Farber Lipogranulomatosis

TEST CODE MG03110
TEST NAME Farber Lipogranulomatosis
RELATED GENE ASAH1
SYNONYMOUS ASAH1
OMIM 228000
HEREDITY Autosomal Recessive
CLINICAL AREA Farber Lipogranulomatosis is an autosomal recessively inherited disease. Mutations in the ASAH1 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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