Short-Read Sequencing

Xromate™
Copy Number Variation Sequencing (CNV-seq)

Cost-Effective, High-Throughput, Scalable IVD Solution

CNV anaylsis with NGS

Designed for first-tier prenatal diagnostics, miscarriage analysis and molecular diagnosis, Xromate™ CNV-seq utilize genome-wide NGS to analyze copy number variations (CNVs) with greater flexibility and sensitivity than routine methods. Comparing with to chromosomal microarray analysis (CMA), it is more preferred for amniotic fluid samples with low gDNA and improves the detection yield of low-level mosaicism¹⁻².

Since 2014, Xromate™ has processed over 300,000 cases, with dozens of leading medical institutions implementing the system in their laboratories.

EZ-GALO - Rapid PCR-free Library

Xromate™ features the proprietary EZ-GALO experimental procedure, designed to minimize hands-on time and maximize data integrity.

3-Hour workflow: Complete library preparation rapidly
Streamlined: The protocol eliminates solution transfers, significantly reducing the risk of human error and cross-contamination
PCR-free for accuracy: By removing the amplification step, we avoid amplification bias. This ensures minimal data redundancy, exceptional reproducibility, and a clear differentiation between negative and positive results, effectively eliminating the reporting "grey zone"

CNVisi: Integrated Analysis & Reporting

CNVisi (Copy Number Variation Integrated System of Interpretation) is an all-in-one bioinformatics software for QC, analysis, CNVs annotation/interpretation, and report generation in as little as 1 hour. It integrates insights from 20+ public databases plus our internal CNVs dataset from millions of individuals to deliver comprehensive, evidence-based interpretation. Designed as a virtual assistant, it can reduce manual reporting effort by >90%.

99.6% classification accuracy³: Automatically classifies CNVs pathogenicity with high precision
AI-assisted reporting: Trained on 200,000+ CNV reports, CNVisi helps draft report language to further cut manual writing time

When considering our send-out sequencing services:

Contact our team for the most up-to-date test details.
Check sample and shipment requirements before sending out to guarantee result quality. Also verify export requirements and your logistics partner.
Contact Xcelom when placing any order along with a completed Test Request and Consent Form, any required QC data and other required document.

Sample Requirements

Peripheral Blood: 2 mL in EDTA tube

Dried Blood Spot (DBS): 3 spots, ≥ 8mm diameter each

gDNA

**For prenatal cases, please include maternal sample for STR to exclude maternal contamination.

Transport Conditions

2-8℃, arrive within 72 hours

Testing Scope

Proband, Duo, or Trio analysis for affected patient, products of conception (POC), or prenatal samples. Add-on UPD analysis (10 disorders) for prenatal cases with PCR-CE methods.

Standard reporting:

Pathogenic (P)/ Likely Pathogenic (LP): ≥100 kb
Variant of Uncertain Significance (VUS): ≥100 kb (patient/POC); ≥1 Mb (prenatal)
Benign (B) / Likely Benign (LB): ≥300 kb

Turnaround Time

14 working days

Xcelom Limited and Berry Genomics provide an end-to-end turnkey solution for labs wishing to conduct this test in-house.

Laboratory Setup: Full consultation
Workflow Integration: SOPs, IVD/RUO reagents, and staff training
Bioinformatics: Complete IVD/RUO software suite for sample management and automated report generation

Platform

illumina or Salus SBS sequencing system

Sample Type

gDNA from blood, CVS, amniotic fluid, cord blood/tissue, product of conception, etc.

Automation

Supported

Coverage

Genetic disorders caused by chromosomal aneuploidies and CNVs larger than 100 kb in size with mosaicism

Resources

Brochure

References:

1. Ma N, Xi H, Chen J, et al. Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism. BMC Med Genomics. 2021;14(1):56.

2. Wang H, Dong Z, Zhang R, et al. Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis. Genet Med. 2020;22(3):500-510.

3. Chen S, Liu C, Luan X, et al. Application and clinical utility assessment of natural language processing-based software for copy-number variants interpretation. J Transl Med. 2025;23(1):1052.