Diamond-Blackfan Anemia Type 1

TEST CODE MG08740
TEST NAME Diamond-Blackfan Anemia Type 1
RELATED GENE RPS19
SYNONYMOUS RPS19
OMIM 603474
HEREDITY Autosomal Dominant
CLINICAL AREA Diamond-Blackfan Anemia Type 1 is an autosomal dominantly inherited disease. Mutations in the RPS19 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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