Genomic and Molecular Medicine Service, Nottingham
For an update on the UKAS accreditation status of the Cytogenetic and Molecular Diagnostic sections of the service please see East Genomic Laboratory Hub - clinician updates | East Genomics.
The Genomic and Molecular Medicine Service forms part of the integrated ‘East Midlands and East of England Genomics Laboratory’ (EMEE) service.
The EMEE is responsible for delivery of the genomic tests defined in the new National Genomic Test Directories. The tests will be either delivered locally or via the EMEE laboratory hub at Addenbrooke’s Hospital, Cambridge. For current turnaround times please see table below.
For further details of the tests delivered locally, select the links below to go to the pages for the Cytogenetics, Molecular Genetics and Molecular Diagnostics sections of the laboratory.
East GLH and Nottingham University Hospitals NHS Trust comply with the Data Protection Act and the General Data Protection Regulation (GDPR) and take all possible care to maintain security and confidentiality of personal data.
When required by law or contractual obligation the laboratory will release confidential information. Any request to share patient information is managed and approved in accordance with NUH policies.
Further information on how patient data is maintained can be found here:
Data Requests & Your Privacy | NUH
Page last updated 10/04/2024. Please note that if printed, this information is only valid on the day of printing.
Cytogenetics
Tel: 0115 969 1169
Ext: 76617
Direct line: 0115 962 7617
Email: NUHNT.cytogenetics@nhs.net
Molecular Genetics
Tel: 0115 969 1169
Ext: 75207
Email: NUHNT.moleculargenetics@nhs.net
Molecular Diagnostics
Tel: 0115 969 1169
Ext: 77711
Email: nuhnt.molecular.diagnostics@nhs.net
Current turnaround times
JUNE 2024
|
Rare Disease Cytogenomics |
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|
Clinical Urgency |
Example Tests |
NHSE Target TAT (Days) |
Percentage within Standard |
Average TAT (Mean days) |
|
Urgent - Rapid |
Microarray / karyotypes for prenatal / urgent postnatal (e.g. neonatal referrals) |
14 |
71% |
12.6 |
|
Non-urgent - Standard |
Standard paediatric or fetal loss microarray |
42 |
95% |
44.8 |
|
Non-urgent - Standard |
Postnatal karyotyping (e.g. fertility or familial microarray follow-up) |
42 |
72% |
32.9 |
|
Rare Disease Molecular |
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|
Clinical Urgency |
Example Tests |
NHSE Target TAT (Days) |
Percentage within Standard |
Average TAT (Mean, Days) |
|
Urgent – Ultra Rapid |
QF-PCR for rapid trisomy detection |
3 |
70% |
2.7 |
|
Urgent – Ultra Rapid |
PCR based tests where the result is needed urgently for prenatal diagnosis |
3 |
50% |
4 |
|
Urgent – Rapid |
PCR based tests for predictive testing |
14 |
70% |
13.4 |
|
Non-Urgent – Standard |
Rare disease (Fragile X, PWS,AS) |
42 |
99% |
33.1 |
|
Non-Urgent – Standard |
Rare disease single gene screening, known familial variant testing & standard STR based analysis |
42 |
97% |
31.8 |
|
Non-Urgent – Standard |
Rare disease small panel testing (<10 genes) |
42 |
72% |
40.9 |
|
Non-Urgent – Complex standard |
Large gene panels (>10 genes), WES and WGS |
84 |
39% |
186.1 |
|
Haem-Onc Cytogenomics |
||||
|
Clinical Urgency |
Example Tests |
NHSE Target TAT (Days) |
Percentage within Standard |
Average TAT (Mean, Days) |
|
Urgent – Ultra Rapid |
Urgent haemato-oncology FISH (e.g. BCR/ABL1, PML/RARA) |
3 |
83% |
6.25 |
|
Urgent - Rapid |
Urgent haemato-oncology karyotyping/array/FISH |
14 |
96% |
9.4 |
|
Non-urgent - Standard |
Standard haemato-oncology karyotyping/array/FISH |
21 |
59% |
23 |
|
Haem-Onc Molecular |
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|
Clinical Urgency |
Example Tests |
NHSE Target TAT (Days) |
Percentage within Standard |
Average TAT (Mean, days) |
|
Urgent – Ultra Rapid |
AML(FLT3, NPM1) |
3 |
71% |
2.9 |
|
Urgent - Rapid |
AML(CBF, IDH) |
14 |
86% |
9.1 |
|
MPN(JAK2, CALR) |
14 |
7%* |
26.6 |
|
|
Urgent - Rapid |
Chimerism |
14 |
84% |
12.8 |
|
Diagnostic BCR::ABL1 |
14 |
95% |
8.9 |
|
|
BCR::ABL1 (Monitoring) |
14 |
12% |
17.9 |
|
|
* Please note, JAK2 service affected by assay downtime which has now been resolved. |
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Solid Cancer |
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|
Clinical Urgency |
Example Tests |
NHSE Target TAT (Days) |
Percentage within Standard |
Average TAT (Mean, Days) |
|
Urgent – Rapid |
FISH for solid cancers |
14 |
96% |
8.3 |
|
Urgent – Rapid |
BRAF |
14 |
100% |
2.2 |
|
Non-urgent Std |
NGS-targeted DNA |
21 |
99% |
12.6 |
|
Non-urgent Std |
NGS-targeted RNA |
21 |
99% |
12.8 |
|
Non-urgent Std |
FISH for solid cancers |
21 |
94% |
15.6 |
|
Non-urgent Std |
MSI testing & MLH1 promoter methylation |
42 |
0% |
64 |