Zellweger Syndrome Panel (12 Genes)
| TEST CODE | MGT0120 |
| TEST NAME | Zellweger Syndrome Panel (12 Genes) |
| RELATED GENE | PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26 |
| SYNONYMOUS | PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26 |
| OMIM | |
| HEREDITY | |
| CLINICAL AREA | Zellweger syndrome (ZS) is a rare congenital and Autosomal Recessive disease, characterized by the decrease or absence of peroxisomes in the cells of the liver, kidney and brain. Patients have symptoms such as typical facial structure, visual and hearing impairment, hypotonia, liver enlargement, cysts in the kidneys, neurological findings such as mental retardation and epileptic seizures, and enteral feeding difficulty. Within the scope of the panel, 12 genes associated with the disease are examined. |
| METHOD | Next Generation Sequencing (NGS) |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
ORDER OPTIONS AND PRICING
Discover genetic insights at your convenience. Contact Mikrogen anytime for information on order options, pricing, and comprehensive genetic testing services