Adleoli Labordy Gwasanaeth Genomeg Feddygol Cymru Gyfan
Cyfnod Newydd i Feddygaeth Genomig yng Nghymru
Mae gofal iechyd Cymru wedi bod trwy gyfnod trawsnewid cyffrous ac ym mis Tachwedd 2023 dechreuodd Gwasanaeth Genomeg Feddygol Cymru Gyfan (GGFCG) drawsnewid i'r cyfleuster newydd o'r radd flaenaf ym Mharc Gwyddor Bywyd Cardiff Edge, Canolfan Iechyd Genomig Cymru (CIGC) yn Coryton, Caerdydd.
Nod y penderfyniad hwn i gydleoli GGFCG ag Uned Genomeg Pathogen (PenGu) yn Iechyd Cyhoeddus Cymru a Pharc Geneteg Cymru yw creu cyfleuster genomeg blaengar sydd ar flaen y gad o ran arloesi a chydweithio ym maes genomeg. Felly, mae’n cefnogi trawsnewid gofal iechyd Cymru, drwy symleiddio'r profion clinigol a labordy, monitro pathogenau ac ymchwil genomeg, i gyd er budd cleifion.
Y camau nesaf
O fis Tachwedd 2023, daeth CIGC yn ganolbwynt gwaith ar gyfer PenGu a Gwasanaethau Clinigol GGFCG a thimau Rheoli Cyfarwyddiaeth. Adleoli gwasanaethau Labordy GGFCG (LGCG) i CIGC yw'r cam cyffrous nesaf wrth integreiddio gwasanaethau Genomig Cymru ac mae disgwyl iddo ddechrau ar 8 Tachwedd 2024. Oherwydd natur gymhleth adleoli LGCG, yn anffodus fe fydd rhywfaint o darfu, ar ein gwasanaethau/darpariaeth dros yr wythnosau nesaf. Rydym wedi datblygu cynllun adleoli cadarn ac wedi mynd i'r afael â hyn gyda ffocws a phroses benderfynu wedi'i hasesu o ran risg sy'n canolbwyntio ar yr effaith ar gleifion. Mae hyn er mwyn sicrhau, lle bo hynny'n bosibl, y bydd darpariaeth brofi ar gyfer gwasanaethau clinigol yn parhau i fodoli.
Gwybodaeth Profi Geneteg
Mae'r tablau isod yn cynnwys gwybodaeth sy'n ymwneud â'r oedi neu'r tarfu a fydd yn effeithio ar wasanaethau yn ystod adleoliad labordy GGFCG i CIGC wrth i ni actifadu darpariaeth gwasanaethau wrth gefn. Bydd hyn yn rhoi gwybodaeth am ddyddiad cychwyn y cynllun wrth gefn, natur y cynllun wrth gefn, amcangyfrif o hyd y tarfu, ac a oes unrhyw estyniadau disgwyliedig i amseroedd adrodd. Bydd y wybodaeth hon yn cael ei diweddaru'n rheolaidd a bydd gohebiaeth yn cael ei rhannu pan fydd gwasanaethau wrth gefn yn dod i ben ac mae'r ddarpariaeth brofi wedi ailddechrau gwasanaeth arferol yn ein cyfleuster newydd.
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 |
Breast DNA NGS |
Send Out |
28/10/2024 |
Up to 21 days |
Up to 6 weeks |
CALR |
Send Out |
28/10/2024 |
14 |
Up to 6 weeks |
Cancer of unknown primary (CUP) - DNA NGS |
Send Out |
31/10/2024 |
Up to 21 days |
Up to 6 weeks |
Cancer of unknown primary (CUP) - RNA NGS |
Send Out |
31/10/2024 |
Up to 21 days |
Up to 6 weeks |
Cholangiocarcinoma DNA NGS |
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) |
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 |
Send Out |
31/10/2024 |
14 |
Up to 6 weeks |
Endometrial DNA NGS |
Send Out |
31/10/2024 |
14 |
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 |
Send Out |
31/10/2024 |
Up to 21 days |
Up to 6 weeks |
Glioma DNA NGS |
Send Out |
31/10/2024 |
Up to 21 days |
Up to 6 weeks |
Glioma RNA NGS |
Send Out |
31/10/2024 |
Up to 21 days |
Up to 6 weeks |
JAK2 exon 12 & MPL |
Send Out |
28/10/2024 |
Up to 21 days |
Up to 6 weeks |
Lung DNA NGS |
Send Out |
28/10/2024 |
Up to 21 days |
Up to 6 weeks |
Lung RNA NGS |
Send Out |
28/10/2024 |
Up to 21 days |
Up to 6 weeks |
Melanoma DNA NGS |
Send Out |
31/10/2024 |
Up to 21 days |
Up to 6 weeks |
Melanoma DNA NGS |
Send Out |
31/10/2024 |
Up to 21 days |
Up to 6 weeks |
MSI Testing, BRAF, MLH1 |
Send Out |
28/10/2024 |
14 |
Up to 6 weeks |
Myeloid NGS & AML rapid panel |
Send Out |
28/10/2024 |
Up to 21 days |
Up to 6 weeks |
NTRK RNA NGS |
Send Out |
28/10/2024 |
14 |
Up to 6 weeks |
Ovarian DNA NGS |
Send Out |
31/10/2024 |
14 |
Up to 6 weeks |
Prostate DNA NGS |
Send Out |
31/10/2024 |
14 |
Up to 6 weeks |
QuicDNA (lung ctDNA NGS) |
Pause Service |
31/11/2024 |
N/A |
Up to 6 weeks |
