Bloom Syndrome

TEST CODE MG03930
TEST NAME Bloom Syndrome
RELATED GENE BLM
SYNONYMOUS BLM
OMIM 210900
HEREDITY Autosomal Recessive
CLINICAL AREA Bloom Syndrome is an Autosomal Recessively inherited disease. Mutations in the BLM 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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