Charge Syndrome

TEST CODE MG09070
TEST NAME Charge Syndrome
RELATED GENE CHD7
SYNONYMOUS CHD7
OMIM 214800
HEREDITY Autosomal Dominant
CLINICAL AREA Charge Syndrome is an autosomal dominantly inherited disease. Mutations in the CHD7 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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