Turn-around times
The GLH aims 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.
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 Urgency | Category (mapping to test directory) | Sub-category | Calendar Days | Examples |
|---|---|---|---|---|
| Urgent | Ultra Rapid | N/A | 3 days | MAKELIST QF-PCR for rapid trisomy detection Urgent haemato-oncology FISH/RT-PC PCR-based tests where the result is needed urgently for prenatal diagnosis |
| Urgent | Ultra Rapid | N/A | 7 days | NIPT |
| Urgent | Rapid | Rapid | 14 days | MAKELIST 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-Urgent | Rapid | Complex rapid | 21 days | MAKE LIST Urgent panels and exomes for relevant indications excluding WGS-related test codes NIPD |
| Non-Urgent | Standard | Somatic Cancer | 21 days | MAKE LIST Standard HO karyotyping NGS panels for HO referrals NGS panels for molecular pathology referrals |
| Non-Urgent | Standard | Rare Disease | 42 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-Urgent | Complex Standard | Rare Disease | 84 days (12 weeks) | MAKE LIST Large gene-panels (>10 genes) or WES for standard referral in dications |
| Non-Urgent | Complex Standard | Rare Disease | Part 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-Urgent | Complex Standard | Rare Disease | Part 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:
Urgent
| Clinical Indication/ Test | NHSE Target Turnaround Time (calendar days) | Average Turnaround Time (September 2024) |
|---|---|---|
| Prenatal / Neonatal Microarray | 14 | 14 days |
| Prenatal / Neonatal Karyotype | 14 | 14 days |
| Aminoglycoside exposure posing risk to hearing | 14 | 9 days |
| Cancer Predictive Test | 14 | 14-21 days |
| Fetal Exome Service (R21) | 21 | 14-21 days |
| Non-Invasive Prenatal Diagnosis (NIPD) | 21 | 14-21 days |
Routine
| Clinical Indication/ Test | NHSE Target Turnaround Time (calendar days) | Average Turnaround Time (September 2024) |
|---|---|---|
| Analysis of fetal tissue/products of conception | 42 | 6-8 weeks |
| Postnatal karyotype | 42 | 5-6 months |
| Postnatal Microarray | 42 | 5-6 months |
| Familial Hypercholesterolaemia Screen | 42 | 2-3 months |
| Inherited Cancer Predisposition Screen (Breast, Ovarian, Colorectal) | 42 | 6-8 weeks |
| Fragile X | 42 | 4-6 weeks |
| Cystic Fibrosis | 42 | 2-4 weeks |
| Whole Genome Sequencing | 42 | 9-12 months |
| Specialist NGS Panel | 84 | 4-6 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.
| R39 | Albinism or congenital nystagmus |
| R41 | Optic neuropathy |
| R46 | Congenital fibrosis of the extraocular muscles |
| R67 | Monogenic hearing loss |
| R107 | Bardet Biedl syndrome |
| R163 | Ectodermal dysplasia |
| R165 | Ichthyosis and erythrokeratoderma |
| R166 | Palmoplantar keratodermas |
| R194 | Haematuria |
| R195 | Proteinuric renal disease |
| R198 | Renal tubulopathies |
| R230 | Multiple monogenic benign skin tumours |
| R236 | Pigmentary skin disorders |
| R237 | Cutaneous photosensitivity with a likely genetic cause |
| R256 | Nephrocalcinosis or nephrolithiasis |
| R262 | Corneal dystrophy |
| R326 | Vascular skin disorders |
| R332 | Rare genetic inflammatory skin disorders |
| R424 | Subcutaneous 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