Antley-Bixler Syndrome

TEST CODE MG04520
TEST NAME Antley-Bixler Syndrome
RELATED GENE POR
SYNONYMOUS POR
OMIM 201750
HEREDITY Autosomal Recessive
CLINICAL AREA Antley-Bixler Syndrome is an Autosomal Recessively inherited disease. Mutations in the POR 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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