Peroxisomal Biogenesis Disorder

TEST CODE MG07280
TEST NAME Peroxisomal Biogenesis Disorder
RELATED GENE PEX7
SYNONYMOUS PEX7
OMIM 614879
HEREDITY Autosomal Recessive
CLINICAL AREA Peroxisomal Biogenesis Disorder 9B is an Autosomal Recessively inherited disease. Mutations in the PEX7 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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