Pseudohypoaldos Type 1

TEST CODE MG04470
TEST NAME Pseudohypoaldos Type 1
RELATED GENE SCNN1A
SYNONYMOUS SCNN1A
OMIM 264350
HEREDITY Autosomal Recessive
CLINICAL AREA Pseudohypoaldos Type 1 is an Autosomal Recessively inherited disease. Mutations in the SCNN1A 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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