The type of test method required depends on the type of change that causes the disorder.
- Sanger sequencing for hotspot analysis and single gene sequencing, with protocols established for more than 2,700 genes.
- Next generation sequencing (NGS) for single gene sequencing and NGS-based copy number variation (CNV) analysis for over 6,500 genes.
- Methylation assays to test for epigenetic disorders.
- Deletion/duplication testing to identify large deletions or duplications using MLPA (multiplex ligation-dependent probe amplification), qPCR (real-time polymerase chain reaction) or ddPCR (digital droplet polymerase chain reaction).
- Fragment length analysis (FLA) and/or repeat primed assays (RPA) to detect the extent of the repeat expansions using a capillary sequencer.
- Distinctive clinical features
- Family history of a specific disorder
- Single gene disorders
- Possible epigenetic disorder
- Possible Triple repeat disorders
- Family testing confirmation
Why Choose CENTOGENE?
Distinctive product offering centered around high-quality genetic testing
Strong presence in and access to countries with a high prevalence of rare diseases
CentoCard provides easy logistics for central testing
Rare disease-centric Bio/Databank generates best-in-class medical insights
Deep expertise in rare, metabolic, and neurodegenerative diseases, as well as multiomics enables better diagnostics