9005

GTD Indications Diagnosis Prenatal GTD Samples Accepted Blood DNA GTD Test Methodology CNV Sequencing GTD Methodology Notes Exome + targeted microarray Generic Test name (cms title) Recurrent Fever Syndrome GTD Test type Gene Panel GTD Location The Hospital for Sick Children GTD Gene/Platform/Region List MEFV, MVK, NLRP12, NLRP3, TNFRSF1A GTD Category Immunity GTD Disease/Condition Recurrent Fever Syndrome and Macrophage Activation Syndrome (MAS), Autosomal Dominant Familial Periodic Fever, Blau Syndrome, Cat Eye syndrome, Chronic Infantile Neurological Cutaneous and Articular Syndrome, Cyclic Neutropenia, DADA2 / PAN, Familial Cold Autoinflammatory Syndrome 1, Familial Mediterranean Fever, Hyper IgD Syndrome, Macrophage activation syndrome MAS, Majeed syndrome, Muckle-Wells Syndrome, PAPA (Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome), Periodic Fever, Pityriasis Rubra Pilaris (PRP), Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne, Recurrent fever, Severe congenital neutropenia, TRAPS