Pseudo Achondroplasia

TEST CODE MG02560
TEST NAME Pseudo Achondroplasia
RELATED GENE COMP
SYNONYMOUS COMP
OMIM 177170
HEREDITY Autosomal Dominant
CLINICAL AREA Pseudo Achondroplasia is an autosomal dominantly inherited disease. Mutations in the COMP 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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