Relocation of the All Wales Medical Genomics Service Laboratory
A New Era for Genomic Medicine in Wales
Welsh healthcare has been undergoing an exciting transformation and in November 2023 All Wales Medical Genomics Service (AWMGS) began its transition to the new state-of-the-art facility at Cardiff Edge Life Science Park, Canolfan Iechyd Genomig Cymru (CIGC)/Wales Genomics Health Centre in Coryton, Cardiff.
This co-location of AWMGS with Pathogen Genomics Unit (PenGu) in Public Health Wales and Wales Gene Park aims to create a cutting-edge genomics facility at the forefront of innovation and collaboration in genomics. Thus, supporting the transformation of Welsh healthcare, by streamlining the clinical and laboratory testing, pathogen monitoring and genomics research, all to patient benefit.
Next steps
As of November 2023, CIGC became the working hub for PenGu and AWMGS’s Clinical Services and Directorate Management teams. AWMGS Laboratory services (AWGL) relocation to CIGC is the next exciting phase in integrating Welsh Genomic services and is due to begin on 8th November 2024. Due to the complex nature of the relocation of AWGL there will unfortunately be some disruption to our services/provision over the coming weeks. We have developed a robust relocation plan and have approached this with a risk-assessed focus and decision process centred on patient impact. This is to ensure, where possible, there will continue to be testing provision for clinical services.
As of the 16th December 2024, AWGL will have vacated The Institute of Medical Genetics building at University Hospital Wales, and staff will no longer be present to receive samples.
For further details on updates to sample transport to CIGC please click here
If you are a referring department from UHW, for further details on sample transport between UHW & CIGC please click here
Genetic Testing information
The tables below contain information pertaining to the delay or disruption that will affect services during the AWMGS laboratory relocation to CIGC as we activate service provision contingencies. This will provide information on the date of commencement of contingency, the nature of the contingency, the estimated length of disruption, and if there are any anticipated extensions to reporting times. This information will be updated on a regular basis and communication will be distributed once a services contingency is stood down and the testing provision has resumed normal service in our new facility.
Cancer services
Test |
Service Provision Contingency |
Date commencing contingency |
Anticipated TAT *(Calender days) |
Anticipated contingency Period ** |
|
ALL SNP array |
Send Out |
31/10/2024 |
14 |
Up to 6 weeks |
|
ALL BCR::ABL1 diagnostic PCR |
Send Out |
31/10/2024 |
14 |
Up to 6 weeks |
|
AML molecular monitoring |
Send Out |
28/10/2024 |
10 |
Up to 6 weeks |
|
BCR::ABL1 (e13a2/e14a2) monitoring |
Send Out |
21/11/2024 |
14 |
Up to 6 weeks |
|
BRAF V600 Analysis |
Send Out |
25/11/2024 |
14 |
Up to 6 weeks |
|
Breast DNA NGS |
Now Inhouse |
Send Out |
28/10/2024 |
Up to 21 days |
Up to 6 weeks |
CALR |
Now Inhouse |
Send Out |
28/10/2024 |
14 |
Up to 6 weeks |
Cancer of unknown primary (CUP) - DNA NGS |
Now Inhouse |
Send Out |
31/10/2024 |
Up to 21 days |
Up to 6 weeks |
