Macrocephaly is defined as a head circumference which is greater than 2 standard deviations larger than the average for a given age and sex, inclusive of the scalp, cranial bone and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain) or due to other conditions such as hydrocephalus or cranial thickening.  

The Macrocephaly Panel includes sequence and deletion/duplication analysis of over 65 genes associated with syndromic and non-syndromic forms of macrocephaly. 

Institutional Price 
$3,000.00
TAT 
6 weeks
CPT Code 
81443
Test Code 
1220
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Additional Information 
Any gene in the Macrocephaly Panel can also be ordered individually. Please contact us directly for cost and CPT code information.