Mae gwasanaethau labordy Gwasanaeth Genomeg Feddygol Cymru Gyfan (AWMGS) yn darparu ystod eang o wasanaethau dadansoddi genetig a genomeg ar gyfer clefydau prin, canser a ffarmacogenetig i boblogaeth Cymru, y DU ac yn rhyngwladol. Fel rhan o wasanaeth genomeg integredig, mae'r labordy hefyd yn cydweithio'n agos â Meddygon Genetig Clinigol a chydweithwyr o ddisgyblaethau eraill, gan gynnwys gwasanaethau obstetreg, pediatreg ac oncoleg.
Mae Gwasanaeth Genomeg Feddygol Cymru Gyfan wedi ymrwymo i ddarparu gwasanaeth o'r radd flaenaf.
 
Defnyddiwch y tabl canlynol i weld y profion sydd ar gael. Er hwylustod, gallwch naill ai adfer y prawf a ddymunir trwy roi allweddair yn y blwch chwilio isod, neu ddewis o un o'r dewislenni isod i fynegeio yn ôl cod cyfeiriadur prawf (os yw'n hysbys), 'Arbenigedd', 'Targed' (genyn) a 'dull’.

Lab Photo

Lle nodir, mae'r profion a ddarparwn sy'n debyg i'r cyfeiriadur prawf wedi'u nodi â rhif 'R' neu 'M'.
Mae 'rhifau R' yn cyfateb i brofion clefydau prin ac etifeddol.
Mae 'rhifau M' yn cyfateb i brofion canser (somatig)
 
Os na ddangosir y prawf yr ydych yn chwilio amdano yma, efallai ei fod yn un yr ydym yn ei anfon at labordy y tu allan i Gymru, cysylltwch â ni o wybodaeth.
 
