Periodic Fever Syndrome (CAPS1)

TEST CODE MG02380
TEST NAME Periodic Fever Syndrome (CAPS1)
RELATED GENE NLRP3
SYNONYMOUS NLRP3
OMIM 120100
HEREDITY Autosomal Recessive
CLINICAL AREA Periodic Fever Syndrome (CAPS1) is an autosomal dominantly inherited disease. Mutations in the TNFRSF1A gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA
QUANTITY 3 mL
TAT 40 DAYS

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