Single Gene and Segregation Analysis

For the focused analysis of single genes or familial variants

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.

Are you insured in Germany? Our colleagues at the Zentrum für Humangenetik Tübingen will gladly support you!

What We Offer with the Single Gene and Segregation Analysis

Extensive
Diagnostics

> 700 different single gene sequence analyses

Deletions & Duplications

Using MLPA or quantitative PCR in > 350 genes

High
Flexibility

We are happy to establish new examinations for you

Comprehensive Medical Report

Created by our interdisciplinary team of experts

Our Promise to You

Fast Turnaround Time

Less than four weeks after sample receipt

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Safety

Highest confidentiality and quality standards

Reliability

Reliable support throughout all steps

Comprehensibility

Clearly prepared medical report

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 or quantitative PCR. For MLPAs, the kits from MRC HOLLAND are used. 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.

Sample Report

General Information

Material

  • 1-2 ml EDTA blood (recommended sample type) or
  • 1-2 µg genomic DNA
  • Analysis of other tissues is also possible
  • Order Form with declaration of consent
  • Payment agreement

Here you can find more information on how to ship your sample safely.

Turnaround Time

  • Turnaround Time: less than four weeks

Costs

For Single Gene Testing the costs are dependent on the size or the number of exons of the gene. All prices include sequencing, bioinformatic analysis, and issuing of a medical report by our team of experts in human genetic diagnostics.

Diagnostic Process

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Counseling & Test Selection

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Sampling & Shipment

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Sample Analysis

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Medical Report & Counseling