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Fulgent Genetics
Comprehensive Eye Disorders NGS Panel
Comprehensive Eye Disorders NGS Panel
At a Glance
Diagnosis;
Mutation Confirmation
Age related macular degeneration 2;
11p partial monosomy syndrome;
3-Methylglutaconic aciduria type 3
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Age related macular degeneration 2
11p partial monosomy syndrome
3-Methylglutaconic aciduria type 3
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria, type VIIB
ABri amyloidosis
ADan amyloidosis
Abetalipoproteinaemia
Abnormal clavicle morphology
Abnormal dental enamel morphology
Abnormal electroretinogram
Abnormal eyelash morphology
Abnormal facial shape
Abnormal female external genitalia morphology
Abnormal foot morphology
Abnormal hair quantity
Abnormal helix morphology
Abnormal hip bone morphology
Abnormal localization of kidney
Abnormal lower motor neuron morphology
Abnormal lung lobation
Abnormal macular morphology
Abnormal metacarpal morphology
Abnormal metaphysis morphology
Abnormal morphology of female internal genitalia
Abnormal palate morphology
Abnormal pelvic girdle bone morphology
Abnormal periventricular white matter morphology
Abnormal pinna morphology
Abnormal pyramidal sign
Abnormal renal tubule morphology
Abnormal retinal vascular morphology
Abnormal rib morphology
Abnormal saccadic eye movements
Abnormal speech pattern
Abnormal sternum morphology
Abnormal testis morphology
Abnormality of bone mineral density
Abnormality of extrapyramidal motor function
Abnormality of eye movement
Abnormality of macular pigmentation
Abnormality of retinal pigmentation
Abnormality of the hypothalamus-pituitary axis
Abnormality of the larynx
Abnormality of the liver
Abnormality of the spleen
Abnormality of visual evoked potentials
Accessory oral frenulum
Achondrogenesis type II
Achromatopsia
Achromatopsia 2
Achromatopsia 3
Achromatopsia 4
Acrocallosal syndrome
Aculeiform cataract
Adrenoleukodystrophy
Adult neuronal ceroid lipofuscinosis
Adult-onset foveomacular vitelliform dystrophy
Age related macular degeneration 1
Age related macular degeneration 4
Age related macular degeneration 5
Age related macular degeneration 6
Aggressive behavior
Aicardi-Goutieres syndrome 1
Alagille syndrome due to a JAG1 point mutation
Aland island eye disease
Alpha-methylacyl-CoA racemase deficiency
Alstrom syndrome
Amblyopia
Aminoaciduria
Amyloidosis, hereditary systemic 1
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis type 12
Aniridia 1
Annular pancreas
Anophthalmia
Anophthalmia-microphthalmia syndrome
Anophthalmia/microphthalmia-esophageal atresia syndrome
Anterior segment dysgenesis 1
Anterior segment dysgenesis 3
Anterior segment dysgenesis 4
Anterior segment dysgenesis 7
Anteverted nares
Apathy
Aplasia/Hypoplasia affecting the eye
Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the earlobes
Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the pancreas
Apnea
Apnea, central sleep
Arterial calcification, generalized, of infancy, 2
Arts syndrome
Asphyxiating thoracic dystrophy 1
Asphyxiating thoracic dystrophy 4
Asphyxiating thoracic dystrophy 5
Astigmatism
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
Ataxia-hypogonadism-choroidal dystrophy syndrome
Atrioventricular septal defect and common atrioventricular junction
Atrophia bulborum hereditaria
Attenuation of retinal blood vessels
Atypical scarring of skin
Auditory hallucination
Autism
