- Genetic tests
- Ciliopathy / polycystic kidney and liver diseases / ADTKD/ nephronophtisis / Bardet-Biedl syndromes and kidney cancers (gene panel)
Ciliopathy / polycystic kidney and liver diseases / ADTKD/ nephronophtisis / Bardet-Biedl syndromes and kidney cancers (gene panel)
Full name: |
Ciliopathy / polycystic kidney and liver diseases / ADTKD/ nephronophtisis / Bardet-Biedl syndromes and kidney cancers (gene panel)
|
Test type: |
Clinical
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Test specialty: |
Molecular Genetics
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Test purpose: |
Carrier diagnosis,
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
|
Turnaround time (maximum): |
20 to 60 days
|
Document(s): | |
Created: |
06 Aug 2019 - 11:46
|
Changed: |
11 Dec 2023 - 13:00
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- ALG8-CDG
- Alagille syndrome due to a NOTCH2 point mutation
- Autosomal dominant polycystic kidney disease
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
- Autosomal recessive polycystic kidney disease
- BOR syndrome
- Bardet-Biedl syndrome
- Birt-Hogg-Dubé syndrome
- Branchiootic syndrome
- COL4A1-related familial vascular leukoencephalopathy
- Caroli disease
- Cowden syndrome
- Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
- Familial juvenile hyperuricemic nephropathy type 1
- Genetic steroid-resistant nephrotic syndrome
- HANAC syndrome
- HNF1B-related autosomal dominant tubulointerstitial kidney disease
- Hereditary clear cell renal cell carcinoma
- Hereditary leiomyomatosis and renal cell cancer
- Hereditary papillary renal cell carcinoma
- Infantile nephronophthisis
- Isolated neonatal sclerosing cholangitis
- Isolated polycystic liver disease
- Isolated succinate-CoQ reductase deficiency
- Joubert syndrome
- Joubert syndrome with hepatic defect
- Joubert syndrome with ocular defect
- Joubert syndrome with oculorenal defect
- Joubert syndrome with renal defect
- Juvenile nephronophthisis
- Karyomegalic interstitial nephritis
- Late-onset nephronophthisis
- Meckel syndrome
- NPHP3-related Meckel-like syndrome
- Orofaciodigital syndrome type 1
- Orofaciodigital syndrome type 6
- PMM2-CDG
- Papillary renal cell carcinoma
- Renal coloboma syndrome
- Renal-hepatic-pancreatic dysplasia
- Saldino-Mainzer syndrome
- Senior-Boichis syndrome
- Senior-Loken syndrome
- UMOD-related autosomal dominant tubulointerstitial kidney disease
- Von Hippel-Lindau disease
- ADAMTS9
- AHI1
- ALG5
- ALG8
- ALG9
- ANKS6
- ARL13B
- ARL3
- ARL6
- ARMC9
- ATXN10
- B9D1
- B9D2
- BAP1
- BBIP1
- BBS1
- BBS10
- BBS12
- BBS2
- BBS4
- BBS5
