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Fulgent Genetics
Epilepsy Comprehensive NGS Panel
Epilepsy Comprehensive NGS Panel
At a Glance
Diagnosis;
Mutation Confirmation
Gamma-aminobutyric acid transaminase deficiency;
3-methylglutaconic aciduria type 1;
AICA-ribosiduria
more...
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Gamma-aminobutyric acid transaminase deficiency
3-methylglutaconic aciduria type 1
AICA-ribosiduria
ALG1-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
ALG8 congenital disorder of glycosylation
ALG9 congenital disorder of glycosylation
Aarskog syndrome
Abnormal abdomen morphology
Abnormal circulating branched chain amino acid concentration
Abnormal electroretinogram
Abnormal facial shape
Abnormal pattern of respiration
Abnormal pinna morphology
Abnormal speech pattern
Abnormality of the autonomic nervous system
Abnormality of the eye
Abnormality of the voice
Absence seizure
Absent speech
Achondroplasia
Acquired hemoglobin H disease
Acrocyanosis
Acrokeratosis verruciformis of Hopf
Action myoclonus-renal failure syndrome
Adenylosuccinate lyase deficiency
Adrenal insufficiency
Adult neuronal ceroid lipofuscinosis
Aggressive behavior
Aicardi-Goutieres syndrome 1
Aicardi-Goutieres syndrome 2
Aicardi-Goutieres syndrome 3
Aicardi-Goutieres syndrome 4
Aicardi-Goutieres syndrome 5
Aicardi-Goutieres syndrome 6
Alexander disease
Alpha thalassemia-X-linked intellectual disability syndrome
Alpha-methylacyl-CoA racemase deficiency
Alternating hemiplegia of childhood
Amaurosis fugax
Ambiguous genitalia
Amelocerebrohypohidrotic syndrome
Aminoacylase 1 deficiency
Amish lethal microcephaly
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Angelman syndrome
Arginase deficiency
Arginine:glycine amidinotransferase deficiency
Aspartylglucosaminuria
Athetosis
Atonic seizure
Atrial fibrillation, familial, 10
Atrial fibrillation, familial, 13
Auditory hallucination
Autism spectrum disorder
Autism, susceptibility to, 15
Autism, susceptibility to, X-linked 3
Autistic behavior
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Autosomal dominant hypocalcemia 1
Autosomal dominant inheritance
Autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant nocturnal frontal lobe epilepsy 1
Autosomal dominant nocturnal frontal lobe epilepsy 3
Autosomal dominant nocturnal frontal lobe epilepsy 4
Autosomal recessive Parkinson disease 14
Autosomal recessive early-onset Parkinson disease 6
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 spinocerebellar ataxia 7
Axial hypotonia
B4GALT1-congenital disorder of glycosylation
Babinski sign
Bardet-Biedl syndrome
Basal cell carcinoma, susceptibility to, 1
Beckwith-Wiedemann syndrome
Bilateral frontoparietal polymicrogyria
Bilateral tonic-clonic seizure
Biotin-responsive basal ganglia disease
Biotinidase deficiency
Blepharophimosis - intellectual disability syndrome, MKB type
Blepharospasm
Borjeson-Forssman-Lehmann syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
Brachydactyly
Brain atrophy
Brain small vessel disease 1 with or without ocular anomalies
Branched-chain keto acid dehydrogenase kinase deficiency
Breast neoplasm
Broad nasal tip
Brugada syndrome 1
Brugada syndrome 5
Brugada syndrome 8
CBL-related disorder
CNS demyelination
CNS hypomyelination
COACH syndrome 1
COG7 congenital disorder of glycosylation
COG8-congenital disorder of glycosylation
Café-au-lait macules with pulmonary stenosis
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Carcinoma of colon
Carcinoma of pancreas
Cardiac arrhythmia
Cardiac valvular dysplasia, X-linked
Cardio-facio-cutaneous syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Cardiofaciocutaneous syndrome 2
Cardiofaciocutaneous syndrome 3
Cardiofaciocutaneous syndrome 4
Carnitine palmitoyl transferase II deficiency, myopathic form
Carnitine palmitoyl transferase II deficiency, neonatal form
Carnitine palmitoyl transferase II deficiency, severe infantile form
Central hypotonia
Cerebellar atrophy
Cerebellar vermis atrophy
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Cerebral atrophy
Cerebral cortical atrophy
Cerebral folate transport deficiency
Cerebral visual impairment
Ceroid lipofuscinosis, neuronal, 6A
Cervical cancer
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Charcot-Marie-Tooth disease axonal type 2O
Chest pain
Chilblain lupus 1
Chilblain lupus 2
Childhood onset GLUT1 deficiency syndrome 2
Chorea
Chorea-acanthocytosis
Christianson syndrome
