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Disease Name: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations
Genes Covered:ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA, IL10RB, IL2RA, ITCH, ITK, LYST, PLCG2, PRF1, RAB27A, SH2D1A, STAT3, STAT5B, STX11, STXBP2, TMEM173, UNC13D, XIAP
Panel: Strand Clinical Exome Test
Disorder Category: Immune dysregulation diseases
Turnaround Time: 5-6 weeks from receipt of sample in the lab