Acromesomelic Dysplasia

TEST CODE MG03240
TEST NAME Acromesomelic Dysplasia
RELATED GENE NPR2
SYNONYMOUS NPR2
OMIM 617116
HEREDITY Autosomal Dominant
CLINICAL AREA Acromesomelic Dysplasia is an autosomal dominantly inherited disease. Mutations in the NPR2 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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