- Genetic tests
- Microphthalmia / Anophthalmia / Coloboma-Anterior Segment Dysgenesis (MAC-ASD) (gene panel)
Microphthalmia / Anophthalmia / Coloboma-Anterior Segment Dysgenesis (MAC-ASD) (gene panel)
Full name: |
Microphthalmia / Anophthalmia / Coloboma-Anterior Segment Dysgenesis (MAC-ASD) (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: |
31 Jul 2019 - 11:18
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Changed: |
16 Dec 2022 - 11:33
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- ABCB6
- ACTB
- ACTG1
- ADAMTS17
- ADAMTS18
- ALDH1A3
- ASPH
- ATOH7
- B3GLCT
- BCOR
- BMP4
- BMP7
- C12ORF57
- CAPN15
- CC2D2A
- CDH2
- CDON
- CHD7
- CHRDL1
- CLDN19
- COL4A1
- COX7B
- CPAMD8
- CRIM1
- CRYBA4
- CYP1B1
- DYRK1A
- ERCC1
- ERCC2
- ERCC5
- ERCC6
- EYA1
- FOXC1
- FOXE3
- FOXL2
- FRAS1
- FREM1
- FREM2
- FZD5
- GDF3
- GDF6
- GJA1
- GRIP1
- HCCS
- HESX1
- HMGB3
- HMX1
- IGBP1
- KDM6A
- KIF26B
- KMT2D
- LRP2
- LTBP2
- MAB21L2
- MFRP
- MICU1
- MITF
- MYRF
- NAA10
- NDP
- NHS
- OCRL
- OTX2
- PAX2
- PAX6
- PIGL
- PITX2
- PITX3
- PORCN
- PQBP1
- PRKRA
- PRSS56
- PTCH1
- PUF60
- PXDN
- RAB18
- RAB3GAP1
- RAB3GAP2
- RARB
- RBP4
- RPGRIP1L
- SALL2
- SALL4
- SHH
- SIX3
- SIX6
- SLC38A8
- SMCHD1
- SMOC1
- SOX2
- STRA6
- TBC1D20
- TENM3
- TFAP2A
- TMEM67
- TMEM98
- VAX1
- VSX1
- VSX2
- WDR37
- YAP1
- ZIC2
-
Microphthalmia/Anophthalmia/Coloboma - Anterior Segment Dysgenesis - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCB6 99.97 1 ACTB 100.00 1 ACTG1 100.00 1 ADAMTS17 99.99 1 ADAMTS18 99.99 1 ALDH1A3 99.96 1 ASPH 99.92 1 ATOH7 100.00 1 B3GLCT 99.90 1 BCOR 99.97 1 BMP4 100.00 1 BMP7 100.00 1 C12ORF57 100.00 1 CAPN15 99.98 1 CC2D2A 99.95 1 CDH2 99.84 1 CDON 99.99 1 CHD7 99.99 1 CHRDL1 99.94 1 CLDN19 99.02 1 COL4A1 99.99 1 COX7B 99.86 1 CPAMD8 99.97 1 CRIM1 99.99 1 CRYBA4 100.00 1 CYP1B1 100.00 1 DYRK1A 99.98 1 ERCC1 99.96 1 ERCC2 99.98 1 ERCC5 99.99 1 ERCC6 99.60 1 EYA1 99.81 1 FOXC1 100.00 1 FOXE3 99.29 1 FOXL2 99.97 1 FRAS1 99.97 1 FREM1 99.98 1 FREM2 99.97 1 FZD5 100.00 1 GDF3 100.00 1 GDF6 100.00 1 GJA1 100.00 1 GRIP1 99.83 1 HCCS 99.90 1 HESX1 99.77 1 HMGB3 0.00 1 HMX1 100.00 1 IGBP1 99.90 1 KDM6A 99.74 1 KIF26B 100.00 1 KMT2D 99.98 1 LRP2 99.86 1 LTBP2 99.97 1 MAB21L2 100.00 1 MFRP 100.00 1 MICU1 99.56 1 MITF 99.98 1 MYRF 99.98 1 NAA10 99.99 1 NDP 99.98 1 NHS 99.96 1 OCRL 99.89 1 OTX2 100.00 1 PAX2 99.99 1 PAX6 99.95 1 PIGL 99.98 1 PITX2 99.98 1 PITX3 100.00 1 PORCN 99.93 1 PQBP1 99.99 1 PRSS56 100.00 1 PTCH1 99.99 1 PUF60 100.00 1 PXDN 100.00 1 RAB18 99.76 1 RAB3GAP1 99.73 1 RAB3GAP2 99.69 1 RARB 99.99 1 PRKRA 100.00 1 RBP4 99.99 1 RPGRIP1L 96.35 1 SALL2 100.00 1 SALL4 100.00 1 SHH 100.00 1 SIX3 100.00 1 SIX6 100.00 1 SLC38A8 99.99 1 SMCHD1 99.83 1 SMOC1 100.00 1 SOX2 100.00 1 STRA6 99.95 1 TBC1D20 100.00 1 TENM3 99.99 1 TFAP2A 100.00 1 TMEM67 99.69 1 TMEM98 100.00 1 VAX1 100.00 1 VSX1 99.93 1 VSX2 99.99 1 WDR37 99.94 1 YAP1 99.87 1 ZIC2 100.00 1