Genetic Testing

The Growing Importance of Genetic Testing

Genetic tests have become much more available and much more sophisticated than was previously the case. Consequently, diseases previously unsuspected of having a genetic basis are now known to be genetically determined. This has led to a need for widespread implementation of genetic tests in almost all forms of medicine.

Identifying Appropriate Genetic Testing of Individuals

  • The tests which maybe appropriate to an individual patient vary from case to case. 

  • There are multiple different forms of genetic tests available to look at the 46 human chromosomes or at the approximately 20000 individual human genes, called gene loci. 

  • Identifying which of these tests is appropriate to an individual patient is a particular skill in our clinic.

Genetic Testing Approaches & Standards in Our Practice

Leading German Laboratory Partnership 

  • Tests in our clinic are undertaken in partnership with the leading German based laboratory Centogene.

Turnaround Times 

  • Turnaround times vary but are generally within a 6-8 week timeframe. 

  • In specific urgent cases, predictive and prenatal situations, we can arrange for more immediate reports.

Our Standards in the Interpretation of Test Results

The interpretation of the test results can be highly demanding and require specialist expertise. All our work in Interpretation of Test Results is based on the following best practice approaches. 

  • The specific rules which attend the interpretation of gene test reports and recommendations made by the American College of Medical Genetics and by the Association of Clinical Genomic Science 

  • Particular concerns relating to the use of genetic tests in children, to which we pay special heed 

  • Genomic sequencing indicates some considerable difficulties in the interpretation of incidental findings and our practices in this respect are respectful of and consistent with the advice of Robert Green and colleagues whose published findings in this matter bear the seal of the American College of Medical Genetics