Molecular Genetic Testing

Indication and Diagnostic Value

The Silver-Russell-Syndrome is associated with clinical symptoms like for instance growth retardation or indications of dimorphisms accompanied by lateral asymmetry. The underlying genetic basis is rather heterogeneous. About 10% of all cases can be traced back to a maternal uniparental disomy on chromosome 7 (UPD7). Therefore, for the purpose of differential diagnosis with regard to inborn manifestations of growth retardation, a chromosome analysis coupled with a UPD7 – test is strongly recommended.

Samples and Test Method

This test requires 0.5-3.0ml of EDTA blood. Samples should arrive at our laboratory within 48hrs after blood collection. Blood stain paper can not be used! The test consist of a comparison between the chromosome 7 of both parents with that of the child. To this end, highly polymorphic markers (STRs) are used to amplify the respective chromosomal regions for subsequent analysis on a 310 DNA sequencer.
Please take into consideration that we need blood samples from the child and from both parents.

Turnaround time for this test is 2 weeks.

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