- BBS7
- BBS9
- C2CD3
- CC2D2A
- CCDC28B
- CDC73
- CEP104
- CEP120
- CEP164
- CEP290
- CEP41
- CEP83
- CFAP418
- COL4A1
- COL4A3
- COL4A4
- COL4A5
- CPLANE1
- CSPP1
- CYP24A1
- DCDC2
- DLG5
- DNAJB11
- DYNC2H1
- DYNC2I1
- DYNC2I2
- DYNC2LI1
- DYNLT2B
- DZIP1L
- EVC
- EVC2
- EYA1
- FAM149B1
- FAN1
- FH
- FLCN
- GANAB
- GATA3
- GATM
- GLIS2
- HNF1A
- HNF1B
- HYLS1
- IFT122
- IFT140
- IFT172
- IFT27
- IFT43
- IFT52
- IFT74
- IFT80
- IFT81
- INPP5E
- INTU
- INVS
- IQCB1
- JAG1
- KATNIP
- KIAA0586
- KIAA0753
- KIF14
- KIF7
- LRP5
- LRP6
- LZTFL1
- MAPKBP1
- MET
- MKKS
- MKS1
- NEK1
- NEK8
- NOTCH2
- NPHP1
- NPHP3
- NPHP4
- OFD1
- PARN
- PAX2
- PDE6D
- PIBF1
- PKD1
- PKD2
- PKHD1
- PMM2
- POC1B
- PRKCSH
- PTEN
- REN
- RNF139
- RPGRIP1L
- SDCCAG8
- SDHA
- SDHB
- SDHC
- SDHD
- SEC61A1
- SEC61B
- SEC63
- SLC41A1
- SREBF1
- SUFU
- TCTN1
- TCTN2
- TCTN3
- TFAP2A
- TMEM107
- TMEM138
- TMEM216
- TMEM218
- TMEM231
- TMEM237
- TMEM67
- TOGARAM1
- TRAF3IP1
- TRIM32
- TSC1
- TSC2
- TTC21B
- TTC8
- TXNDC15
- UMOD
- VHL
- WDPCP
- WDR19
- WDR35
- XPNPEP3
- ZNF423
-
Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADAMTS9 100.00 1 NM_182920.2 ALG8 100.00 1 NM_024079.5 ANKS6 100.00 1 NM_173551.5 ARL6 100.00 1 NM_001278293.3 BBIP1 100.00 1 NM_001195305.3 BBS1 100.00 1 NM_024649.5 BBS10 100.00 1 NM_024685.4 BBS12 100.00 1 NM_152618.3 BBS2 100.00 1 NM_031885.5 BBS4 100.00 1 NM_033028.5 BBS5 100.00 1 NM_152384.3 BBS7 100.00 1 NM_176824.3 BBS9 100.00 1 NM_198428.3 CDC73 100.00 1 NM_024529.5 CEP164 100.00 1 NM_014956.5 CEP290 100.00 1 NM_025114.4 CEP83 100.00 1 NM_016122.3 COL4A1 100.00 1 NM_001845.6 COL4A3 100.00 1 NM_000091.5 COL4A4 100.00 1 NM_000092.5 COL4A5 100.00 1 NM_033380.3 DCDC2 100.00 1 NM_016356.5 DNAJB11 100.00 1 NM_016306.6 DZIP1L 100.00 1 NM_173543.3 EYA1 100.00 1 NM_000503.6 FAN1 100.00 1 NM_014967.5 FH 100.00 1 NM_000143.4 FLCN 100.00 1 NM_144997.7 GANAB 100.00 1 NM_198334.3 GATA3 100.00 1 NM_001002295.2 GATM 100.00 1 NM_001482.3 GLIS2 100.00 1 NM_032575.3 HNF1B 100.00 1 NM_000458.4 IFT172 100.00 1 NM_015662.3 IFT27 100.00 1 NM_001177701.3 INVS 100.00 1 NM_014425.5 IQCB1 100.00 1 NM_001023570.4 LRP5 100.00 1 NM_002335.4 LRP6 100.00 1 NM_002336.3 LZTFL1 100.00 1 NM_020347.4 MAPKBP1 100.00 1 NM_014994.3 MET 100.00 1 NM_000245.4 MKKS 100.00 1 NM_170784.3 MKS1 100.00 1 NM_017777.4 NEK8 100.00 1 NM_178170.3 NOTCH2 99.00 1 NM_024408.4 NPHP1 100.00 1 NM_001128178.3 NPHP3 100.00 1 NM_153240.5 NPHP4 100.00 1 NM_015102.5 OFD1 100.00 1 NM_003611.3 PAX2 100.00 1 NM_000278.5 PKD1 100.00 1 NM_001009944.3 PKD2 100.00 1 NM_000297.4 PKHD1 100.00 1 NM_138694.4 PMM2 0.00 1 NM_000303.2 une seule position