Thrombocytopenia, X-linked

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

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