Cancer of unknown primary (CUP) - RNA NGS |
Now Inhouse |
Send Out |
31/10/2024 |
Up to 21 days |
Up to 6 weeks |
Cholangiocarcinoma DNA NGS |
Now Inhouse |
Send Out |
31/10/2024 |
14 |
Up to 6 weeks |
Cholangiocarcinoma FISH |
|
Send Out |
31/10/2024 |
Up to 21 days |
Up to 6 weeks |
CLL DNA NGS |
|
Send Out |
31/10/2024 |
Up to 21 days |
Up to 6 weeks |
Clonality (T/Bcell screen) |
Now Inhouse |
Send Out |
04/11/2024 |
21 |
Up to 6 weeks |
CML BCR::ABL1 Diagnostic PCR |
|
Send Out |
01/11/2024 |
14 |
Up to 6 weeks |
CMML BCR::ABL1 Diagnostic PCR |
|
Send Out |
28/10/2024 |
14 |
Up to 6 weeks |
Colorectal DNA NGS |
Now Inhouse |
Send Out |
31/10/2024 |
14 |
Up to 6 weeks |
ctDNA Colorectal KRAS/NRAS ddpPCR |
|
Pause Service |
26/11/2024 |
N/A |
Up to 6 weeks |
ctDNA Melanoma BRAF Pyrosequencing |
|
Pause Service |
26/11/2024 |
N/A |
Up to 6 weeks |
ctDNA Lung Cancer EGFR ddPCR |
|
Send Out |
27/11/2024 |
7 |
Up to 6 weeks |
Endometrial DNA NGS |
Now Inhouse |
Send Out |
31/10/2024 |
14 |
Up to 6 weeks |
FFPE Lymphoma FISH |
|
Send Out |
20/11/2024 |
Up to 21 days |
Up to 6 weeks |
FLT3 ITD & NPM1 testing |
|
Send Out |
28/10/2024 |
3 |
Up to 6 weeks |
Germline Cancer Tests |
|
Pause Service |
28/10/2024 |
N/A |
Up to 6 weeks |
Germline Cancer Tests - BRCA 1 & 2 Tests*** |
|
Send Out |
28/10/2024 |
Up to 21 days |
Up to 6 weeks |
GIST DNA NGS |
Now Inhouse |
Send Out |
31/10/2024 |
Up to 21 days |
Up to 6 weeks |
Glioma DNA NGS |
Now Inhouse |
Send Out |
31/10/2024 |
Up to 21 days |
Up to 6 weeks |
Glioma RNA NGS |
Now Inhouse |
Send Out |
31/10/2024 |
Up to 21 days |
Up to 6 weeks |
JAK2 Diagnostic |
|
Send Out |
25/11/2024 |
14 |
Up to 6 weeks |
JAK2 exon 12 & MPL |
|
Send Out |
28/10/2024 |
Up to 21 days |
Up to 6 weeks |
Lung DNA NGS |
Now Inhouse |
Send Out |
28/10/2024 |
Up to 21 days |
Up to 6 weeks |
Lung RNA NGS |
Now Inhouse |
Send Out |
28/10/2024 |
Up to 21 days |
Up to 6 weeks |
Melanoma DNA NGS |
Now Inhouse |
Send Out |
31/10/2024 |
Up to 21 days |
Up to 6 weeks |
Melanoma RNA NGS |
Now Inhouse |
Send Out |
31/10/2024 |
Up to 21 days |
Up to 6 weeks |
Melanoma urgent BRAF Pyro-sequencing |
|
Send Out |
25/11/2024 |
14 |
Up to 6 weeks |
MGMT Analysis |
|
Send Out |
25/11/2024 |
14 |
Up to 6 weeks |
MLH1 methylation Analysis |
|
Send Out |
25/11/2024 |
14 |
Up to 6 weeks |
MSI Testing, BRAF, MLH1 |
Now Inhouse |
Send Out |
28/10/2024 |
14 |
Up to 6 weeks |
MYD88 ddPCR (lymphoplasmocytic lymphoma& Waldenstrom macroglobulinemia service) |
Now Inhouse |
Send Out |
25/11/2024 |
14 |
Up to 6 weeks |
Myeloid NGS & AML rapid panel |
Now Inhouse |
Send Out |
28/10/2024 |
Up to 21 days |
Up to 6 weeks |
NTRK RNA NGS |
Now Inhouse |
Send Out |
28/10/2024 |
14 |
Up to 6 weeks |
Ovarian DNA NGS |
Now Inhouse |
Send Out |
31/10/2024 |
14 |
Up to 6 weeks |
Prostate DNA NGS |
Now Inhouse |
Send Out |
31/10/2024 |
14 |
Up to 6 weeks |
QuicDNA (lung ctDNA NGS) |
Now Inhouse |
Pause Service |
31/11/2024 |
N/A |
Up to 6 weeks |
Sex matched Chimerism analysis |
Now Inhouse |
Send Out |
28/10/2024 |
14 |
Up to 6 weeks |
Systemic Mastocytosis Service (cKIT ddPCR) |
|
Send Out |
25/11/2024 |
14 |
Up to 6 weeks |
Thyroid DNA NGS |
Now Inhouse |
Send Out |
31/10/2024 |
14 |
Up to 6 weeks |
Thyroid RNA NGS |
Now Inhouse |
Send Out |
31/10/2024 |
14 |
