Cost 
$3,500.00
TAT 
8 weeks
CPT Code 
81407
Test Code 
1239
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Notes 
If sending saliva, 2 kits are required.
Any gene in the Autosomal Recessive Primary Microcephaly Tier 2 Panel can also be ordered individually. Please contact us directly for cost and CPT code information.

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 gene are the most common cause of Autosomal Recessive Primary Microcephaly. Approximately 40% of patients (both consanguineous and non-consanguineous) with a strict diagnosis of Autosomal Recessive Primary Microcephaly have mutations in ASPM. Several other genes have also been reported to cause Autosomal Recessive Primary Microcephaly in a small number of families. For patients who do not have a mutation in ASPM, our Autosomal Recessive Primary Microcephaly Tier 2 Sequencing Panel includes full gene sequencing for 18 genes associated with Autosomal Recessive Primary Microcephaly or similar phenotypes. Our MCPH Tier 2 Deletion/Duplication Panel includes deletion/duplication analysis by array-CGH for 16 genes.

Our Autosomal Recessive Primary Microcephaly Sequencing Panel includes sequence analysis of the following 18 genes: ARFGEF2, CASC5, CDK5RAP2, CDK6, CENPJ, CEP135, CEP152, CEP63, MCPH1, MED17, NDE1, PHC1, PNKP, SLC25A19, STAMBP, STIL, WDR62, ZNF335.

Please see our information sheet for more details on pricing and testing strategy.

Any gene in the Autosomal Recessive Primary Microcephaly Tier 2 Panels can also be ordered individually. Please contact us directly for cost and CPT code information.