Autosomal recessive microcepahly, infantile-onset seizures and developmental delay (MCSZ) is a relatively more severe disorder than autosomal recessive primary microcephaly. Mental retardation is usually severe to profound with variable behavioral problems and seizures are severe and intractable. Mutations in the PNKP gene have been reported in several families with MCSZ. Both homozygous, consanguineous patients and compound heterozygotes were reported. We offer deletion/duplication analysis for PNKP, which is performed by oligonucleotide array-CGH. PNKP deletion/duplication analysis is also available as part of the Microcephaly Tier 2 Deletion/Duplication Panel, or the Early Infantile Epileptic Encephalopathy Panel. Please see our information sheets for more details.
Specimen Types Accepted
If sending saliva, 2 kits are required.