Belgian Genetic Tests database- Genetic tests
- Nephropathies, hereditary (gene panel)
Nephropathies, hereditary (gene panel)
| Full name: |
Nephropathies, hereditary (gene panel)
|
| Test type: |
Clinical
|
| Test specialty: |
Molecular Genetics
|
| Test purpose: |
Post-natal Diagnosis
|
| Specimen: |
Peripheral (whole) blood on EDTA
|
| Method category: | |
| Method technique: | |
| Laboratory: | |
| RIZIV code: | |
| Turnaround time (maximum): |
4 - 6 months
|
| Document(s): |
Nefro aanvraagformulier -KUL_0.pdf657.38 KB
|
| Created: |
22 Jul 2019 - 10:18
|
| Changed: |
20 Sep 2022 - 16:53
|
| URL: |
- ABCD1
- ACE
- ACTA2
- ACTG2
- ACTN4
- AGTR1
- AGXT
- ALG8
- ALG9
- ANKS6
- ANLN
- ANOS1
- AP2S1
- APOA1
- APOA2
- APOC2
- APOE
- APRT
- AQP2
- ARHGDIA
- ATP6V0A4
- ATP6V1B1
- AVPR2
- BMP4
- BNC2
- BSND
- C3
- CA2
- CACNA1H
- CASR
- CD2AP
- CD46
- CDC73
- CDK20
- CEP83
- CFB
- CFH
- CFHR1
- CFHR3
- CFHR5
- CFI
- CHRM3
- CHRNA3
- CLCN2
- CLCN5
- CLCNKA
- CLCNKB
- CLDN10
- CLDN16
- CLDN19
- CNNM2
- COL4A1
- COL4A3
- COL4A4
- COL4A5
- COQ2
- COQ6
- COQ8B
- CRB2
- CTNS
- CUBN
- CUL3
- CYP11B1
- CYP11B2
- CYP17A1
- CYP24A1
- DGKE
- DLEC1
- DNAJB11
- DSTYK
- DZIP1L
- EGF
- EHHADH
- EMP2
- EYA1
- FAM20A
- FAN1
- FAT1
- FGA
- FGF20
- FGF23
- FN1
- FOXC1
- FOXC2
- FOXI1
- FRAS1
- FREM1
- FREM2
- FXYD2
- GANAB
- GATA3
- GATM
- GDNF
- GLA
- GLIS2
- GNA11
- GREB1L
- GRHPR
- GRIP1
- GSN
- HNF1A
- HNF1B
- HNF4A
- HOGA1
- HOXA13
- HPRT1
- HPSE2
- HSD11B2
- IFT81
- INF2
- INVS
- ITGA8
- ITSN1
- ITSN2
- JAG1
- KANK2
- KCNA1
- KCNJ1
- KCNJ10
- KCNJ5
- KL
- KLHL3
- LAMB2
- LCAT
- LDHD
- LHX1
- LMX1B
- LRIG2
- LRP2
- LYZ
- MAGED2
- MAGI2
- MAPKBP1
- MMACHC
- MOCOS
- MUC1
- MYH11
- MYH9
- MYO1E
- MYOCD
- NEK9
- NLRP3
- NOTCH2
- NPHP1
- NPHP3
- NPHP4
- NPHS1
- NPHS2
- NR3C1
- NR3C2
- NUP107
- NUP133
- NUP160
- NUP85
- NUP93
- OCRL
- OFD1
- PAX2
- PBX1
- PCBD1
- PHEX
- PKD1
- PKD2
- PKHD1
- PLCE1
- PODXL
- PRPS1
- REN
- RET
- ROBO2
- SALL1
- SARS2
- SCARB2
- SCNN1A
- SCNN1B
- SCNN1G
- SDCCAG8
- SEC61A1
- SGPL1
- SIX1
- SIX5
- SLC12A1
- SLC12A3
- SLC22A12
- SLC2A2
- SLC2A9
- SLC34A1
- SLC34A3
- SLC3A1
- SLC4A1
- SLC4A4
- SLC5A2
- SLC7A9
- SMARCAL1
- TBC1D8B
- TBX18
- THBD
- TNS2
- TRAF3IP1
- TRAP1
- TRPC6
- TRPM6
- TSC1
- TSC2
- TTC21B
- TTR
- UMOD
- VHL
- WDR19
- WDR72
- WFS1
- WNK1
- WNK4
- WNT4
- WT1
- XDH
- XPNPEP3
-
Nephropathies, hereditary (218 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACE 95.00 0 NM_000789.3/ interpretable range CS1>95% ACTA2 95.00 0 NM_001613.3/ interpretable range CS1>95% ACTG2 95.00 0 NM_001615.3/ interpretable range CS1>95% ACTN4 95.00 0 NM_004924.5/ interpretable range CS1>95% AGXT 95.00 0 NM_000030.2/ interpretable range CS1>95% AGTR1 95.00 0 NM_031850.3/ interpretable range CS1>95% ALG8 95.00 0 NM_024079.4/ interpretable range CS1>95% ALG9 95.00 0 NM_024740.2/ interpretable range CS1>95% ABCD1 95.00 0 