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Fulgent Genetics
Retinopathy and Optic Atrophy NGS Panel
Retinopathy and Optic Atrophy 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
ABri amyloidosis
ADan amyloidosis
Abnormal clavicle morphology
Abnormal dental enamel morphology
Abnormal electroretinogram
Abnormal eyelash morphology
Abnormal facial shape
Abnormal hair quantity
Abnormal helix morphology
Abnormal hip bone morphology
Abnormal macular morphology
Abnormal metacarpal morphology
Abnormal metaphysis morphology
Abnormal pelvic girdle bone morphology
Abnormal periventricular white matter morphology
Abnormal pinna morphology
Abnormal retinal vascular morphology
Abnormal rib morphology
Abnormal sternum morphology
Abnormal testis morphology
Abnormality of bone mineral density
Abnormality of eye movement
Abnormality of retinal pigmentation
Abnormality of speech or vocalization
Abnormality of the hypothalamus-pituitary axis
Abnormality of the liver
Accessory oral frenulum
Achondrogenesis type II
Achromatopsia
Achromatopsia 2
Achromatopsia 3
Achromatopsia 4
Adult neuronal ceroid lipofuscinosis
Adult-onset foveomacular vitelliform dystrophy
Age related macular degeneration 1
Age related macular degeneration 4
Age related macular degeneration 6
Alpha-methylacyl-CoA racemase deficiency
Alstrom syndrome
Amblyopia
Aminoaciduria
Amyotrophic lateral sclerosis type 12
Aniridia 1
Anophthalmia/microphthalmia-esophageal atresia syndrome
Anterior segment dysgenesis 3
Anterior segment dysgenesis 4
Anteverted nares
Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the earlobes
Aplasia/Hypoplasia of the lungs
Apnea
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
Atrophia bulborum hereditaria
Attenuation of retinal blood vessels
Atypical scarring of skin
Auditory hallucination
Autosomal dominant inheritance
Autosomal dominant keratitis
Autosomal dominant nonsyndromic hearing loss 11
Autosomal dominant optic atrophy classic form
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 2O
Autosomal recessive nonsyndromic hearing loss 12
Autosomal recessive nonsyndromic hearing loss 18A
Autosomal recessive nonsyndromic hearing loss 2
Autosomal recessive nonsyndromic hearing loss 23
Autosomal recessive nonsyndromic hearing loss 48
Autosomal recessive optic atrophy, OPA7 type
Autosomal recessive spinocerebellar ataxia 7
Avascular necrosis of femoral head, primary, 1
Axenfeld-Rieger syndrome type 1
Axenfeld-Rieger syndrome type 3
Babinski sign
Bardet-Biedl syndrome
Basal laminar drusen
Bell-shaped thorax
Bietti crystalline corneoretinal dystrophy
Bifid tongue
Bone osteosarcoma
Bosch-Boonstra-Schaaf optic atrophy syndrome
Bothnia retinal dystrophy
Brachydactyly
Bradyopsia
Brittle hair
Camptodactyly
Camptodactyly of finger
Cardiomyopathy
Cataract
Cerebellar atrophy
Cerebellar cyst
Cerebellar dysplasia
Cerebellar vermis hypoplasia
Cerebral atrophy
Cerebral cortical atrophy
Ceroid lipofuscinosis, neuronal, 6A
Charcot-Marie-Tooth disease X-linked recessive 5
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 4G
Choanal atresia
Chorioretinal atrophy
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
Cognitive impairment
Coloboma of optic nerve
Color vision defect
Combined oxidative phosphorylation defect type 7
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 hypotrichosis with juvenile macular dystrophy
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Congenital laryngomalacia
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
Constriction of peripheral visual field
Convex nasal ridge
Cranioectodermal dysplasia 4
Cryptorchidism
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
Decreased body weight
Decreased circulating antibody level
Decreased corneal thickness
Delayed speech and language development
Dementia
Dental malocclusion
Depressed nasal ridge
Depression
