Single Gene Testing

Information

CeGaT offers comprehensive laboratory diagnostics expertise, with more than 700 different single gene sequence analyses available. Furthermore, for many of these genes (> 350) we can also carry out further analysis using MLPA or quantitative PCR to detect deletions or duplications.

As more and more diseases are able to be diagnosed, we are constantly expanding the range of diagnostics we offer. We are happy to establish new analyses for you.

Order form
2nd sample for predictive genetic diagnosis
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Methods

Sanger Sequencing
Sanger sequencing is particularly useful for small-scale applications, such as single gene testing. After amplification of the DNA coding segments and adjacent regions via PCR, sequencing is performed using a 96-capillary 3730xl DNA Analyzer from Applied Biosystems.

Analysis of Deletions and Duplications
For the detection of deletions and duplications we use MLPA (www.mlpa.com) or quantitative PCR. Quantitative PCR is carried out on the Quant Studio 12K Flex Real-Time PCR System from Applied Biosystems.

Fragment Length Analysis
Another service we offer is fragment length analysis by capillary electrophoresis. This method is used for disorders such as triplet repeat diseases. The gene regions of interest are amplified by unique primers, and the number of triplet repeats can be determined by analyzing the fragment lengths of the resulting PCR products. Fragment length is determined using the 96-capillary 3730xl DNA Analyzer by Applied Biosystems.

Material and turnaround time

Material: 3-5 ml of EDTA-blood or 2 µg genomic DNA is required for analysis, however the analysis of other tissues is also possible. Please feel free to contact us by email at info@cegat.com or by phone at +49 7071 565 44 55.

Required documents:

  • Declaration of consent according to German Gendiagnostikgesetz (GenDG)
  • Order form
  • Payment agreement

Processing time: 2-4 weeks

Contact Us

Our dedicated support assists you in choosing most appropriate diagnostic test for your patients.

Gene Search

Our gene search option is currently under maintenace. We apologize for any inconvenience.

Of course, you can continue to order analyses of individual genes and individual gene sets. Please send us your request via contact form. We will contact you as soon as possible.