Neuronal Ceroid Lipofuscinosis Type 1

TEST CODE MG02290
TEST NAME Neuronal Ceroid Lipofuscinosis Type 1
RELATED GENE PPT1
SYNONYMOUS PPT1
OMIM 256730
HEREDITY Autosomal Recessive
CLINICAL AREA Neuronal Ceroid Lipofuscinosis Type 1 is an Autosomal Recessively inherited disease. Mutations in the PPT1 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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