LR-WGS
LR-WGS is an advanced comprehensive test that simultaneously analyzes:
- Nucleotide variants in genes associated with or potentially linked to monogenic disorders (both
coding and non-coding regions, including difficult-to-sequence genomic regions or those with pseudogenes), which are otherwise identifiable through whole genome sequencing. - Nucleotide repeat expansions, such as those associated with Fragile X syndrome, Friedreich’s ataxia, myotonic dystrophy, and others, which are currently analyzed through dedicated techniques.
- Insertion of transposable elements within the genome.
- Genetic variants in mitochondrial DNA.
- Copy number variations (CNVs), which can alternatively be detected via molecular
karyotyping. - Balanced structural anomalies, which are typically identified through conventional
karyotyping. - Methylation status, which plays a crucial role in imprinting disorders.
Who does this test help?
This cutting-edge test is particularly recommended for patients with complex or atypical clinical
presentations of genetic disorders.
The analysis is performed in a trio-based approach, where the patient undergoes LR-WGS, while the parents are tested through whole exome sequencing (WES). The data is then analyzed using comparative algorithms, significantly increasing the detection rate of pathogenic genetic modifications.
