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
- Next generation sequencing (NGS) for single gene sequencing and NGS-based copy number variation (CNV) analysis
- Deletion/duplication testing to identify large deletions or duplications using MLPA (multiplex ligation-dependent probe amplification) or qPCR (real-time 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 targeted carrier testing
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
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
For our US Partners:
+1 (617) 580 - 2102
Mon. – Fri. 9 a.m. – 5:30 p.m. EST