Ceroid Lipofuscinosis Panel (13 Genes)
| TEST CODE | MGT0180 |
| TEST NAME | Ceroid Lipofuscinosis Panel (13 Genes) |
| RELATED GENE | ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1 |
| SYNONYMOUS | ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1 |
| OMIM | |
| HEREDITY | |
| CLINICAL AREA | Neuronal ceroid lipofuscinoses are the most common neurodegenerative diseases in childhood, characterized by autosomal recessive inheritance, epileptic seizures, progressive psychomotor deterioration, vision loss and early death. In the panel, 13 genes associated with neuronal ceroid lipofuscinoses are examined. |
| METHOD | Next Generation Sequencing (NGS) |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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