Dyskeratosis Congenita

TEST CODE MG05360
TEST NAME Dyskeratosis Congenita
RELATED GENE DKC1
SYNONYMOUS DKC1
OMIM 305000
HEREDITY X-linked Recessive
CLINICAL AREA Dyskeratosis Congenita is an X-linked recessive disease. Mutations in the DKC1 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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