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CYCS - thrombocytopenia
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Thrombocytopenia, X-linked
- Conditions > Hematological, hereditary > Thrombocytopenia, X-linked
This product is also part of the following panels:
- Hemostatic/thrombotic disorders panel
- Inherited bone marrow failure and/or predisposition panel to hematological malignancies
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
123970
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
GATA1 - thrombocytopenia, X-linked
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Thrombocytopenia, X-linked
- Conditions > Hematological, hereditary > Thrombocytopenia, X-linked
This product is also part of the following panels:
- Hemostatic/thrombotic disorders panel
- Inherited bone marrow failure and/or predisposition panel to hematological malignancies
- Iron disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- panel congenital dyserythropoietic anemia (CDAN1, C15orf41, GATA1, SEC23B, KIF23, KLF1, LPIN2)
- Primary immunodeficiencies panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
305371
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