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Autosomal dominant inheritance
Autosomal dominant keratitis
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
Autosomal dominant nonsyndromic hearing loss 11
Autosomal dominant nonsyndromic hearing loss 3A
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal dominant nonsyndromic hearing loss 6
Autosomal dominant optic atrophy classic form
Autosomal dominant osteopetrosis 1
Autosomal dominant vitreoretinochoroidopathy
Autosomal recessive bestrophinopathy
Autosomal recessive early-onset Parkinson disease 6
Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive limb-girdle muscular dystrophy type 2K
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive nonsyndromic hearing loss 12
Autosomal recessive nonsyndromic hearing loss 18A
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 2
Autosomal recessive nonsyndromic hearing loss 23
Autosomal recessive nonsyndromic hearing loss 48
Autosomal recessive nonsyndromic hearing loss 77
Autosomal recessive optic atrophy, OPA7 type
Autosomal recessive proximal renal tubular acidosis
Autosomal recessive spinocerebellar ataxia 7
Avascular necrosis of femoral head, primary, 1
Avellino corneal dystrophy
Axenfeld-Rieger syndrome type 1
Axenfeld-Rieger syndrome type 3
BNAR syndrome
Babinski sign
Baraitser-Winter syndrome
Bardet-Biedl syndrome
Basal laminar drusen
Bell-shaped thorax
Bicornuate uterus
Bietti crystalline corneoretinal dystrophy
Bifid tongue
Blepharophimosis, ptosis, and epicanthus inversus syndrome
Blindness
Bone mineral density quantitative trait locus 1
Bone osteosarcoma
Bosch-Boonstra-Schaaf optic atrophy syndrome
Bothnia retinal dystrophy
Brachycephaly
Brachydactyly
Bradyopsia
Brain small vessel disease 1 with or without ocular anomalies
Brainstem dysplasia
Branchiooculofacial syndrome
Branchiootic syndrome 1
Branchiootorenal syndrome 1
Brittle cornea syndrome 1
Brittle cornea syndrome 2
Brittle hair
Broad nasal tip
Bulbar palsy
CHARGE syndrome
CHIME syndrome
COACH syndrome 1
Camptodactyly
Camptodactyly of finger
Cardiomyopathy
Carpal tunnel syndrome
Cataract
Cataract 1 multiple types
Cataract 10 multiple types
Cataract 11 multiple types
Cataract 12 multiple types
Cataract 14 multiple types
Cataract 15 multiple types
Cataract 16 multiple types
Cataract 17 multiple types
Cataract 18
Cataract 19 multiple types
Cataract 2, multiple types
Cataract 20 multiple types
Cataract 21 multiple types
Cataract 22 multiple types
Cataract 23
Cataract 3 multiple types
Cataract 30
Cataract 31 multiple types
Cataract 33
Cataract 36
Cataract 38
Cataract 39 multiple types
Cataract 40
Cataract 41
Cataract 5 multiple types
Cataract 6 multiple types
Cataract 9 multiple types
Cerebellar atrophy
Cerebellar cyst
Cerebellar dysplasia
Cerebellar vermis hypoplasia
Cerebral atrophy
Cerebral cortical atrophy
Cerebrooculofacioskeletal syndrome 1
Cerebrooculofacioskeletal syndrome 2
Cerebrooculofacioskeletal syndrome 4
Ceroid lipofuscinosis, neuronal, 6A
Charcot-Marie-Tooth disease X-linked recessive 5
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4G
Chilblain lupus 1
Childhood-onset truncal obesity
Choanal atresia
Chorioretinal atrophy
Chorioretinal coloboma
Chorioretinal dysplasia
Choroidal dystrophy, central areolar 2
Choroideremia
Chronic kidney disease
Cleft palate
Cleft upper lip
Clinodactyly
Clinodactyly of the 5th finger
Cobalamin C disease
Cockayne syndrome type 2
Cognitive impairment
Cohen syndrome
Coloboma of optic nerve
