Neuronal Ceroid Lipofuscinosis Type 2

TEST CODE MG02280
TEST NAME Neuronal Ceroid Lipofuscinosis Type 2
RELATED GENE TPP1
SYNONYMOUS TPP1
OMIM 204500
HEREDITY Autosomal Recessive
CLINICAL AREA Neuronal Ceroid Lipofuscinosis Type 2 is an Autosomal Recessively inherited disease. Mutations in the TPP1 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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