- Genetic tests
- Ciliopathy (gene panel)
Ciliopathy (gene panel)
Full name: |
Ciliopathy (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): |
2021-09-11 / 2026-09-10
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Turnaround time (maximum): |
6 months
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Document(s): | |
Created: |
29 Jul 2019 - 12:55
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Changed: |
13 Dec 2022 - 09:07
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URL: |
- Achromatopsia
- Acrocallosal syndrome
- Acrofacial dysostosis, Weyers type
- Ataxia-telangiectasia-like disorder
- Autosomal dominant polycystic kidney disease
- Autosomal recessive polycystic kidney disease
- Bardet-Biedl syndrome
- Caroli disease
- Cone rod dystrophy
- Cranioectodermal dysplasia
- Ellis Van Creveld syndrome
- Heart defect-tongue hamartoma-polysyndactyly syndrome
- Hydrolethalus
- Infantile nephronophthisis
- Isolated neonatal sclerosing cholangitis
- Jeune syndrome
- Joubert syndrome
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- Joubert syndrome with hepatic defect
- Joubert syndrome with oculorenal defect
- Joubert syndrome with renal defect
- Juvenile nephronophthisis
- Late-onset nephronophthisis
- Leber congenital amaurosis
- MORM syndrome
- McKusick-Kaufman syndrome
- Meckel syndrome
- Multiple epiphyseal dysplasia, Al-Gazali type
- Non-syndromic male infertility due to sperm motility disorder
- Orofaciodigital syndrome type 1
- Orofaciodigital syndrome type 2
- Orofaciodigital syndrome type 3
- Orofaciodigital syndrome type 6
- Primary ciliary dyskinesia
- Primary ciliary dyskinesia-retinitis pigmentosa syndrome
- Renal-hepatic-pancreatic dysplasia
- Retinitis pigmentosa
- Saldino-Mainzer syndrome
- Senior-Boichis syndrome
- Senior-Loken syndrome
- Short rib-polydactyly syndrome type 5
- Short rib-polydactyly syndrome, Beemer-Langer type
- Short rib-polydactyly syndrome, Majewski type
- Short rib-polydactyly syndrome, Saldino-Noonan type
- Short rib-polydactyly syndrome, Verma-Naumoff type
- X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome
- ACVR2B
- ADAMTS9
- AHI1
- ALMS1
- ANKS6
- ARL13B
- ARL3
- ARL6
- ARMC9
- B9D1
- B9D2
- BBIP1
- BBS1
- BBS10
- BBS12
- BBS2
- BBS4
- BBS5
- BBS7
- BBS9
- C2CD3
- CBY1
- CC2D2A
- CCDC103
- CCDC172
