplastic primordial dwarfism type II
Microcephaly 1, primary, autosomal recessive
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
Microcephaly 5, primary, autosomal recessive
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Microcephaly, normal intelligence and immunodeficiency
Microcephaly, seizures, and developmental delay
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Micrognathia
Microphthalmia
Microphthalmia, syndromic 1
Microretrognathia
Midface retrusion
Migraine, familial hemiplegic, 1
Migraine, familial hemiplegic, 2
Migraine, familial hemiplegic, 3
Mitochondrial DNA depletion syndrome 9
Mitochondrial complex I deficiency
Mitochondrial complex III deficiency nuclear type 1
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 2
Motor delay
Mowat-Wilson syndrome
Mucolipidosis type II
Mucolipidosis type IV
Mucopolysaccharidosis type 7
Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A
Muenke syndrome
Multiple congenital anomalies
Multiple congenital anomalies-hypotonia-seizures syndrome 2
Multiple myeloma
Muscle eye brain disease
Muscle weakness
Muscular atrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy type B5
Myelodysplastic syndrome
Myopathy, centronuclear, 2
Myopia
NPHP3-related Meckel-like syndrome
Nance-Horan syndrome
Narrow forehead
Narrow nasal ridge
Neonatal hypotonia
Neonatal intrahepatic cholestasis due to citrin deficiency
Neoplasm of stomach
Nephroblastoma
Nephrogenic syndrome of inappropriate antidiuresis
Nephronophthisis 11
Nephronophthisis 3
Nephronophthisis-like nephropathy 1
Nephrotic syndrome
Nephrotic syndrome, type 4
Neural tube defects, folate-sensitive
Neurodegeneration with brain iron accumulation 2B
Neurodegeneration with brain iron accumulation 5
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Neuronal ceroid lipofuscinosis 1
Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis 11
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuropathy, hereditary sensory, type 1D
Neuropathy, hereditary sensory, type 2C
Nicolaides-Baraitser syndrome
Niemann-Pick disease, type C1
Niemann-Pick disease, type C2
Non-acquired combined pituitary hormone deficiency with spine abnormalities
Non-small cell lung carcinoma
Non-syndromic X-linked intellectual disability
Nonprogressive cerebellar ataxia
Noonan syndrome
Noonan syndrome 1
Noonan syndrome 3
Noonan syndrome 4
Noonan syndrome 7
Noonan syndrome-like disorder with loose anagen hair 1
Norman-Roberts syndrome
Nystagmus
Obesity
Obsessive-compulsive disorder
Obstructive sleep apnea syndrome
Occipital pachygyria and polymicrogyria
Oculofaciocardiodental syndrome
Ogden syndrome
Oligohydramnios
Olmsted syndrome, X-linked
Opacification of the corneal stroma
Open mouth
Optic atrophy
Ornithine carbamoyltransferase deficiency
Orofaciodigital syndrome I
Osteoglophonic dysplasia
Osteopathia striata with cranial sclerosis
Oto-palato-digital syndrome, type I
Oto-palato-digital syndrome, type II
Ovarian neoplasm
PCWH syndrome
PDA1
PMM2-congenital disorder of glycosylation
PYCR1-related de Barsy syndrome
Pallister-Hall syndrome
Panhypopituitarism, X-linked
Papillary thyroid carcinoma
Parietal foramina 2
Parkinson disease
Paroxysmal nocturnal hemoglobinuria
Partial androgen insensitivity syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Partington syndrome
Pectus carinatum
Pectus excavatum
Pelizaeus-Merzbacher disease
Pendred syndrome
Permanent neonatal diabetes mellitus
Peroxisome biogenesis disorder 9B
Pes cavus
Pes planus
Pettigrew syndrome
Pfeiffer syndrome
Phelan-McDermid syndrome
Phenylketonuria
Phosphoribosylpyrophosphate synthetase superactivity
Phytanic acid storage disease
Pigmented nodular adrenocortical disease, primary, 1
Pili torti-deafness syndrome
Pilomatrixoma
Pitt-Hopkins syndrome
Pitt-Hopkins-like syndrome 2
Pituitary hormone deficiency, combined, 1
Plagiocephaly
Pointed chin
Polyhydramnios
