Diamond-Blackfan Anemia Type 6

TEST CODE MG06720
TEST NAME Diamond-Blackfan Anemia Type 6
RELATED GENE RPL5
SYNONYMOUS RPL5
OMIM 612561
HEREDITY Autosomal Dominant
CLINICAL AREA Diamond-Blackfan Anemia Type 6 is an autosomal dominantly inherited disease. Mutations in the RPL5 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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