AutismNext analyzes 72 genes primarily associated with non-syndromic presentations of autism spectrum disorders and/or intellectual disability.
AutismNext includes 72 genes associated with non-syndromic autism spectrum disorders.
Ambry Genetics neurology panels are completed via whole exome capture with targeted analysis of clinically relevant gene lists.3 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 methodology and quantified. Each DNA sample is sheared, adaptor ligated, PCR-amplified and incubated with the exome baits. Captured DNA is eluted, and PCR amplified. Final quantified libraries are seeded onto an Illumina flow cell and sequenced using paired-end, 150 cycle chemistry on the Illumina HiSeq or NextSeq.
Coding exons plus at least 6 bases into the 5’ and 3’ ends of all the introns are analyzed and reported. Gross deletion/duplication analysis is assessed for all genes within the targeted exome using a custom pipeline based on coverage (>4 exons in size) and/or breakpoint analysis from NGS data and confirmed by targeted chromosomal microarray, SNP array or MLPA when applicable. CNVs detected by NGS pipeline for which no orthogonal method of confirmation is available will not be included. Variants of uncertain significance (VUS), if present, are not routinely reported, unless the ordering provider opts-in to VUS reporting at the time of ordering.
When familial samples are received, co-segregation analysis of potentially informative alterations will be performed, except for gross deletions/duplications which are confirmed in the proband only. Co-segregation results may be confounded by many factors which cannot be completely ruled out including reduced penetrance, age-of-onset, and/or variable expressivity. In most cases, phase cannot be determined.
1. Tammimies K, et 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.
3. LaDuca H, Farwell KD, Vuong H, et al., 2017. PLoS ONE 12(2):e0170843
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.
Test Description
AutismNext includes 72 genes associated with non-syndromic autism spectrum disorders.
Ambry Genetics neurology panels are completed via whole exome capture with targeted analysis of clinically relevant gene lists.3 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 methodology and quantified. Each DNA sample is sheared, adaptor ligated, PCR-amplified and incubated with the exome baits. Captured DNA is eluted, and PCR amplified. Final quantified libraries are seeded onto an Illumina flow cell and sequenced using paired-end, 150 cycle chemistry on the Illumina HiSeq or NextSeq.
Coding exons plus at least 6 bases into the 5’ and 3’ ends of all the introns are analyzed and reported. Gross deletion/duplication analysis is assessed for all genes within the targeted exome using a custom pipeline based on coverage (>4 exons in size) and/or breakpoint analysis from NGS data and confirmed by targeted chromosomal microarray, SNP array or MLPA when applicable. CNVs detected by NGS pipeline for which no orthogonal method of confirmation is available will not be included. Variants of uncertain significance (VUS), if present, are not routinely reported, unless the ordering provider opts-in to VUS reporting at the time of ordering.
When familial samples are received, co-segregation analysis of potentially informative alterations will be performed, except for gross deletions/duplications which are confirmed in the proband only. Co-segregation results may be confounded by many factors which cannot be completely ruled out including reduced penetrance, age-of-onset, and/or variable expressivity. In most cases, phase cannot be determined.
1. Tammimies K, et 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.
3. LaDuca H, Farwell KD, Vuong H, et al., 2017. PLoS ONE 12(2):e0170843
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