Support every stage of the reproductive journey with comprehensive carrier screening, precise prenatal CNV detection, and integrated reproductive risk assessment.
Partner Workflow
Side-by-side analysis of partner samples to identify shared pathogenic variants and reproductive risk.
Support for the standardized carrier screening gene panels and classification guidelines.
Automated risk calculations for recessive conditions where both partners are carriers.
Reproductive genomics labs require specialized tools to identify carriers of autosomal recessive and X-linked conditions. VarSeq provides a comprehensive environment for preconception risk assessment and partner screening.
Automate the identification of pathogenic variants in high-priority genes like CFTR, SMN1, and HBB across gene panels or whole exomes.
Generate combined reports that automatically calculate recurrence risk for prospective parents based on shared carrier status.
Standardize laboratory language and classification criteria to deliver clear, actionable reports for genetic counselors and OB/GYNs.
Move beyond the limitations of karyotyping and microarray. VarSeq enables the detection of aneuploidies and pathogenic microdeletions directly from NGS data, providing higher resolution and diagnostic yield.
Integrated support for whole-chromosome aneuploidy detection (T21, T18, T13) with clinically validated z-score and coverage analysis.
Identify small, sub-microscopic deletions associated with syndromes such as DiGeorge (22q11.2) and Cri-du-chat (5p-) using VS-CNV.
WES identifies pathogenic variants in a significant majority of cases where standard tests are inconclusive.
Reproductive genomics involves complex interpretation challenges. VarSeq provides a guided environment for classification and incidental findings management.
Automate the five-tier ACMG classification for carrier variants. Aggregate population frequencies, conservation scores, and literature evidence in a unified workflow.
ACMG WorkflowManage reportable secondary findings (ACMG 73+ list) with built-in opt-out support and standardized reporting for adult-onset conditions detected in prenatal contexts.
Interpretation GuideIntegrate ultrasound anomalies and family history using the PhoRank algorithm to prioritize variants that match clinical observations in prenatal cases.
Rare Disease ApplicationExplore our technical resources on prenatal diagnostics and carrier screening workflows.
Join leading reproductive labs worldwide using Golden Helix to provide precise genetic answers and reproductive risk assessments for prospective parents.