Constitutional Genetics

woman in genetics lab

Head of Section – Kath Smith 0114 226 0743

The Constitutional team consists of 16 registered scientists who each specialise in specific genetic service areas. We offer specialist services for developmental disorders, reproductive genetics, connective tissue disorders, neurogenetic disorders, inborn errors of metabolism and haemostasis, haemoglobinopathies and haemochromatosis.

Our clinical scientists work closely with the referring clinicians and, in cases where known genetic rearrangements or mutations exist and family studies are required, with our Clinical Genetics team.

Diagnostic testing is available for a wide range of both common and rare genetic conditions affecting neonates, children and adults. Predictive and prenatal testing is also available for a number of conditions through our Clinical Genetics service.

We are continuously expanding our range of tests including introducing new, and updating our current, next generation sequencing panels. Please look at our A-Z List of Genetic Tests (PDF) for further information. If you cannot find the genetic test you are interested in, please contact us to discuss what we can offer. All discussion is welcomed!

Find out more about how to package and send samples to our labs. We accept referrals from the UK and abroad.


Developmental disorders
Connective tissue disorders
Haemostasis, haemoglobinopathy and haemochromatosis
Inborn errors of metabolism
Neurogenetic disorders
Reproductive genetics

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