Zellweger Syndrome
TEST CODE | MG03050 |
TEST NAME | Zellweger Syndrome |
RELATED GENE | PEX1 |
SYNONYMOUS | PEX1 |
OMIM | 214100 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Zellweger Syndrome (Peroxisome Biogenesis Disease 1A) is an Autosomal Recessively inherited disease. Mutations in the PEX1 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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