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
Accepted Specimens
Proband
Blood – 1ml
Parents
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 Lightning@variantyx.com (tel) 1-508-834-3049, (fax) 1-508-302-0528
