NL
STAT1 - recurrent mycobacterial and viral infections
This test is available for the following conditions:
- Conditions > Immunological, hereditary > Infections, recurrent
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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:
600555
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
STAT3 - hyper-IgE recurrent infection syndrome
This test is available for the following conditions:
- Conditions > Immunological, hereditary > Infections, recurrent
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
- Primary immunodeficiencies panel
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- 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:
102582
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