Developmental and epileptic encephalopathy, 24
Dilated fourth ventricle
Distal sensory impairment
Downslanted palpebral fissures
Doyne honeycomb retinal dystrophy
Dyssynergia
EEM syndrome
Encephalocele
Enhanced S-cone syndrome
Epicanthus
Epiphyseal dysplasia, multiple, 6
Essential hypertension
External genital hypoplasia
Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 2, X-linked
Exudative vitreoretinopathy 5
Factor H deficiency
Familial aplasia of the vermis
Familial benign flecked retina
Familial exudative vitreoretinopathy
Familial isolated deficiency of vitamin E
Febrile seizures, familial, 4
Feeding difficulties in infancy
Fetal growth restriction
Fibrochondrogenesis 1
Finger syndactyly
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
Foot polydactyly
Foveal hypoplasia 1
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Gait disturbance
Genu valgum
Genu varum
Gillespie syndrome
Glaucoma
Glaucoma 1, open angle, A
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
Growth delay
Hamartoma of tongue
Hand polydactyly
Hearing impairment
Helicoid peripapillary chorioretinal degeneration
Hemeralopia
Hemolytic anemia due to hexokinase deficiency
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Hepatocellular carcinoma
Hepatomegaly
Hereditary disease
Hereditary motor and sensory neuropathy with optic atrophy
Hereditary spastic paraplegia 39
Hernia of the abdominal wall
High myopia
High palate
Highly arched eyebrow
Horseshoe kidney
Hydrocephalus
Hyperinsulinemia
Hypertelorism
Hypertensive disorder
Hypertonia
Hypertrichosis
Hypochromic microcytic anemia
Hypogonadism
Hypoplasia of penis
Hypoplastic toenails
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Hyporeflexia
Hyposmia
Hypotonia
Idiopathic CD4 lymphocytopenia
Incoordination
Increased neuronal autofluorescent lipopigment
Infantile cerebellar-retinal degeneration
Intellectual disability
Intervertebral disc disorder
Irido-corneo-trabecular dysgenesis
Iris coloboma
Isolated microcephaly
Isolated microphthalmia 2
Isolated microphthalmia 4
Isolated microphthalmia 5
Isolated optic nerve hypoplasia
Jalili syndrome
Jeune thoracic dystrophy
Joint dislocation
Joint hypermobility
Joint laxity
Joubert syndrome 10
Joubert syndrome 5
Joubert syndrome with renal defect
Juvenile retinoschisis
Kidney damage
Klippel-Feil syndrome 1, autosomal dominant
Kniest dysplasia
Kyphoscoliosis
Lactic acidosis
Late-onset retinal degeneration
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 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
Liver failure
Lobulated tongue
Long QT syndrome
Long face
Low-set, posteriorly rotated ears
Macular atrophy
Macular degeneration, X-linked atrophic
Macular dystrophy
Malar flattening
Malformation of the heart and great vessels
Malignant tumor of urinary bladder
Marshall syndrome
Maturity-onset diabetes of the young type 6
McKusick-Kaufman syndrome
Meckel syndrome, type 1
Meckel syndrome, type 4
Medial flaring of the eyebrow
Median cleft upper lip
Megacolon
Microcephaly and chorioretinopathy 1
Microcornea
Microcornea-myopic chorioretinal atrophy
Micrognathia
Micromelia
Microphthalmia
Microphthalmia, isolated, with coloboma 3
Microphthalmia, isolated, with coloboma 6
Microphthalmia, syndromic 1
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 dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Myoclonus
Myopia
Namaqualand hip dysplasia
Nanophthalmos 2
Narrow chest
Narrow face
Narrow forehead
Nephrocalcinosis
Nephronophthisis
Nephronophthisis 1
Nephronophthisis 12
Nephronophthisis 4
Nephrotic 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
Newfoundland cone-rod dystrophy
Night blindness
Nystagmus
Obesity
Occult macular dystrophy
Ocular albinism, type II
Oculoauricular syndrome
Oculofaciocardiodental syndrome
Oculomotor apraxia
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
Ornithine aminotransferase deficiency
