Single Genes
Many genetic diseases are caused by changes or variants in a single gene. We offer a comprehensive range of tests for myriad single gene disorders.
Single Genes
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.
Single Gene Testing Is Recommended for Patients With
- 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
Get in Touch With Our Customer Support
Our consultation service is available in several languages.
+49 (0) 381 80 113 - 416
Mon. – Fri. 7 a.m. – 8 p.m. CEST
Sat. 8 a.m. – 12 p.m. CEST