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Custom NGS Assays

Service for custom NGS assay design and manufacturing
Assay Development Workflow
1
Assay design
-Gene list submission
-Custom clinical database creation
-Panel design
-In silico panel assessment
-Reporting
2
Protocol development
-Primers ordering
-Pilot run performance & assessment
3
Software Customization
- Pipelines configuration
- Manual variants annotation
- Workflow evaluation
4
Analytical validation
- Pilot run performance
- Analytica characteristics accessment
- Limitations determination
- Reporting
5
Clinical validation
- Optional clinical validation and certification

Assay Characteristics
Assay composition
Reagents kit
Targeted enrichment , library preparation, molecular barcoding
VariFind™ Software for
MPS data analysis & variants annotation
Highlights
Target regions + clinically significant hotspots
Ability to detect complex variants (CNVs & STRs)
Sample contamination control

Bioinformatician-free software included

Finished projects

NGS-based assay for testing of cystic fibrosis, phenylketonuria and galactosemia

NGS-based assay for detecting of clinically significant genetic variants associated with 19 severe genetic disorders

NGS-based assay for variants detection in 24 genes associated with different types of sugar intolerance

NGS-based assay for testing of clinically significant variants in CFTR gene associated with cystic fibrosis

NGS assay for 2nd tier newborn screening of inherited metabolic disorders

NNGS assay for 2nd tier newborn screening of inherited metabolic disorders

NGS-based assay for molecular-genetic investigation of pulmonary diseases and related conditions.

NGS-based assay for detecting of clinically significant genetic variants associated with 19 severe genetic disorders

Made on
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