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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