NM_030943.3/ interpretable range CS1>95% ANKS6 95.00 0 NM_173551.4/ interpretable range CS1>95% ANLN 95.00 0 NM_018685.4/ interpretable range CS1>95% ANOS1 95.00 0 NM_000216.3/ interpretable range CS1>95% AP2S1 95.00 0 NM_004069.4/ interpretable range CS1>95% APOA1 95.00 0 NM_000039.2/ interpretable range CS1>95% APOA2 95.00 0 NM_001643.1/ interpretable range CS1>95% APOC2 95.00 0 NM_000483.4/ interpretable range CS1>95% APOE 95.00 0 NM_000041.3/ interpretable range CS1>95% APRT 95.00 0 NM_000485.2/ interpretable range CS1>95% AQP2 95.00 0 NM_000486.5/ interpretable range CS1>95% ARHGDIA 95.00 0 NM_001185077.2/ interpretable range CS1>95% ATP6V0A4 95.00 0 NM_020632.2/ interpretable range CS1>95% ATP6V1B1 95.00 0 NM_001692.3/ interpretable range CS1>95% NLRP3 95.00 0 NM_000490.4/ interpretable range CS1>95% AVPR2 95.00 0 NM_000054.4/ interpretable range CS1>95% BMP4 95.00 0 NM_001202.5/ interpretable range CS1>95% BNC2 95.00 0 NM_017637.5/ interpretable range CS1>95% BSND 95.00 0 NM_057176.2/ interpretable range CS1>95% C3 95.00 0 NM_000064.3/ interpretable range CS1>95% CA2 95.00 0 NM_000067.2/ interpretable range CS1>95% CACNA1H 95.00 0 NM_021098.2/ interpretable range CS1>95% CASR 95.00 0 NM_000388.3/ interpretable range CS1>95% CD2AP 95.00 0 NM_012120.2/ interpretable range CS1>95% CD46 95.00 0 NM_002389.4/ interpretable range CS1>95% CDC73 95.00 0 NM_024529.4/ interpretable range CS1>95% CDK20 95.00 0 NM_001039803.2/ interpretable range CS1>95% CEP83 95.00 0 NM_016122.2/ interpretable range CS1>95% CFB 95.00 0 NM_001710.5/ interpretable range CS1>95% CFH 95.00 0 NM_000186.3/ interpretable range CS1>95% CFHR1 95.00 0 NM_002113.2/ interpretable range CS1>95% CFHR3 95.00 0 NM_021023.5/ interpretable range CS1>95% CFHR5 95.00 0 NM_030787.3/ interpretable range CS1>95% CFI 95.00 0 NM_000204.4/ interpretable range CS1>95% CHRM3 95.00 0 NM_000740.3/ interpretable range CS1>95% CHRNA3 95.00 0 NM_000743.4/ interpretable range CS1>95% CLCN2 95.00 0 NM_004366.5/ interpretable range CS1>95% CLCN5 95.00 0 NM_000084.4/ interpretable range CS1>95% CLCNKA 95.00 0 NM_004070.3/ interpretable range CS1>95% CLCNKB 95.00 0 NM_000085.4/ interpretable range CS1>95% CLDN10 95.00 0 NM_006984.4/ interpretable range CS1>95% CLDN16 95.00 0 NM_006580.3/ interpretable range CS1>95% CLDN19 95.00 0 NM_148960.2/ interpretable range CS1>95% CNNM2 95.00 0 NM_017649.4/ interpretable range CS1>95% COL4A1 95.00 0 NM_001845.5/ interpretable range CS1>95% COL4A3 95.00 0 NM_000091.4/ interpretable range CS1>95% COL4A4 95.00 0 NM_000092.4/ interpretable range CS1>95% COL4A5 95.00 0 NM_000495.4/ interpretable range CS1>95% COQ2 95.00 0 NM_015697.8/ interpretable range CS1>95% COQ6 95.00 0 NM_182476.2/ interpretable range CS1>95% COQ8B 95.00 0 NM_024876.3/ interpretable range CS1>95% CRB2 95.00 0 NM_173689.6/ interpretable range CS1>95% CTNS 95.00 0 NM_004937.2/ interpretable range CS1>95% CUBN 95.00 0 NM_001081.3/ interpretable range CS1>95% CUL3 95.00 0 NM_003590.4/ interpretable range CS1>95% CYP11B1 95.00 0 NM_000497.3/ interpretable range CS1>95% CYP11B2 95.00 0 NM_000498.3/ interpretable range CS1>95% CYP17A1 95.00 0 NM_000102.3/ interpretable range CS1>95% CYP24A1 95.00 0 NM_000782.4/ interpretable range CS1>95% DGKE 95.00 0 NM_003647.2/ interpretable range CS1>95% DLEC1 95.00 0 NM_182643.2/ interpretable range CS1>95% DNAJB11 95.00 0 NM_016306.5/ interpretable range CS1>95% DSTYK 95.00 0 NM_015375.2/ interpretable range CS1>95% DZIP1L 95.00 0 NM_173543.2/ interpretable range CS1>95% EGF 95.00 0 NM_001963.5/ interpretable range CS1>95% EHHADH 95.00 0 NM_001966.3/ interpretable range CS1>95% EMP2 95.00 0 NM_001424.5/ interpretable range CS1>95% EYA1 95.00 0 NM_000503.5/ interpretable range CS1>95% FAM20A 95.00 0 NM_017565.3/ interpretable range CS1>95% FAN1 95.00 0 NM_014967.4/ interpretable range CS1>95% FAT1 95.00 0 NM_005245.3/ interpretable range CS1>95% FGA 95.00 0 NM_021871.3/ interpretable range CS1>95% FGF20 95.00 0 NM_019851.2/ interpretable range CS1>95% FGF23 95.00 0 NM_020638.2/ interpretable range CS1>95% FN1 95.00 0 NM_212482.2/ interpretable range CS1>95% FOXC1 95.00 0 NM_001453.2/ interpretable range CS1>95% FOXC2 95.00 0 NM_005251.2/ interpretable range CS1>95% FOXI1 95.00 0 NM_012188.4/ interpretable range CS1>95% FRAS1 95.00 0 NM_025074.6/ interpretable range CS1>95% FREM1 95.00 0 NM_144966.5/ interpretable range CS1>95% FREM2 95.00 0 NM_207361.5/ interpretable range CS1>95% FXYD2 95.00 0 NM_001680.4/ interpretable range CS1>95% GANAB 95.00 0 NM_198335.3/ interpretable range CS1>95% GATA3 95.00 0 NM_001002295.1/ interpretable range CS1>95% GATM 95.00 0 NM_001482.2/ interpretable range CS1>95% GDNF 95.00 0 NM_000514.3/ interpretable range CS1>95% GLA 95.00 0 NM_000169.2/ interpretable range CS1>95% GLIS2 95.00 0 NM_032575.2/ interpretable range CS1>95% GNA11 95.00 0 NM_002067.4/ interpretable range CS1>95% GREB1L 95.00 0 NM_001142966.2/ interpretable range CS1>95% GRHPR 95.00 0 NM_012203.1/ interpretable range CS1>95% GRIP1 95.00 0 NM_021150.3/ interpretable range CS1>95% GSN 95.00 0 NM_000177.4/ interpretable range CS1>95% HNF1A 95.00 0 NM_000545.6/ interpretable range CS1>95% HNF1B 95.00 0 NM_000458.3/ interpretable range CS1>95% HNF4A 95.00 0 NM_175914.4/ interpretable range CS1>95% HOGA1 95.00 0 NM_138413.3/ interpretable range CS1>95% HOXA13 95.00 0 NM_000522.4/ interpretable range CS1>95% HPRT1 95.00 0 NM_000194.2/ interpretable range CS1>95% HPSE2 95.00 0 NM_021828.4/ interpretable range CS1>95% HSD11B2 95.00 0 NM_000196.3/ interpretable range CS1>95% IFT81 95.00 0 NM_014055.3/ interpretable range CS1>95% INF2 95.00 0 NM_022489.3/ interpretable range CS1>95% INVS 95.00 0 NM_014425.4/ interpretable range CS1>95% ITGA8 95.00 0 NM_003638.2/ interpretable range