We are now offering full gene sequencing of the five known genes for autosomal recessive primary microcephaly (MCPH).  Autosomal recessive primary microcephaly (MCPH) is characterized by congenital microcephaly, mental retardation (but no other neurological findings), normal or mildly short stature, and normal weight and appearance.  Mutations in the ASPM gene are the most common cause of MCPH.  Approximately 40% of patients (both consanguineous and non-consanguineous) with a strict diagnosis of MCPH have mutations in ASPM.  A small number of families with MCPH have been reported with mutations in CDK5RAP2, CENPJ, MCPH1, or STIL.  Our lab offers full sequencing of ASPM.  If this is negative, you may choose to order our MCPH Tier 2 Panel.  This panel includes full sequencing of the CDK5RAP2, CENPJ, MCPH1, and STIL genes.  Sequencing for these genes cannot be ordered individually.

More information on Microcephaly Tier 2 Panel