- Genetic tests
- Inherited Kidney Diseases (Gene Panel)
Inherited Kidney Diseases (Gene Panel)
Full name: |
Inherited Kidney Diseases (Gene Panel)
|
Description: |
New version of Inherited Kidney Disorders based on exome filtration |
Test type: |
Clinical
|
Test specialty: |
Molecular Genetics
|
Test purpose: |
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis,
Predictive and Pre-symptomatic diagnosis,
Prenatal diagnosis
|
Specimen: |
DNA,
Peripheral (whole) blood on EDTA
|
Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
EQA: |
|
Turnaround time (maximum): |
4 - 6 months
|
Document(s): | |
Created: |
23 Dec 2022 - 10:15
|
Changed: |
16 Jan 2024 - 15:11
|
- ACE
- ACTG2
- ACTN4
- ADAMTS13
- ADAMTS9
- ADCY10
- AGT
- AGTR1
- AGXT
- ALDOB
- ALG5
- ALG8
- ALG9
- ALMS1
- ALPL
- AMN
- ANKS6
- ANLN
- ANOS1
- AP2S1
- APOA1
- APOL1
- APRT
- AQP2
- ARHGAP24
- ARHGDIA
- ARL6
- ATP6V0A4
- ATP6V1B1
- ATP7B
- ATXN10
- AVIL
- AVPR2
- B2M
- B9D1
- B9D2
- BBIP1
- BBS1
- BBS10
- BBS12
- BBS2
- BBS4
- BBS5
- BBS7
- BBS9
- BICC1
- BMP4
- BMP7
- BNC2
- BSND
- C3
- CA2
- CASR
- CC2D2A
- CCNQ
- CD151
- CD2AP
- CD46
- CDC5L
- CDC73
- CENPF
- CEP164
- CEP290
- CEP41
- CEP55
- CEP83
- CFB
- CFH
- CFHR1
- CFHR3
- CFHR5
- CFI
- CHD1L
- CHD7
- CHRM3
- CHRNA3
- CLCN5
- CLCNKA
- CLCNKB
- CLDN10
- CLDN16
- CLDN19
- CNNM2
- COL4A1
- COL4A3
- COL4A4
- COL4A5
- COL4A6
- COQ2
- COQ6
- COQ8A
- COQ8B
- CRB2
- CSPP1
- CTNS
- CTU2
- CUBN
- CUL3
- CYP24A1
- DAAM2
- DCDC2
- DGKE
- DHCR7
- DIS3L2
- DMP1
- DNAJB11
- DSTYK
- DYNC2H1
- DZIP1L
- EGF
- EGFR
- EHHADH
- EMP2
- EYA1
- FAH
- FAM20A
- FAN1
- FAT1
- FGA
- FGF20
- FGF23
- FH
- FLCN
- FN1
- FRAS1
- FREM1
- FREM2
- FXYD2
- G6PC1
- GALT
- GANAB
- GATA3
- GATM
- GLA
- GLI3
- GLIS2
- GNA11
- GPC3
- GREB1L
- GRHPR
- GRIP1
- GSN
- HAAO
- HNF1B
- HNF4A
- HOGA1
- HOXA13
- HPRT1
- HPSE2
- HSD11B2
- IFT122
- IFT140
- IFT172
- IFT27
- IFT80
- INF2
- INVS
- IQCB1
- ITGA3
- ITGA8
- JAG1
- KANK1
- KANK2
- KANK4
- KCNA1
- KCNJ1
- KCNJ10
- KCNJ16
- KDM6A
- KL
- KLHL3
- KMT2D
- KYNU
- LAMA5
- LAMB2
- LIFR
- LMX1B
- LRIG2
- LRP2
- LRP4
- LRP5
- LRP6
- LYZ
- LZTFL1
- MAGED2
- MAGI2
- MAPKBP1
- MET
- MKKS
- MKS1
- MMACHC
- MUC1
- MYH9
- MYO1E