CS1>95% ITSN1 95.00 0 NM_003024.2/ interpretable range CS1>95% ITSN2 95.00 0 NM_147152.2/ interpretable range CS1>95% JAG1 95.00 0 NM_000214.2/ interpretable range CS1>95% KANK2 95.00 0 NM_001136191.2/ interpretable range CS1>95% KCNA1 95.00 0 NM_000217.2/ interpretable range CS1>95% KCNJ1 95.00 0 NM_000220.4/ interpretable range CS1>95% KCNJ10 95.00 0 NM_002241.4/ interpretable range CS1>95% KCNJ5 95.00 0 NM_000890.4/ interpretable range CS1>95% KL 95.00 0 NM_004795.3/ interpretable range CS1>95% KLHL3 95.00 0 NM_017415.2/ interpretable range CS1>95% LAMB2 95.00 0 NM_002292.3/ interpretable range CS1>95% LCAT 95.00 0 NM_000229.1/ interpretable range CS1>95% LDHD 95.00 0 NM_153486.3/ interpretable range CS1>95% LHX1 95.00 0 NM_005568.4/ interpretable range CS1>95% LMX1B 95.00 0 NM_002316.3/ interpretable range CS1>95% LRIG2 95.00 0 NM_014813.2/ interpretable range CS1>95% LRP2 95.00 0 NM_004525.2/ interpretable range CS1>95% LYZ 95.00 0 NM_000239.2/ interpretable range CS1>95% MAGED2 95.00 0 NM_177433.2/ interpretable range CS1>95% MAGI2 95.00 0 NM_012301.3/ interpretable range CS1>95% MAPKBP1 95.00 0 NM_001128608.1/ interpretable range CS1>95% MMACHC 95.00 0 NM_015506.2/ interpretable range CS1>95% MOCOS 95.00 0 NM_017947.3/ interpretable range CS1>95% MUC1 95.00 0 NM_002456.5/ interpretable range CS1>95% MYH11 95.00 0 NM_002474.2/ interpretable range CS1>95% MYH9 95.00 0 NM_002473.5/ interpretable range CS1>95% MYO1E 95.00 0 NM_004998.3/ interpretable range CS1>95% MYOCD 95.00 0 NM_001146312.2/ interpretable range CS1>95% NEK9 95.00 0 NM_178170.2/ interpretable range CS1>95% NOTCH2 95.00 0 NM_024408.3/ interpretable range CS1>95% NPHP1 95.00 0 NM_000272.3/ interpretable range CS1>95% NPHP3 95.00 0 NM_153240.4/ interpretable range CS1>95% NPHP4 95.00 0 NM_015102.4/ interpretable range CS1>95% NPHS1 95.00 0 NM_004646.3/ interpretable range CS1>95% NPHS2 95.00 0 NM_014625.3/ interpretable range CS1>95% NR3C1 95.00 0 NM_001018077.1/ interpretable range CS1>95% NR3C2 95.00 0 NM_000901.4/ interpretable range CS1>95% NUP107 95.00 0 NM_020401.3/ interpretable range CS1>95% NUP133 95.00 0 NM_018230.2/ interpretable range CS1>95% NUP160 95.00 0 NM_015231.2/ interpretable range CS1>95% NUP85 95.00 0 NM_024844.4/ interpretable range CS1>95% NUP93 95.00 0 NM_014669.4/ interpretable range CS1>95% OCRL 95.00 0 NM_000276.3/ interpretable range CS1>95% OFD1 95.00 0 NM_003611.2/ interpretable range CS1>95% PAX2 95.00 0 NM_003987.4/ interpretable range CS1>95% PBX1 95.00 0 NM_002585.3/ interpretable range CS1>95% PCBD1 95.00 0 NM_000281.3/ interpretable range CS1>95% PHEX 95.00 0 NM_000444.5/ interpretable range CS1>95% PKD1 95.00 0 NM_001009944.2/ interpretable range CS1>95% PKD2 95.00 0 NM_000297.3/ interpretable range CS1>95% PKHD1 95.00 0 NM_138694.3/ interpretable range CS1>95% PLCE1 95.00 0 NM_016341.3/ interpretable range CS1>95% PODXL 