Genetic Test Interpretation for Complex and Blended Phenotypes

We Provide Physician-supervised Interpretation of Whole Exome or Whole Genome Sequencing Data, Including:

• Clinical Genomic Differential Diagnosis®
  
  We integrate genomic findings with the patient’s clinical history to generate a prioritized list of possible genetic explanations for the overall clinical presentation.
• Physician-Reviewed DNA Data Interpretation
  
  We go beyond a variant list by evaluating whether the genetic findings actually explain the patient’s symptoms and whether additional findings may be clinically relevant.
• Recommendations for Confirmatory Tests
  
  We identify follow-up laboratory tests, imaging studies, genetic tests, or other evaluations that may help confirm or clarify the suspected diagnosis.
• Recommendations for Specialist Referrals and Follow-up
  
  We suggest appropriate specialist referrals and practical next steps based on the patient’s symptoms, genomic findings, and unresolved clinical questions.

For Clinicians

We help clinicians interpret complex genomic data in patients who remain undiagnosed after standard evaluation. Our reports prioritize candidate diagnoses, link genomic findings to the clinical history, identify confirmatory tests and referrals, and include a pharmacogenomic medication-risk report.

For Patients

For patients with unexplained neurological, developmental, psychiatric or multisystem symptoms, we provide physician-supervised genomic interpretation that converts sequencing data and clinical history into a prioritized genomic differential diagnosis, pharmacogenomic report, and practical next-step plan for discussion with the treating clinician.

• Extended Pharmacogenetics Report
  
  Our pharmacogenetic report evaluates how genetic findings may affect medication efficacy, toxicity, dosing, tolerability, adverse-effect risk, and medication selection. The analysis uses established pharmacogenetic resources such as ClinPGx, proprietary interpretation methods, and MEDpicker®, a practical medication decision-support interface designed to help present drug-gene effects in a clinically usable format.

• Technology Overview - Clinician-guided WES/WGS Results Interpretation with Structured AI Support
  
  Our workflow supports whole exome sequencing, whole genome sequencing, trio interpretation, and copy-number variant review when available. Clinical history is combined with genomic findings, curated databases, proprietary algorithms, and structured AI support to generate a physician-reviewed Genomic Differential Diagnosis® rather than a variant list alone. CLIA-based sequencing or confirmatory testing may be arranged upon request when clinically necessary and available through an appropriate laboratory pathway.