Infantile spasms involve momentary flexion of the neck, trunk, or extremities, onsetting within the first year of life and subsiding during late infancy.  Affected children may develop other seizures and have severe developmental delays.  West syndrome is the triad of infantile spasms, hypsarrhythmia, and severe mental retardation.  Early onset and congenital forms of Rett syndrome include infantile spasms or early-onset epileptic seizures. We offer full gene sequencing for all coding exons and the intron/exon boundaries of MECP2, ARX, CDKL5, and FOXG1.  We also offer MLPA to detect intragenic deletions within MECP2, ARX, and CDKL5.  These tests are offered together as a panel or separately.

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