PRKCSH 100.00 1 NM_001289104.2 PTEN 100.00 1 NM_000314.8 REN 100.00 1 NM_000537.4 RPGRIP1L 96.00 1 NM_015272.5 SDCCAG8 100.00 1 NM_006642.5 SDHB 100.00 1 NM_003000.3 SDHD 100.00 1 NM_003002.4 SEC61A1 100.00 1 NM_013336.4 SEC63 100.00 1 NM_007214.5 TMEM67 100.00 1 NM_153704.6 TRIM32 100.00 1 NM_012210.4 TSC1 100.00 1 NM_000368.5 TSC2 100.00 1 NM_000548.5 TTC21B 100.00 1 NM_024753.5 TTC8 100.00 1 NM_144596.4 UMOD 100.00 1 NM_003361.4 VHL 100.00 1 NM_000551.4 WDPCP 100.00 1 NM_015910.7 WDR19 100.00 1 NM_025132.4 XPNPEP3 100.00 1 NM_022098.4 ZNF423 100.00 1 NM_001379286.1 AHI1 100.00 1 NM_001134831.2 ALG5 100.00 1 NM_013338.5 ALG9 100.00 1 NM_024740.2 ARL13B 100.00 1 NM_001174150.2 ARL3 100.00 1 NM_004311.4 ARMC9 100.00 1 NM_001352754.2 ATXN10 100.00 1 NM_013236.4 B9D1 100.00 1 NM_015681.6 B9D2 100.00 1 NM_030578.4 BAP1 100.00 1 NM_004656.4 C2CD3 100.00 1 NM_001286577.2 CC2D2A 100.00 1 NM_001378615.1 CCDC28B 100.00 1 NM_024296.5 CEP104 100.00 1 NM_014704.4 CEP120 100.00 1 NM_001375405.1 CEP41 100.00 1 NM_018718.3 CFAP418 100.00 1 NM_177965.4 CPLANE1 100.00 1 NM_001384732.1 CSPP1 100.00 1 NM_001382391.1 CYP24A1 100.00 1 NM_000782.5 DLG5 100.00 1 NM_004747.4 DYNC2H1 100.00 1 NM_001377.3 DYNC2I1 100.00 1 NM_018051.5 DYNC2I2 100.00 1 NM_052844.4 DYNC2LI1 100.00 1 NM_016008.4 DYNLT2B 100.00 1 NM_152773.5 EVC 100.00 1 NM_153717.3 EVC2 100.00 1 NM_147127.5 FAM149B1 100.00 1 NM_173348.2 HNF1A 100.00 1 NM_000545.8 HYLS1 100.00 1 NM_001134793.2 IFT122 100.00 1 NM_052989.3 IFT140 100.00 1 NM_014714.4 IFT43 100.00 1 NM_001102564.3 IFT52 100.00 1 NM_016004.5 IFT74 100.00 1 NM_025103.4 IFT80 100.00 1 NM_020800.3 IFT81 100.00 1 NM_014055.4 INPP5E 100.00 1 NM_019892.6 INTU 100.00 1 NM_015693.4 JAG1 100.00 1 NM_000214.3 KATNIP 100.00 1 NM_015202.5 KIAA0586 100.00 1 NM_001329943.3 KIAA0753 100.00 1 NM_014804.3 KIF14 100.00 1 NM_014875.3 KIF7 100.00 1 NM_198525.3 NEK1 100.00 1 NM_001199397.3 PARN 100.00 1 NM_002582.4 PDE6D 100.00 1 NM_002601.4 PIBF1 100.00 1 NM_006346.4 POC1B 100.00 1 NM_172240.3 RNF139 100.00 1 NM_007218.4 SDHA 100.00 1 NM_004168.4 SDHC 100.00 1 NM_003001.5 SEC61B 100.00 1 NM_006808.3 SLC41A1 100.00 1 NM_173854.6 SREBF1 100.00 1 NM_004176.5 SUFU 100.00 1 NM_016169.4 TCTN1 100.00 1 NM_001082538.3 TCTN2 100.00 1 NM_024809.5 TCTN3 100.00 1 NM_015631.6 TFAP2A 100.00 1 NM_001372066.1 TMEM107 100.00 1 NM_183065.4 TMEM138 100.00 1 NM_016464.5 TMEM216 100.00 1 NM_001173990.3 TMEM218 100.00 1 NM_001258244.2 TMEM231 100.00 1 NM_001077418.3 TMEM237 100.00 1 NM_001044385.3 TOGARAM1 100.00 1 NM_001308120.2 TRAF3IP1 100.00 1 NM_015650.4 TXNDC15 100.00 1 NM_024715.4 WDR35 100.00 1 NM_020779.4