LR-WGS

  • Nucleotide variants of genes associated with, or candidate to be associated with, monogenic disorders (coding and non-coding regions, including difficult genomic regions or those with pseudogenes), alternatively identifiable through whole-genome sequencing.
  • Repetitive nucleotide expansions, such as those associated with Fragile X syndrome, Friedreich ataxia, myotonic dystrophy, and others, currently analyzed using dedicated techniques.
  • Insertion of transposable elements
  • Gene variants in mitochondrial DNA
  • Copy number variations (CNVs), alternatively detectable through molecular karyotyping.
  • Balanced structural abnormalities identified by conventional karyotyping.
  • Methylation status, involved in imprinting disorders.

LR-WGS is a new comprehensive test that simultaneously analyzes:

Who does this test help?

This latest-generation test is indicated for patients with genetic disorders presenting a complex or atypical clinical picture.

The analysis is performed in a trio approach: the patient is investigated using LR-WGS, the parents through whole-exome sequencing (WES), and the data are analyzed using comparative algorithms, thereby leading to an increased detection rate of pathogenic alterations.

For any questions :

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+40 21 233 13 56

cytogenomic@cytogenomic.ro