The All Wales Medical Genomic Service (AWMGS) laboratory services delivers a wide range of genetic and genomic analysis services for both rare disease, cancer and pharmacogenetics to the Welsh population, UK and internationally. As part of an integrated genomic service, the laboratory also works in close collaboration with Clinical Genetics Doctors and colleagues from other disciplines, including obstetrics, paediatrics and oncology services.
The AWMGS is committed to provide a service of the highest quality.
 
Please use the following table to view the tests available. For ease, you can either retrieve the desired test by entering a keyword into the search box below, or select from one of the following drop down’s menus to index by test directory code (if known), ‘Speciality’, ‘Target’ (gene) and ‘method’.

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Where indicated, the tests we provide which are comparable to the test directory are indicated with an ‘R’ or ‘M’ number.
'R numbers' correspond to rare and inherited disease tests.
'M numbers' correspond to (somatic) cancer tests.
 
If the test you are looking for is not shown here, it may be one that we send to a laboratory outside Wales, please contact us for further information.
 
You can find links to the NHS England Test Directory below:
   Rare and inherited disease (including inherited cancers)download icon new
download icon new   National genomic test directory for cancer
 

Key:
Download Service information sheet Service information sheet.
Download Request FormRequest Form.
Download Additional DocumentationAdditional Documentation
Filter by category
Service R or M Code Speciality Method Target Gene Download
Intellectual Disability Service R29 Core Rare Disease Whole Exome Sequencing, Whole Genome Sequencing Intellectual Disability Related Disorders Download Service information sheet Download Request Form
Legius Syndrome (NFLS, Neurofibromatosis Type 1-like Syndrome) R236 Cancer Genetics Single gene sequencing, MLPA SPRED1 Download Service information sheet Download Request Form
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
LIPIDS - Type III hyperlipidaemia (hyperlipoproteinemia, type III Apoliporprotein E, APOE genotyping Specialist Rare Disease Targeted Testing APOE E2 variant Download Service information sheet 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
MusculoSkeletal - Ehlers-Danlos Syndromes (EDS) Gene Panel  Specialist Rare Disease Medium Panel Ehlers Danlos Syndromes 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
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 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 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
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
Spinal Muscular Atrophy (SMA) Type I / II / III / IV R70 Neurology MLPA or equivalent SMN1 Download Service information sheet Download Request Form
Spinocerebellar Ataxia Type 1 / 2 / 3 / 6 / 7 / 17 (SCA1 / 2 / 3 / 6 / 7 / 17) Neurology STR Testing ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP Download Service information sheet Download Request Form
Systemic Mastocytosis M86.2 Haematology Simple targeted mutation testing cKIT Download Service information sheet Download Request Form
Thyroid (DNA) M9.1, M10.1, M11.1, M12.1 Oncology DNA Panel BRAF, KRAS, NRAS, HRAS RET TP53 Download Service information sheet Download Request Form
Thyroid (RNA) M9.2, M10.2, M11.4, M12.2 Oncology RNA Panel NTRK1, NTRK2, NTRK3, RET, EGFR Download Service information sheet Download Request Form
Tuberous Sclerosis Complex R228 Cancer Genetics DNA NGS panel TSC1, TSC2 Download Service information sheet Download Request Form
Validation of copy number variants using real-time quantitative PCR (qPCR) R240.1, R244.1 Developmental Delay Targeted Mutation Testing Specific Target Download Service information sheet Download Request Form