Newcastle Laboratories

Rare Diseases Service

The Rare Diseases Service performs and reports on a range of tests from simple PCR based assays to detect one specific mutation or a small set of mutations, right up to genome-scale sequencing.

Please see the link below to the Rare Diseases Genetics user guide summarising

  • Specimen requirements
  • Specimen transport
  • Testing information

Link to  Genetics user guide Рcurrently being reviewed

Link to NHSE test directory- Rare and inherited diseases