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 
1210
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Additional Information 
Any gene in the Autosomal Recessive Non-Specific Intellectual Disability Panel can also be ordered individually. Please contact us directly for cost and CPT code information.