Genetic testing is recommended for all children with an autism spectrum disorder. An underlying cause can be identified in 30-40% of affected individuals.1,2 Establishing an underlying molecular cause can be a critical step in providing accurate diagnosis, treatment, prognosis, and genetic counseling.


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Test Code 7023
Turnaround Time (TAT) 3-4 weeks
Number of Genes 16
Specimen Requirements Click here

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Mutation Detection Rate

AutismFirst can detect >99.9% of described mutations in the included genes, when present (analytic sensitivity).

Test Description

AutismFirst includes 16 genes for inherited conditions known to cause ASDs, all recognized by the American College of Medical Genetics and Genomics. This test includes gene sequencing and deletion/duplication analysis. FMR1 repeat expansion testing and Angelman/Prader-Willi methylation studies are not included in this test, but can be ordered concurrently. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes, followed by polymerase chain reaction (PCR) and next generation sequencing (NGS). 

Sanger sequencing is performed for any regions missing, or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing. This assay targets all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions. Gross deletion/duplication analysis for available genes is performed utilizing a targeted chromosomal microarray.

1. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. Washington, DC. 2013.

2. Baio J. Centers for Disease Control and Prevention. Prevalence of autism spectrum disorder among children aged 8 years—autism and developmental disabilities monitoring network, 11 sites, United States, 2010. Surveillance Summaries. 2014;63(SS02):1-21.

3. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016. 18(6):923-932.

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