- CCDC28B
- CCDC32
- CCDC39
- CCDC40
- CCDC65
- CCDC96
- CCNO
- CENPF
- CEP104
- CEP120
- CEP164
- CEP290
- CEP295
- CEP41
- CEP55
- CEP83
- CFAP251
- CFAP298
- CFAP300
- CFAP410
- CFAP418
- CFAP44
- CFAP53
- CFAP69
- CFC1
- CILK1
- CPLANE1
- CRB2
- CSPP1
- DCDC2
- DDX59
- DEUP1
- DHCR7
- DLG5
- DNAAF1
- DNAAF11
- DNAAF2
- DNAAF3
- DNAAF4
- DNAAF5
- DNAAF6
- DNAH1
- DNAH11
- DNAH5
- DNAH8
- DNAH9
- DNAI1
- DNAI2
- DNAJB13
- DRC1
- DYNC2H1
- DYNC2I1
- DYNC2I2
- DYNC2LI1
- DYNLT2B
- EVC
- EVC2
- EXOC3L2
- EXOC6B
- EXOC8
- EXTL3
- FAM149B1
- FAM166B
- FOXF1
- FUZ
- GAS2L2
- GAS8
- GLI3
- GLIS2
- HNF1B
- HYDIN
- HYLS1
- IFT122
- IFT140
- IFT172
- IFT27
- IFT43
- IFT52
- IFT74
- IFT80
- IFT81
- INPP5E
- INTS13
- INTU
- INVS
- IQCB1
- IQCE
- KATNIP
- KCTD3
- KIAA0586
- KIAA0753
- KIF14
- KIF3B
- KIF7
- LBR
- LCA5
- LRRC34
- LRRC45
- LRRC56
- LZTFL1
- MAPKBP1
- MCIDAS
- MKKS
- MKS1
- MMP21
- MRE11
- NCAPG2
- NEK1
- NEK9
- NME5
- NME8
- NPHP1
- NPHP3
- NPHP4
- OCRL
- ODAD1
- ODAD2
- ODAD3
- ODAD4
- OFD1
- PDE6D
- PIBF1
- PIK3C2A
- PKD1
- PKD2
- PKHD1
- PMFBP1
- PMM2
- POC1A
- POC1B
- RAB28
- RPGR
- RPGRIP1L
- RSPH1
- RSPH3
- RSPH4A
- RSPH9
- SBDS
- SCLT1
- SCNM1
- SDCCAG8
- SLC30A7
- SPAG1
- STK36
- SUFU
- TBC1D32
- TCTN1
- TCTN2
- TCTN3
- TMEM107
- TMEM138
- TMEM17
- TMEM216
- TMEM218
- TMEM231
- TMEM237
- TMEM260
- TMEM67
- TOGARAM1
- TOPORS
- TRAF3IP1
- TRIM32
- TTC21B
- TTC23
- TTC26
- TTC6
- TTC8
- TUBGCP4
- TULP1
- TULP3
- TXNDC15
- VHL
- VPS13B
- WDPCP
- WDR19
- WDR35
- XPNPEP3
- ZFYVE19
- ZIC3
- ZMYND10
- ZNF423
- ZSWIM6
-
Ciliopathy (120 genes) - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACVR2B 99.99 0 ADAMTS9 99.94 0 AHI1 99.86 0 ALMS1 99.90 0 ANKS6 100.00 0 ARL13B 99.53 0 ARL3 99.98 0 ARL6 99.90 0 ARMC9 99.77 0 B9D1 99.80 0 B9D2 99.88 0 BBIP1 99.99 0 BBS1 100.00 0 BBS10 99.98 0 BBS12 100.00 0 BBS2 99.90 0 BBS4 99.88 0 BBS5 99.00 0 BBS7 99.42 0 BBS9 99.75 0 C2CD3 99.88 0 CBY1 100.00 0 CC2D2A 99.95 0 CCDC103 99.68 0 CCDC172 99.85 0 CCDC28B 99.99 0 CCDC32 99.97 0 CCDC39 99.74 0 CCDC40 100.00 0 CCDC65 99.80 0 CCDC96 100.00 0 CCNO 100.00 0 CENPF 99.97 0 CEP104 99.99 0 CEP120 99.90 0 CEP164 99.99 0 CEP290 98.10 0 CEP295 99.94 0 CEP41 99.99 0 CEP55 99.92 0 CEP83 98.68 0 CFAP251 99.98 0 CFAP298 99.96 0 CFAP300 99.47 0 CFAP410 100.00 0 CFAP418 100.00 0 CFAP44 99.75 0 CFAP53 