NL
GFI1B - bleeding disorder, platelet-type, 17
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Gray platelet syndrome
This product is also part of the following panels:
- Hemostatic/thrombotic disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
604383
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NBEAL2 - Gray platelet syndrome
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Gray platelet syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Hemostatic/thrombotic disorders panel
- Inherited bone marrow failure and/or predisposition panel to hematological malignancies
- Mendelian inherited disorders panel with genome wide CNV analysis
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
614169
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