Gallwch ddod o hyd i ddolenni i Gyfeirlyfr Prawf GIG Lloegr isod:
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Service Code Speciality Method Target Download
Li Fraumeni syndrome (TP53) R216 Cancer Genetics DNA NGS Panel TP53 Download Request Form
LIPIDS - Familial Hypercholesterolaemia (FH) R134 Specialist Rare Disease Small panel Familial hypercholesterolaemia – targeted panel (772) Download Service information sheet Download Request Form Download Request Form
Lymphoma Service M95.3, M96, M97.1, M98.1, M99.1-M99.7, M101.1, M102.1, M102.2, M103.1-M103.3, M107.4, M107.5, M111.2, M182.2, 225.1,225.3 Haematology FISH, complex targeted mutation testing MYC, BCL2, BCL6, 11q MYC-IGH, MYC-IGK MYC-IGL, IGH-BCL2, IGH-CCND1, P53-CEN17 ALK, IRF4, TP63, DUSP22, TCRB, TCRG, MALT Download Service information sheet Download Request Form
Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC) M1.4, M1.5 Oncology Microsatellite instability or IHC MSI or MMR (MLH1, MSH2, MSH6, PMS2) deficiency Download Service information sheet Download Request Form
Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC) follow-up M1.5 Pathology Pyrosequencing BRAF hotspot, MLH1 Promoter hypermethylation Download Service information sheet Download Request Form
Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC) gene screen R210 Oncology DNA NGS panel MLH1, MSH2, MSH6 Download Service information sheet Download Request Form
Melanoma (DNA) M7.1, M7.2 Oncology DNA panel, simple targeted mutation testing BRAF, KIT, NRAS Download Service information sheet Download Request Form
Myelodysplasia M82 Haematological Malignancy Download Request Form
Myeloma Service M92.2, M92.4, M92.5, M92.8, M92.10, M92.11, M92.12 Haematology FISH TP53, IGH, MAF, CCND1, FGFR3, CDKN2C, CKS1B Download Service information sheet Download Request Form
Myotonic dystrophy type 1 R72.1 Neurology STR testing DMPK STR Download Service information sheet Download Request Form
Myotonic dystrophy type 2 (DM2) R410 Neurology STR testing CNBP (ZNF9) STR Download Service information sheet Download Request Form
Neurofibromatosis type 1 (NF1) R222 Cancer Genetics DNA NGS panel NF1 Download Service information sheet Download Request Form
Next Generation Sequencing for Myeloid Malignancies M80.2, M82.1, M85.1, M89.4 Haematology ASXL1, BCOR, CALR, CEBPA, CBL, DNMT3A, EZH2, ETV6, FLT3, GATA2, IDH1, IDH2, JAK2, KRAS, KIT, MPL, NRAS, NPM1, NOTCH1, PDGFRA, RUNX1, SF3B1, SRSF2, SETBP1, TET2, TP53, U2AF1 Download Service information sheet Download Request Form
Non Small Cell Lung Cancer, NSCLC (Circulating Tumour DNA, ctDNA) M4.5 Oncology Simple targeted mutation testing EGFR Download Service information sheet Download Request Form Download Request Form
Non Small Cell Lung Cancer, NSCLC (DNA) M4.1 Oncology DNA Panel EGFR, ALK, BRAF, KRAS ROS1, RET, ELM4-ALK, NTRK1, NTRK2, NTRK3 Download Service information sheet Download Request Form
Non Small Cell Lung Cancer, NSCLC (FISH) M4.6, M4.10 Oncology FISH ALK, ROS1 (Confirmation of IHC results by prior arrangement) Download Service information sheet Download Request Form
Non small cell lung cancer, NSCLC (RNA) M4.2 Oncology Panel Simple targeted mutation testing FISH/Simple targeted mutation testing ALK, ROS1, RET, MET, EGFR, NTRK 1, NTRK 2, NTRK 3 Download Service information sheet Download Request Form
Non-Invasive Prenatal Testing (NIPT) NA Prenatal Massively Parallel Shotgun Sequencing Chromosomes 13, 18 and 21 Download Service information sheet Download Request Form Download Request Form Download Request Form
NTRK (RNA) M1.6, M2.3, M215. M3.5, M4.2, M231.2, M5.2, M6.2, M7.3, M187.4, M8.2. M9.2, M9.4, M10.2, M11.4, M12.2 . M13.2, M14.4, M15.2, M15.6, M16.2, M17.2, M18.6, M217.3, M218.2, M219.2, M220.1, M221.1, M222.2, M226.1, M227.1, M20.5, M21.21, M22.9, M23.11, M24.6, M25.9, M26.4, M27.15, M28.8, M29.8, M30.4, M31.6, M32.5, M34.7, M35.8, M36.14, M37.4, M38.5, M39.4, M183.9, M184.8, M185.5, M186.8, M213.2, M189.2, M190.2, M191.21, M192.21, M193.21, M194.24, M42.5, M43.3, M45.4, M46.3, M47.3, M48.3, M49.1, M50.3, M52.3, M53.5, M55.1, M56.3, M57.1, M58.3, M60.3, M61.1, M62.3, M63.3, M64.3, M65.3, M66.3, M67.3, M68.4, M70.3, M71.3, M72.1, M73.3, M74.3, M75.3, M75.1, M76.3, M77.3, M78.1, M79.3, M196.4, M198.5, M199.2, M200.1, M201.4, M202.7, M203.6, M204.6, M205.8, M206.8, M207.7, M208.1, M209.5, M210.1, M211.4, M85.3, M119.2, M120.6, M124.10, M126.3, M127.4, M195.4, M130.5, M131.5, M132.2, M133.4, M136.3, M137.2, M138.3, M139.2, M143.5, M145.14, M146.7, M147.8, M148.9, M149.3, M150.8, M151.6, M152.16, M153.5, M155.4, M156.9, M157.3, M158.6, M159.6, M160.2, M161.5, M162.9, M165.7, M212.15, M166.3, M167.5, M168.6, M169.5, M170.7, M171.8, M172.7, M173.3, M174.4, M178.4, M179.10, M180.7 Oncology RNA NTRK1, NTRK2, NTRK3 Download Request Form Download Request Form
Opthamology - Leber Hereditary Optic Neuropathy (LHON) R42.1  Specialist Rare Disease Targeted mutation testing Three common LHON variants Download Service information sheet Download Request Form
Ovarian Cancer (blood testing) M2.1 Oncology DNA NGS Panel BRCA1, BRCA2 Download Service information sheet Download Request Form
Ovarian Cancer (tumour testing) M2.1, M2.5 Oncology DNA NGS panel or Myriad HRD testing BRCA1/2 and/or Genomic Instability Download Service information sheet Download Request Form