Polymicrogyria with optic nerve hypoplasia
Polysyndactyly 4
Postaxial polydactyly
Posteriorly rotated ears
Postural tremor
Prader-Willi syndrome
Precocious puberty
Premature birth
Premature chromatid separation trait
Premature ovarian failure 1
Primitive reflex
Progressive
Progressive myoclonic epilepsy type 3
Progressive osseous heteroplasia
Prominent forehead
Prominent metopic ridge
Prominent nasal bridge
Prominent nose
Proptosis
Proteinuria
Pseudo-Hurler polydystrophy
Pseudohypoparathyroidism
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
Pseudopseudohypoparathyroidism
Psychomotor retardation, epilepsy, and craniofacial dysmorphism
Ptosis
Pulmonary hypertension, neonatal, susceptibility to
Pulmonic stenosis
Pursed lips
Pyloric stenosis
Pyruvate dehydrogenase E3-binding protein deficiency
Pyruvate dehydrogenase complex deficiency
RASopathy
Rabson-Mendenhall syndrome
Radioulnar synostosis
Rafiq syndrome
Recurrent infections
Recurrent respiratory infections
Reduced bone mineral density
Reduced eye contact
Relative macrocephaly
Renal-hepatic-pancreatic dysplasia 1
Renpenning syndrome
Respiratory distress
Retinitis pigmentosa 23
Retinitis pigmentosa 51
Retrocerebellar cyst
Rett syndrome
Rett syndrome, congenital variant
Revesz syndrome
Rhabdoid tumor predisposition syndrome 1
Rhabdoid tumor predisposition syndrome 2
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2
Robinow-Sorauf syndrome
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
SMARCB1-related schwannomatosis
SRD5A3-congenital disorder of glycosylation
Sacral dimple
Saethre-Chotzen syndrome
Sandhoff disease
Scanning speech
Schaaf-Yang syndrome
Schinzel-Giedion syndrome
Schizophrenia
Schizophrenia 15
Scoliosis
Scoliosis, isolated, susceptibility to, 3
Seckel syndrome 2
Seizure
Seizures, benign familial infantile, 3
Seizures, benign familial neonatal, 1
Selective pituitary resistance to thyroid hormone
Self-injurious behavior
Senior-Loken syndrome 6
Senior-Loken syndrome 7
Sensorineural hearing loss disorder
Severe congenital neutropenia
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Severe global developmental delay
Severe intellectual disability-progressive spastic diplegia syndrome
Severe myoclonic epilepsy in infancy
Severe neonatal-onset encephalopathy with microcephaly
Short columella
Short middle phalanx of finger
Short neck
Short nose
Short philtrum
Short stature due to partial GHR deficiency
Short toe
Shprintzen-Goldberg syndrome
Simplified gyral pattern
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
Single umbilical artery
Skeletal defects, genital hypoplasia, and intellectual disability
Sleep abnormality
Sleep apnea
Slender finger
Slender nose
Sloping forehead
Small for gestational age
Small nail
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Smooth philtrum
Somatotroph adenoma
Sotos syndrome
Sparse and thin eyebrow
Sparse hair
Spastic paraplegia 52, autosomal recessive
Spastic tetraplegia
Spasticity
Speech apraxia
Spinocerebellar ataxia type 15/16
Spinocerebellar ataxia type 27
Spinocerebellar ataxia type 34
Spinocerebellar ataxia type 6
Squamous cell carcinoma of the head and neck
Stargardt disease 3
Stereotypic movement disorder
Stiff skin syndrome
Strabismus, susceptibility to
Stroke, susceptibility to, 1
Succinate-semialdehyde dehydrogenase deficiency
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Susceptibility to bulimia nervosa
Symmetrical dyschromatosis of extremities
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 Hedera type
Syndromic X-linked intellectual disability Lubs type
Syndromic X-linked intellectual disability Najm 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
Syndromic intellectual disability
Synophrys
TARP syndrome
TMEM165-congenital disorder of glycosylation
TWIST1-related craniosynostosis
Tapered finger
Tatton-Brown-Rahman overgrowth syndrome
