- Genetic tests
- Respiratory disorders (gene panel): non-CF bronchiectasis; pulmonary hypertension; interstitial lung disease
Respiratory disorders (gene panel): non-CF bronchiectasis; pulmonary hypertension; interstitial lung disease
Full name: |
Respiratory disorders (gene panel): non-CF bronchiectasis; pulmonary hypertension; interstitial lung disease
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Description: |
Recent clinical report required! |
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: | |
Turnaround time (maximum): |
6 months
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Document(s): | |
Created: |
15 Nov 2022 - 13:40
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Changed: |
16 Dec 2022 - 13:11
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- ABCA3
- ABCC8
- ACVRL1
- AP3B1
- AQP1
- ARHGEF1
- ASAH1
- ASCL1
- ATP13A3
- ATP6AP1
- BDNF
- BLOC1S3
- BLOC1S6
- BMP10
- BMPR1B
- BMPR2
- CARD11
- CAV1
- CCDC39
- CCDC40
- CD19
- CD81
- CIITA
- CLEC1A
- CLEC7A
- COPA
- CR2
- CSF2RA
- CSF2RB
- CTLA4
- CTNNBL1
- DKC1
- DNAAF1
- DNAAF2
- DNAH11
- DNAH5
- DNAH9
- DNAI1
- DNAI2
- DOCK8
- DTNBP1
- EFEMP2
- EIF2AK4
- ELMOD2
- ELN
- ENG
- ERBIN
- FAM111B
- FARSA
- FARSB
- FBLN5
- FLNA
- FNIP1
- FOXF1
- FOXP3
- GARS1
- GATA2
- GBA1
- GDF2
- HPS1
- HPS3
- HPS4
- HPS5
- HPS6
- IKZF1
- IL6R
- IL6ST
- IRF2BP2
- ITCH
- ITGA3
- KCNA5
- KCNK3
- KDR
- LRBA
- LTBP4
- MARS1
- MOGS
- MS4A1
- MUC5B
- NFKB1
- NFKB2
- NKX2-1
- NME8
- NOD2
- NOTCH3
- NSMCE3
- OAS1
- PARN
- PGM3
- PIK3CD
- PIK3CG
- PIK3R1
- POU2AF1
- PTEN
- RAC2
- RFX5
- RFXANK
- RFXAP
- RGPD4
- RSPH4A
- RSPH9
- RTEL1
- SCNN1A
- SCNN1B
- SCNN1G
- SEC61A1
- SERPINA1
- SFTPA1
- SFTPA2
- SFTPB
- SFTPC
- SFTPD
- SH3KBP1
- SLC34A2
- SLC7A7
- SMAD4
- SMAD9
- SMPD1
- SOX17
- SPINK5
- STAT3
- STAT5B
- STING1
- TBX4
- TERC
- TERT
- TGFBR1
- TGFBR2
- TINF2
- TNFRSF13B
- TNFRSF13C
- TNFSF12
- TNFSF13
- TRNT1
- TSC1
- TSC2
- ZNF341
-
Respiratory Disorders panel (137 genes) - Ugent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCA3 99.96 1 ABCC8 99.98 1 ACVRL1 99.88 1 AP3B1 99.89 1 AQP1 99.99 1 ARHGEF1 99.97 1 ASAH1 99.90 1 ASCL1 99.82 1 ATP13A3 99.84 1 ATP6AP1 100.00 1 BDNF 100.00 1 BLOC1S3 100.00 1 BLOC1S6 99.98 1 BMP10 99.96 1 BMPR1B 99.61 1 BMPR2 99.95 1 CARD11 99.97 1 CAV1 99.97 1 CCDC39 99.74 1 CCDC40 100.00 1 CD19 99.98 1 CD81 99.97 1 CIITA 99.99 1 CLEC1A 99.97 1 CLEC7A 99.98 1 COPA 99.61 1 CR2 99.97 1 CSF2RA 93.86 1 CSF2RB 100.00 1 CTLA4 99.99 1 CTNNBL1 100.00 1 DKC1 99.59 1 DNAAF1 99.99 1 DNAAF2 99.91 1 DNAH11 99.93 1 DNAH5 99.98 1 DNAI1 99.92 1 DNAI2 99.86 1 DNAH9 99.79 1 DOCK8 99.86 1 DTNBP1 99.89 1 EFEMP2 99.94 1 EIF2AK4 99.97 1 ELMOD2 99.80 1 ELN 99.86 1 ENG 100.00 1 ERBIN 99.69 1 FAM111B 99.98 1 FARSA 100.00 1 FARSB 99.64 1 FBLN5 100.00 1 FLNA 99.99 1 FNIP1 99.87 1 FOXF1 99.99 1 FOXP3 99.93 1 GARS1 99.93 1 GATA2 99.99 1 GBA1 96.92 1 GDF2 100.00 1 HPS1 100.00 1 HPS3 99.91 1 HPS4 99.98 1 HPS5 99.91 1 HPS6 100.00 1 IKZF1 99.92 1 IL6R 92.46 1 IL6ST 99.88 1 IRF2BP2 100.00 1 ITCH 95.57 1 ITGA3 99.86 1 KCNA5 100.00 1 KCNK3 100.00 1 KDR 99.86 1 LRBA 99.76 1 LTBP4 99.99 1 MARS1 99.97 1 MOGS 100.00 1 MS4A1 99.60 1 MUC5B 99.94 1 NFKB1 99.80 1 NFKB2 99.98 1 NKX2-1 100.00 1 NME8 99.83 1 NOD2 99.98 1 NOTCH3 99.99 1 NSMCE3 100.00 1 OAS1 99.96 1 PARN 99.75 1 PGM3 99.94 1 PIK3CD 99.99 1 PIK3CG 99.72 1 PIK3R1 99.86 1 POU2AF1 99.43 1 PTEN 99.89 1 RAC2 99.99 1 RFX5 99.88 1 RFXANK 100.00 1 RFXAP 99.98 1 RGPD4 71.96 1 RSPH4A 99.95 1 RSPH9 99.99 1 RTEL1 100.00 1 SCNN1A 100.00 1 SCNN1B 99.38 1 SCNN1G 99.94 1 SEC61A1 99.99 1 SERPINA1 100.00 1 SFTPA1 99.99 1 SFTPA2 99.81 1 SFTPB 99.99 1 SFTPC 99.99 1 SFTPD 99.62 1 SH3KBP1 99.95 1 SLC34A2 99.99 1 SLC7A7 99.99 1 SMAD4 99.97 1 SMAD9 99.99 1 SMPD1 100.00 1 SOX17 100.00 1 SPINK5 99.91 1 STAT3 99.97 1 STAT5B 99.50 1 STING1 99.87 1 TBX4 99.96 1 TERC 98.59 1 TERT 100.00 1 TGFBR1 99.94 1 TGFBR2 99.98 1 TINF2 100.00 1 TNFRSF13B 99.43 1 TNFRSF13C 99.99 1 TNFSF12 100.00 1 TNFSF13 100.00 1 TRNT1 99.97 1 TSC1 99.99 1 TSC2 99.98 1 ZNF341 100.00 1