- Genetic tests
- Hearing loss (deafness), (gene panel)
Hearing loss (deafness), (gene panel)
This test requires filling out a specific Application Form available in the "document" field
Full name: |
Hearing loss (deafness), (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: | |
Accreditation (ISO 15189): |
2023-11-09 / 2024-05-08
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Turnaround time (maximum): |
6 months
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Document(s): | |
Created: |
21 Aug 2019 - 08:05
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Changed: |
22 Jan 2024 - 13:53
|
URL: |
- ABHD12
- ACTG1
- ADCY1
- ADGRV1
- AIFM1
- ATOH1
- ATP11A
- ATP2B2
- ATP6V0A4
- ATP6V1B1
- ATP6V1B2
- BDP1
- BSND
- CABP2
- CACNA1D
- CCDC50
- CD164
- CDC14A
- CDH23
- CEACAM16
- CEP250
- CEP78
- CHD7
- CIB2
- CISD2
- CLDN14
- CLIC5
- CLPP
- CLRN1
- COCH
- COL11A1
- COL11A2
- COL2A1
- COL4A3
- COL4A4
- COL4A5
- COL4A6
- COL9A1
- COL9A2
- COL9A3
- CRYL1
- CRYM
- DCDC2
- DIABLO
- DIAPH1
- DIAPH3
- DMXL2
- DNAAF10
- EDN3
- EDNRB
- ELMOD3
- EPHA10
- EPS8
- EPS8L2
- ERAL1
- ESPN
- ESRP1
- ESRRB
- EYA1
- EYA4
- FDXR
- FGF3
- FOXI1
- GATA3
- GIPC3
- GJB2
- GJB3
- GJB6
- GPSM2
- GRHL2
- GRXCR1
- GRXCR2
- GSDME
- HARS1
- HARS2
- HECTD3
- HGF
- HOMER2
- HOXA2
- HSD17B4
- IFNLR1
- ILDR1
- KARS1
- KCNE1
- KCNJ10
- KCNQ1
- KCNQ4
- KITLG
- LARS2
- LHFPL5
- LMX1A
- LOXHD1
- LRTOMT
- MARVELD2
- MCM2
- MET
- MIR96
- MITF
- MPZL2
- MSRB3
- MTAP
- MYH14
- MYH9
- MYO15A
- MYO3A
- MYO6
- MYO7A
- NARS2
- NDP
- NLRP3
- OSBPL2
- OTOA
- OTOF
- OTOG
- OTOGL
- P2RX2
- PAX3
- PCDH15
- PDE1C
- PDZD7
- PI4KB
- PJVK
- PLS1
- PNPT1
- POLR1B
- POLR1C
- POLR1D
- POU3F4
- POU4F3
- PPIP5K2
- PRPS1
- PTPRQ
- RDX
- REST
- RIPOR2
- ROR1
- S1PR2
- SALL1
- SEMA3E
- SERPINB6
- SIX1
- SIX5
- SLC12A2
- SLC17A8
- SLC22A4
- SLC26A4
- SLC26A5
- SLC4A11
- SLC7A8
- SLITRK6
- SMPX
- SNAI2
- SOX10
- SPATC1L
- SSBP1
- STRC
- SYNE4
- TBC1D24
- TCOF1
- TECTA
- THRAP3
- TIMM8A
- TJP2
- TMC1
- TMEM132E
- TMIE
- TMPRSS3
- TMTC2
- TNC
- TPRN
- TRIOBP
- TSPEAR
- TWNK
- USH1C
- USH1G
- USH2A
- USP48
- WBP2
- WFS1
- WHRN
-
