What genetic testing options are available for confirming a diagnosis of Epidermolysis Bullosa, and how should I refer patients for these tests?

Genetic testing options for confirming a diagnosis of Epidermolysis Bullosa (EB) typically involve mutation analysis of genes known to be associated with EB, such as those encoding keratins, collagen, and other structural proteins of the skin. The specific genetic test should be selected based on the clinical subtype suspected and family history.

Referral process: Patients suspected of having EB should be referred to a specialist genetic service or a multidisciplinary team with expertise in inherited skin disorders for assessment and genetic counselling before testing. This ensures informed consent and discussion of the implications of the test results.

Testing should ideally start with an affected family member to identify the causative mutation, which can then guide predictive testing in relatives if appropriate.

Referral from primary care should be made to a specialist genetic clinic or centre that offers comprehensive genetic testing for rare inherited diseases, following the NHS National Genomic Test Directory guidelines.

Pre-test counselling is essential and should be conducted by healthcare professionals trained in genetics to explain the purpose, benefits, limitations, and possible outcomes of testing.

Overall, the process aligns with the NHS Genomic Medicine Service framework, ensuring patients receive tailored information and support throughout diagnosis and management.

Note: While the provided context does not include specific EB guidelines, these principles are consistent with UK genomic testing pathways for rare inherited diseases.