Chromosome 2p16.3 deletion syndrome
Chromosome 2q37 deletion syndrome
Chronic kidney disease
Clonus
Coarse facial features
Coenzyme Q10 deficiency, primary, 1
Coenzyme Q10 deficiency, primary, 3
Cognitive impairment
Cognitive impairment with or without cerebellar ataxia
Cohen syndrome
Combined PSAP deficiency
Combined deficiency of sialidase AND beta galactosidase
Combined molybdoflavoprotein enzyme deficiency
Combined oxidative phosphorylation defect type 14
Complex cortical dysplasia with other brain malformations
Complex cortical dysplasia with other brain malformations 7
Cone dystrophy with supernormal rod response
Cone-rod dystrophy
Congenital bile acid synthesis defect 4
Congenital defect of folate absorption
Congenital disorder of glycosylation type 1E
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Congenital muscular hypertrophy-cerebral syndrome
Congenital myasthenic syndrome 13
Congenital myasthenic syndrome 16
Conotruncal heart malformations
Constitutional megaloblastic anemia with severe neurologic disease
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 3
Corpus callosum agenesis-abnormal genitalia syndrome
Corpus callosum, agenesis of
Cortical dysplasia
Cortical dysplasia-focal epilepsy syndrome
Costello syndrome
Creatine transporter deficiency
Crouzon syndrome-acanthosis nigricans syndrome
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
Cutis laxa with osteodystrophy
DK1-congenital disorder of glycosylation
DPAGT1-congenital disorder of glycosylation
DYRK1A-related intellectual disability syndrome
Deficiency of guanidinoacetate methyltransferase
Delayed myelination
Delayed speech and language development
Dementia
Depression
Developmental and epileptic encephalopathy 94
Developmental and epileptic encephalopathy, 1
Developmental and epileptic encephalopathy, 11
Developmental and epileptic encephalopathy, 12
Developmental and epileptic encephalopathy, 13
Developmental and epileptic encephalopathy, 19
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 24
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 regression
DiGeorge syndrome
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, transient neonatal, 3
Difficulty walking
Dihydropteridine reductase deficiency
Dihydropyrimidine dehydrogenase deficiency
Dilated cardiomyopathy 1E
Dilated cardiomyopathy 1GG
Dilated cardiomyopathy 1X
Displacement of the urethral meatus
Downslanted palpebral fissures
Dysarthria
Dyssynergia
Dystonia 9
Dystonic disorder
EAST syndrome
EEG abnormality
EEG with irregular generalized spike and wave complexes
EEG with photoparoxysmal response
Early infantile epileptic encephalopathy with suppression bursts
Early myoclonic encephalopathy
Emotional lability
Encephalopathy due to GLUT1 deficiency
Encephalopathy, acute, infection-induced, susceptibility to, 4
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Enhancement of the C-reflex
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, childhood absence, susceptibility to, 6
Epilepsy, familial focal, with variable foci 1
Epilepsy, familial temporal lobe, 1
Epilepsy, idiopathic generalized, susceptibility to, 10
Epilepsy, idiopathic generalized, susceptibility to, 11
Epilepsy, idiopathic generalized, susceptibility to, 12
Epilepsy, idiopathic generalized, susceptibility to, 13
Epilepsy, idiopathic generalized, susceptibility to, 8
Epilepsy, idiopathic generalized, susceptibility to, 9
Epilepsy, progressive myoclonic, 1B
Epileptic encephalopathy
Epileptic spasm
Episodic ataxia type 1
Episodic ataxia type 2
Episodic ataxia type 5
Episodic ataxia type 6
Episodic kinesigenic dyskinesia 1
Episodic pain syndrome, familial, 2
FG syndrome 1
FG syndrome 2
Failure to thrive
Familial aplasia of the vermis
Familial encephalopathy with neuroserpin inclusion bodies
Familial hyperkalemic periodic paralysis
Familial hypocalciuric hypercalcemia
Familial porencephaly
Familial temporal lobe epilepsy 5
Febrile seizures, familial, 11
Febrile seizures, familial, 4
Febrile seizures, familial, 8
Feeding difficulties in infancy
Female pseudohermaphroditism
Fine hair
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
Focal impaired awareness seizure
Focal-onset seizure
Fragile site 11b
Frontometaphyseal dysplasia 1
Fucosidosis
Fumarase deficiency
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GM3 synthase deficiency
GNE myopathy
GRACILE syndrome
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Gait ataxia
