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)
- 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:
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
Whole Genome Sequencing (WGS)
Please refer to our page on WGS.