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 (98.2% **)
  • WES inherited bone marrow failure (98.2% **)
  • WES iron disorders (98.2% **)
  • WES Mendelian inherited disorders (98.2% **)

** % 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




€ 352

Gene

CYCS - thrombocytopenia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

CYCS - thrombocytopenia



€ 725

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 (93.1% **)
  • WES Mendelian inherited disorders (93.1% **)
  • WES mitochondrial disorders (93.1% **)

** % 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




€ 725
Gene

GATA1 - thrombocytopenia, X-linked

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 352

GATA1 - thrombocytopenia, X-linked



€ 352