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Results from tests requested through the GLH will usually be delivered by e-mail to a designated email address which you will need to include on the request form. It is preferable for us if you use an nhs.net account and you are advised to use a departmental, rather than an individual, account if possible.

Patient information is only secure when sent via email from one nhs.net account to another nhs.net account. As such, when sending laboratory reports across networks, the laboratory will use Proofpoint encryption. Service users will need to unlock the email on receipt. For help with this, please see our user guide here.

The laboratories aim to report all genomic tests within the NHS England genomic test reporting time guidelines. Please note that reporting times will vary depending on the test type and referral type.

The NHS England turnaround times for Rare Disease can be found below.

Clinical Urgency Category Subcategories Calendar Days Examples
URGENT Ultra Rapid N/A 3 days QF-PCR for rapid trisomy detection
URGENT N/A 5 days DPYD
URGENT Ultra Rapid NA 7 days NIPT
URGENT Rapid Rapid 14 days Microarray for prenatal / urgent postnatal (e.g. neonatal referrals)
Urgent Haemato-oncology karyotyping
Mutation specific molecular pathology tests
Southern blot tests where the result is needed urgently for prenatal diagnosis
PCR-based tests for predictive testing and confirmation of neonatal results
URGENT Complex Rapid Complex rapid 21 days Urgent panels and exomes for relevant indications
NIPD
Karyotyping or where cell culture is required for prenatal testing
NONURGENT Standard Somatic Cancer 21 days Standard HO karyotyping (e.g. MDS)
NGS panels for HO referrals
NGS panels for molecular pathology referrals
NONURGENT Standard Rare Disease 42 days (6 weeks) Standard paediatric microarray
Known familial mutation testing
Standard STR based analysis
Postnatal karyotyping (e.g. fertility or familial microarray follow-up)
Single gene sequencing or gene-panels (irrespective of number of targets/genes) or WES for standard referral indications
NONURGENT Complex Standard Rare Disease Cancer Part a) 42 days (6 weeks) Expectation for delivery of centralised WGS (from DNA sample receipt to data dispatched to decision support service ready for GLH analysis)
NONURGENT Complex Standard Rare Disease Cancer Part b) 42 days (6 weeks) Validation/reporting of centralised WGS results after receipt of data in the decision support service ready for GLH analysis. GLHs are expected to report performance in relation to this, Part B, section of the WGS pathway.
NONURGENT Research confirmation Rare Disease 84 days Confirmation and/or NHS clinical interpretation and reporting of research findings (e.g. Diagnostic Discovery)
R447 and R370 only