Genomic Unity® Lightning Genome Analysis

Test Code – RT001

Test Requisition Form

Data Sheet

The diagnostic odyssey for unexplained genetic disorders is a frustrating and costly process for patients and their families. Potentially unnecessary delays in identifying the molecular cause of a child’s symptoms may result in missed opportunities for changes in treatment, especially in time-sensitive NICU and PICU environments.

Genomic Unity® Lightning Genome Analysis takes full advantage of the Genomic Unity® single platform method, providing a comprehensive analysis, driven by a child’s clinical features, of the entire genome and all clinically relevant variant types.

This is a trio-based test that analyzes patient DNA jointly with parental DNA.

When to order

Order this test for acutely ill patients in need of time-sensitive medical or surgical management, such as newborns or young children in intensive care units with a suspected genetic disorder. This test is most appropriate when clinical symptoms may be caused by a variety of genes or genetic mechanisms, are suggestive of multiple conditions, or are atypical for a certain condition.

Included Analyses

  • Genome-wide sequence analysis (single nucleotide variants, deletions/insertions, intronic, regulatory, and intergenic variants)
  • Genome-wide structural variant analysis (copy number variants, duplications/deletions, regions of homozygosity, uniparental disomy*, mobile element insertions, inversions, and aneuploidy)
  • Mitochondrial genome sequence analysis with heteroplasmy (≥5%) and large deletion analysis
  • Short tandem repeat (STR) analysis of the AFF2, AR, ATN1, ATXN2, ATXN3, ATXN7, ATXN10, CSTB, DIP2B, DMPK, FMR1, FOXL2, FXN, GLS, HTT, NOTCH2NLC, PHOX2B, SOX3, and ZIC2 genes. (Learn more)

*Available for trio only.

Optionally includes:

  • ACMG Secondary Findings
  • ACMG secondary findings and incidental findings.
  • Genomic Unity® Pharmacogenomics Analysis. 

Test Performance

Sensitivity for SNVs
 >  %
Specificity for SNVs
Positive predictive value for SNVs
Clinical sensitivity for structural variants

Accepted Specimens


Blood – 1ml


Blood – 5ml

Turnaround Time

A report will be issued within 5 days from receipt of required samples.

24/7 customer support can be reached via (tel) 1-508-834-3049, (fax) 1-508-302-0528

Contact Us

Please contact customer service to request a kit.

Learn More