NL
AIRE - familial candidiasis type chronic mucocutane
This test is available for the following conditions:
- Conditions > Immunological, hereditary > Candidiasis, familial
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES primary immunodeficiencies (100.0% *)
- WES skin disorders¹ (100.0% *)
* % 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:
607358
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
STAT1 - familial candidiasis type 7, autosomal dominant
This test is available for the following conditions:
- Conditions > Immunological, hereditary > Candidiasis, familial
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (95.9% *)
- WES primary immunodeficiencies (95.9% *)
* % 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:
600555
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
