Hyperprolinemia type II

TEST CODE MG10460
TEST NAME Hyperprolinemia type II
RELATED GENE ALDH4A1
SYNONYMOUS ALDH4A1
OMIM 239510
HEREDITY Autosomal Recessive
CLINICAL AREA Hyperprolinemia type II is an Autosomal Recessively inherited disease. Mutations in the ALDH4A1 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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