Tay-Sachs disease, variant AB
Tented upper lip vermilion
Terminal osseous dysplasia-pigmentary defects syndrome
Tetralogy of Fallot
Thanatophoric dysplasia type 1
Thanatophoric dysplasia, type 2
Thick eyebrow
Thick lower lip vermilion
Thick vermilion border
Thickened nuchal skin fold
Thin upper lip vermilion
Thin vermilion border
Thrombocytopenia
Thrombophilia
Thumbs, congenital Clasped
Thyroid cancer, nonmedullary, 2
Thyroid dyshormonogenesis 1
Thyroid hormone resistance, generalized, autosomal dominant
Thyroid hormone resistance, generalized, autosomal recessive
Timothy syndrome
Tobacco addiction, susceptibility to
Transposition of the great arteries, dextro-looped
Tremor
Triangular face
Trichohepatoenteric syndrome 1
Trichothiodystrophy 1, photosensitive
Trigonocephaly 1
Truncal ataxia
Tuberous sclerosis 1
Tuberous sclerosis 2
Type 2 diabetes mellitus
Tyrosinemia type III
UDPglucose-4-epimerase deficiency
UV-sensitive syndrome 1
UV-sensitive syndrome 2
Umbilical hernia
Uplifted earlobe
Upslanted palpebral fissure
Urinary bladder carcinoma
Urocanate hydratase deficiency
VACTERL association, X-linked, with or without hydrocephalus
VACTERL with hydrocephalus
Variegate porphyria
Velocardiofacial syndrome
Ventricular fibrillation, paroxysmal familial, 2
Ventricular septal defect
Volvulus
Waardenburg syndrome type 2E
Waardenburg syndrome type 4C
Walker-Warburg congenital muscular dystrophy
Weaver syndrome
Webbed neck
Weight loss
Weill-Marchesani syndrome 2, dominant
Wide intermamillary distance
Wide mouth
Wide nasal bridge
Wide nose
Wiedemann-Steiner syndrome
Wilson-Turner syndrome
X-linked Opitz G/BBB syndrome
X-linked complicated corpus callosum dysgenesis
X-linked distal spinal muscular atrophy type 3
X-linked dystonia-parkinsonism
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 with marfanoid habitus
X-linked intellectual disability, Stocco dos Santos type
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked lissencephaly with abnormal genitalia
X-linked parkinsonism-spasticity syndrome
X-linked syndromic intellectual disability
XFE progeroid syndrome
Xeroderma pigmentosum group B
Xeroderma pigmentosum, group D
Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group G
intellectual disability with severe speech impairment
ABCD1 (Xq28);
ACAT1 (11q22.3);
ACOX1 (17q25.1);
ACSL4 (Xq23);
ACTB (7p22.1)
more...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Ordering Information
Specimen Source:
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Buccal swab
Cell culture
Cord blood
Fetal blood
Fibroblasts
Fresh tissue
Frozen tissue
Isolated DNA
Peripheral (whole) blood
Saliva
View specimen requirements
Who can order: Help
Genetic Counselor
Health Care Provider
Licensed Physician
Test Order Code:
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FT-TP00136
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 development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Decline to answer
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:
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 1058
Condition/Phenotype
Identifier
Test Targets
Genes
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Total genes: 554
Gene
Associated Condition
Germline or Somatic
Allele (Lab-provided)
Variant in NCBI
Methodology
Total methods: 2
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)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
What is the protocol for interpreting a variation as a VUS?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Availability:
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Tests performed
Analytical Validity:
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Analytical sensitivity, specificity and accuracy are >98%, 96% and 97% respectively.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
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