- Genetic tests
- Cataract (gene panel)
Cataract (gene panel)
Full name: |
Cataract (gene panel)
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Test type: |
Clinical
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Test specialty: |
Molecular Genetics
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Test purpose: |
Post-natal Diagnosis
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Specimen: |
Peripheral (whole) blood on EDTA
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
Turnaround time (maximum): |
6 months
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Document(s): | |
Created: |
29 Jul 2019 - 11:52
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Changed: |
16 Dec 2022 - 10:39
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- 3-methylglutaconic aciduria type 3
- Autosomal dominant cutis laxa
- Autosomal dominant optic atrophy and cataract
- Autosomal dominant spastic paraplegia type 9A
- Autosomal dominant spastic paraplegia type 9B
- Autosomal dominant vitreoretinochoroidopathy
- Autosomal recessive bestrophinopathy
- Autosomal recessive spastic paraplegia type 9B
- Axenfeld-Rieger syndrome
- BOR syndrome
- Branchiootic syndrome
- Cataract-microcornea syndrome
- Cerebrotendinous xanthomatosis
- Cerulean cataract
- Classic galactosemia
- Cockayne syndrome type 1
- Cockayne syndrome type 2
- Cockayne syndrome type 3
- Coloboma of choroid and retina
- Congenital cataracts-facial dysmorphism-neuropathy syndrome
- Coralliform cataract
- Craniometaphyseal dysplasia
- Dent disease type 2
- Early-onset anterior polar cataract
- Early-onset lamellar cataract
- Early-onset non-syndromic cataract
- Early-onset nuclear cataract
- Early-onset posterior polar cataract
- Early-onset posterior subcapsular cataract
- Early-onset sutural cataract
- Erythrokeratodermia variabilis
- Familial exudative vitreoretinopathy
- Familial isolated dilated cardiomyopathy
- Familial multiple meningioma
- Familial thoracic aortic aneurysm and aortic dissection
- Full schwannomatosis
- Galactokinase deficiency
- Hereditary hyperferritinemia-cataract syndrome
- Hypochondrogenesis
- Hypomyelination-congenital cataract syndrome
- Isolated aniridia
- Isolated congenital sclerocornea
- Isolated optic nerve hypoplasia/aplasia
- Kniest dysplasia
- Knobloch syndrome
- Legg-Calvé-Perthes disease
- Microphthalmia, Lenz type
- Morning glory disc anomaly
- Nance-Horan syndrome
- Oculocerebrorenal syndrome of Lowe
- Oculodentodigital dysplasia
- Otofaciocervical syndrome
- Platyspondylic dysplasia, Torrance type
- Pulverulent cataract
- Rare isolated myopia
- Retinitis pigmentosa
- Retinopathy of prematurity
- Stickler syndrome type 1
- Syndactyly type 3
- Total early-onset cataract
- UV-sensitive syndrome
- ABHD12
- ADAMTSL4
- AGK
- ALDH18A1
- B3GLCT
- BCOR
- BEST1
- BFSP1
- BFSP2
- CHMP4B
- COL11A1
- COL18A1
- COL2A1
- CRYAA
- CRYAB
- CRYBA1
- CRYBA2
- CRYBA4
- CRYBB1
- CRYBB2
- CRYBB3
- CRYGB
- CRYGC
- CRYGD
- CRYGS
- CTDP1
- CYP27A1
- CYP51A1
- DNMBP
- EPG5
- EPHA2
- EYA1
- FBN1
- FOXE3
- FTL
- FYCO1
- FZD4
- GALK1
- GALT
- GCNT2
- GJA1
- GJA3
- GJA8
- HMX1
- HSF4
- HYCC1
- INPP5K
- INTS1
- JAM3
- LCAT
- LEMD2
- LIM2
- LSS
- MAF
- MIPEP
- MIR184
- MYH9
- NDP
- NF2
- NHS
- OCRL
- OPA3
- P3H2
- PANK4
- PAX6
- PITX3
- PXDN
- RRAGA
- SIL1
- SIPA1L3
- SLC16A12
- SLC33A1
- TDRD7
- UNC45B
- VIM
- VSX2
- WFS1
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Cataract - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABHD12 99.98 1 ADAMTSL4 99.66 1 AGK 99.99 1 ALDH18A1 99.96 1 B3GLCT 99.90 1 BCOR 99.97 1 BEST1 99.86 1 BFSP1 100.00 1 BFSP2 99.09 1 CHMP4B 99.96 1 COL11A1 90.72 1 COL18A1 99.99 1 COL2A1 99.87 1 CRYAA 19.49 1 CRYAB 100.00 1 CRYBA1 99.99 1 CRYBA2 100.00 1 CRYBA4 100.00 1 CRYBB1 99.46 1 CRYBB2 99.94 1 CRYBB3 99.99 1 CRYGB 99.99 1 CRYGC 100.00 1 CRYGD 100.00 1 CRYGS 100.00 1 CTDP1 99.97 1 CYP27A1 100.00 1 CYP51A1 97.82 1 DNMBP 99.94 1 EPG5 99.95 1 EPHA2 99.99 1 EYA1 99.81 1 HYCC1 99.81 1 FBN1 99.85 1 FOXE3 99.29 1 FTL 99.99 1 FYCO1 100.00 1 FZD4 100.00 1 GALK1 100.00 1 GALT 100.00 1 GCNT2 100.00 1 GJA1 100.00 1 GJA3 100.00 1 GJA8 99.99 1 HMX1 100.00 1 HSF4 99.98 1 INPP5K 99.94 1 INTS1 100.00 1 JAM3 100.00 1 LCAT 99.97 1 LEMD2 100.00 1 LIM2 100.00 1 LSS 99.98 1 MAF 99.73 1 MIPEP 99.98 1 MIR184 100.00 1 MYH9 99.95 1 NDP 99.98 1 NF2 100.00 1 NHS 99.96 1 OCRL 99.89 1 OPA3 100.00 1 P3H2 99.93 1 PANK4 100.00 1 PAX6 99.95 1 PITX3 100.00 1 PXDN 100.00 1 RRAGA 100.00 1 SIL1 99.95 1 SIPA1L3 99.97 1 SLC16A12 100.00 1 SLC33A1 99.67 1 TDRD7 99.87 1 UNC45B 100.00 1 VIM 100.00 1 VSX2 99.99 1 WFS1 99.99 1