Zellweger Syndrome

TEST CODE MG03050
TEST NAME Zellweger Syndrome
RELATED GENE PEX1
SYNONYMOUS PEX1
OMIM 214100
HEREDITY Autosomal Recessive
CLINICAL AREA Zellweger Syndrome (Peroxisome Biogenesis Disease 1A) is an Autosomal Recessively inherited disease. Mutations in the PEX1 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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