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. Home
  2. Diagnostics
  3. 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