Pelizaeus-Merzbacher Disease
TEST CODE | MG05790 |
TEST NAME | Pelizaeus-Merzbacher Disease |
RELATED GENE | PLP1 |
SYNONYMOUS | PLP1 |
OMIM | 312080 |
HEREDITY | X Linked Recessive |
CLINICAL AREA | Pelizaeus-Merzbacher Disease is an X-linked recessive disease. Mutations in the PLP1 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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