Genomic Unity® Lightning 2.0 Genome Analysis – Standard
Test Description
This test is only available as an add-on to Genomic Unity® Lightning Genome Analysis.
Genomic Unity® Lightning 2.0 Genome Analysis – Standard is a whole genome based diagnostic test that identifies genetic variants that correlate with the patient’s phenotype.
Genomic Unity® Lightning 2.0 Genome Analysis – Standard combines short and long-read genome sequencing technologies in a single, unified clinical report that replaces a battery of tests including: whole genome sequencing (WGS), whole exome sequencing (WES), bisulfite (DNA methylation) sequencing, 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. Intrinsic variant confirmation is built in.
When to Order
Order this test for acutely ill individuals in the intensive care unit (ICU) in need of time-sensitive medical or surgical management 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 sequence analysis with heteroplasmy (≥5%) and large deletion analysis.
- Short tandem repeat (STR) analysis of the AFF2, AR, ARX, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, BEAN1, C9orf72, CACNA1A, CNBP, CSTB, DIP2B, DMPK, FGF14, FMR1, FOXL2, FXN, GIPC1, GLS, HOXA13, HTT, JPH3, LRP12, NOP56, NOTCH2NLC, PABPN1, PHOX2B, PPP2R2B, PRDM12, PRNP, RFC1, RILPL1, RUNX2, SAMD12, SOX3, TBP, TCF4, VWA1, ZFHX3, and ZIC2 genes. (Learn more).
- Methylation patterns associated with Angelman, Prader-Willi and Fragile X syndromes.
- Variant phasing.
- Intrinsic confirmatory validation.
Optionally includes:
- ACMG secondary findings.
- ACMG secondary findings with other actionable findings.
* Available for trio only.
Turnaround Time
If the add-on option is selected as part of the initial Genomic Unity® Lightning Genome Analysis order, a report will be issued within 10-15 additional days. Turnaround time begins when samples and all required documents are received.
Sample Types
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Blood5ml – Specimen requirements
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Parental blood (for trios)5ml – Specimen requirements
Methods and Limitations
Genomic Unity® Lightning 2.0 Analysis – Standard uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software. The genome is sequenced twice: once with short-read sequencing and once with long-read sequencing.
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.