Detects genome-wide numerical abnormalities and whole-chromosome gains/losses.
Detects deletions and duplications down to ~50 kb across all autosomes & sex chromosomes.
Detects chromosomal rearrangements that do not result in a net gain or loss of genetic material.
Identifies mosaic CNVs and low-level numerical alterations at moderate fractions (> 10%).
Detects Loss of Heterozygosity (LOH) and Regions of Homozygosity for UPD & consanguinity.
| Array CGH | SNP Array | OGM | KaryoSolver | |
|---|---|---|---|---|
| Core Mechanism | Dual-color hybridization | Allele-specific hybridization | Direct imaging of UHMW | Low-Pass WGS |
| DNA Input Required | High (>500 ng) | Medium (>100 ng) | High (~750 ng) | Ultra-low (≥ 50 ng) |
| Sample Flexibility | Blood, Amniotic Fluid, CVS | High-quality DNA | UHMW DNA | Blood, Amniotic fluid, CVS, WGA |
| CNV Resolution | ~100 - 200 kb | ~50 - 100 kb | ~100 - 200 kb | ~50 kb |
| LOH / UPD Detection | No | Yes | Limited | Yes |
| Structural Variant Detection | No balanced SVs | No balanced SVs | Yes | Yes |
| Clinical Application | Typical Indication | CNV Scale |
|---|---|---|
| PGT (A/SR) | Embryo screening | Whole-chr & large segmental |
| Prenatal (Large) | Abnormal ultrasound, positive NIPT | Whole-chr & large CNVs |
| Prenatal (Recurrent) | Syndromic fetal anomalies | Recurrent CNVs |
| Postnatal (Standard) | DD, ID, ASD, ADHD, Epilepsy | Pathogenic CNVs |
| Postnatal (Congenital) | CHD, syndromic phenotype | Large syndromic CNVs |
| Cancer (Large) | MDS, AML, MPN | CNVs and aneuploidies |
| Cancer (Recurrent) | Known risk regions | Recurrent deletions |
NGS library preparation in less than 2 hours of hands-on time.
Features 100% lyophilized reagents for maximum stability without cold-chain constraints.
Secure on-premise software for BAM file preprocessing.
Guarantees complete clinical sample anonymization and strict compliance with global data privacy standards.
Automated CNV/ROH segmentation.
Integrated with ClinGen/ACMG databases to generate standardized, ISCN-compliant diagnostic reports.
| Resolution | Detection capability | Samples/ Promethion | Samples/ MiniON |
|---|---|---|---|
| ~ 5Mb | Large CNVs | > 96 samples | 72 samples |
| ~ 1Mb | CNVs | 96 samples | 16 samples |
| ~ 500kb | CNVs | 72 samples | 12 samples |
| ~ 200kb | High-resolution CNVs | 48 samples | 8 samples |
| ~ 100kb | High-resolution CNVs | 24 samples | 4 samples |
| ~ 50kb | Ultra-high-resolution CNVs | 16 samples | 2 samples |
| ROH | LOH, UPD | 16 samples | 2 samples |
| Balanced SVs | Balanced structural variants | 4 samples | - |
KaryoSolver highlights the pathogenic 4p deletion directly in the CNV profile and links the finding to genomic coordinates and annotation. The visual pattern makes the clinically relevant imbalance easy to recognize and supports a rapid interpretation consistent with Wolf–Hirschhorn syndrome.
Example shown: a large ROH on chromosome 2 can be immediately visualized, quantified and reviewed in the appropriate clinical context.
KaryoSolver detects extended regions of homozygosity (ROH) across the genome. Their size, distribution and chromosome specificity help the laboratory decide whether the pattern is more suggestive of parental relatedness or whether a chromosome-specific event should be evaluated for possible uniparental disomy.
Identify long homozygous segments from SNP information.
Assess whether ROH are distributed across multiple chromosomes or concentrated on one chromosome.
Use the pattern to guide follow-up for consanguinity, UPD or recessive-disease investigation.
Visualize multiple CNVs and their cellular fractions in a single genomic profile, providing an immediate view of the complex and heterogeneous copy-number landscape of multiple myeloma. Example: multiple mosaic gains and losses occurring at different cellular fractions, highlighting the presence of clonal and subclonal genomic alterations.
Identify complex genomic rearrangements, including balanced translocations, and gain a comprehensive view of structural alterations in onco-hematological samples.
Example:
Circos plot revealing multiple chromosomal rearrangements and balanced translocations
KaryoSolver transforms array and NGS data into clinically meaningful insights, supporting the detection and interpretation of CNVs, ROH and complex genomic rearrangements in a single, intuitive workflow.
Interested in learning more?
Contact our experts for further information or to request a personalized demo of KaryoSolver: 
