Lissencephaly Type 1

TEST CODE MG09030
TEST NAME Lissencephaly Type 1
RELATED GENE PAFAH1B1
SYNONYMOUS PAFAH1B1
OMIM 607432
HEREDITY Autosomal Dominant
CLINICAL AREA Lissencephaly Type 1 is an autosomal dominantly inherited disease. Mutations in the PAFAH1B1 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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