Coloboma, ocular, autosomal recessive
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Color vision defect
Combined oxidative phosphorylation defect type 7
Complex cortical dysplasia with other brain malformations 1
Conductive hearing impairment
Cone dystrophy
Cone dystrophy 3
Cone dystrophy 4
Cone dystrophy with supernormal rod response
Cone-rod dystrophy
Cone-rod dystrophy 10
Cone-rod dystrophy 11
Cone-rod dystrophy 12
Cone-rod dystrophy 13
Cone-rod dystrophy 15
Cone-rod dystrophy 16
Cone-rod dystrophy 18
Cone-rod dystrophy 2
Cone-rod dystrophy 3
Cone-rod dystrophy 5
Cone-rod dystrophy 6
Cone-rod dystrophy 7
Cone-rod dystrophy 9
Cone-rod synaptic disorder, congenital nonprogressive
Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped epiphysis
Congenital bile acid synthesis defect 4
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Congenital diaphragmatic hernia
Congenital fibrosis of extraocular muscles type 1
Congenital generalized lipodystrophy type 3
Congenital hepatic fibrosis
Congenital hereditary endothelial dystrophy of cornea
Congenital hip dislocation
Congenital hypotrichosis with juvenile macular dystrophy
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Congenital laryngomalacia
Congenital ocular coloboma
Congenital primary aphakia
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Congenital stationary night blindness
Congenital stationary night blindness 1B
Congenital stationary night blindness 1C
Congenital stationary night blindness 1D
Congenital stationary night blindness 1E
Congenital stationary night blindness 2A
Congenital stationary night blindness autosomal dominant 1
Congenital stationary night blindness autosomal dominant 2
Congenital stationary night blindness autosomal dominant 3
Congenital stromal corneal dystrophy
Constriction of peripheral visual field
Convex nasal ridge
Cornea plana 2
Corneal dystrophy
Corneal dystrophy, Fuchs endothelial, 1
Corneal dystrophy, Fuchs endothelial, 4
Corneal dystrophy, Fuchs endothelial, 6
Corneal dystrophy, Meesmann, 1
Corneal dystrophy, lattice type 3A
Corneal dystrophy-perceptive deafness syndrome
Corneal opacity
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Coxa vara
Cranioectodermal dysplasia 4
Craniofacial anomalies and anterior segment dysgenesis syndrome
Craniometaphyseal dysplasia, autosomal recessive
Cryptorchidism
Cupped ribs
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
DE SANCTIS-CACCHIONE SYNDROME
Deafness dystonia syndrome
Decreased body weight
Decreased circulating antibody concentration
Decreased corneal thickness
Decreased muscle mass
Decreased response to growth hormone stimulation test
Decreased testicular size
Deeply set eye
Deficiency of galactokinase
Delayed speech and language development
Dementia
Dent disease type 2
Dental malocclusion
Depressed nasal bridge
Depressed nasal ridge
Depression
Desbuquois dysplasia 1
Developmental and epileptic encephalopathy, 24
Developmental cataract
Developmental malformations-deafness-dystonia syndrome
Developmental regression
Dilated cardiomyopathy 1II
Dilated fourth ventricle
Disinhibited behavior
Distal sensory impairment
Downslanted palpebral fissures
Doyne honeycomb retinal dystrophy
Duane retraction syndrome 2
Duane-radial ray syndrome
Duodenal atresia
Dysarthria
Dyschromatosis universalis hereditaria 3
Dysgenesis of the cerebellar vermis
Dysphagia
Dyssynergia
EEM syndrome
Ehlers-Danlos syndrome, classic type
Elongated superior cerebellar peduncle
Encephalocele
