Intellectual disability (ID) is a lifelong disability that presents in infancy or the early childhood years and is typically measured in three domains: intelligence (IQ), adaptive behavior and systems of support. Non-syndromic ID refers to the presence of ID without accompanying additional  physical, neurological, and/or metabolic abnormalities. The prevalence of ID (syndromic and non-syndromic) is estimated to be between 1% - 3%.  In general, there is wide variation in the causes of ID: 18 – 44% of cases have exogenous causes (like teratogen exposure or infection) and 17 – 47% have genetic causes. The etiology remains unknown in up to 80% of cases with mild intellectual disability. Depending on the underlying etiology, the recurrence risk can vary between the background and 50%.

The distinction between syndromic and non-syndromic ID is not precise.  Conditions previously regarded as non-syndromic forms of ID may have additional clinical findings that were not intially recognized or emphasized, thus a range of mutations in a single gene can sometimes confer both syndromic and non-syndromic phenotypes.  Our ‘non-specific’ ID panels include mainly non-syndromic forms of ID, but also include many syndromic forms of ID to account for the above. This panel includes sequence and deletion/duplication analysis of all the listed genes. 

Institutional Price 
$3,000.00
TAT 
6 weeks
CPT Code 
81443
Test Code 
1212
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Genes 

ARX

CA8

CIC

DCX

EZR

NF1

NHS

SMS

SYP

WAC

Additional Information 
Any gene in the Comprehensive Non-Specific Intellectual Disability Panel can also be ordered individually. Please contact us directly for cost and CPT code information.