- Genetic tests
- Renal or urinary tract malformation (CAKUT) (gene panel)
Renal or urinary tract malformation (CAKUT) (gene panel)
Full name: |
Renal or urinary tract malformation (CAKUT) (gene panel)
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Test type: |
Clinical
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Test specialty: |
Molecular Genetics
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Test purpose: |
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis,
Prenatal diagnosis
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Specimen: |
Peripheral (whole) blood on EDTA,
DNA
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
Accreditation (ISO 15189): |
2022-10-07 / 2027-10-06
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Turnaround time (maximum): |
20-60 days
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Document(s): | |
Created: |
06 Aug 2019 - 11:15
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Changed: |
11 Dec 2023 - 11:56
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- BNAR syndrome
- BOR syndrome
- Bilateral multicystic dysplastic kidney
- Branchiootic syndrome
- CHARGE syndrome
- Congenital hydronephrosis
- Familial juvenile hyperuricemic nephropathy type 1
- Familial vesicoureteral reflux
- Familial visceral myopathy
- Fraser syndrome
- HNF1B-related autosomal dominant tubulointerstitial kidney disease
- Hajdu-Cheney syndrome
- Hypoparathyroidism-sensorineural deafness-renal disease syndrome
- Infantile nephronophthisis
- Joubert syndrome with hepatic defect
- Joubert syndrome with renal defect
- Kallmann syndrome
- Late-onset nephronophthisis
- Meckel syndrome
- Müllerian aplasia and hyperandrogenism
- Pallister-Hall syndrome
- Renal agenesis, unilateral
- Renal coloboma syndrome
- Renal tubular dysgenesis of genetic origin
- SERKAL syndrome
- SIX2-related frontonasal dysplasia
- Townes-Brocks syndrome
- UMOD-related autosomal dominant tubulointerstitial kidney disease
- Unilateral multicystic dysplastic kidney
- ACE
- ACTG2
- AGT
- AGTR1
- AGTR2
- AGXT
- ANOS1
- BMP4
- BMP7
- BNC2
- CCNQ
- CDC5L
- CEP55
- CHD1L
- CHD7
- CHRM3
- CHRNA3
- CTU2
- DSTYK
- EYA1
- FGF20
- FOXC1
- FRAS1
- FREM1
- FREM2
- GATA3
- GLI3
- GPC3
- GREB1L
- GRIP1
- HNF1B
- HOXA13
- HPSE2
- ITGA8
- JAG1
- KIF14
- LIFR
- LRIG2
- LRP4
- NADSYN1
- NOTCH2
- NPHP3
- PAX2
- PBX1
- REN
- RET
- ROBO1
- ROBO2
- RPGRIP1L
- SALL1
- SALL4
- SDCCAG8
- SIX1
- SIX2
- SIX5
- SLIT2
- SOX17
- STRA6
- TBC1D1
- TBX18
- TFAP2A
- TMEM260
- TRAP1
- UMOD
- UPK3A
- WFS1
- WNT4
- ZIC3
- ZMYM2
-
Cakut (congenital anomalies of the kidney and urinary tract-1) (69 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACE 100.00 1 NM_000789.4 ACTG2 100.00 1 NM_001615.4 AGT 100.00 1 NM_001384479.1 AGTR1 100.00 1 NM_000685.5 ANOS1 100.00 1 NM_000216.4 BMP4 100.00 1 NM_001202.6 BMP7 100.00 1 NM_001719.3 CDC5L 100.00 1 NM_001253.4 CHD1L 100.00 1 NM_004284.6 CHD7 100.00 1 NM_017780.4 DSTYK 100.00 1 NM_015375.3 EYA1 100.00 1 NM_000503.6 FGF20 100.00 1 NM_019851.3 FRAS1 100.00 1 NM_025074.7 FREM1 100.00 1 NM_001379081.2 FREM2 100.00 1 NM_207361.6 GATA3 100.00 1 NM_001002295.2 GLI3 100.00 1 NM_000168.6 GREB1L 100.00 1 NM_001142966.3 GRIP1 100.00 1 NM_001366722.1 HNF1B 100.00 1 NM_000458.4 ITGA8 100.00 1 NM_003638.3 NOTCH2 99.00 1 NM_024408.4 NPHP3 100.00 1 NM_153240.5 PAX2 100.00 1 NM_000278.5 PBX1 100.00 1 NM_002585.4 REN 100.00 1 NM_000537.4 RET 100.00 1 NM_020975.6 ROBO2 100.00 1 NM_001395656.1 RPGRIP1L 96.00 1 NM_015272.5 SALL1 100.00 1 NM_002968.3 SALL4 100.00 1 NM_020436.5 SIX1 100.00 1 NM_005982.4 SIX2 100.00 1 NM_016932.5 SIX5 100.00 1 NM_175875.5 SOX17 100.00 1 NM_022454.4 TBX18 100.00 1 NM_001080508.3 UMOD 100.00 1 NM_003361.4 UPK3A 100.00 1 NM_006953.4 WNT4 100.00 1 NM_030761.5 AGTR2 100.00 1 NM_000686.5 AGXT 100.00 1 NM_000030.3 BNC2 100.00 1 NM_017637.6 CCNQ 100.00 1 NM_152274.5 CEP55 100.00 1 NM_018131.5 CHRM3 100.00 1 NM_001375978.1 CHRNA3 100.00 1 NM_000743.5 CTU2 100.00 1 NM_001012759.3 FOXC1 100.00 1 NM_001453.3 GPC3 100.00 1 NM_004484.4 HOXA13 100.00 1 NM_000522.5 HPSE2 100.00 1 NM_021828.5 JAG1 100.00 1 NM_000214.3 KIF14 100.00 1 NM_014875.3 LIFR 100.00 1 NM_001127671.2 LRIG2 100.00 1 NM_014813.3 LRP4 100.00 1 NM_002334.4 NADSYN1 100.00 1 NM_018161.5 ROBO1 100.00 1 NM_002941.4 SDCCAG8 100.00 1 NM_006642.5 SLIT2 100.00 1 NM_004787.4 STRA6 100.00 1 NM_022369.4 TBC1D1 100.00 1 NM_001396959.1 TFAP2A 100.00 1 NM_001372066.1 TMEM260 100.00 1 NM_017799.4 TRAP1 100.00 1 NM_016292.3 WFS1 100.00 1 NM_006005.3 ZIC3 100.00 1 NM_003413.4 ZMYM2 100.00 1 NM_197968.4