Genomic Unity® Lightning Genome Analysis – Neonatal
Use
Genomic Unity® Lightning Genome Analysis – Neonatal is a rapid diagnostic test for acutely ill NICU patients 12 months of age or less. It is designed to identify genetic variants that correlate with the patient’s phenotype, enabling time-sensitive medical or surgical management decisions for newborns in neonatal intensive care units (NICUs) with suspected genetic disorders.
Special Instructions
Not provided.
Limitations
The false negative rate for mitochondrial large deletions has not been determined. Duplications are not detected for mitochondrial variants. Heteroplasmy is not reported for large deletions. The sensitivity for detecting structural variants is specified as 96%. The false negative rate for repeat expansions in short tandem repeats is also not determined.
Methodology
NGS
Biomarkers
Result Turnaround Time
5-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
1ml
Minimum Volume
Not provided