In certain cases, specific clinical indications where whole genome sequencing (WGS) is available but results are needed urgently to inform care can be processed as non-WGS rapid whole exome sequencing tests. This must be approved in advance and uses a different process to WGS.
Semi-rapid testing is available in specific circumstances for four clinical indications:
- R15 Primary immunodeficiency or monogenic inflammatory bowel disease
- R98 Likely inborn error of metabolism
- R135 Paediatric or syndromic cardiomyopathy
- R257 Unexplained young onset end-stage renal disease
In place of whole genome sequencing using a trio of samples (proband and parents), semi-rapid testing requires only the proband sample and uses whole exome sequencing (WES).
Semi-rapid testing has an expected turn around time of six weeks and is available in cases where rapid diagnosis will guide immediate treatment or medical care.
Consult the national genomic test directory before ordering to ensure your patient is eligible for semi-rapid testing.
Process for ordering
- Semi-rapid tests are only provided by certain GMSs, use the information in the table below to contact the appropriate provider before ordering. Include cuh.geneticslaboratories@nhs.net to ensure we are aware of the approval.
- If approved, you can collect the sample and send to your local East Genomics laboratory (Cambridge, Nottingham or Leicester) using our non-WGS ordering process. We will then ensure the sample is passed on accordingly.
- Include “Semi Rapid Singleton WES” on the order form, as well as the clinical indication and all relevant clinical information.
- Include a copy of the approval email from the provider.
- A record of the consent discussion with the patient and /or family should be retained within the medical record.
Consider arranging for parental blood samples to be sent for DNA storage to enable future WGS trio testing if required.
|
Clinical Indication ID |
Semi-rapid test code |
Clinical Indication |
Lab providing testing |
Contact email for pre-approval of testing |
|---|---|---|---|---|
| R15 |
Semi-rapid test code R15.5 |
Clinical Indication Primary immunodeficiency or monogenic inflammatory bowel disease |
Lab providing testing North Thames GMS (Great Ormond Street) |
Contact email for pre-approval of testing gosh.geneticslab@nhs.net |
| R98 |
Semi-rapid test code R98.3 |
Clinical Indication Likely inborn error of metabolism |
Lab providing testing Central & South GMS (Birmingham) |
Contact email for pre-approval of testing bwc.metabolicgenomics@nhs.net |
| R135 |
Semi-rapid test code R135.3 |
Clinical Indication Paediatric or syndromic cardiomyopathy |
Lab providing testing South West GMS (Bristol) |
Contact email for pre-approval of testing nbn-tr.cardiacservice@nhs.net |
| R257 |
Semi-rapid test code R257.3 |
Clinical Indication Unexplained young onset end-stage renal disease |
Lab providing testing South West GMS (Bristol) |
Contact email for pre-approval of testing nbn-tr.swglhrenalservice@nhs.net |