Autoinflammatory Disease: AI Panel 3

Test Information
Test Name Autoinflammatory Disease: AI Panel 3
Lab (Location) The Hospital for Sick Children
Category Immunity
Subcategory Autoinflammatory Disease
Gene/Platform/Region List ARPC1B, CARD14, CDC42, CECR1 (ADA2), COPA, ELANE, IL1RN, IL36RN, LACC1, LPIN2, NLRC4, NOD2, OTULIN, PLCG2, POMP, PSMB8, PSTPIP1, RAB27A, RBCK1, RIPK1, SH3BP2, SLC29A3, TMEM173 (STING1), TNFAIP3, TRNT1
Test type Gene Panel
Samples Accepted Blood, DNA, DNA (Not Accepted for MLPA)
Indications Diagnosis Diagnosis, Prenatal
Test Methodology CNV, Sequencing
Methodology Notes Exome + targeted microarray
Notes DNA not accepted for MLPA