Genomics
Whole Exome Sequencing (NeuraXome®)
Comprehensive coding-region sequencing for rare and complex cases
Whole exome sequencing (WES) analyzes the protein-coding portion of the genome and is ideal when targeted panels are inconclusive or when a broader search for disease-causing variants is needed.
$999.00
Overview
- Detects rare coding variants
- High diagnostic yield for unexplained cases
- Doctor-friendly clinical reporting
Whole Exome Sequencing (WES) — NeuraXome®
WES sequences the exons — the protein-coding regions — which contain the majority of known disease-causing mutations. Compared to targeted panels, WES provides broader coverage and higher diagnostic yield for rare or atypical presentations.
Clinical advantages
- Improved diagnostic capability for rare genetic disorders and syndromic presentations.
- Useful where family history suggests a genetic cause but targeted testing was negative.
- Results often include pathogenic, likely-pathogenic variants, and variants of uncertain significance with recommended clinical follow-up.
Pre-test and sample notes
High-quality DNA is essential. Follow kit instructions: avoid food, drink, and oral hygiene products 30 minutes before providing saliva. WES is recommended when a comprehensive, clinically focused genomic investigation is needed.