Enhanced S-cone syndrome
Enlarged fossa interpeduncularis
Epicanthus
Epiphyseal dysplasia, multiple, 6
Episodic tachypnea
Epithelial basement membrane dystrophy
Esotropia
Essential hypertension
Exotropia
External genital hypoplasia
Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 2, X-linked
Exudative vitreoretinopathy 4
Exudative vitreoretinopathy 5
Facial palsy
Factor H deficiency
Familial aplasia of the vermis
Familial benign flecked retina
Familial exudative vitreoretinopathy
Familial isolated deficiency of vitamin E
Familial porencephaly
Fasciculations
Febrile seizures, familial, 4
Feeding difficulties
Feeding difficulties in infancy
Femoral bowing
Fetal growth restriction
Fibrochondrogenesis 1
Fibrosis of extraocular muscles, congenital, 2
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
Finger syndactyly
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
Finnish type amyloidosis
Fish-eye disease
Fleck corneal dystrophy
Flexion contracture
Focal dermal hypoplasia
Foot polydactyly
Foveal hypoplasia 1
Frank-Ter Haar syndrome
Fraser syndrome 1
Frontoparietal polymicrogyria
Frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Fuchs' endothelial dystrophy
GNPTG-mucolipidosis
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Gait disturbance
Gaze palsy, familial horizontal, with progressive scoliosis 1
Gelatinous droplike corneal dystrophy
Genu valgum
Genu varum
Gillespie syndrome
Glaucoma
Glaucoma 1, open angle, A
Glaucoma 1, open angle, G
Glaucoma 1, open angle, O
Glaucoma 3, primary congenital, D
Glaucoma 3, primary infantile, B
Glaucoma 3A
Glaucoma, normal tension, susceptibility to
Global developmental delay
Glucose intolerance
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Groenouw corneal dystrophy type I
Growth delay
Hamartoma of tongue
Hand polydactyly
Hearing impairment
Helicoid peripapillary chorioretinal degeneration
Hemeralopia
Hemifacial spasm
Hemolytic anemia due to hexokinase deficiency
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Hemorrhage, intracerebral, susceptibility to
Hepatocellular carcinoma
Hepatomegaly
Hereditary disease
Hereditary hyperferritinemia with congenital cataracts
Hereditary motor and sensory neuropathy with optic atrophy
Hereditary spastic paraplegia 39
Hereditary spastic paraplegia 42
Hereditary spastic paraplegia 7
Hernia of the abdominal wall
Hidrotic ectodermal dysplasia syndrome
High myopia
High palate
Highly arched eyebrow
Hirsutism
Holoprosencephaly 2
Holoprosencephaly 3
Holoprosencephaly 4
Holoprosencephaly 5
Holoprosencephaly 9
Horseshoe kidney
Human HOXA1 syndromes
Huppke-Brendel syndrome
Hydrocephalus
Hydrolethalus syndrome 2
Hyperactivity
Hyperimmunoglobulin D with periodic fever
Hyperinsulinemia
Hyperlordosis
Hypermetropia
Hypertelorism
Hypertensive disorder
Hyperthyroxinemia, dystransthyretinemic
Hypertonia
Hypertrichosis
Hyphema
Hypochromic microcytic anemia
Hypogonadism
Hypogonadotropic hypogonadism 5 with or without anosmia
Hypomyelination and Congenital Cataract
Hypoplasia of penis
Hypoplasia of scrotum
Hypoplasia of the brainstem
Hypoplasia of the corpus callosum
Hypoplastic inferior ilia
Hypoplastic left atrium
Hypoplastic left heart syndrome 1
Hypoplastic toenails
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Hyporeflexia
Hyposmia
Hypospadias
Hypotonia
Ichthyosis, hystrix-like, with hearing loss
Idiopathic CD4 lymphocytopenia
Impaired smooth pursuit
Incoordination
Increased neuronal autofluorescent lipopigment
