Advanced Genetic Testing
HUCF provides access to the latest and most comprehensive genetic tests for children in need.
Benefits of Cutting-Edge Genetic Tests
• Provides a more precise diagnosis
• Can enable personalized treatments
• Facilitates early and appropriate intervention
• Connects families with support and resources
• Often brings psychological relief
Types of Genetic Tests Supported by HUCF
• Whole Exome (WES) Test covers the protein-coding regions of approximately 19,000 to 20,000 genes where the majority of potential disease-causing genetic variants are found.
• Whole Genome (WGS) Test is one of the most comprehensive tests available and covers both protein-coding and non-coding regions. WGS tests can help diagnose some of the most complex rare disease conditions but it also can be more costly than other tests because of the large amount of data that is generated.
• Blended Whole Exome (BGE) Test combines a low-pass whole genome test with high-depth whole exome to create a cost-effective test that offers more comprehensive coverage than whole exome alone.
Genetic testing may be available to children in financial need at no cost, or at a reduced cost, depending on the genetic test requested and the specific situation of the family.
New Resolved Program: Offering Re- Analysis of Existing Genetic Sequencing Data
Too many times genetic tests are returned to patients and
their families without a definitive diagnosis. To address this critical need, HUCF is excited to launch a new service in partnership with Breakthrough Genomics to use their cutting-edge technology platform called Virtual Geneticist to re-analyze the underlying data from prior Whole Exome and Whole Genome Tests.
A recent study by clinicians at British Columbia Children’s
Hospital found that re-analysis with the Virtual Geneticist
Platform helped them solve an additional +10% of their
previously undiagnosed cases.
By applying new technology to existing genetic test data,
HUCF can help patients and families find answers from prior tests that returned uncertain test results. This means that with HUCF’s Resolved Program, a child in need gets a second chance to receive an accurate and up-to-date rare disease diagnosis.