- MYOCD
- NADSYN1
- NEK8
- NHERF1
- NIPBL
- NOTCH2
- NPHP1
- NPHP3
- NPHP4
- NPHS1
- NPHS2
- NR3C2
- NRIP1
- NUP107
- NUP133
- NUP160
- NUP205
- NUP85
- NUP93
- NXF5
- OCRL
- OFD1
- PAX2
- PBX1
- PCBD1
- PDE6D
- PDSS2
- PHEX
- PKD1
- PKD2
- PKHD1
- PLCE1
- PLG
- PLVAP
- PMM2
- PODXL
- PRKCSH
- PTPRO
- REN
- RET
- ROBO1
- ROBO2
- ROR2
- RPGRIP1L
- RRAGD
- RRM2B
- SALL1
- SARS2
- SCARB2
- SCNN1A
- SCNN1B
- SCNN1G
- SDCCAG8
- SDHB
- SDHD
- SEC61A1
- SEC63
- SGPL1
- SIX1
- SIX2
- SIX5
- SLC12A1
- SLC12A3
- SLC1A1
- SLC22A12
- SLC26A1
- SLC26A3
- SLC2A2
- SLC2A9
- SLC34A1
- SLC34A3
- SLC3A1
- SLC41A1
- SLC4A1
- SLC4A4
- SLC5A2
- SLC6A19
- SLC7A7
- SLC7A9
- SLIT2
- SMARCAL1
- SOX17
- STRA6
- STX16
- TBC1D1
- TBC1D8B
- TBX18
- TCTN2
- TCTN3
- TFAP2A
- THBD
- TMEM138
- TMEM216
- TMEM231
- TMEM237
- TMEM260
- TMEM67
- TRAP1
- TRIM32
- TRIM8
- TRPC6
- TRPM6
- TSC1
- TSC2
- TTC21B
- TTC8
- TTR
- TULP3
- UMOD
- UPK3A
- VHL
- VIPAS39
- VPS33B
- WBP11
- WDPCP
- WDR19
- WDR35
- WDR73
- WNK1
- WNK4
- WNT4
- WNT5A
- WT1
- XDH
- XPNPEP3
- XPO5
- ZIC3
- ZMYM2
- ZNF423
-
Panel Nephro-ULG-V1
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACE 97.24 0 , ACTG2 100.00 0 , ACTN4 100.00 0 , ADAMTS13 96.63 0 , ADAMTS9 100.00 0 , ADCY10 100.00 0 , AGT 100.00 0 , AGTR1 100.00 0 , AGXT 100.00 0 , ALDOB 100.00 0 , ALG5 100.00 0 , ALG8 100.00 0 , ALG9 99.28 0 , ALMS1 100.00 0 , ALPL 100.00 0 , AMN 86.23 0 , ANKS6 91.46 0 , ANLN 100.00 0 , ANOS1 94.70 0 , AP2S1 100.00 0 , APOA1 100.00 0 , APOL1 100.00 0 , APRT 100.00 0 , AQP2 100.00 0 , ARHGAP24 99.80 0 , ARHGDIA 100.00 0 , ARL6 100.00 0 , ATP6V0A4 100.00 0 , ATP6V1B1 100.00 0 , ATP7B 100.00 0 , ATXN10 99.92 0 , AVIL 100.00 0 , AVPR2 100.00 0 , B2M 100.00 0 , B9D1 100.00 0 , B9D2 100.00 0 , BBIP1 100.00 0 , BBS1 100.00 0 , BBS10 100.00 0 , BBS12 100.00 0 , BBS2 100.00 0 , BBS4 100.00 0 , BBS5 100.00 0 , BBS7 100.00 0 , BBS9 100.00 0 , BICC1 99.81 0 , BMP4 100.00 0 , BMP7 100.00 0 , BNC2 100.00 0 , BSND 100.00 0 , C3 100.00 0 , CA2 100.00 0 , CASR 100.00 0 , CC2D2A 100.00 0 , CD151 100.00 0 , CD2AP 100.00 0 , CD46 100.00 0 , CDC5L 100.00 0 , CDC73 100.00 0 , CENPF 100.00 0 , CEP164 100.00 0 , CEP290 99.95 0 , CEP41 100.00 