Infantile cerebellar-retinal degeneration
Infantile nephronophthisis
Intellectual disability
Intellectual disability, moderate
Intellectual disability, severe
Intervertebral disc disorder
Irido-corneo-trabecular dysgenesis
Iris coloboma
Isolated hereditary congenital facial paralysis
Isolated microcephaly
Isolated microphthalmia 2
Isolated microphthalmia 3
Isolated microphthalmia 4
Isolated microphthalmia 5
Isolated microphthalmia 6
Isolated microphthalmia 7
Isolated optic nerve hypoplasia
Jalili syndrome
Jeune thoracic dystrophy
Joint dislocation
Joint hypermobility
Joint laxity
Joint stiffness
Joubert syndrome 10
Joubert syndrome 13
Joubert syndrome 14
Joubert syndrome 15
Joubert syndrome 16
Joubert syndrome 3
Joubert syndrome 5
Joubert syndrome 6
Joubert syndrome 7
Joubert syndrome 8
Joubert syndrome 9
Joubert syndrome with renal defect
Junctional epidermolysis bullosa, non-Herlitz type
Juvenile cataract-microcornea-renal glucosuria syndrome
Juvenile retinoschisis
Kahrizi syndrome
Keratoconus 1
Kidney damage
Klippel-Feil syndrome 1, autosomal dominant
Klippel-Feil syndrome 3, autosomal dominant
Kniest dysplasia
Knobloch syndrome
Knuckle pads, deafness AND leukonychia syndrome
Kyphoscoliosis
Kyphosis
L-ferritin deficiency
LCAT deficiency
Lactic acidosis
Language disorder
Large hyperpigmented retinal spots
Late-onset retinal degeneration
Lattice corneal dystrophy Type I
Leber congenital amaurosis 1
Leber congenital amaurosis 10
Leber congenital amaurosis 11
Leber congenital amaurosis 12
Leber congenital amaurosis 13
Leber congenital amaurosis 14
Leber congenital amaurosis 15
Leber congenital amaurosis 16
Leber congenital amaurosis 17
Leber congenital amaurosis 2
Leber congenital amaurosis 3
Leber congenital amaurosis 4
Leber congenital amaurosis 5
Leber congenital amaurosis 6
Leber congenital amaurosis 7
Leber congenital amaurosis 8
Leber congenital amaurosis 9
Legg-Calve-Perthes disease
Leigh syndrome
Lens subluxation
Leukocoria
Limitation of joint mobility
Linear skin defects with multiple congenital anomalies 1
Liver failure
Lobulated tongue
Long QT syndrome
Long face
Long philtrum
Low anterior hairline
Low-set ears
Low-set, posteriorly rotated ears
Lowe syndrome
Lung carcinoma
MORM syndrome
Macrocephaly
Macroglossia
Macrotia
Macular atrophy
Macular corneal dystrophy
Macular degeneration, X-linked atrophic
Macular dystrophy
Malar flattening
Malformation of the heart and great vessels
Malignant tumor of urinary bladder
Marinesco-Sjögren syndrome
Marshall syndrome
Martsolf syndrome
Matthew-Wood syndrome
Maturity-onset diabetes of the young type 6
McKusick-Kaufman syndrome
Meckel syndrome, type 1
Meckel syndrome, type 10
Meckel syndrome, type 3
Meckel syndrome, type 4
Meckel syndrome, type 5
Meckel syndrome, type 6
Meckel syndrome, type 8
Meckel syndrome, type 9
Medial flaring of the eyebrow
Median cleft upper lip
Megacolon
Melanoma, cutaneous malignant, susceptibility to, 8
Metabolic syndrome X
Metaphyseal cupping
Metaphyseal irregularity
Metaphyseal widening
Mevalonic aciduria
Microcephaly and chorioretinopathy 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Microcornea
Microcornea-myopic chorioretinal atrophy
Micrognathia
Micromelia
Micropenis
Microphthalmia
Microphthalmia with brain and digit anomalies
Microphthalmia with limb anomalies
Microphthalmia, isolated, with coloboma 3
Microphthalmia, isolated, with coloboma 5
Microphthalmia, isolated, with coloboma 6
Microphthalmia, isolated, with coloboma 7
