NL
LZTR1 - Schwannomatosis type 2
This test is available for the following conditions:
- Conditions > Oncogenetics > Schwannomatosis
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES heart disorders¹ (100.0% *)
- WES hemostatic/thrombotic disorders (100.0% *)
- WES hereditary cancer (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES neurological pain disorders¹ (100.0% *)
- WES Noonan syndrome / RASopathy (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
600574
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, 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:
- WES hereditary cancer (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES neurological pain disorders¹ (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
- WES skin disorders¹ (100.0% *)
- WES sonic hedgehog medulloblastoma (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
