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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