FH Gene Screening

TEST CODE MG04880
TEST NAME FH Gene Screening
RELATED GENE FH
SYNONYMOUS FH
OMIM 606812
HEREDITY Autosomal Recessive
CLINICAL AREA Fumarase Deficiency is a disease transmitted as Autosomal Recessive. Mutations in the FH 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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