Gait disturbance
Galactosylceramide beta-galactosidase deficiency
Gastroesophageal reflux
Gaucher disease due to saposin C deficiency
Gaze-evoked nystagmus
Generalized epilepsy
Generalized epilepsy with febrile seizures plus
Generalized epilepsy with febrile seizures plus, type 1
Generalized epilepsy with febrile seizures plus, type 2
Generalized epilepsy with febrile seizures plus, type 7
Generalized epilepsy-paroxysmal dyskinesia syndrome
Generalized myoclonic seizure
Generalized non-motor (absence) seizure
Generalized tonic seizure
Giant somatosensory evoked potentials
Gliosis
Global developmental delay
Glutaric aciduria, type 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Gonadal dysgenesis
Gorlin syndrome
Greenberg dysplasia
Greig cephalopolysyndactyly syndrome
Growth delay
HSD10 mitochondrial disease
Hamartoma of hypothalamus
Hawkinsinuria
Hemiplegia/hemiparesis
Hemorrhage, intracerebral, susceptibility to
Hepatocellular necrosis
Hereditary disease
Hereditary spastic paraplegia 2
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Heterotopia, periventricular, X-linked dominant
High forehead
Highly arched eyebrow
Holoprosencephaly 2
Holoprosencephaly 3
Holoprosencephaly 5
Holoprosencephaly 7
Holoprosencephaly 9
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Hydrocephalus
Hyperekplexia 1
Hyperekplexia 2
Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinism-hyperammonemia syndrome
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperphosphatasia with intellectual disability syndrome 1
Hyperphosphatasia with intellectual disability syndrome 2
Hyperprolinemia type 2
Hypertonia
Hypertrichosis
Hypobetalipoproteinemia
Hypochondroplasia
Hypoglycemia
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 2
Hypokinesia
Hypoplasia of penis
Hypoplasia of the brainstem
Hypoplasia of the corpus callosum
Hypoplasia of the pons
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Hyporeflexia
Hypotelorism
Hypotonia
Hypsarrhythmia
Inability to walk
Incoordination
Increased CSF lactate
Increased circulating lactate concentration
Increased neuronal autofluorescent lipopigment
Infantile GM1 gangliosidosis
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Infantile convulsions and choreoathetosis
Infantile neuroaxonal dystrophy
Intellectual disability
Intellectual disability, X-linked 1
Intellectual disability, X-linked 30
Intellectual disability, X-linked 72
Intellectual disability, X-linked 96
Intellectual disability, X-linked, with or without seizures, arx-related
Intellectual disability, autosomal dominant 1
Intellectual disability, autosomal dominant 13
Intellectual disability, autosomal dominant 20
Intellectual disability, autosomal dominant 5
Intellectual disability, autosomal dominant 6
Intellectual disability, autosomal dominant 8
Intellectual disability, profound
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
Involuntary movements
Irritability
Isolated focal cortical dysplasia type II
Isolated microcephaly
Jerk-locked premyoclonus spikes
Joubert syndrome 10
Joubert syndrome 3
Joubert syndrome 5
Joubert syndrome 6
Joubert syndrome 7
Joubert syndrome 8
Joubert syndrome 9
Joubert syndrome with renal defect
Juvenile myelomonocytic leukemia
Juvenile myoclonic epilepsy
Kabuki syndrome 1
Kabuki syndrome 2
Keratosis follicularis
Knobloch syndrome
Koolen-de Vries syndrome
Krabbe disease due to saposin A deficiency
Kufor-Rakeb syndrome
L-2-hydroxyglutaric aciduria
LEOPARD syndrome 1
LEOPARD syndrome 3
Lactic acidosis
Lafora disease
Landau-Kleffner syndrome
Leber congenital amaurosis 10
Legius syndrome
Leigh syndrome
Leucine-induced hypoglycemia
Leukocyte adhesion deficiency type II
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Levy-Hollister syndrome
Limb ataxia
Linear nevus sebaceous syndrome
Lipoic acid synthetase deficiency
Lissencephaly 4
Lissencephaly due to LIS1 mutation
Lissencephaly due to TUBA1A mutation
Lissencephaly type 1 due to doublecortin gene mutation
Long QT syndrome 2
Long QT syndrome 3
Low anterior hairline
Low-set ears
Lung adenocarcinoma
Lung carcinoma
Lymphadenopathy
Lymphangiomyomatosis
MGAT2-congenital disorder of glycosylation
MOGS-congenital disorder of glycosylation
MPDU1-congenital disorder of glycosylation
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Malignant tumor of prostate
Malignant tumor of testis
Malignant tumor of urinary bladder
Meckel syndrome, type 3
Meckel syndrome, type 4
