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.
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.
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