Congenital NAD Deficiency Type 1

TEST CODE MG10720
TEST NAME Congenital NAD Deficiency Type 1
RELATED GENE HAAO
SYNONYMOUS HAAO
OMIM 617660
HEREDITY Autosomal Recessive
CLINICAL AREA Congenital NAD Deficiency Type 1 is an autosomal recessively inherited disease. Mutations in the HAAO 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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