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 7024
Turnaround Time (TAT) 14-21 days
Number of Genes 48

Ordering Options

We offer family variant testing at no additional cost

for all blood relatives of patients who undergo full single gene sequencing or multigene panel testing* at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original Ambry report date.

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*excludes Secondary Findings and SNP Array tests

Mutation Detection Rate

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

Test Description

AutismNext includes 48 genes associated with both syndromic and non-syndromic Autism Spectrum Disorder, all of these genes are included in our Neurodevelopment-Expanded panel as well.

This test includes gene sequencing and deletion/duplication analysis. FMR1 repeat expansion testing is 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 and next generation sequencing. 

Sanger sequencing is performed for any regions missing, or with insufficient read depth coverage for reliable heterozygous variant detection. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality 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 using a custom pipeline based on read-depth from NGS data and/or targeted chromosomal microarray with confirmatory MLPA when applicable.

1. Tammimies Ket al. Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder. JAMA. 2015 Sep;314(9):895-903.

2. Schaefer GB, et al. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med. 2013 May;15(5):399-407.

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