Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81407
Test Code 
1240
Test Methods 
Sequencing
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA

Autosomal recessive primary microcephaly (MCPH) is characterized by: congenital microcephaly (3 SD below the mean at birth or at least 4 SD below the mean at later ages) mental retardation, but no other neurological findings (febrile or other mild seizures do not exclude the diagnosis) normal or mildly short stature that is less severe than the markedly small head circumference normal weight and appearance except for the microcephaly Mutations in the ASPM [OMIM #605481] 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. Contact The Foundation for Children with Microcephaly (www.childrenwithmicro.org) for more information and support.