Congenital Adrenal Hypoplasia NR0B1

TEST CODE MG07180
TEST NAME Congenital Adrenal Hypoplasia NR0B1
RELATED GENE NR0B1
SYNONYMOUS NR0B1
OMIM 300200
HEREDITY X Linked Recessive
CLINICAL AREA Congenital Adrenal Hypoplasia is an x-linked recessive disease. Mutations in the NR0B1 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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