Central Hypoventilation Syndrome

TEST CODE MG00730
TEST NAME Central Hypoventilation Syndrome
RELATED GENE ASCL1
SYNONYMOUS ASCL1
OMIM 100790
HEREDITY Autosomal Dominant
CLINICAL AREA Central Hypoventilation Syndrome is an Autosomal Dominant inherited disease. Mutations in the ASCL1 gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA
QUANTITY 3 mL
TAT 21 DAYS

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