NL
GP1BA - platelet-type Von Willebrand disease
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Von Willebrand disease
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES hemostatic/thrombotic disorders (100.0% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
- WES Mendelian inherited disorders (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:
606672
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
VWF - Von Willebrand disease
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Von Willebrand disease
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES hemostatic/thrombotic disorders (100.0% *)
- WES Mendelian inherited disorders (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
- Deletion/duplication analysis (MLPA)
OMIM:
613160
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
VWF - Von Willebrand disease (MLPA)
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Von Willebrand disease
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES hemostatic/thrombotic disorders (100.0% *)
- WES Mendelian inherited disorders (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
- Deletion/duplication analysis (MLPA)
Sequencing is not included in this test. Can be ordered seperately.
OMIM:
613160
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
