Rare disease

Our rare disease testing portfolio includes more than 80 genetic disorders. The range of testing encompasses inherited neurological and neuromuscular disorders, inherited cardiac disorders, liver and metabolic disorders and other paediatric and adult onset genetic diseases.

The implementation of next-generation sequencing has enabled the provision of genetic testing for a number of complex, heterogeneous disorders and we currently provide targeted gene panel testing for hypertophic and dilated cardiomyopathy, arrhythmia, aortopathy, inherited peripheral neuropathy, alports disease, white matter disease and cholestasis and liver disease.

We have a long-standing interest in imprinting disorders and offer methylation and UPD analysis for Beckwith-Wiedemann syndrome and Russell-Silver syndrome.

Working closely with colleagues within the Clinical Genetics Unit and the University of Birmingham we have established genetic testing services for a number of rare autosomal recessive genetic conditions, testing for 21 rare recessive (mainly biochemical) disorders.

For a complete list of tests available please refer to the laboratory’s test directory.

For diseases where testing is not available in our laboratory, we offer a sample export service. When diagnostic testing is not available, in collaboration with the referring clinician and clinical geneticists we can offer bespoke genetic testing using next-generation sequencing technologies and clinical exome analysis.

We have close collaboration with the University of Birmingham for developing new genetic testing and we also offer confirmation of research results in diagnostic setting. For more information please contact the laboratory.

For sample requirements and reporting times please see the test directory.