Primary Hyperoxaluria Type 2

TEST CODE MG08160
TEST NAME Primary Hyperoxaluria Type 2
RELATED GENE GRHPR
SYNONYMOUS GRHPR
OMIM 604296
HEREDITY Autosomal Recessive
CLINICAL AREA Primary Hyperoxaluria Type 2 is an Autosomal Recessively inherited disease. Mutations in the GRHPR 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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