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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