Hearing loss (deafness) (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABHD12 99.11 1 ACTG1 100.00 1 ADCY1 98.44 1 ADGRV1 99.88 1 AIFM1 99.43 1 ATOH1 100.00 1 ATP11A 99.99 1 ATP2B2 99.96 1 ATP6V0A4 99.83 1 ATP6V1B1 99.92 1 ATP6V1B2 99.91 1 BDP1 99.89 1 BSND 100.00 1 CABP2 99.99 1 CACNA1D 99.94 1 CCDC50 99.92 1 CD164 99.92 1 CDC14A 99.95 1 CDH23 99.95 1 CEACAM16 99.92 1 CEP250 99.98 1 CEP78 99.83 1 CHD7 99.96 1 CIB2 99.99 1 CISD2 99.95 1 CLDN14 100.00 1 CLIC5 99.98 1 CLPP 100.00 1 CLRN1 99.97 1 COCH 99.90 1 COL11A1 99.89 1 COL11A2 99.35 1 COL2A1 100.00 1 COL4A3 99.94 1 COL4A4 99.96 1 COL4A5 99.18 1 COL4A6 99.37 1 COL9A1 99.98 1 COL9A2 99.95 1 COL9A3 99.86 1 CRYL1 99.89 1 CRYM 99.91 1 DCDC2 99.93 1 DIABLO 99.98 1 DIAPH1 97.50 1 DIAPH3 99.86 1 DMXL2 99.40 1 DNAAF10 99.97 1 EDN3 100.00 1 EDNRB 99.94 1 ELMOD3 100.00 1 EPHA10 97.51 1 EPS8 99.87 1 EPS8L2 99.87 1 ERAL1 99.97 1 ESPN 96.05 1 ESRP1 99.81 1 ESRRB 100.00 1 EYA1 99.93 1 EYA4 99.98 1 FDXR 99.98 1 FGF3 98.11 1 FOXI1 100.00 1 GATA3 99.89 1 GIPC3 97.45 1 GJB2 100.00 1 GJB3 100.00 1 GJB6 100.00 1 GPSM2 99.94 1 GRHL2 99.95 1 GRXCR1 100.00 1 GRXCR2 99.91 1 GSDME 99.97 1 HARS1 99.99 1 HARS2 99.51 1 HECTD3 99.39 1 HGF 99.96 1 HOMER2 99.74 1 HOXA2 99.93 1 HSD17B4 99.80 1 IFNLR1 99.52 1 ILDR1 99.95 1 KARS1 99.91 1 KCNE1 100.00 1 KCNJ10 100.00 1 KCNQ1 99.87 1 KCNQ4 99.49 1 KITLG 99.87 1 LARS2 99.99 1 LHFPL5 99.99 1 LMX1A 100.00 1 LOXHD1 99.73 1 LRTOMT 99.99 1 MARVELD2 99.96 1 MCM2 99.96 1 MET 99.97 1 MIR96 100.00 1 MITF 99.97 1 MPZL2 99.96 1 MSRB3 99.96 1 MTAP 98.96 1 MYH14 99.79 1 MYH9 100.00 1 MYO15A 99.59 1 MYO3A 99.84 1 MYO6 99.77 1 MYO7A 99.99 1 NARS2 99.94 1 NDP 99.95 1 NLRP3 99.90 1 OSBPL2 100.00 1 OTOA 99.83 1 OTOF 99.95 1 OTOG 99.99 1 OTOGL 99.63 1 P2RX2 99.91 1 PAX3 99.98 1 PCDH15 99.94 1 PDE1C 99.92 1 PDZD7 99.82 1 PI4KB 99.55 1 PJVK 99.79 1 PLS1 99.80 1 PNPT1 99.86 1 POLR1B 99.95 1 POLR1C 97.52 1 POLR1D 99.72 1 POU3F4 99.94 1 POU4F3 100.00 1 PPIP5K2 99.83 1 PRPS1 99.79 1 PTPRQ 99.83 1 RDX 99.80 1 REST 99.96 1 RIPOR2 99.96 1 ROR1 98.58 1 S1PR2 100.00 1 SALL1 99.99 1 SEMA3E 99.97 1 SERPINB6 98.21 1 SIX1 100.00 1 SIX5 99.87 1 SLC12A2 98.96 1 SLC17A8 99.95 1 SLC22A4 99.96 1 SLC26A4 99.95 1 SLC26A5 99.95 1 SLC4A11 99.99 1 SLC7A8 99.99 1 SLITRK6 100.00 1 SMPX 99.37 1 SNAI2 99.98 1 SOX10 100.00 1 SPATC1L 100.00 1 SSBP1 99.99 1 STRC 99.73 1 SYNE4 100.00 1 TBC1D24 99.97 1 TCOF1 99.96 1 TECTA 99.97 1 THRAP3 99.89 1 TIMM8A 99.78 1 TJP2 99.94 1 TMC1 99.83 1 TMEM132E 99.75 1 TMIE 99.95 1 TMPRSS3 99.95 1 TMTC2 99.96 1 TNC 99.97 1 TPRN 90.56 1 TRIOBP 99.09 1 TSPEAR 99.97 1 TWNK 100.00 1 USH1C 98.72 1 USH1G 99.96 1 USH2A 99.95 1 USP48 99.80 1 WBP2 99.86 1 WFS1 100.00 1 WHRN 99.69 1