Oliver-McFarlane Syndrome

TEST CODE MG08970
TEST NAME Oliver-McFarlane Syndrome
RELATED GENE PNPLA6
SYNONYMOUS PNPLA6
OMIM 275400
HEREDITY Autosomal Recessive
CLINICAL AREA Oliver-McFarlane Syndrome is an autosomal recessive disease. Mutations in the PNPLA6 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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