CustomNext-Neuro

CustomNext-Neuro gives you the flexibility to choose up to 500 genes from our neurology menu associated with intellectual disability, autism spectrum disorders, and/or epilepsy so you can design a test that best fits the needs of your patient to find a clear diagnosis and inform medical management.

Quick Reference
Test Code 9545
Turnaround Time (TAT) 2-4 weeks
Number of Genes 1406

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


Test Description

Ambry Genetics neurology panels are completed via whole exome capture with targeted analysis of clinically relevant gene lists.1 Exome sequencing covers >98% of mutations identified on next generation sequencing panelsFMR1 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.  

Co-segregation studies are performed if family members are available. 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.  LaDuca H, Farwell KD, Vuong H, et al., 2017. PLoS ONE 12(2):e0170843

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