Neuronal Ceroid Lipofuscinosis type 5

TEST CODE MG08150
TEST NAME Neuronal Ceroid Lipofuscinosis type 5
RELATED GENE CLN5
SYNONYMOUS CLN5
OMIM 608102
HEREDITY Autosomal Recessive
CLINICAL AREA Neuronal Ceroid Lipofuscinosis type 5 is an Autosomal Recessively inherited disease. Mutations in the CLN5 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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