Microphthalmia, syndromic 1
Microphthalmia, syndromic 11
Microspherophakia
Midface retrusion
Mitochondrial DNA depletion syndrome 1
Mitochondrial DNA depletion syndrome 4b
Mitochondrial DNA depletion syndrome 8a
Mitochondrial complex I deficiency
Moderately reduced visual acuity
Molar tooth sign on MRI
Motor delay
Mucopolysaccharidosis, MPS-III-C
Multicystic kidney dysplasia
Multiple congenital anomalies
Multiple epiphyseal dysplasia, Beighton type
Muscle eye brain disease
Muscular atrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Mutilating keratoderma
Mutism
Myoclonus
Myopia
NPHP3-related Meckel-like syndrome
Nail-patella syndrome
Namaqualand hip dysplasia
Nance-Horan syndrome
Nanophthalmos 2
Narrow chest
Narrow face
Narrow forehead
Narrow greater sciatic notch
Narrow mouth
Neonatal breathing dysregulation
Neonatal hypotonia
Nephrocalcinosis
Nephronophthisis
Nephronophthisis 1
Nephronophthisis 11
Nephronophthisis 12
Nephronophthisis 3
Nephronophthisis 4
Nephrotic syndrome
Neuroferritinopathy
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
Neutropenia
Newfoundland cone-rod dystrophy
Night blindness
Nystagmus
Obesity
Occipital myelomeningocele
Occult macular dystrophy
Ocular albinism with congenital sensorineural hearing loss
Oculoauricular syndrome
Oculodentodigital dysplasia
Oculodentodigital dysplasia, autosomal recessive
Oculofaciocardiodental syndrome
Oculomotor apraxia
Oculootoradial syndrome
Oculotrichoanal syndrome
Ogden syndrome
Oguchi disease
Oguchi disease-2
Oligohydramnios
Ophthalmoparesis
Optic atrophy
Optic atrophy 3
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Optic disc pallor
Optic nerve hypoplasia
Ornithine aminotransferase deficiency
Orofacial cleft
Orofacial cleft 11
Orofacial-digital syndrome IV
Orofaciodigital syndrome I
Osteopenia
Osteoporosis with pseudoglioma
Otofaciocervical syndrome 1
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Ovarian neoplasm
Ovoid vertebral bodies
PHARC syndrome
Palmoplantar keratoderma-deafness syndrome
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Patterned macular dystrophy 1
Pectus excavatum
Pendular nystagmus
Peripheral neuropathy
Peripheral vitreoretinal degeneration
Peroxisome biogenesis disorder 10A (Zellweger)
Peroxisome biogenesis disorder 11A (Zellweger)
Peroxisome biogenesis disorder 11B
Peroxisome biogenesis disorder 12A (Zellweger)
Peroxisome biogenesis disorder 13A (Zellweger)
Peroxisome biogenesis disorder 14B
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 6A (Zellweger)
Peroxisome biogenesis disorder 6B
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 8A (Zellweger)
Peroxisome biogenesis disorder 8B
Peroxisome biogenesis disorder 9B
Persistent hyperplastic primary vitreous
Persistent pupillary membrane
Personality changes
Pes cavus
Pes planus
Phosphoribosylpyrophosphate synthetase superactivity
Photophobia
Phthisis bulbi
Phytanic acid storage disease
Pigmentary pallidal degeneration
Pigmentary retinal dystrophy
Pigmented paravenous retinochoroidal atrophy
Pilomatrixoma
Pitt-Hopkins syndrome
Pituitary hormone deficiency, combined, 6
Platyspondylic dysplasia, Torrance type
Pointed chin
Polycystic kidney disease
Polycystic ovaries
Polydactyly
Polydactyly of a biphalangeal thumb
Polymorphous corneal dystrophy
Porencephalic cyst
Porencephaly-microcephaly-bilateral congenital cataract syndrome
Porokeratosis 3, disseminated superficial actinic type
Postaxial foot polydactyly
Postaxial hand polydactyly
