Carrier Screening Duo and Trio Analysis

Key advantages

• Simultaneous analysis of two or three related individuals (duo or trio) to increase diagnostic accuracy

• Identification of carrier status for autosomal recessive and X-linked conditionss
  

• Improved detection of compound heterozygosity and complex inheritance patterns

• Facilitates genetic counseling and reproductive decision-making

• Reduces false positives and incidental findings by family-context interpretation

• Supports a broad range of inherited disorders including metabolic, hematologic, and neuromuscular diseases

• Non-invasive sample collection via blood or saliva

   

Technical specifications

• Sequencing coverage: Clinical-grade 30X whole genome or targeted panel sequencing

• Variant types detected: SNPs, Indels, CNVs, structural variants relevant to carrier screening

• Bioinformatics pipeline: Family-based variant calling, phasing, and inheritance modeling

• Data output: FASTQ, BAM, VCF, annotated variant reports with pathogenicity classification

• Interpretation: ACMG guidelines-based variant interpretation and reporting

• Platforms: Illumina NovaSeq Series, MGI sequencers

• Turnaround time: Typically 3-4 weeks, scalable depending on sample volume

• Sample types: Peripheral blood, saliva kits, or DBS cards