PNP Sequence Analysis

TEST CODE MG07300
TEST NAME PNP Sequence Analysis
RELATED GENE PNP
SYNONYMOUS PNP
OMIM 613179
HEREDITY Autosomal Recessive
CLINICAL AREA Purine Nucleoside Phosphorylase Deficiency Immunodeficiency is an autosomal recessive disease. Mutations in the PNP 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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