Up to 6 weeks |
Thyroid urgent BRAF pyro-sequencing |
|
Send Out |
25/11/2024 |
14 |
Up to 6 weeks |
Tissue ID |
Now Inhouse |
Pause Service |
28/10/2024 |
N/A |
Up to 6 weeks |
Tumour RNA NGS |
Now Inhouse |
Send Out |
31/10/2024 |
14 |
Up to 6 weeks |
* Due to the nature of send out provision, there may be unforeseen delays in TAT that extends the TAT up to 21 days. The TAT listed is calculated from receipt of the sample at the external laboratory provider |
|||||
** It is anticipated that service provision contingency plan for the described test, will take up to this length of time |
|||||
***where treatment with Olaparib is indicated (Ovarian tumours, prostate tumours and Breast tumours) |
|
||||
Rare Disease Services
Test |
Test DirectoryR/M Number |
Service Provision Contingency |
Date commencing contingency |
Anticipated TAT *(Calender days) |
Anticipated contingency Period ** |
|
Cerebral brain malformation gene panel service |
R87 |
Now Inhouse |
Pause service |
01/11/2024 |
N/A |
Up to 6 weeks |
Cerebral brain malformations SNP array testing |
R87 |
Now Inhouse |
Send Out Option |
31/10/2024 |
42 |
Up to 6 weeks |
Congenital Malformation Syndromes and/or Dysmorphism Service |
R27 |
Now Inhouse |
Pause service |
01/11/2024 |
N/A |
Up to 6 weeks |
Cystic fibrosis testing |
R184, R185, R253 |
|
Send Out Option |
25/11/2024 |
No Change |
Up to 6 weeks |
DFNB1 hereditary hearing loss |
|
|
Pause service |
30/10/2024 |
N/A |
Up to 6 weeks |
Early onset epilepsy or syndromic epilepsy/Cerebral brain malformations service |
R242, R240, R244 |
Now Inhouse |
Pause service |
30/10/2024 |
N/A |
Up to 6 weeks |
Early onset or syndromic epilepsy gene panel service |
R59 |
Now Inhouse |
Pause service |
01/11/2024 |
N/A |
Up to 6 weeks |
Early onset or syndromic epilepsy SNP array testing |
R59 |
Now Inhouse |
Send Out Option |
31/10/2024 |
42 |
Up to 6 weeks |
Factor V Leiden and Prothrombin |
Now Inhouse |
Send Out Option |
25/11/2024 |
42 |
Up to 6 weeks |
|
Familial hypercholesterolaemia |
R134 |
|
Send Out Option |
Existing Send out |
No change |
Up to 6 weeks |
Family follow-up/Known mutation testing/Carrier testing |
R242, R240, R244 |
|
Pause/Send Out Option |
30/10/2024 |
Yes |
Up to 6 weeks |
Fetal anomaly gene panel (FAGP) |
R21 |
Now Inhouse |
Send Out Option |
01/11/2024 |
14 |
Up to 6 weeks |
FMR1-related premature ovarian insufficiency testing |
R402 |
|
Send Out Option |
04/11/2024 |
42 |
Up to 6 weeks |
Fragile X syndrome testing (Asuragen) |
R53 |
Now Inhouse |
Send Out Option |
04/11/2024 |
42 |
Up to 6 weeks |
Fragile X syndrome testing (PCR) |
R53 |
Now Inhouse |
Pause service |
04/11/2024 |
N/A |
Up to 6 weeks |
Fragile X Testing (familial testing) |
R240 |
Now Inhouse |
Send Out Option |
04/11/2024 |
42 |
Up to 6 weeks |
Fragile X Tremor/Ataxia Testing |
R53 |
Now Inhouse |
Send Out Option |
04/11/2024 |
42 |
Up to 6 weeks |
Frontotemporal dementia/amyotropic Lateral Sclerosis (FTD/ALS) |
|
|
Send Out Option |
04/11/2024 |
42 |
Up to 6 weeks |
Haemochromatosis (HFE common mutations) |
Now Inhouse |
Send Out Option |
25/11/2024 |
42 |
Up to 6 weeks |
|
Huntington Disease (HD) |
R68 |
Now Inhouse |
Send Out Option |
04/11/2024 |
42 |
Up to 6 weeks |
Huntington Disease family test |
R68 |
Now Inhouse |
Send Out Option |
