Autism Spectrum Disorders Testing at PreventionGenetics

Published on

In observance of Autism Awareness Month, PreventionGenetics announces our new Autism Spectrum Disorders (ASD) Panel with CNV Detection. Our panel includes both sequencing and copy number variant (CNV) analysis of 108 genes, all of which are either documented causative for ASD or highly suggested to be linked with ASD in the literature. We also offer Fragile X testing (FMR1 repeat expansion testing), as a common cause for ASDs and Intellectual Disabilities (IDs).  


ASDs are common, affecting approximately 1 in 68 individuals.  Both males and females are affected but the male-to-female ratio of ASDs are 4:1.  ASDs are multifactorial, with estimates ranging between 50-90% having genetic components.  The clinical presentation of Intellectual Disabilities (IDs) can overlap with ASDs. 

Our Testing Options

PreventionGenetics has developed testing options for those interested in either comprehensive or focused ASD analyses.  Our comprehensive ASD-ID panel includes ~2000 genes with both associations to ASD and syndromic/nonsyndromic intellectual disabilities.  Due to the relevance of de novo variation in ASD, we recommend trio analysis. Only variants relevant to the patient’s clinical features are reported for this test.

The Autism Spectrum Disorders and X-Linked Intellectual Disability sequencing panels are focused panels in which any variant interpreted as uncertain or higher is confirmed and included in the report.  These panels include genes that have either been frequently linked to ASD phenotypes or have strong literature associations with ASD or X-linked intellectual disability.

Autism Spectrum Disorders Sequencing Panel with CNV Detection
Test #5061        108 genes        $1240

X-Linked Intellectual Disability Panel with CNV Detection
Test# 2675        81 genes          $990

Fragile X Syndrome via FMR1 CGG Repeat Expansion
Test# 558                                        $390

Autism Spectrum Disorders and Intellectual Disability Comprehensive Sequencing Panel
with CNV Detection

(~2,000 genes)
Individual (Proband)                                   Test #5045                          $2490
Duo (Proband + Family Member)         Test# 5045, 5044            $3490
Trio (Proband + 2 Family Members)    Test# 5045, 5044(x2)    $4490
Turnaround Time - the great majority of tests will be completed within 5 weeks.

Reflex to PGxome

With all of these sequencing tests, reflex to our individual PGxome® is available for $990-$1500.

Getting Started

Order a test kit and complete a Standard Test Requisition Form for our Autism Spectrum Disorder Panel and X-Linked Intellectual Disability Panels.  Use our Autism Spectrum Disorders and Intellectual Disability Test Requisition Form for that test. Requisition forms may be downloaded from our website, or better, complete the requisitions forms more easily through our myPrevent online portal.