Hereditary rhabdoid and nerve system tumors panel
This test is available for the following conditions:
- Conditions > Oncogenetics > Rhabdoid tumor predisposition syndrome
- Conditions > Oncogenetics > Schwannomatosis
Turnaround time
3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Exome analysis (WES or WGS data)
- CNV analysis of all genes based on NGS
Panel version:
DG-5.1.0
Performing laboratory: Radboudumc
Authorized material(s): FFPE, EDTA blood, isolated DNA (only when EDTA blood is not an option)
NF2 - NF2-related schwannomatosis
This test is available for the following conditions:
- Conditions > Oncogenetics > Schwannomatosis
This product is also part of the following panels:
- Hereditary cancer panel
- Hereditary rhabdoid and nerve system tumors panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
Turnaround time
3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
607379
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA, Buccal mucous membrane
SMARCB1 - Schwannomatosis type 1
This test is available for the following conditions:
- Conditions > Oncogenetics > Schwannomatosis
This product is also part of the following panels:
- Hereditary cancer panel
- Hereditary rhabdoid and nerve system tumors panel
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Neurological pain disorders panel¹
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- Skin disorders panel¹
- Sonic hedgehog medulloblastoma panel
Turnaround time
3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
601607
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA, Buccal mucous membrane