Orofacial cleft
Orofacial-digital syndrome IV
Orofaciodigital syndrome I
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Ovarian neoplasm
PHARC syndrome
Patterned macular dystrophy 1
Pectus excavatum
Peroxisome biogenesis disorder 9B
Pes cavus
Phosphoribosylpyrophosphate synthetase superactivity
Photophobia
Phytanic acid storage disease
Pigmentary pallidal degeneration
Pigmentary retinal dystrophy
Pigmented paravenous retinochoroidal atrophy
Pilomatrixoma
Pituitary hormone deficiency, combined, 6
Platyspondylic dysplasia, Torrance type
Pointed chin
Polycystic ovaries
Polydactyly
Porencephalic cyst
Postaxial foot polydactyly
Postaxial hand polydactyly
Posterior column ataxia-retinitis pigmentosa syndrome
Posterior subcapsular cataract
Posterior vitreous detachment
Preaxial hand polydactyly
Prematurely aged appearance
Primary adrenocortical insufficiency
Primary open angle glaucoma
Progressive myoclonic epilepsy type 3
Progressive retinal dystrophy due to retinol transport defect
Progressive visual loss
Prominent nasal bridge
Prominent nose
Proptosis
Pseudoxanthoma elasticum, forme fruste
Ptosis
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
Recurrent respiratory infections
Reduced visual acuity
Renal coloboma syndrome
Renal hypodysplasia/aplasia 1
Renal hypoplasia/aplasia
Renal insufficiency
Respiratory insufficiency
Retinal atrophy
Retinal cone dystrophy 3A
Retinal cone dystrophy 4
Retinal degeneration
Retinal detachment
Retinal dystrophy
Retinal macular dystrophy type 2
Retinal thinning
Retinitis pigmentosa
Retinitis pigmentosa 1
Retinitis pigmentosa 10
Retinitis pigmentosa 11
Retinitis pigmentosa 12
Retinitis pigmentosa 13
Retinitis pigmentosa 14
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
Retinopathy
Rhizomelic chondrodysplasia punctata type 1
Ring dermoid of cornea
Saldino-Mainzer syndrome
Sandal gap
Sarcotubular myopathy
Scoliosis
Seizure
Senior-Loken syndrome 1
Senior-Loken syndrome 4
Senior-Loken syndrome 5
Senior-Loken syndrome 6
Senior-Loken syndrome 7
Sensorineural hearing loss disorder
Severe early-childhood-onset retinal dystrophy
Severe intellectual disability-progressive spastic diplegia syndrome
Short finger
Short long bone
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
Sorsby fundus dystrophy
Spinocerebellar ataxia type 34
Splenomegaly
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia with metatarsal shortening
Spondylometaphyseal dysplasia
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
Syndromic microphthalmia type 5
TWIST1-related craniosynostosis
Thoracic dysplasia
Thoracic hypoplasia
Toe syndactyly
Tongue nodules
Tooth agenesis
Tremor
Type 2 diabetes mellitus
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
Vascular granular osmiophilic material deposition
Ventricular septal defect
Visual field defect
Visual hallucination
Visual impairment
Vitelliform macular dystrophy
Vitelliform macular dystrophy 2
Vitelliform-like macular lesions
Wagner syndrome
Wide nasal bridge
Widely spaced teeth
Wolfram syndrome 2
X-linked cone-rod dystrophy 1
X-linked cone-rod dystrophy 3
ABCA4 (1p22.1);
ABCC6 (16p13.11);
ABHD12 (20p11.21);
ACBD5 (10p12.1);
ACO2 (22q13.2)
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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-TP01037
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 but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
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: 563
Condition/Phenotype
Identifier
Test Targets
Genes
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Total genes: 241
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
Entire test performed in-house
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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No
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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