Neurodevelopment-Expanded

There is growing evidence for the existence of common neurodevelopmental pathways that could explain the significant overlap between intellectual disability, autism spectrum disorders, and epilepsy. Now one test targets the genes most likely to cause all of these disorders.

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Test Code 7028
Turnaround Time (TAT) 8-10 weeks
Number of Genes 196
Specimen Requirements Click here

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Why Is This Important?

  1. Availability of tailored treatment options (e.g. mTOR inhibitors for TSC1/TSC2, avoid sodium channel blockers for SCN1A)
  2. Avoid alternative, potentially invasive testing
  3. Identification of at-risk family members
  4. Improved understanding of prognosis and additional screening recommendations (e.g. ECG monitoring for MECP2

When To Consider Testing

  • Unexplained intellectual disability
  • Unexplained epilepsy
  • Unexplained autism spectrum disorders

Mutation Detection Rate

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

Test Description

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.  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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