Meckel syndrome, type 5
Meckel syndrome, type 6
Megalencephalic leukoencephalopathy with subcortical cysts 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Melanoma
Melnick-Needles syndrome
Mental deterioration
Merosin deficient congenital muscular dystrophy
Metachondromatosis
Metachromatic leukodystrophy
Microcephalic osteodysplastic primordial dwarfism type II
Microcephaly 1, primary, autosomal recessive
Microcephaly 5, primary, autosomal recessive
Microcephaly 6, primary, autosomal recessive
Microcephaly 7, primary, autosomal recessive
Microcephaly, seizures, and developmental delay
Microphthalmia, isolated, with coloboma 5
Migraine
Migraine, familial hemiplegic, 1
Migraine, familial hemiplegic, 2
Migraine, familial hemiplegic, 3
Mitochondrial DNA depletion syndrome 1
Mitochondrial DNA depletion syndrome 4b
Mitochondrial complex I deficiency
Mitochondrial complex II deficiency, nuclear type 1
Mitochondrial complex III deficiency nuclear type 1
Mitochondrial complex IV deficiency, nuclear type 1
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Mosaic variegated aneuploidy syndrome 1
Movement disorder
Mowat-Wilson syndrome
Mucolipidosis type IV
Mucopolysaccharidosis type 6
Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-D
Mucopolysaccharidosis, MPS-IV-B
Muenke syndrome
Multiple acyl-CoA dehydrogenase deficiency
Multiple congenital anomalies
Multiple congenital anomalies-hypotonia-seizures syndrome 2
Multiple mitochondrial dysfunctions syndrome 2
Multiple sulfatase deficiency
Multiple system atrophy
Muscle eye brain disease
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
Mycobacterium tuberculosis, susceptibility to
Myoclonus
Myofibromatosis, infantile, 2
Myopia 6
NDE1-related microhydranencephaly
Narrow forehead
Nausea and vomiting
Neonatal severe primary hyperparathyroidism
Neonatal-onset encephalopathy with rigidity and seizures
Neoplasm of esophagus
Neoplasm of stomach
Nephroblastoma
Nephronophthisis 1
Nephronophthisis 11
Neural tube defect
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
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
Neuronal loss in central nervous system
Nicolaides-Baraitser syndrome
Niemann-Pick disease, type C1
Niemann-Pick disease, type C2
Non-ketotic hyperglycinemia
Non-small cell lung carcinoma
Noonan syndrome 1
Noonan syndrome 3
Noonan syndrome 7
Noonan syndrome-like disorder with loose anagen hair 1
Norman-Roberts syndrome
Nystagmus
Obesity
Open mouth
Ophthalmoparesis
Ophthalmoplegia
Optic atrophy
Orofaciodigital syndrome I
Oto-palato-digital syndrome, type I
Oto-palato-digital syndrome, type II
Ovarian neoplasm
PMM2-congenital disorder of glycosylation
Pallister-Hall syndrome
Paragangliomas 5
Paramyotonia congenita of Von Eulenburg
Paroxysmal extreme pain disorder
Paroxysmal nocturnal hemoglobinuria
Partington syndrome
Pelger-Huët anomaly
Pelizaeus-Merzbacher disease
Pendred syndrome
Periorbital fullness
Periventricular heterotopia with microcephaly, autosomal recessive
Permanent neonatal diabetes mellitus
Peroxisome biogenesis disorder 10A (Zellweger)
Peroxisome biogenesis disorder 13A (Zellweger)
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 5A (Zellweger)
Peroxisome biogenesis disorder 5B
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 9B
Personality disorder
Phytanic acid storage disease
Pigmentary pallidal degeneration
Pili torti-deafness syndrome
Pitt-Hopkins syndrome
Pitt-Hopkins-like syndrome 2
Polymicrogyria with optic nerve hypoplasia
Polymicrogyria, bilateral perisylvian, autosomal recessive
Polysyndactyly 4
Pontocerebellar hypoplasia type 2A
Pontocerebellar hypoplasia type 2B
Pontocerebellar hypoplasia type 2C
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 6
Postaxial polydactyly
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Posteriorly rotated ears
Potassium-aggravated myotonia
Premature chromatid separation trait
Primary adrenocortical insufficiency
Primary erythromelalgia
Primitive reflex
Progressive
Progressive demyelinating neuropathy with bilateral striatal necrosis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive familial heart block, type 1A
Progressive microcephaly
Progressive myoclonic epilepsy
Progressive myoclonic epilepsy type 3
Progressive myoclonic epilepsy type 5
Progressive myoclonic epilepsy type 6
Progressive sclerosing poliodystrophy
Proline dehydrogenase deficiency
Psychotic disorder
Ptosis
Pyridoxal phosphate-responsive seizures
