Diagnostics-eWES（ full content ）

Introduction

AssuriT-eWES-Dx is a next-generation triple-in-one molecular diagnostic solution that integrates Whole Exome Sequencing (WES), Chromosomal Microarray Analysis (CMA), and CNV-seq technologies into a single assay. Designed for prenatal diagnostics, pediatrics, oncology, and reproductive medicine, it enables simultaneous detection of sequence variants (SNVs/indels), structural variants (CNVs), mitochondrial disorders, and uniparental disomy (UPD) with unparalleled efficiency.

Technology Highlights

Expanded Capture Design: Augments standard WES with:

• Genome-wide high-density SNP backbone (CMA-equivalent resolution)

• Enhanced probes for ClinGen-curated CNV regions, GC-rich/repetitive regions

• Targeted coverage of critical genes (e.g., DMD, SMN1/2, HBA1/2)

Comprehensive detection:

Sequence variants: Single nucleotide variants (SNVs) and indels (1–50 bp)

Structural variants: Exon-level CNVs (100 bp–100 kb), chromosome-level aneuploidies/CNVs (>100 kb)

Specialized variants: Mitochondrial genome mutations, uniparental disomy (UPD), 13 repeat expansion disorders

Full Automation: Supports end-to-end workflow from extraction to reporting

Platform Flexibility: Compatible with multiple sequencing platforms.

Clinical Indications： 

• Prenatal diagnosis of fetal structural anomalies

• Unexplained neurodevelopmental disorders

• Suspected genetic syndromes with heterogeneous presentations

• Recurrent pregnancy loss or family history of genetic diseases

• Tumor profiling and inherited cancer risk assessment

Target Population：

Prenatal cases with abnormal ultrasound findings

Pediatric patients with undiagnosed complex phenotypes

Oncology patients requiring comprehensive genomic profiling

Couples with consanguinity or recurrent reproductive failures