Acrodysostosis Type 1

TEST CODE MG09650
TEST NAME Acrodysostosis Type 1
RELATED GENE PRKAR1A
SYNONYMOUS PRKAR1A
OMIM 101800
HEREDITY Autosomal Dominant
CLINICAL AREA Acrodysostosis Type 1 is an Autosomal Dominant inherited disease. Mutations in the PRKAR1A 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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