Megalencephalic Leukoencephalopathy Type 2A

TEST CODE MG07120
TEST NAME Megalencephalic Leukoencephalopathy Type 2A
RELATED GENE HEPACAM
SYNONYMOUS HEPACAM
OMIM 613925
HEREDITY Autosomal Recessive
CLINICAL AREA Megalencephalic Leukoencephalopathy Type 2A is an Autosomal Recessively inherited disease. Mutations in the HEPACAM 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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