Acute Recurrent Myoglobinuria

TEST CODE MG08590
TEST NAME Acute Recurrent Myoglobinuria
RELATED GENE LPIN1
SYNONYMOUS LPIN1
OMIM 605518
HEREDITY Autosomal Recessive
CLINICAL AREA Acute Recurrent Myoglobinuria is an Autosomal Recessively inherited disease. Mutations in the LPIN1 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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