NL
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:
- WES hemostatic/thrombotic disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES mitochondrial 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:
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:
- panel congenital dyserythropoietic anemia (CDAN1, C15orf41, GATA1, SEC23B, KIF23, KLF1, LPIN2)
- WES hemostatic/thrombotic disorders (100.0% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
- WES iron 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
OMIM:
305371
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