04/11/2024 |
42 |
Up to 6 weeks |
Hyperlipidemia APO E2 |
Now Inhouse |
Send Out Option |
25/11/2024 |
42 |
Up to 6 weeks |
|
Intellectual Disability Service |
R29 |
Now Inhouse |
Pause service |
01/11/2024 |
84 |
Up to 6 weeks |
MTHFR |
Now Inhouse |
Send Out Option |
25/11/2024 |
42 |
Up to 6 weeks |
|
Myotonic dystrophy type 1 (DM1) |
R72 |
Now Inhouse |
Send Out Option |
04/11/2024 |
42 |
Up to 6 weeks |
Urgent Myotonic dystrophy type 1 diagnostic test |
R72 |
Now Inhouse |
Send Out Option |
04/11/2024 |
TBC |
Up to 6 weeks |
Myotonic dystrophy type 1 family test |
R72 |
Now Inhouse |
Send Out Option |
04/11/2024 |
42 |
Up to 6 weeks |
Myotonic dystrophy type 2 (DM2) |
R410 |
Now Inhouse |
Pause service |
04/11/2024 |
N/A |
Up to 6 weeks |
NIPT testing |
R445 |
|
Send Out Option |
04/11/2024 |
14 |
Up to 6 weeks |
Routine postnatal karyotype testing |
R297 |
|
Send Out Option |
28/10/2024 |
42 |
Up to 6 weeks |
Postnatal SNP array testing |
|
Now Inhouse |
Send Out Option |
31/10/2024 |
42 |
Up to 6 weeks |
Pregnancy-related rapid sequencing service (PRRS) |
R14 |
Now Inhouse |
TBC |
31/10/2024 |
TBC |
Up to 6 weeks |
Prenatal and urgent postnatal karyotype analysis |
R297 |
|
In-house provision |
N/A |
No Change |
Up to 6 weeks |
Prenatal rapid aneuploidy testing by QF-PCR |
R26 |
Now Inhouse |
Send Out Option |
07/11/2024 |
3 |
Up to 6 weeks |
Prenatal SNP array |
R22 |
Now Inhouse |
Send Out Option |
31/10/2024 |
42 |
Up to 6 weeks |
Primary Immunodeficiency |
R15 |
|
Send Out option |
04/11/2024 |
84 |
TBC |
qPCR analysis for copy number variants (diagnostic) |
R240 |
|
Pause service |
25/11/2024 |
N/A |
Up to 6 weeks |
qPCR analysis for copy number variants (family follow-up/known mutation testing) |
R242, R240, R244 |
|
Pause service |
25/11/2024 |
N/A |
Up to 6 weeks |
Rapid aneuploidy testing by QF-PCR on postnatal samples |
R26 |
Now Inhouse |
Send Out Option |
07/11/2024 |
3 |
Up to 6 weeks |
Rapid WGS (WINGS) testing |
R14 |
Now Inhouse |
Send Out Option |
31/10/2024 |
TBC |
Up to 6 weeks |
SNP Array testing (postnatal) |
|
Now Inhouse |
Send Out Option |
31/10/2024 |
42 |
Up to 6 weeks |
Spinocerebellar ataxia (SCA types 1, 2, 3, 6, 7, 17) |
|
|
Send Out Option |
04/11/2024 |
42 |
Up to 6 weeks |
Targeted SNP array testing |
|
Now Inhouse |
Send Out Option |
31/10/2024 |
42 |
Up to 6 weeks |
Targeted qPCR analysis for copy number variants |
|
Send Out Option |
21/11/2024 |
Up to 6 weeks |
||
Testing on pregnancy loss samples and post-mortem fetal tissue samples |
R318, R22 |
|
Pause service |
31/10/2024 |
N/A |
Up to 6 weeks |
Urgent testing for familial variant(s) |
R242, R240, R244 |
|
Pause service |
31/10/2024 |
N/A |
Up to 6 weeks |
DPD deficiency |
|
Now Inhouse |
Send Out Option |
04/11/2024 |
7 |
Up to 6 weeks |
Myotonic dystrophy type 2 family test |
|
Now Inhouse |
Pause service |
04/11/2024 |
N/A |
Up to 6 weeks |
Spinocerebellar ataxia (SCA types 1, 2, 3, 6, 7, 17) family test |
|
|
Send Out Option |
04/11/2024 |
42 |
Up to 6 weeks |
|
|
|
|
|
|
|
|
* Due to the nature of send out provision, there may be unforeseen delays in TAT that extends the TAT up to 21 days. |
|
|
|
|
||
** It is anticipated that service provision contingency plan for the described test, will take up to this length of time |
|
|
|
|
||