Adenosine Deaminase 2 Deficiency

TEST CODE MG07080
TEST NAME Adenosine Deaminase 2 Deficiency
RELATED GENE CECR1
SYNONYMOUS CECR1
OMIM 615688
HEREDITY Autosomal Recessive
CLINICAL AREA Adenosine Deaminase 2 Deficiency is an autosomal recessive disease. Mutations in the CECR1 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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