Genomic Unity® Lightning Genome Analysis – Pediatric
Use
The Genomic Unity® Lightning Genome Analysis – Pediatric is a rapid diagnostic test designed for acutely ill patients aged 1 to 17 years within pediatric intensive care units (PICUs). The test identifies genetic variants that correlate with a patient's phenotype, providing a comprehensive report that integrates results from methods like whole exome sequencing, chromosomal microarrays, and more. It is particularly useful for time-sensitive cases where a genetic disorder is suspected but not clearly defined, offering insight into potential multiple conditions or atypical symptoms.
Special Instructions
Not provided.
Limitations
There are specific sensitivity metrics for variant detection: SNVs have >99.9% sensitivity and specificity, and structural variants have 96% clinical sensitivity. However, certain limitations exist: the false negative rate for mitochondrial large deletions and repeat expansions have not been determined, and heteroplasmy is not reported for large mitochondrial deletions.
Methodology
NGS (WGS)
Biomarkers
Result Turnaround Time
5-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5ml
Minimum Volume
Not provided
Collection Instructions
Blood sample collection as per standard procedures.