Our endocrinology research team is working Genome Center to help quickly diagnose children with complex medical conditions such as hyperinsulinism and move them into appropriate treatment.
Using STAT-Seq, the Genome Center helped endocrinologists diagnose the specific type of hyperinsulinism affecting a critically ill newborn. In one weekend, the diagnosis was made and surgery targeting the specific genetics of the patient’s condition was
conducted. In the past, endocrinologists would have been limited to testing that only sequenced a handful of genes.
With STAT-Seq, tests are conducted in-house and results delivered in as few as 50 hours, making a major difference in the lives of patients and their families. The GUIDE (Gynecology/Genetics, Urology, Integrated, Developmental and Endocrine) Clinic, physicians are using TaGSCAN to diagnose Disorders of Sexual Development, guide treatment and provide relief to family members.