Single Genes

Many genetic diseases are caused by changes or variants in a single gene. We have a most comprehensive range of tests to cover your needs.


  1. Single Genes

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 Our Single Gene Testing?

Conclusive clinical results following international best-practice guidelines (ACMG and CMSS)

Recommendations for follow-up analyses for specific diseases

Clinical interpretation supported by CentoMD®

Quick turnaround time

Strictest quality criteria

Easy sample submission with CentoCard®

User-friendly, online ordering and tracking with CentoPortal®

Get in touch with our Partner Support

Our consultation service is available in several languages.

+49 (0) 381 - 80113 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