Sex matched Chimerism analysis |
Send Out |
28/10/2024 |
14 |
Up to 6 weeks |
Thyroid DNA NGS |
Send Out |
31/10/2024 |
14 |
Up to 6 weeks |
Thyroid RNA NGS |
Send Out |
31/10/2024 |
14 |
Up to 6 weeks |
Tissue ID |
Pause Service |
28/10/2024 |
N/A |
Up to 6 weeks |
Tumour RNA NGS |
Send Out |
31/10/2024 |
14 |
Up to 6 weeks |
*Oherwydd natur y ddarpariaeth anfon, efallai y bydd oedi annisgwyl yn TAT sy'n ymestyn y TAT hyd at 21 diwrnod. Mae'r TAT a restrir yn cael ei gyfrifo ar ôl derbyn y sampl yn y darparwr labordy allanol |
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**Rhagwelir y bydd y cynllun wrth gefn ar gyfer y prawf a ddisgrifiwyd yn cymryd hyd at yr amser hwn |
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*** Lle nodir triniaeth gydag Olaparib (tiwmorau ofarïaidd, tiwmorau'r prostad a thiwmorau'r fron) |
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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 |
Pause service |
01/11/2024 |
N/A |
Up to 6 weeks |
Cerebral brain malformations SNP array testing |
R87 |
Send Out Option |
31/10/2024 |
42 |
Up to 6 weeks |
Congenital Malformation Syndromes and/or Dysmorphism Service |
R27 |
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 |
Pause service |
30/10/2024 |
N/A |
Up to 6 weeks |
Early onset or syndromic epilepsy gene panel service |
R59 |
Pause service |
01/11/2024 |
N/A |
Up to 6 weeks |
Early onset or syndromic epilepsy SNP array testing |
R59 |
Send Out Option |
31/10/2024 |
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 |
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 |
Send Out Option |
04/11/2024 |
42 |
Up to 6 weeks |
Fragile X syndrome testing (PCR) |
R53 |
Pause service |
04/11/2024 |
N/A |
Up to 6 weeks |
Fragile X Testing (familial testing) |
R240 |
Send Out Option |
04/11/2024 |
42 |
Up to 6 weeks |
Fragile X Tremor/Ataxia Testing |
R53 |
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 |
Huntington Disease (HD) |
R68 |
Send Out Option |
04/11/2024 |
42 |
Up to 6 weeks |
Huntington Disease family test |
R68 |
Send Out Option |
04/11/2024 |
42 |
Up to 6 weeks |
Intellectual Disability Service |
R29 |
Pause service |
01/11/2024 |
84 |
Up to 6 weeks |
Myotonic dystrophy type 1 (DM1) |
R72 |
Send Out Option |
04/11/2024 |
42 |
Up to 6 weeks |
Urgent Myotonic dystrophy type 1 diagnostic test |
R72 |
Send Out Option |
04/11/2024 |
TBC |
Up to 6 weeks |
Myotonic dystrophy type 1 family test |
R72 |
Send Out Option |
04/11/2024 |
42 |
Up to 6 weeks |
Myotonic dystrophy type 2 (DM2) |
R410 |
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 |
|
Send Out Option |
31/10/2024 |
42 |
Up to 6 weeks |
Pregnancy-related rapid sequencing service (PRRS) |
R14 |
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 |
Send Out Option |
07/11/2024 |
3 |
Up to 6 weeks |
Prenatal SNP array |
R22 |
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 |
Send Out Option |
07/11/2024 |
3 |
Up to 6 weeks |
Rapid WGS (WINGS) testing |
R14 |
Send Out Option |
31/10/2024 |
TBC |
Up to 6 weeks |
SNP Array testing (postnatal) |
|
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 |
|
Send Out Option |
31/10/2024 |
42 |
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 |
|
Send Out Option |
04/11/2024 |
7 |
Up to 6 weeks |
Myotonic dystrophy type 2 family test |
|
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 |
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*Oherwydd natur y ddarpariaeth anfon, efallai y bydd oedi annisgwyl yn TAT sy'n ymestyn y TAT hyd at 21 diwrnod. Mae'r TAT a restrir yn cael ei gyfrifo ar ôl derbyn y sampl yn y darparwr labordy allanol |
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**Rhagwelir y bydd y cynllun wrth gefn ar gyfer y prawf a ddisgrifiwyd yn cymryd hyd at yr amser hwn |
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