Medical Genetic Tests are tests which affect your medical management.

Because the results of these tests might change your medical management, the test must be initiated by your doctor, with a request form for us to perform the test.

There are a wide range of medical genetic tests now available, in the areas of reproductive health, inherited disorders, cancer testing and medication processing, with more tests becoming available every year. Genetic testing is now commonly used by your GPs and specialists in the clinical practice of medicine. These tests can help to provide a more precise diagnosis, or might predict responses to treatment. Tailoring treatment to individuals based on the results of medical genetic tests is also known as precision medicine.

There are some medical genetic tests which are requested more frequently, particularly if you are pregnant or looking to start a family. This is where the experience and input from our doctors and scientists can be important in guiding you and your practitioner on your testing journey. Whatever the results are, there are clear options to discuss and consider, and recommended pathways to follow.

We have put together specific information and brochures for you, to help you to understand the tests and results more clearly. You can take this information to your doctor to discuss, ask questions, and arrange testing if you wish to proceed. Genetic testing is a complex field, your doctor is best placed to understand the full picture and provide you with appropriate advice.

Our Tests

Genomic Diagnostics perform a wide range of medical genetic tests of which the main ones are listed below.

  • Generation Non Invasive Prenatal Testing (NIPT)
    • Generation
    • Generation 46
    • Generation Plus
  • Genetic Carrier Screening
    • Core
    • Expanded
  • Infertility Investigations
  • Fragile X
  • Spinal Muscular Atrophy (SMA)
  • Cystic Fibrosis
  • Y chromosome microdeletion (DAZ deletion)
  • Tumour Molecular Testing
    • Metastatic Melanoma
    • Colorectal Cancer
    • Non Small Cell Lung cancer
  • Haematological Oncology
    • BCR-ABL
    • FLT3/NPM1
    • Jak2
    • Calreticulin
    • Thrombopoietin
    • Lymphocyte gene rearrangements
    • Microarray
  • Familial Cancer Testing
    • Hereditary Breast and Ovarian Cancer
  • Pharmacogenomic panels for
    • Mental Health medications
    • Pain medications
  • TPMT
  • Gilbert’s syndrome
  • Factor V
  • Haemochromatosis
  • MTHFR
  • HLA B27
  • Coeliac Disease
  • ApoE Genotyping
  • Alpha Thalassemia
  • Beta Thalassemia
  • Alpha-1 Antitrypsin

Leading the way to improved health

Our dedicated team are committed to ensuring the best quality
results in the shortest turnaround time.