Turn-around times

The GLH aims to report all genomic tests within the NHS England genomic test reporting time guidelines.

Turn-around times

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Please note that reporting times will vary depending on the test type and referral type.

It is essential that the correct and complete referral information is sent so that testing can be appropriately prioritised. Please use our “Request a Test” tool for information on specific tests, or view the national genomic test directories.

The national guideline turnaround times for different types of test are listed in the table below.

Clinical UrgencyCategory (mapping to test directory)Sub-categoryCalendar DaysExamples
UrgentUltra RapidN/A3 daysMAKELIST
QF-PCR for rapid trisomy detection
Urgent haemato-oncology FISH/RT-PC
PCR-based tests where the result is needed urgently for prenatal diagnosis
UrgentUltra RapidN/A7 daysNIPT
UrgentRapidRapid14 daysMAKELIST
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
Non-UrgentRapidComplex rapid21 daysMAKE LIST
Urgent panels and exomes for relevant indications excluding WGS-related test codes
Non-UrgentStandardSomatic Cancer21 daysMAKE LIST
Standard HO karyotyping
NGS panels for HO referrals
NGS panels for molecular pathology referrals
Non-UrgentStandardRare Disease42 days (6 weeks)MAKE LIST
Standard paediatric microarray
Standard single gene and small gene panel (<10 gene) sequencing
Known familial mutation testing
Standard STR based analysis
Postnatal karyotyping (e.g. fertility or familial microarray follow-up
Non-UrgentComplex StandardRare Disease84 days (12 weeks)MAKE LIST
Large gene-panels (>10 genes) or WES for standard referral in dications
Non-UrgentComplex StandardRare DiseasePart a) 32 days (6 weeks)MAKE LIST
Expectation for delivery of centralised WGS (from DNA sample receipt to return of vcf and/or filtered variants to GLH)
Non-UrgentComplex StandardRare DiseasePart b) 42 days (6 weeks)MAKE LIST
Validation/reporting of centralised WGS results after receipt at GLH

North Thames GLH Rare Disease Turnaround Times

The GLH Laboratories aim to report all results in accordance with NHSE guidance turnaround times. The impact of Covid and ongoing genomics transformation programmes are currently resulting in extended reporting times. Current average reporting times for some frequently requested rare disease genomics tests are provided below to enable clinicians to advise patients accordingly.

Please contact the laboratory to expedite testing if a request becomes clinically urgent. For routine samples testing is carried out in the order they are received into the laboratory.

Please note that average reporting times calculated from the time at which all samples and clinical information have been received by the laboratory and the date the report is available to the referring clinician.


Great Ormond Street Hospital Rare Disease Laboratory:


Clinical Indication/ TestNHSE Target Turnaround Time (calendar days)Average Turnaround Time (December 2023)
Prenatal / Neonatal Microarray1414 days
Prenatal / Neonatal Karyotype1414 days
Aminoglycoside exposure posing risk to hearing149 days
Cancer Predictive Test1414-21 days
Fetal Exome Service (R21)2114-21 days
Non-Invasive Prenatal Diagnosis (NIPD)2114-21 days


Clinical Indication/ TestNHSE Target Turnaround Time (calendar days)Average Turnaround Time (December 2023)
Analysis of fetal tissue/products of conception426-8 weeks
Postnatal karyotype425-6 months
Postnatal Microarray425-6 months
Familial Hypercholesterolaemia Screen422-3 months
Inherited Cancer Predisposition Screen (Breast, Ovarian, Colorectal)426-8 weeks
Fragile X424-6 weeks
Cystic Fibrosis422-4 weeks
Whole Genome Sequencing429-12 months
Specialist NGS Panel 844-6 months

Backlog clearance

We have been looking at ways to reduce our backlog of Specialist NGS tests and one of the initiatives we are implementing is outsourcing some specific clinical indications to Medicover in Germany. Medicover is an ISO15189:2012 accredited laboratory – Genetic testing for Cancer, Rare diseases & Reproductive health | Medicover Genetics (medicover-genetics.com).

This will be for the following clinical indications only.

R39Albinism or congenital nystagmus
R41Optic neuropathy
R46Congenital fibrosis of the extraocular muscles
R67Monogenic hearing loss
R107Bardet Biedl syndrome
R163Ectodermal dysplasia
R165Ichthyosis and erythrokeratoderma
R166Palmoplantar keratodermas
R195Proteinuric renal disease
R198Renal tubulopathies
R230Multiple monogenic benign skin tumours
R236Pigmentary skin disorders
R237Cutaneous photosensitivity with a likely genetic cause
R256Nephrocalcinosis or nephrolithiasis
R262Corneal dystrophy
R326Vascular skin disorders
R332Rare genetic inflammatory skin disorders
R424Subcutaneous panniculitis T-cell lymphoma (SPTCL)

Newly received samples are being exported; where testing has already started in house this will be completed by us. Reporting will not therefore be in the order samples are received while we work to clear the backlogs for testing.

Please continue to send requests for these indications to us at the usual address as per the test directory routing. We will forward samples to Medicover and then forward the final report to you once it is received. The expected turnaround time (from receipt of sample at Medicover to report being issued) is 42 days.

If you have any enquiries please contact the laboratory on gos-tr.norththamesgenomics@nhs.net

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