Carrier Screening（ full content ）

Introduction

AssuriT-eWES-CS delivers comprehensive genomic risk assessment through expanded whole-exome sequencing, which providing actionable insights for reproductive planning and lifelong health management. This clinically validated solution simultaneously evaluates:

Inherited carrier status (autosomal recessive/X-linked disorders)

Adult-onset monogenic disorders (including hereditary cancer risks)

Dynamic repeat expansion conditions (e.g., Huntington’s disease, Fragile X syndrome)

Mitochondrial disorders

Infertility-associated genetic markers

Pharmacogenomic variants influencing drug metabolism

Technology Highlights

Comprehensive Scope

• Full exome coverage: Interprets clinically significant variants across all protein-coding genes

• Evidence-based annotation updates: Dynamically incorporates latest disease classifications

• Dual clinical utility: Validated for both reproductive risk assessment and adult-onset disease screening

Advanced Detection Capabilities

1.Specialized variant detection:

 • FMR1 CGG repeats

 • F8 intron 22 inversions

 • CYP21A2 fusion genes

 • Small exon copy number variations (CNVs)

2.Full spectrum of dynamic mutations: 15 disorders including Huntington’s disease

3.Complete mitochondrial genome analysis (16.6 kb coverage)

Clinical Indications

• Preconception/prenatal carrier screening for autosomal recessive/X-linked disorders

• Risk assessment for adult-onset conditions (e.g., hereditary cancers)

• Evaluation of infertility etiology or medication response variants

• Newborn screening adjunct for metabolic disorders

Target Population

Reproductive-age couples planning pregnancy

Adults seeking personal genetic risk insights

IVF patients requiring embryo prioritization

Families with undiagnosed genetic disease histories