- Genetic tests
- Primary ciliary dyskinesia (PCD) Heterotaxyies (gene panel)
Primary ciliary dyskinesia (PCD) Heterotaxyies (gene panel)
Full name: |
Primary ciliary dyskinesia (PCD) Heterotaxyies (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,
DNA
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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: |
15 Dec 2020 - 16:20
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Changed: |
08 Jul 2022 - 10:27
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URL: |
- ACTC1
- ACVR2B
- AK7
- ALMS1
- ANKS6
- BBS1
- BBS10
- BBS2
- BCL9L
- BCOR
- BRAF
- C1orf127
- CBL
- CCDC103
- CCDC39
- CCDC40
- CCDC65
- CCNO
- CENPF
- CEP164
- CEP290
- CFAP298
- CFAP300
- CFAP45
- CFAP52
- CFAP53
- CFAP58
- CFC1
- CFTR
- CHD7
- CIROP
- CITED2
- CRELD1
- DAW1
- DGAT2L6
- DNAAF1
- DNAAF11
- DNAAF2
- DNAAF3
- DNAAF4
- DNAAF5
- DNAAF6
- DNAH1
- DNAH11
- DNAH12
- DNAH14
- DNAH17
- DNAH5
- DNAH8
- DNAH9
- DNAI1
- DNAI2
- DNAJB13
- DRC1
- DYNC1H1
- DYNLT2
- ELN
- EVC
- EVC2
- FOXF1
- FOXH1
- FOXJ1
- GAS2L2
- GAS8
- GATA4
- GATA6
- GDF1
- GJA1
- GPC3
- HAND1
- HES7
- HYDIN
- IFT46
- INVS
- JAG1
- KIF7
- LEFTY1
- LEFTY2
- LMBRD1
- LMNA
- LRRC56
- LZTFL1
- MAP2K1
- MAP2K2
- MCIDAS
- MED13L
- MEGF8
- MEIS2
- MKS1
- MMP21
- MNS1
- MRE11
- MYH6
- NAT10
- NEK10
- NEK9
- NKX2-5
- NKX2-6
- NME5
- NME8
- NODAL
- NOTCH1
- NOTCH2
- NPHP3
- NR2F2
- NSD1
- ODAD1
- ODAD2
- ODAD3
- ODAD4
- OFD1
- PITRM1
- PKD1L1
- PKD2
- PQBP1
- PRRX1
- PTPN11
- RAF1
- RIT1
- RPGR
- RSPH1
- RSPH3
- RSPH4A
- RSPH9
- SERPINE2
- SHOC2
- SHROOM3
- SMAD2
- SMAD6
- SOS1
- SPAG1
- SPEF2
- STK36
- TBX1
- TBX5
- TCTN2
- TP73
- TTC12
- TTC8
- UBR1
- WDR35
- WDR47
- ZFPM2
- ZIC3
- ZMPSTE24
- ZMYND10
- ZNF423
-
Heterotaxie PCD - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACTC1 98.57 0 ACVR2B 99.99 0 AK7 99.93 0 ALMS1 99.90 0 ANKS6 100.00 0 BBS1 100.00 0 BBS10 99.98 0 BBS2 99.90 0 BCL9L 99.99 0 BCOR 99.97 0 BRAF 99.78 0 C1orf127 99.98 0 CBL 99.95 0 CCDC103 99.68 0 CCDC39 99.74 0 CCDC40 100.00 0 CCDC65 99.80 0 CCNO 100.00 0 CENPF 99.97 0 CEP164 99.99 0 CEP290 98.10 0 CFAP298 99.96 0 CFAP300 99.47 0 CFAP45 99.97 0 CFAP52 99.92 0 CFAP53 99.95 0 CFAP58 99.96 0 CFC1 21.93 0 CFTR 99.45 0 CHD7 99.99 0 CITED2 100.00 0 CRELD1 99.99 0 DAW1 99.90 0 DGAT2L6 99.97 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 DNAH12 99.36 0 DNAH14 99.64 0 DNAH17 99.98 0 DNAH5 99.98 0 DNAH8 99.84 0 DNAH9 99.79 0 DNAI1 99.92 0 DNAI2 99.86 0 DNAJB13 99.91 0 DRC1 99.93 0 DYNC1H1 99.99 0 DYNLT2 99.95 0 ELN 99.86 0 EVC 99.95 0 EVC2 99.97 0 FOXF1 99.99 0 FOXH1 100.00 0 FOXJ1 100.00 0 GAS2L2 100.00 0 GAS8 100.00 0 GATA4 99.99 0 GATA6 99.90 0 GDF1 100.00 0 GJA1 100.00 0 GPC3 99.60 0 HAND1 99.99 0 HES7 100.00 0 HYDIN 81.28 0 IFT46 99.58 0 INVS 99.94 0 JAG1 100.00 0 KIF7 100.00 0 LEFTY1 99.98 0 LEFTY2 100.00 0 LMBRD1 99.67 0 CIROP 91.91 0 LMNA 99.96 0 LRRC56 99.98 0 LZTFL1 100.00 0 MAP2K1 99.98 0 MAP2K2 99.99 0 MCIDAS 100.00 0 MED13L 99.99 0 MEGF8 99.90 0 MEIS2 99.97 0 MKS1 99.92 0 MMP21 99.99 0 MNS1 99.86 0 MRE11 99.93 0 MYH6 100.00 0 NAT10 99.97 0 NEK10 96.92 0 NEK9 99.99 0 NKX2-5 99.75 0 NKX2-6 100.00 0 NME5 99.81 0 NME8 99.83 0 NODAL 99.98 0 NOTCH1 99.98 0 NOTCH2 99.03 0 NPHP3 99.89 0 NR2F2 100.00 0 NSD1 99.98 0 ODAD1 96.04 0 ODAD2 98.19 0 ODAD3 99.96 0 ODAD4 99.85 0 OFD1 99.68 0 PITRM1 99.89 0 PKD1L1 99.84 0 PKD2 99.91 0 PQBP1 99.99 0 PRRX1 99.56 0 PTPN11 99.98 0 RAF1 99.97 0 RIT1 99.78 0 RPGR 94.45 0 RSPH1 99.87 0 RSPH3 99.94 0 RSPH4A 99.95 0 RSPH9 99.99 0 SERPINE2 99.97 0 SHOC2 99.96 0 SHROOM3 99.99 0 SMAD2 99.92 0 SMAD6 100.00 0 SOS1 99.68 0 SPAG1 99.78 0 SPEF2 99.93 0 STK36 99.98 0 TBX1 99.95 0 TBX5 99.98 0 TCTN2 99.99 0 TP73 100.00 0 TTC12 99.97 0 TTC8 99.67 0 UBR1 99.93 0 WDR35 99.92 0 WDR47 95.08 0 ZFPM2 100.00 0 ZIC3 99.90 0 ZMPSTE24 98.70 0 ZMYND10 99.99 0 ZNF423 98.94 0