95.00 0 NM_005397.3/ interpretable range CS1>95% PRPS1 95.00 0 NM_002764.3/ interpretable range CS1>95% REN 95.00 0 NM_000537.3/ interpretable range CS1>95% RET 95.00 0 NM_020975.5/ interpretable range CS1>95% ROBO2 95.00 0 NM_002942.4/ interpretable range CS1>95% SALL1 95.00 0 NM_002968.2/ interpretable range CS1>95% SARS2 95.00 0 NM_017827.3/ interpretable range CS1>95% SCARB2 95.00 0 NM_005506.3/ interpretable range CS1>95% SCNN1A 95.00 0 NM_001038.5/ interpretable range CS1>95% SCNN1B 95.00 0 NM_000336.2/ interpretable range CS1>95% SCNN1G 95.00 0 NM_001039.3/ interpretable range CS1>95% SDCCAG8 95.00 0 NM_006642.4/ interpretable range CS1>95% SEC61A1 95.00 0 NM_013336.3/ interpretable range CS1>95% SGPL1 95.00 0 NM_003901.3/ interpretable range CS1>95% SIX1 95.00 0 NM_005982.3/ interpretable range CS1>95% SIX5 95.00 0 NM_175875.4/ interpretable range CS1>95% SLC12A1 95.00 0 NM_000338.2/ interpretable range CS1>95% SLC12A3 95.00 0 NM_000339.2/ interpretable range CS1>95% SLC22A12 95.00 0 NM_144585.3/ interpretable range CS1>95% SLC2A2 95.00 0 NM_000340.1/ interpretable range CS1>95% SLC2A9 95.00 0 NM_020041.2/ interpretable range CS1>95% SLC34A1 95.00 0 NM_003052.4/ interpretable range CS1>95% SLC34A3 95.00 0 NM_080877.2/ interpretable range CS1>95% SLC3A1 95.00 0 NM_000341.3/ interpretable range CS1>95% SLC4A1 95.00 0 NM_000342.3/ interpretable range CS1>95% SLC4A4 95.00 0 NM_003759.3/ interpretable range CS1>95% SLC5A2 95.00 0 NM_003041.3/ interpretable range CS1>95% SLC7A9 95.00 0 NM_014270.4/ interpretable range CS1>95% SMARCAL1 95.00 0 NM_014140.3/ interpretable range CS1>95% TBC1D8B 95.00 0 NM_017752.2/ interpretable range CS1>95% TBX18 95.00 0 NM_001080508.2/ interpretable range CS1>95% THBD 95.00 0 NM_000361.2/ interpretable range CS1>95% TNS2 95.00 0 NM_015319.2/ interpretable range CS1>95% TRAF3IP1 95.00 0 NM_015650.3/ interpretable range CS1>95% TRAP1 95.00 0 NM_016292.2/ interpretable range CS1>95% TRPC6 95.00 0 NM_004621.5/ interpretable range CS1>95% TRPM6 95.00 0 NM_017662.4/ interpretable range CS1>95% TSC1 95.00 0 NM_000368.4/ interpretable range CS1>95% TSC2 95.00 0 NM_000548.4/ interpretable range CS1>95% TTC21B 95.00 0 NM_024753.4/ interpretable range CS1>95% TTR 95.00 0 NM_000371.3/ interpretable range CS1>95% UMOD 95.00 0 NM_003361.3/ interpretable range CS1>95% VHL 95.00 0 NM_000551.3/ interpretable range CS1>95% WDR19 95.00 0 NM_025132.3/ interpretable range CS1>95% WDR72 95.00 0 NM_182758.3/ interpretable range CS1>95% WFS1 95.00 0 NM_006005.3/ interpretable range CS1>95% WNK1 95.00 0 NM_018979.3/ interpretable range CS1>95% WNK4 95.00 0 NM_032387.4/ interpretable range CS1>95% WNT4 95.00 0 NM_030761.4/ interpretable range CS1>95% WT1 95.00 0 NM_024426.5/ interpretable range CS1>95% XDH 95.00 0 NM_000379.3/ interpretable range CS1>95% XPNPEP3 95.00 0 NM_022098.3/ interpretable range CS1>95%