0 , CEP55 100.00 0 , CEP83 100.00 0 , CFB 100.00 0 , CFH 100.00 0 , CFHR1 95.06 0 , CFHR3 99.44 0 , CFHR5 100.00 0 , CFI 100.00 0 , CHD1L 99.95 0 , CHD7 100.00 0 , CHRM3 100.00 0 , CHRNA3 99.35 0 , CLCN5 100.00 0 , CLCNKA 100.00 0 , CLCNKB 100.00 0 , CLDN10 100.00 0 , CLDN16 100.00 0 , CLDN19 100.00 0 , CNNM2 99.42 0 , COL4A1 99.52 0 , COL4A3 99.47 0 , COL4A4 100.00 0 , COL4A5 99.90 0 , COL4A6 99.82 0 , COQ2 95.50 0 , COQ6 100.00 0 , COQ8A 100.00 0 , COQ8B 100.00 0 , CRB2 94.59 0 , CSPP1 100.00 0 , CTNS 100.00 0 , CTU2 98.44 0 , CUBN 100.00 0 , CUL3 100.00 0 , CYP24A1 100.00 0 , DAAM2 100.00 0 , DCDC2 100.00 0 , DGKE 100.00 0 , DHCR7 99.99 0 , DIS3L2 100.00 0 , DMP1 100.00 0 , DNAJB11 100.00 0 , DSTYK 100.00 0 , DYNC2H1 99.97 0 , DZIP1L 100.00 0 , EGF 100.00 0 , EGFR 99.63 0 , EHHADH 100.00 0 , EMP2 100.00 0 , EYA1 100.00 0 , FAH 100.00 0 , FAM20A 99.78 0 , CCNQ 82.12 0 , FAN1 100.00 0 , FAT1 100.00 0 , FGA 100.00 0 , FGF20 99.13 0 , FGF23 100.00 0 , FH 100.00 0 , FLCN 100.00 0 , FN1 99.98 0 , FRAS1 100.00 0 , FREM1 100.00 0 , FREM2 100.00 0 , FXYD2 100.00 0 , G6PC1 100.00 0 , GALT 100.00 0 , GANAB 100.00 0 , GATA3 100.00 0 , GATM 100.00 0 , GLA 100.00 0 , GLI3 100.00 0 , GLIS2 100.00 0 , GNA11 99.87 0 , GPC3 99.84 0 , GREB1L 100.00 0 , GRHPR 100.00 0 , GRIP1 100.00 0 , GSN 100.00 0 , HAAO 100.00 0 , HNF1B 100.00 0 , HNF4A 100.00 0 , HOGA1 100.00 0 , HOXA13 71.26 0 , HPRT1 97.10 0 , HPSE2 100.00 0 , HSD11B2 78.40 0 , IFT122 100.00 0 , IFT140 99.96 0 , IFT172 100.00 0 , IFT27 100.00 0 , IFT80 100.00 0 , INF2 99.98 0 , INVS 100.00 0 , IQCB1 100.00 0 , ITGA3 99.70 0 , ITGA8 99.76 0 , JAG1 99.83 0 , KANK1 100.00 0 , KANK2 100.00 0 , KANK4 100.00 0 , KCNA1 100.00 0 , KCNJ1 100.00 0 , KCNJ10 100.00 0 , KCNJ16 100.00 0 , KDM6A 99.90 0 , KL 95.50 0 , KLHL3 100.00 0 , KMT2D 100.00 0 , KYNU 99.98 0 , LAMA5 98.59 0 , LAMB2 100.00 0 , LIFR 100.00 0 , LMX1B 100.00 0 , LRIG2 99.95 0 , LRP2 100.00 0 , LRP4 99.14 0 , LRP5 97.83 0 , LRP6 100.00 0 , LYZ 100.00 0 , LZTFL1 100.00 0 , MAGED2 99.94 0 , MAGI2 93.63 0 , MAPKBP1 100.00 0 , MET 100.00 0 , MKKS 100.00 0 , MKS1 100.00 0 , MMACHC 100.00 0 , MUC1 100.00 0 , MYH9 100.00 0 , MYO1E 100.00 0 , MYOCD 100.00 0 , NADSYN1 100.00 0 , NEK8 100.00 0 , NIPBL 100.00 0 , NOTCH2 100.00 0 , NPHP1 100.00 0 , NPHP3 99.73 0 , NPHP4 100.00 0 , NPHS1 100.00 0 , NPHS2 100.00 0 , NR3C2 100.00 0 , NRIP1 100.00 0 , NUP107 100.00 0 , NUP133 100.00 0 , NUP160 100.00 0 , NUP205 100.00 0 , NUP85 100.00 0 , NUP93 100.00 0 , NXF5 0.00 0 , OCRL 99.96 0 , OFD1 100.00 0 , PAX2 100.00 0 , PBX1 100.00 0 , PCBD1 92.70 0 , PDE6D 100.00 0 , PDSS2 100.00 0 , PHEX 98.98 0 , PKD1 96.86 0 , PKD2 92.32 0 , PKHD1 100.00 0 , PLCE1 100.00 0 , PLG 100.00 0 , PLVAP 100.00 0 , PMM2 100.00 0 , PODXL 90.59 0 , PRKCSH 100.00 0 , PTPRO 100.00 0 , REN 100.00 0 , RET 99.35 0 , ROBO1 100.00 0 , ROBO2 100.00 0 , ROR2 98.01 0 , RPGRIP1L 99.18 0 , RRAGD 99.90 0 , RRM2B 100.00 0 , SALL1 100.00 0 , SARS2 100.00 0 , SCARB2 100.00 0 , SCNN1A 100.00 0 , SCNN1B 100.00 0 , SCNN1G 100.00 0 , SDCCAG8 100.00 0 , SDHB 100.00 0 , SDHD 100.00 0 , SEC61A1 100.00 0 , SEC63 99.95 0 , SGPL1 99.92 0 , SIX1 100.00 0 , SIX2 100.00 0 , SIX5 93.51 0 , SLC12A1 100.00 0 , SLC12A3 100.00 0 , SLC1A1 100.00 0 , SLC22A12 100.00 0 , SLC26A1 100.00 0 , SLC26A3 100.00 0 , SLC2A2 100.00 0 , SLC2A9 100.00 0 , SLC34A1 100.00 0 , SLC34A3 100.00 0 , SLC3A1 100.00 0 , SLC41A1 100.00 0 , SLC4A1 100.00 0 , SLC4A4 100.00 0 , SLC5A2 100.00 0 , SLC6A19 100.00 0 , SLC7A7 100.00 0 , SLC7A9 100.00 0 , NHERF1 100.00 0 , SLIT2 99.95 0 , SMARCAL1 100.00 0 , SOX17 99.26 0 , STRA6 100.00 0 , STX16 100.00 0 , TBC1D1 100.00 0 , TBC1D8B 100.00 0 , TBX18 99.84 0 , TCTN2 100.00 0 , TCTN3 100.00 0 , TFAP2A 100.00 0 , THBD 100.00 0 , TMEM138 100.00 0 , TMEM216 100.00 0 , TMEM231 100.00 0 , TMEM237 100.00 0 , TMEM260 97.92 0 , TMEM67 100.00 0 , TRAP1 95.57 0 , TRIM32 100.00 0 , TRIM8 100.00 0 , TRPC6 100.00 0 , TRPM6 100.00 0 , TSC1 100.00 0 , TSC2 100.00 0 , TTC21B 50.00 0 , TTC8 100.00 0 , TTR 100.00 0 , TULP3 100.00 0 , UMOD 100.00 0 , UPK3A 100.00 0 , VHL 100.00 0 , VIPAS39 100.00 0 , VPS33B 100.00 0 , WBP11 100.00 0 , WDPCP 100.00 0 , WDR19 100.00 0 , WDR35 100.00 0 , WDR73 100.00 0 , WNK1 100.00 0 , WNK4 100.00 0 , WNT4 93.15 0 , WNT5A 88.79 0 , WT1 95.16 0 , XDH 100.00 0 , XPNPEP3 100.00 0 , XPO5 99.80 0 , ZIC3 100.00 0 , ZMYM2 99.97 0 , ZNF423 100.00 0 ,