Transient abnormal myelopoiesis associated with Down Syndrome, somatic

GATA1 - Transient abnormal myelopoiesis associated with Down Syndrome, somatic

This test is available for the following conditions:

• Conditions > Hematological, somatic > Transient abnormal myelopoiesis associated with Down Syndrome, somatic

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

Remarks
Disclaimer: Low percentage mosaic/somatic variants in low infiltrated samples cannot be excluded, since Sanger sequencing is not sensitive enough for that purpose.
 

OMIM: 305371
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Bone marrow

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