Expanding our understanding of skeletal dysplasia
Clinical case study shows how genomic data analysis has expanded our understanding of rare diseases of bone development.
Diagnosing CALFAN syndrome after years of uncertainty
How clinicians used Congenica to diagnose an exceptionally rare condition, providing a diagnosis for a child's medical issues after years of investigation.
Rapid diagnosis of Long QT syndrome protects family from major health risk
Congenica supports the rapid diagnosis of Long QT syndrome and enables consideration of potentially life-saving interventions for baby and mother.
Genomics in the Clinic & the Promise of Precision Medicine
At PMLS Precision Medicine and Rare Disease event, Congenica took part in a panel entitled 'Genomics in the Clinic and the Promise of Precision Medicine'.
Genomic sequencing in a prenatal setting - posters presented at ISPD
Two members of Congenica’s Clinical Interpretation Services team presented posters at the International Conference on Prenatal Diagnosis and Therapy (ISPD)
Exome analysis of cases with skeletal dysplasia
Andrea Haworth at Congenica presented a poster at Rady’s Frontiers in Pediatric Genomic Medicine event that looked at cases of skeletal dysplasia.
Automated variant classification workflows in a rare disease laboratory
Helen Savage presented a poster at Rady’s Frontiers in Pediatric Genomic Medicine highlighting the case for automating standardised analysis of cases.