Genomic Unity® Lightning Genome Analysis – Pediatric

RT020

Genomic Unity® Lightning Genome Analysis – Pediatric is a rapid diagnostic test for acutely ill PICU patients 1 to 17 years of age designed to identify genetic variants that correlate with the patient’s phenotype.

Test Description

Genomic Unity® Lightning Genome Analysis – Pediatric 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 – Pediatric 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.

Learn More About Rapid Testing With Variantyx

When to Order

Order this test for acutely ill children 1-17 years of age in need of time-sensitive medical or surgical management, such as children in pediatric intensive care units (PICUs) 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, GIPC1, GLS, HTT, NOTCH2NLC, PHOX2B, SOX3, VWA1, ZFHX3, and ZIC2 genes. (Learn more).

*Available for trio only.

Optionally includes:

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.

Sample Types

For trios:

Methods and Limitations

Genomic Unity® Lightning Genome Analysis – Pediatric 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.