CINCA Syndrome

TEST CODE MG04340
TEST NAME CINCA Syndrome
RELATED GENE NLRP3
SYNONYMOUS NLRP3
OMIM 607115
HEREDITY Autosomal Dominant
CLINICAL AREA CINCA Syndrome is an autosomal dominantly inherited disease. Mutations in the NLRP3 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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