Methemoglobin Type 1

TEST CODE MG05250
TEST NAME Methemoglobin Type 1
RELATED GENE CYB5R3
SYNONYMOUS CYB5R3
OMIM 250800
HEREDITY Autosomal Recessive
CLINICAL AREA Methemoglobinemia Type 1 is an autosomal recessive disease. Mutations in the CYB5R3 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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