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Categorical order

Immune system disorders
Disease Gene OMIM TAT in weeks
CD4 lymphocytopenia1,3      
idiopathic UNC119 604011 2-4
Chronic mucocutaneous candidiasis (NGS)      
NGS AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2 4-6
Gricelli syndrome1 verschiedene Gene für GS 6-10
IPEX syndrome FOXP3 300292 2-4
Leukcocyte Adhesion Defect1      
Type 2 SLC35C1 605881 2-4
agammaglobulinemia1      
X-linked 1 BTK 300300 2-4
agammaglobulinemia IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1 4-6
ataxia teleangiectasia      
- ATM 607585 4-5
hyper-IgE syndrome      
NGS DOCK8, STAT3, TYK2 4-8
lymphohistiocytosis, hemophagocytic      
NGS PRF1, UNC13D, STX11, STXBP2 4-8
multiple intestinal atresia* TTC7A 609332 4-5
neutropenia      
NGS ELANE, G6PC3, HAX1, JAGN1, WAS 202700, 612541, 610738, 616022, 300299 4-8
X-linked WAS 300392 4-8
severe congenital 1 ELANE/ELA2 130130 2-4
severe congenital 3 HAX1 605998 4-6
severe congenital 4 G6PC3 611045 4-8
severe congenital 6 JAGN1 616012 4-8
polyendocrine1      
autoimmune, type 1 AIRE 607358 2 - 4
syndrome, autoimmune lymphoproliferative AIRE, CASP10, CASP8, FADD, FAS, FASLG, FOXP3, IL2RA, ITCH, PRKCD, STAT3, TNS3 4-6

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¹ We offer molecular testing for all genes known for this disease. In some cases, specific genotype - phenotype correlations exist that allow for targeted testing. Please contact us.
² We offer linkage analysis where applicable (e. g., samples available from several family members, parental consanguinity) for prioritization of genes to be tested.
³ Step-by-step analysis
All Analysis are carried out ​in Ingelheim, exceptions are those marked with *, which are carried out in ​collaborating laboratories.

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