Pyridoxine-dependent epilepsy
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase complex deficiency
RFT1-congenital disorder of glycosylation
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
Recurrent infections
Reduced bone mineral density
Reduced eye contact
Renpenning syndrome
Respiratory failure
Respiratory insufficiency
Retinal degeneration
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinitis pigmentosa
Retinitis pigmentosa 23
Rett syndrome
Rett syndrome, congenital variant
Reynolds syndrome
Rhizomelic chondrodysplasia punctata type 1
Rigidity
SLC35A1-congenital disorder of glycosylation
SUDDEN INFANT DEATH SYNDROME
Salla disease
Sandhoff disease
Schinzel-Giedion syndrome
Schizencephaly
Schizophrenia
Schizophrenia 4
Scoliosis
Seckel syndrome 4
Secondary growth hormone deficiency
Seizure
Seizures, benign familial infantile, 3
Seizures, benign familial neonatal, 1
Seizures, benign familial neonatal, 2
Self-injurious behavior
Senior-Loken syndrome 1
Senior-Loken syndrome 6
Sensorineural hearing loss disorder
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Severe myoclonic epilepsy in infancy
Severe neonatal-onset encephalopathy with microcephaly
Short QT syndrome type 1
Short philtrum
Short toe
Sialic acid storage disease, severe infantile type
Sialidosis type 2
Sialuria
Sick sinus syndrome 1
Sick sinus syndrome 2, autosomal dominant
Simplified gyral pattern
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
Sleep abnormality
Sloping forehead
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Solitary median maxillary central incisor syndrome
Sotos syndrome
Spasticity
Sphingolipid activator protein 1 deficiency
Spinocerebellar ataxia type 6
Spongy degeneration of central nervous system
Squamous cell carcinoma
Status epilepticus
Stereotypic movement disorder
Strabismus, susceptibility to
Succinate-semialdehyde dehydrogenase deficiency
Sulfite oxidase deficiency
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Susceptibility to HIV infection
Symmetrical dyschromatosis of extremities
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 Snyder type
Systemic lupus erythematosus
Tay-Sachs disease
Telecanthus
Temtamy syndrome
Terminal osseous dysplasia-pigmentary defects syndrome
Testicular neoplasm
Tetralogy of Fallot
Tetraplegia
Thanatophoric dysplasia type 1
Thanatophoric dysplasia, type 2
Thick corpus callosum
Thick eyebrow
Thick vermilion border
Thrombophilia
Thyroid cancer, nonmedullary, 2
Tobacco addiction, susceptibility to
Tremor
Tuberous sclerosis 1
Tuberous sclerosis 2
Type 2 diabetes mellitus
Tyrosinemia type III
Unverricht-Lundborg syndrome
Urinary bladder carcinoma
Usher syndrome type 2C
Vanishing white matter disease
Vascular granular osmiophilic material deposition
Velocardiofacial syndrome
Ventricular fibrillation, paroxysmal familial, type 1
Visual hallucination
Walker-Warburg congenital muscular dystrophy
Warburg micro syndrome 1
Weight loss
Wide nasal bridge
Wrinkly skin syndrome
X-linked intellectual disability Cabezas type
X-linked intellectual disability with marfanoid habitus
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
ABAT (16p13.2);
ABCC8 (11p15.1);
ACY1 (3p21.2);
ADAR (1q21.3);
ADGRG1 (16q21)
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
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Who can order: Help
Genetic Counselor
Health Care Provider
Licensed Physician
Test Order Code:
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FT-TP00091
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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Pre-test genetic counseling required:
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Post-test genetic counseling required:
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Recommended fields not provided:
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 729
Condition/Phenotype
Identifier
Test Targets
Genes
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Total genes: 398
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:
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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,
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Description of internal test validation method,
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Major CAP category, CAP category, CAP test list
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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
