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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.

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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
  • 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

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 targeted carrier testing 

Visit Our Online Ordering Portal

CentoPortal® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.

Order a Test

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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. – 6:30 p.m. CET
Sat. 8 a.m. – 12 p.m. CET

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For our US Partners:

+1 (617) 580 - 2102

Mon. – Fri. 9 a.m. – 5:30 p.m. EST

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