CustomNext-Neuro

CustomNext-Neuro is a customizable gene sequencing and deletion/duplication panel that analyzes up to 196 genes associated with intellectual disability, autism spectrum disorders, and epilepsy.   

Quick Reference
Test Code 9540
Turnaround Time (TAT) 14-21 days [*]
Number of Genes 196
* Orders with >140 genes will have a TAT of 4-6 weeks

Ordering Options

We now offer single site analysis (SSA) at no additional cost to family members

following single gene or panel testing* of the first family member (proband) within 90 days of the original Ambry report date.

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*excludes Exome and SNP Array tests

Mutation Detection Rate

CustomNext-Neuro can detect >99.9% of described sequencing and deletion/duplication mutations in the included genes, when present (analytic sensitivity).

Test Description

CustomNext-Neuro analyzes up to 196 genes (listed above) selected by the ordering healthcare provider. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized methodology and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by bait-capture methodology using long biotinylated oligonucleotide probes, followed by polymerase chain reaction (PCR) and next generation sequencing (NGS). All selected genes are evaluated by NGS or Sanger sequencing of all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions.

Additional 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.Gross deletion/duplication analysis is performed using a custom pipeline based on read-depth from NGS data and/or targeted chromosomal microarray with confirmatory MLPA when applicable. 

1.  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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