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Posterior column ataxia-retinitis pigmentosa syndrome
Posterior polymorphous corneal dystrophy 2
Posterior polymorphous corneal dystrophy 3
Posterior retinal neovascularization
Posterior subcapsular cataract
Posterior synechiae of the anterior chamber
Posterior vitreous detachment
Posteriorly rotated ears
Postmenopausal osteoporosis
Precocious puberty
Premature ovarian failure 3
Prematurely aged appearance
Primary adrenocortical insufficiency
Primary open angle glaucoma
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive myoclonic epilepsy type 3
Progressive myositis ossificans
Progressive retinal dystrophy due to retinol transport defect
Progressive sclerosing poliodystrophy
Progressive visual loss
Proliferative vitreoretinopathy
Prominent forehead
Prominent nasal bridge
Prominent nose
Proptosis
Protruding tongue
Pseudoexfoliation glaucoma
Pseudoxanthoma elasticum, forme fruste
Ptosis
Pulmonary hypertension, primary, 3
Pulmonary hypoplasia
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
Recurrent infections
Recurrent otitis media
Recurrent respiratory infections
Reduced visual acuity
Reis-Bucklers' corneal dystrophy
Renal coloboma syndrome
Renal cyst
Renal hypodysplasia/aplasia 1
Renal hypomagnesemia 5 with ocular involvement
Renal hypoplasia
Renal hypoplasia/aplasia
Renal insufficiency
Renal-hepatic-pancreatic dysplasia 1
Renpenning syndrome
Respiratory insufficiency
Retinal atrophy
Retinal cone dystrophy 3A
Retinal cone dystrophy 4
Retinal degeneration
Retinal detachment
Retinal disorder
Retinal dysplasia
Retinal dystrophy
Retinal fold
Retinal macular dystrophy type 2
Retinal nonattachment
Retinal thinning
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinitis pigmentosa
Retinitis pigmentosa 1
Retinitis pigmentosa 10
Retinitis pigmentosa 11
Retinitis pigmentosa 12
Retinitis pigmentosa 13
Retinitis pigmentosa 14
Retinitis pigmentosa 17
Retinitis pigmentosa 18
Retinitis pigmentosa 19
Retinitis pigmentosa 2
Retinitis pigmentosa 20
Retinitis pigmentosa 23
Retinitis pigmentosa 25
Retinitis pigmentosa 26
Retinitis pigmentosa 27
Retinitis pigmentosa 28
Retinitis pigmentosa 3
Retinitis pigmentosa 30
Retinitis pigmentosa 31
Retinitis pigmentosa 33
Retinitis pigmentosa 35
Retinitis pigmentosa 36
Retinitis pigmentosa 37
Retinitis pigmentosa 38
Retinitis pigmentosa 39
Retinitis pigmentosa 4
Retinitis pigmentosa 40
Retinitis pigmentosa 41
Retinitis pigmentosa 42
Retinitis pigmentosa 43
Retinitis pigmentosa 44
Retinitis pigmentosa 45
Retinitis pigmentosa 46
Retinitis pigmentosa 47
Retinitis pigmentosa 48
Retinitis pigmentosa 49
Retinitis pigmentosa 50
Retinitis pigmentosa 51
Retinitis pigmentosa 54
Retinitis pigmentosa 55
Retinitis pigmentosa 56
Retinitis pigmentosa 57
Retinitis pigmentosa 58
Retinitis pigmentosa 59
Retinitis pigmentosa 60
Retinitis pigmentosa 61
Retinitis pigmentosa 62
Retinitis pigmentosa 66
Retinitis pigmentosa 7
Retinitis pigmentosa 9
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Retinoblastoma
Retrognathia
Rhizomelia
Rhizomelic chondrodysplasia punctata type 1
Ring dermoid of cornea
SRD5A3-congenital disorder of glycosylation
Saldino-Mainzer syndrome
Sandal gap
Sarcotubular myopathy
Schizencephaly
Schnyder crystalline corneal dystrophy
Sclerocornea
Scoliosis
Scoliosis, isolated, susceptibility to, 3
Secondary microcephaly
Seizure
Self-mutilation
Sengers syndrome
Senior-Loken syndrome 1
Senior-Loken syndrome 4
Senior-Loken syndrome 5
Senior-Loken syndrome 6
