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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