Peutz-Jegher Syndrome R212 Cancer Genetics DNA NGS panel STK11 Download Request Form
Pilot study – Non-Invasive-Prenatal Testing (NIPT) in pregnancies with fetal anomalies Prenatal Massively Parallel Shotgun Sequencing Chromosomes 13, 18 and 21 Download Service information sheet Download Request Form
Polyposis, including Familial Adenomatous Polyposis (FAP, AFAP) and MUTYH-associated Polyposis (MAP) R211 Cancer Genetics DNA NGS panel APC, MUTYH, BMPR1A, SMAD4, POLD1, POLE Download Service information sheet Download Request Form
Postnatal Cytogenetic Analysis R297, R265, R314, R146 Developmental Delay Karyotype Common aneuploidy testing Microarray As determined by indication Genomewide Sex chromosomes Download Request Form
Pregnancy Related Rapid Sequencing (R14) R14 Core Rare Disease Whole Genome Sequencing, Whole Exome Sequencing Paediatric Disorders Download Service information sheet Download Request Form
Prenatal Cytogenetic Analysis R401, R22 Prenatal Common aneuploidy testing Microarray Genomewide Download Service information sheet Download Request Form
Prenatal Service: Abnormal Scan Single Nucleotide Polymorphism Array (SNP Array) R22 Prenatal Download Service information sheet Download Request Form Download Request Form
Prostate BRCA test (PARP inhibitor eligibility) - Blood R444.2 Oncology DNA NGS panel BRCA1, BRCA2 Download Service information sheet Download Request Form
Prostate BRCA test (PARP inhibitor eligibility) - Tumour (NTRK can also be requested on this form) M218.1 Oncology DNA NGS panel BRCA1, BRCA2 Download Service information sheet Download Request Form
PTEN hamartoma syndrome (PTEN), Cowden Syndrome R213 Cancer Genetics DNA NGS Panel PTEN Download Request Form
QF-PCR Aneuploidy Screening R401.1, R26, R314.1 Prenatal Common aneuploidy testing Genomewide Sex chromosomes Download Service information sheet Download Request Form
R381 - Other Rare Neuromuscular Disorders Gene Panel R381 Neurology Large Panel Other Rare Neuromuscular Disorders Download Service information sheet Download Request Form
R54 - Hereditary ataxia with onset in adulthood R54 Neurology Large Panel Hereditary ataxia with onset in adulthood Download Service information sheet Download Request Form
R55 - Hereditary ataxia and cerebellar anomalies - childhood onset R55 Neurology Large Panel Hereditary ataxia and cerebellar anomalies - childhood onset Download Service information sheet Download Request Form
R56 - Adult onset dystonia, chorea or related movement disorder R56 Neurology Large Panel Adult onset dystonia, chorea or related movement disorder Download Service information sheet Download Request Form
R57 - Childhood onset dystonia, chorea or related movement disorder R57 Neurology Large Panel Childhood onset dystonia, chorea or related movement disorder Download Service information sheet Download Request Form
R58 - Adult onset neurodegenerative disorder R58 Neurology Large Panel Adult onset neurodegenerative disorder Download Service information sheet Download Request Form
R60 - Adult onset hereditary spastic paraplegia R60 Neurology Large Panel Adult onset hereditary spastic paraplegia Download Service information sheet Download Request Form
R61 - Childhood onset hereditary spastic paraplegia R61 Neurology Large Panel Childhood onset hereditary spastic paraplegia Download Service information sheet Download Request Form
R62 - Adult Onset Leukodystrophy Gene Panel R62 Neurology Large Panel Adult Onset Leukodystrophy Download Service information sheet Download Request Form
R86 - Hydrocephalus Gene Panel R86 Neurology Large Panel Hydrocephalus Download Service information sheet Download Request Form
Rapid BRAF testing for anaplastic thyroid carcinoma (FFPE DNA) n/a Oncology FFPE Pyrosequencing (BRAF only) BRAF Download Service information sheet Download Request Form
Rapid BRAF testing for metastatic melanoma (ctDNA) n/a Oncology ctDNA Pyrosequencing (BRAF only) BRAF Download Service information sheet Download Request Form Download Request Form
Rapid BRAF testing for metastatic melanoma (FFPE) n/a Oncology FFPE Pyrosequencing (BRAF only) BRAF Download Service information sheet Download Request Form
Respiratory - Cystic Fibrosis (CF) R184.1 Specialist Rare Disease Targeted Testing CFTR 8 common Welsh variants, CFTR 50 common European variants *Please note CF50 tests are currently being referred to an external lab until 30/11/23 Download Service information sheet Download Request Form
Sarcoma M42.1, M42.2, M43.1, M45.1, M45.2, M48.1, M50.1, M56.1, M58.1, M62.1, M63.1, M63.2, M66.1, M67.1, M68.3, M74.1, M76.1, M77.1, M79.1, M196.1, M197.2, M197.3, M197.4, M197.8, M198.1, M199.3, M199.4, M199.5, M199.6, M199.7, M199.8, M199.9, M199.10, M200.2 Pathology FISH PAX3-FOXO1,TFE3, EWSR1, COL1A1-PDGFB, NR4A3, ETV6-NTRK3, TPM4-ALK, TPM3-ALK, EWSR1, DDIT3, MDM2, MYC, FUS, SS18. FOXO1, USP6 Download Request Form
Single nucleotide polymorphism (SNP) array Service for Developmental Disorders R337.1 Developmental Delay SNP Array Whole genome CNV Download Service information sheet Download Request Form Download Request Form
Solid Tissue Cytogenetic Analysis R318, R322 Prenatal Common aneuploidy testing Microarray Genomewide Download Service information sheet Download Request Form