DIAGNOSTIC PANELS
Genome & Exome
Genome and Exome with Diagnostic Interpretation are the optimal tools for genetic diagnosis in patients with complex clinical manifestations with suspected genetic origin.
GENOME DX
- Whole genome sequencing with Ilumina platform NovaSeq 6000 and NovaSeq X Plus with an average depth of 30x (gold standard for genome sequencing)
- Analytic sensitivity is 99% for SNVs (Small Nucleotide Variants) and 97.6% for small insertions/deletions (<15 bp)
- Even though most of the disease-causing variants are found in the exome, the diagnostic genome performance is slightly higher since it includes unstudied regions in the exome (introns, intergenic regions), with a diagnostic performance that can achieve up to 40%
EXOME DX
- Whole exome sequencing with Ilumina platform NovaSeq 6000 and NovaSeq X Plus with an average depth of 100x, sequencing more than 99% of the genes of interest at ≥ 20x
- Optimized design that improves the coverage for a more homogeneous sequencing of the exome, covering over 19,300 genes
- Coverage for CNVs analysis included in commercial MLPA kits with single exon resolution
Variant analysis performed by a dedicated team of curators, experts on variant interpretation.
Option to additionally request the analysis of ACMG81 in patients over 18 years.
Duo and Trio analysis option available.
Knowing the cause of the disease
is the first step
Diagnostic panels are intended for patients with a suspected hereditary condition, they are direted for specific diseases.
“TGFBR1” “Ectodermal dysplasia””
