Belgian Genetic Tests database- Genetic tests
- Sturge-Weber syndrome (gene panel)
Sturge-Weber syndrome (gene panel)
| Full name: |
Sturge-Weber syndrome (gene panel)
|
| Test type: |
Clinical
|
| Test specialty: |
Molecular Genetics
|
| Test purpose: |
Post-natal Diagnosis
|
| Specimen: |
Fresh tissue,
Frozen tissue,
Peripheral (whole) blood on EDTA,
Paraffin block
|
| Method category: | |
| Method technique: | |
| Laboratory: | |
| RIZIV code: | |
| Turnaround time (maximum): |
6 months
|
| Document(s): | |
| Created: |
12 Dec 2023 - 10:15
|
| Changed: |
14 Dec 2023 - 15:15
|
| URL: |
- ABL1
- AKT1
- ALK
- APC
- ATM
- BRAF
- BRCA1
- BRCA2
- CDH1
- CDKN2A
- CSF1R
- CTNNB1
- DDR2
- DNMT3A
- EGFR
- ERBB2
- ERBB3
- ERBB4
- EZH2
- FBXW7
- FGFR1
- FGFR2
- FGFR3
- FLT3
- FOXL2
- GNA11
- GNAQ
- GNAS
- HNF1A
- HRAS
- IDH1
- IDH2
- JAK2
- JAK3
- KDR
- KIT
- KRAS
- MAP2K1
- MET
- MLH1
- MPL
- MSH6
- MTOR
- NF1
- NF2
- NOTCH1
- NPM1
- NRAS
- PDGFRA
- PIK3CA
- PIK3R1
- PTCH1
- PTEN
- PTPN11
- RB1
- RET
- SMAD4
- SMARCB1
- SMO
- SRC
- STK11
- TERT
- TP53
- TSC1
- VHL
-
Sturge-Weber syndrome (65 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABL1 0.00 0 Only hotspots in the gene AKT1 0.00 0 Only hotspots in the gene ALK 0.00 0 Only hotspots in the gene APC 0.00 0 Only hotspots in the gene ATM 0.00 0 Only hotspots in the gene BRAF 0.00 0 Only hotspots in the gene BRCA1 0.00 0 Only hotspots in the gene BRCA2 0.00 0 Only hotspots in the gene CDH1 0.00 0 Only hotspots in the gene CDKN2A 0.00 0 Only hotspots in the gene CSF1R 0.00 0 Only hotspots in the gene CTNNB1 0.00 0 Only hotspots in the gene DDR2 0.00 0 Only hotspots in the gene DNMT3A 0.00 0 Only hotspots in the gene EGFR 0.00 0 Only hotspots in the gene ERBB2 0.00 0 Only hotspots in the gene ERBB3 0.00 0 Only hotspots in the gene ERBB4 0.00 0 Only hotspots in the gene EZH2 0.00 0 Only hotspots in the gene FBXW7 0.00 0 Only hotspots in the gene FGFR1 0.00 0 Only hotspots in the gene FGFR2 0.00 0 Only hotspots in the gene FGFR3 0.00 0 Only hotspots in the gene FLT3 0.00 0 Only hotspots in the gene FOXL2 0.00 0 Only hotspots in the gene GNA11 0.00 0 Only hotspots in the gene GNAQ 0.00 0 Only hotspots in the gene GNAS 0.00 0 Only hotspots in the gene HNF1A 0.00 0 Only hotspots in the gene HRAS 0.00 0 Only hotspots in the gene IDH1 0.00 0 Only hotspots in the gene IDH2 0.00 0 Only hotspots in the gene JAK2 0.00 0 Only hotspots in the gene JAK3 0.00 0 Only hotspots in the gene KDR 0.00 0 Only hotspots in the gene KIT 0.00 0 Only hotspots in the gene KRAS 0.00 0 Only hotspots in the gene MAP2K1 0.00 0 Only hotspots in the gene MET 0.00 0 Only hotspots in the gene MLH1 0.00 0 Only hotspots in the gene MPL 0.00 0 Only hotspots in the gene MSH6 0.00 0 Only hotspots in the gene MTOR 0.00 0 Only hotspots in the gene NF1 0.00 0 Only hotspots in the gene NF2 0.00 0 Only hotspots in the gene NOTCH1 0.00 0 Only hotspots in the gene NPM1 0.00 0 Only hotspots in the gene NRAS 0.00 0 Only hotspots in the gene PDGFRA 0.00 0 Only hotspots in the gene PIK3CA 0.00 0 Only hotspots in the gene PIK3R1 0.00 0 Only hotspots in the gene PTCH1 0.00 0 Only hotspots in the gene PTEN 0.00 0 Only hotspots in the gene PTPN11 0.00 0 Only hotspots in the gene RB1 0.00 0 Only hotspots in the gene RET 0.00 0 Only hotspots in the gene SMAD4 0.00 0 Only hotspots in the gene SMARCB1 0.00 0 Only hotspots in the gene SMO 0.00 0 Only hotspots in the gene SRC 0.00 0 Only hotspots in the gene STK11 0.00 0 Only hotspots in the gene TERT 0.00 0 Only hotspots in the gene TP53 0.00 0 Only hotspots in the gene TSC1 0.00 0 Only hotspots in the gene VHL 0.00 0 Only hotspots in the gene