Genomic Unity® Pediatric Hematologic Disorders Analysis
Use
Genomic Unity® Pediatric Hematologic Disorders Analysis is a diagnostic test designed to identify genetic variants associated with hereditary hematologic cancers, bone marrow failure, and immunodeficiency disorders. It detects major clinically relevant variant types using a whole genome platform, targeting 140 genes involved in these conditions. This provides a comprehensive genetic evaluation replacing multiple tests, including targeted gene panel, single gene analysis, and MLPA.
Special Instructions
Not provided.
Limitations
Test performance is limited for certain genes, including non-unique regions of PMS2 (exons 13-15) which can impede variant localization. Additionally, CEBPA, DNAJC21, and RUNX1 genes are not fully covered, potentially missing variants in certain areas. The Boland inversion's performance characteristics are undetermined, potentially resulting in failure to detect.
Methodology
NGS (WGS)
Biomarkers
Result Turnaround Time
14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5ml
Minimum Volume
Not provided