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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