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) 4-6 weeks
Number of Genes 196

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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

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 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 (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. 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.

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