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East Genomics


A range of assays are used for testing adults and children for rare or inherited diseases.

In house assays

We carry out a range of assays within East GLH. These include:

Urgent (ultra rapid)

  • QF-PCR for rapid trisomy detection
  • PCR-based tests for prenatal diagnosis (PND)
  • Cystic Fibrosis carrier test (pregnancy) (CF EGB)
  • Cystic Fibrosis diagnostic test (newborn)

Urgent (rapid)

  • Microarray for prenatal / urgent postnatal (e.g. neonatal referrals)
  • Southern blot tests where the result is needed urgently for Pre-natal diagnosis
  • PCR-based tests for predictive testing
  • Confirmation of neonatal results (PCR based)
  • Carrier testing / familial variant testing required in context of pregnancy

Urgent (complex rapid)

  • Urgent panels, gene screens (treatment / antenatal)

Non urgent (standard)

  • Standard paediatric or fetal loss microarray
  • Postnatal karyotyping (e.g. fertility or familial microarray follow-up)
  • Standard single gene and small gene panel (<10 genes) sequencing
  • PCR based tests for diagnostic testing
  • Known familial variants testing including diagnostic confirmation, segregation analysis and carrier testing
  • Standard STR based analysis

Non urgent (complex standard)

Large gene-panels (10 or more genes) for standard referral indications

Turn around times for these tests are listed here.

Whole Exome Sequencing

Whole Exome Sequencing (WES) is a comprehensive genetic test that identifies changes in a patient's DNA that are causative or related to their medical concerns. It focuses on the entire protein-coding regions of the genome – the exome – offering coverage needed to diagnose patients rapidly and reliably.

If you require rapid whole exome sequencing for babies or children (test number R14), please find below a couple of videos which you may find useful:

Video - Why and how to test

Video - What to discuss with parents and how to take consent

These tests are carried out at Exeter Laboratory, part of the South West GLH. At this time, the test should be requested following a discussion with your local Clinical Genetics team; if deemed appropriate please contact the Exeter team prior to submitting a case for this test.

Further information, guidance and test forms

Contact details, the R14 request form and record of discussion form

Guidance document

Whole Genome Sequencing (WGS)

Please refer to our page on WGS.