Senior-Loken syndrome 7
Sensorimotor neuropathy
Sensorineural hearing loss disorder
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Septo-optic dysplasia sequence
Severe early-childhood-onset retinal dystrophy
Severe intellectual disability-progressive spastic diplegia syndrome
Severe platyspondyly
Shallow anterior chamber
Short finger
Short long bone
Short metacarpal
Short neck
Short nose
Short philtrum
Short ribs
Short thorax
Short tibia
Short toe
Sideroblastic anemia
Simplified gyral pattern
Simpson-Golabi-Behmel syndrome type 2
Situs inversus
Skeletal dysplasia
Sloping forehead
Small cell lung carcinoma
Smooth philtrum
Snowflake vitreoretinal degeneration
Solitary median maxillary central incisor syndrome
Sorsby fundus dystrophy
Spastic ataxia 4
Spastic tetraplegia
Spasticity
Spinal canal stenosis
Spinocerebellar ataxia 7
Spinocerebellar ataxia type 14
Spinocerebellar ataxia type 34
Splenomegaly
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia with metatarsal shortening
Spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Spondyloperipheral dysplasia
Stargardt disease 3
Stargardt disease 4
Steppage gait
Stickler syndrome type 1
Stickler syndrome type 2
Stickler syndrome, type 4
Stickler syndrome, type I, nonsyndromic ocular
Strabismus, susceptibility to
Syndactyly
Syndactyly type 3
Syndromic microphthalmia
Syndromic microphthalmia type 5
Systemic lupus erythematosus
TWIST1-related craniosynostosis
Temtamy syndrome
Tetralogy of Fallot
Thiel-Behnke corneal dystrophy
Thoracic dysplasia
Thoracic hypoplasia
Tibial bowing
Tietz syndrome
Toe syndactyly
Tongue nodules
Tooth agenesis
Tremor
Triangular-shaped open mouth
Trichothiodystrophy 1, photosensitive
Trigonocephaly 2
Truncal obesity
Type 2 diabetes mellitus
UV-sensitive syndrome 1
Undetectable electroretinogram
Upslanted palpebral fissure
Urogenital fistula
Usher syndrome type 1
Usher syndrome type 1C
Usher syndrome type 1D
Usher syndrome type 1F
Usher syndrome type 1G
Usher syndrome type 1J
Usher syndrome type 2A
Usher syndrome type 2C
Usher syndrome type 3
Usher syndrome type 3B
Uveal coloboma-cleft lip and palate-intellectual disability
Uveitis
Van Buchem disease type 2
Vascular granular osmiophilic material deposition
Ventricular septal defect
Vesicoureteral reflux
Visual field defect
Visual hallucination
Visual impairment
Visual loss
Vitelliform macular dystrophy
Vitelliform macular dystrophy 2
Vitelliform-like macular lesions
Vitreous hemorrhage
Waardenburg syndrome type 2A
Wagner syndrome
Walker-Warburg congenital muscular dystrophy
Warburg micro syndrome
Warburg micro syndrome 1
Warburg micro syndrome 2
Warburg micro syndrome 3
Weill-Marchesani syndrome 3
Wide nasal bridge
Widely spaced teeth
Wolfram syndrome
Wolfram syndrome 2
Wolfram-like syndrome
Worth disease
X-linked cone-rod dystrophy 1
X-linked cone-rod dystrophy 3
X-linked mixed hearing loss with perilymphatic gusher
Xeroderma pigmentosum, group D
Xeroderma pigmentosum, group G
growth hormone deficiency with short stature
partial sensorineural deafness
ABCA4 (1p22.1);
ABCB6 (2q35);
ABCC6 (16p13.11);
ABCD1 (Xq28);
ABHD12 (20p11.21)
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-TP00095
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: 1018
Condition/Phenotype
Identifier
Test Targets
Genes
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Total genes: 459
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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