Chylomicron Retention Disease
TEST CODE | MG08690 |
TEST NAME | Chylomicron Retention Disease |
RELATED GENE | SAR1B |
SYNONYMOUS | SAR1B |
OMIM | 607690 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Chylomicron Retention Disease is an autosomal recessive disease. Mutations in the SAR1B 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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