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.
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Service R or M Code Speciality Method Target Gene Download
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, Pyrosequencing 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
Waldenstrom Macroglobulinemia (WM) service / lymphoplasmacytic lymphoma M104.2 Haematology Simple targeted mutation testing MYD88 Download Service information sheet Download Request Form
Whole Exome Sequencing for Rare Diseases (WES) R27, R29 Rare Disease Whole Exome Sequencing Download Service information sheet Download Request Form
Whole Genome Sequencing for Rare Diseases (WGS) R27, R29, WINGS/R14 Rare Disease Whole Genome Sequencing Download Service information sheet