99.95 0 CFAP69 99.09 0 CFC1 21.93 0 CILK1 99.69 0 CPLANE1 99.81 0 CRB2 99.95 0 CSPP1 98.31 0 DCDC2 99.96 0 DDX59 99.67 0 DEUP1 99.86 0 DHCR7 99.97 0 DLG5 99.91 0 DNAAF1 99.99 0 DNAAF11 99.80 0 DNAAF2 99.91 0 DNAAF3 99.99 0 DNAAF4 99.78 0 DNAAF5 99.99 0 DNAAF6 98.73 0 DNAH1 99.98 0 DNAH11 99.93 0 DNAH5 99.98 0 DNAH8 99.84 0 DNAI1 99.92 0 DNAI2 99.86 0 DNAJB13 99.91 0 DNAH9 99.79 0 DRC1 99.93 0 DYNC2H1 99.66 0 DYNC2I1 99.99 0 DYNC2I2 99.98 0 DYNC2LI1 99.94 0 DYNLT2B 100.00 0 EVC 99.95 0 EVC2 99.97 0 EXOC3L2 99.88 0 EXOC6B 99.41 0 EXOC8 99.99 0 EXTL3 99.99 0 FAM149B1 99.69 0 FAM166B 99.99 0 FOXF1 99.99 0 FUZ 99.99 0 GAS2L2 100.00 0 GAS8 100.00 0 GLI3 100.00 0 GLIS2 100.00 0 HNF1B 100.00 0 HYDIN 81.28 0 HYLS1 100.00 0 IFT122 99.98 0 IFT140 100.00 0 IFT172 99.98 0 IFT27 100.00 0 IFT43 99.97 0 IFT52 99.82 0 IFT74 99.71 0 IFT80 99.69 0 IFT81 94.64 0 INPP5E 99.85 0 INTS13 98.20 0 INTU 99.92 0 INVS 99.94 0 IQCB1 99.72 0 IQCE 99.77 0 KATNIP 99.13 0 KCTD3 99.75 0 KIAA0586 95.75 0 KIAA0753 100.00 0 KIF14 97.80 0 KIF3B 99.99 0 KIF7 100.00 0 LBR 99.66 0 LCA5 99.89 0 LRRC34 99.52 0 LRRC45 99.98 0 LRRC56 99.98 0 LZTFL1 100.00 0 MAPKBP1 99.98 0 MCIDAS 100.00 0 MKKS 100.00 0 MKS1 99.92 0 MMP21 99.99 0 MRE11 99.93 0 NCAPG2 99.97 0 NEK1 99.83 0 NEK9 99.96 0 NME5 99.81 0 NME8 99.83 0 NPHP1 99.05 0 NPHP3 99.89 0 NPHP4 99.98 0 OCRL 99.89 0 ODAD1 96.04 0 ODAD2 98.19 0 ODAD3 99.96 0 ODAD4 99.85 0 OFD1 99.68 0 PDE6D 99.94 0 PIBF1 99.90 0 PIK3C2A 99.92 0 PKD1 99.98 0 PKD2 99.91 0 PKHD1 99.95 0 PMFBP1 99.89 0 PMM2 99.93 0 POC1A 99.98 0 POC1B 100.00 0 RAB28 99.97 0 RPGR 94.45 0 RPGRIP1L 96.35 0 RSPH1 99.87 0 RSPH3 99.94 0 RSPH4A 99.95 0 RSPH9 99.99 0 SBDS 99.93 0 SCLT1 95.17 0 SCNM1 99.47 0 SDCCAG8 100.00 0 SLC30A7 94.71 0 SPAG1 99.78 0 STK36 99.98 0 SUFU 100.00 0 TBC1D32 99.75 0 TCTN1 99.92 0 TCTN2 99.99 0 TCTN3 99.92 0 TMEM107 100.00 0 TMEM138 100.00 0 TMEM17 99.96 0 TMEM216 99.98 0 TMEM218 99.94 0 TMEM231 88.88 0 TMEM237 99.30 0 TMEM260 99.90 0 TMEM67 99.69 0 TOGARAM1 99.93 0 TOPORS 99.99 0 TRAF3IP1 99.96 0 TRIM32 100.00 0 TTC21B 99.50 0 TTC23 99.87 0 TTC26 99.97 0 TTC6 99.77 0 TTC8 99.67 0 TUBGCP4 99.80 0 TULP1 99.99 0 TULP3 99.91 0 TXNDC15 99.78 0 VHL 100.00 0 VPS13B 99.90 0 WDPCP 99.87 0 WDR19 99.80 0 WDR35 99.92 0 XPNPEP3 99.99 0 ZFYVE19 99.99 0 ZIC3 99.90 0 ZMYND10 99.99 0 ZNF423 98.94 0 ZSWIM6 98.94 0