Genomic Unity® Lightning Genome Analysis
Genomic Unity® Lightning Genome Analysis is a rapid diagnostic test for acutely ill NICU patients designed to identify genetic variants that correlate with the patient’s phenotype.
- Test Description
- When to Order
- Included Analyses
- Turnaround Time
- Sample Types
- Methods and Limitations
Test Description
Genomic Unity® Lightning Genome Analysis is a comprehensive test that uses a whole genome platform to detect all major clinically relevant variant types from a single sample. It analyzes patient DNA jointly with parental DNA when family samples are included.
Genomic Unity® Lightning Genome Analysis provides a single, unified clinical report that replaces a battery of tests including: whole exome sequencing (WES), chromosomal microarray (CMA), multiplex ligation dependent probe amplification (MLPA), and single gene or targeted gene panel testing, as well as PCR and southern blot tests for short tandem repeat expansions.
When to Order
Order this test for acutely ill newborns in need of time-sensitive medical or surgical management, such as newborns in neonatal intensive care units (NICUs) 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 including: single nucleotide variants, deletions, insertions, intronic, regulatory, and intergenic variants.
- Genome-wide structural variant analysis including: copy number variants (CNVs), duplications/deletions, regions of homozygosity (ROH), uniparental disomy (UPD)*, mobile element insertions, inversions, and aneuploidy.
- Mitochondrial genome analysis including: single nucleotide variants, deletions and insertions with heteroplasmy (≥5%), and large deletions.
- Short tandem repeat (STR) analysis: 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 with other actionable findings.
- Genomic Unity® Pharmacogenomics Analysis.
Turnaround Time
A report will be issued within 5-7 days from receipt of required samples.
24/7 customer support can be reached via Lightning@variantyx.com and (tel) 1-508-834-3049, (fax) 1-508-302-0528.
Methods and Limitations
Genomic Unity® Lightning Genome Analysis uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software.
SNVs:
>99.9% sensitivity
>99.9% specificity
>99.8% positive predictive value
Structural variants:
96% clinical sensitivity
Mitochondrial variants:
Heteroplasmy is not reported for large deletions and duplications are not detected. The false negative rate for mitochondrial large deletions has not been determined.
Short tandem repeats:
The false negative rate for repeat expansions has not been determined.