1-5 mL whole blood in EDTA For Amniotic Fluid and CVS Specimens, please call laboratory.

This group of related neurological syndromes with x-linked inheritance are allelic and are due to mutation in the L1CAM gene. Congenital hydrocephalus and resultant macrocephaly due to stenosis of the aqueduct of Sylvius may occur in isolation but is frequently associated with other features including hypoplastic or flexed, adducted thumbs. Patients are mentally retarded and have spastic paraplegia. MASA syndrome includes Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs. In addition, CRASH syndrome in includes Corpus callosum agenesis/hypoplasia, Retardation, Adducted thumbs, Spastic paraplegia, and Hydrocephalus. There can be significant phenotypic variability within families, with some males severely affected and diagnosed prenatally while others may have no macrocephaly and long survival. In the group of patients with a positive family history and more than one typical associated finding for L1CAM-associated disease, the detection rate of L1CAM mutations is greater than 90%.