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, DIP2B, AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, C9ORF72, CACNA1A, CNBP, CSTB, DMPK, FMR1, FXN, HTT, JPH3, NOP56, NOTCH2NLC, PABPN1, PPP2R2B, TBP, PHOX2B and TCF4 genes. (Learn more)
Optionally includes:
- ACMG Secondary Findings
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
