Arthrogyrposis Congenita Neurogenic Type

TEST CODE MG07550
TEST NAME Arthrogyrposis Congenita Neurogenic Type
RELATED GENE ERGIC1
SYNONYMOUS ERGIC1
OMIM 208100
HEREDITY Autosomal Recessive
CLINICAL AREA Arthrogyrposis Congenita Neurogenic Type 2 is an Autosomal Recessively inherited disease. Mutations in the ERGIC1 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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