CXCR4 - WHIM syndrome (immunedeficiency)
This test is available for the following conditions:
- Conditions > Immunological, hereditary > WHIM syndrome
This product is also part of the following panels:
- Inherited bone marrow failure and/or predisposition panel to hematological malignancies
- Mendelian inherited disorders panel with genome wide CNV analysis
- Primary immunodeficiencies panel
- Skin disorders panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
120140
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane