You can find information on the genetic tests currently provided by AWMGS below, according to the clinical situation/diagnosis.  
Request forms can be found here.

 

rare genetic 2 haem 2 prenatal 2 pharma tab 3 solid tumour 2 general 2

 
Additional tests are available upon request. Please see the following links:
Download IconNational Genomic Test Directory for rare and inherited disease
 
Download IconRare and Inherited disease eligibility criteria
 
Download IconNational Genomic Test Directory for cancer 

   
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rare
                                          
Amyotrophic Lateral Sclerosis (ALS) ;Frontotemporal Dementia (FTD)         

Aortopathy panel

Hereditary Breast/Ovarian Cancer
 

Cystic Fibrosis (CF)

Charcot-Marie-Tooth Disease Type 1A (CMT1A, Hereditary Motor and Sensory Neuropathy Type 1A, HMSN1A)

Complement Component Deficiencies

 Cortical Brain Malformations Panel

 Non-syndromic Sensorineural Hearing Loss (DFNB1)

Becker Muscular Dystrophy (BMD)
Duchenne Muscular Dystrophy (DMD)

Muscular Dystrophies: Myotonic Dystrophy (DM1)
Proximal Myotonic Myopathy (PROMM / DM2)

Ehlers-Danlos Syndromes (EDS) Gene Panel 

Severe Infantile Epilepsy 116 Gene Panel

Familial Melanoma (R254)

Polyposis: Familial Adenomatous Polyposis (FAP, AFAP)
MUTYH-associated Polyposis (MAP)

Familial Hypercholesterolaemia (FH)

Fragile X (A) syndrome
FMR1 related premature ovarian failure
Fragile X tremor / ataxia syndrome

 
Hereditary Angioedema [HAE]

 Haemochromatosis (HFE)

Huntington Disease (HD)

Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC)

Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)

Intellectual Disability (ID) Gene Panel

Array Comparative Genomic Hybridisation (array CGH) Service for Developmental Delay
(High-resolution chromosome analysis)

Postnatal Cytogenetic Analysis

Solid Tissue Cytogenetic Analysis

Legius Syndrome (NFLS, Neurofibromatosis Type 1-like Syndrome)

Lynch Syndrome testing of Colorectal Cancer

Neurofibromatosis Type 1 (NF1)

Next Generation Sequencing of Colorectal Cancers 

X-linked Nephrogenic Diabetes Insipidus (NDI1)
Nephrogenic Diabetes Insipidus (NDI2)

Optic Atrophy: Dominant Optic Atrophy
Optic Atrophy 3 with cataract
Leber Hereditary Optic Neuropathy (LHON)

Parkinson’s Disease (PD)

 Primary Immunodeficiency Disease [PID] Panel

Porphyrias Acute Intermittent Porphyria (AIP)
Variegate Porphyria (VP) Hereditary Coproporphyria (HCP)
Erythropoietic Protoporphyria (EPP)
X-linked Erythropoietic Protoporphyria (XLEPP)
Congenital Erythropoietic Porphyria (CEP)
Porphyria Cutanea Tarda (PCT)
Porphyrias Acute Intermittent Porphyria (AIP)
Variegate Porphyria (VP)
Hereditary Coproporphyria (HCP)
Erythropoietic Protoporphyria (EPP)
X-linked Erythropoietic Protoporphyria (XLEPP)
Congenital Erythropoietic Porphyria (CEP); Porphyria Cutanea Tarda (PCT)

Prenatal Service: Abnormal Scan Array Comparative Genomic Hybridisation (array CGH)

 Validation of copy number variants using real-time quantitative PCR (qPCR)
All Wales Infants’ and ChildreN’s Genome Service - WINGS

Spinocerebellar Ataxia Type 1 / 2 / 3 / 6 / 7 / 17 (SCA1 / 2 / 3 / 6 / 7 / 17)cerebellar Ataxia Type 1 / 2 / 3 / 6 / 7 / 17 (SCA1 / 2 / 3 / 6 / 7 / 17)

Spinal Muscular Atrophy (SMA) Type I / II / III / IV

Tuberous Sclerosis Complex Type 1/2 (TSC1/2)

 
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haem mal 1

 blood

Haemato-oncology Genetic Analysis

Next Generation Sequencing for Myeloid Malignancies

 

 Back to top

 

 

 
Referral criteria and sample requirements for NIPD testing

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ph 1
 

 

You can find information on the genetic tests currently provided by AWMGS below, according to the clinical situation/diagnosis.  
Request forms can be found here.

 

rare genetic 2 haem 2 prenatal 2 pharma tab 3 solid tumour 2 general 2

 
Additional tests are available upon request. Please see the following links:
Download IconNational Genomic Test Directory for rare and inherited disease
 
Download IconRare and Inherited disease eligibility criteria
 
Download IconNational Genomic Test Directory for cancer 

   
rare gen dis 1
rare
                                          
Amyotrophic Lateral Sclerosis (ALS) ;Frontotemporal Dementia (FTD)         

Aortopathy panel

Hereditary Breast/Ovarian Cancer
 

Cystic Fibrosis (CF)

Charcot-Marie-Tooth Disease Type 1A (CMT1A, Hereditary Motor and Sensory Neuropathy Type 1A, HMSN1A)

Complement Component Deficiencies

 Cortical Brain Malformations Panel

 Non-syndromic Sensorineural Hearing Loss (DFNB1)

Becker Muscular Dystrophy (BMD)
Duchenne Muscular Dystrophy (DMD)

Muscular Dystrophies: Myotonic Dystrophy (DM1)
Proximal Myotonic Myopathy (PROMM / DM2)

Ehlers-Danlos Syndromes (EDS) Gene Panel 

Severe Infantile Epilepsy 116 Gene Panel

Familial Melanoma (R254)

Polyposis: Familial Adenomatous Polyposis (FAP, AFAP)
MUTYH-associated Polyposis (MAP)

Familial Hypercholesterolaemia (FH)

Fragile X (A) syndrome
FMR1 related premature ovarian failure
Fragile X tremor / ataxia syndrome

 
Hereditary Angioedema [HAE]

 Haemochromatosis (HFE)

Huntington Disease (HD)

Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC)

Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)

Intellectual Disability (ID) Gene Panel

Array Comparative Genomic Hybridisation (array CGH) Service for Developmental Delay
(High-resolution chromosome analysis)

Postnatal Cytogenetic Analysis

Solid Tissue Cytogenetic Analysis

Legius Syndrome (NFLS, Neurofibromatosis Type 1-like Syndrome)

Lynch Syndrome testing of Colorectal Cancer

Neurofibromatosis Type 1 (NF1)

Next Generation Sequencing of Colorectal Cancers 

X-linked Nephrogenic Diabetes Insipidus (NDI1)
Nephrogenic Diabetes Insipidus (NDI2)

Optic Atrophy: Dominant Optic Atrophy
Optic Atrophy 3 with cataract
Leber Hereditary Optic Neuropathy (LHON)

Parkinson’s Disease (PD)

 Primary Immunodeficiency Disease [PID] Panel

Porphyrias Acute Intermittent Porphyria (AIP)
Variegate Porphyria (VP) Hereditary Coproporphyria (HCP)
Erythropoietic Protoporphyria (EPP)
X-linked Erythropoietic Protoporphyria (XLEPP)
Congenital Erythropoietic Porphyria (CEP)
Porphyria Cutanea Tarda (PCT)
Porphyrias Acute Intermittent Porphyria (AIP)
Variegate Porphyria (VP)
Hereditary Coproporphyria (HCP)
Erythropoietic Protoporphyria (EPP)
X-linked Erythropoietic Protoporphyria (XLEPP)
Congenital Erythropoietic Porphyria (CEP); Porphyria Cutanea Tarda (PCT)

Prenatal Service: Abnormal Scan Array Comparative Genomic Hybridisation (array CGH)

 Validation of copy number variants using real-time quantitative PCR (qPCR)
All Wales Infants’ and ChildreN’s Genome Service - WINGS

Spinocerebellar Ataxia Type 1 / 2 / 3 / 6 / 7 / 17 (SCA1 / 2 / 3 / 6 / 7 / 17)cerebellar Ataxia Type 1 / 2 / 3 / 6 / 7 / 17 (SCA1 / 2 / 3 / 6 / 7 / 17)

Spinal Muscular Atrophy (SMA) Type I / II / III / IV

Tuberous Sclerosis Complex Type 1/2 (TSC1/2)

 
Back to top 

 

haem mal 1

 blood

Haemato-oncology Genetic Analysis

Next Generation Sequencing for Myeloid Malignancies

 

 Back to top

 

 

 
Referral criteria and sample requirements for NIPD testing

Back to top

 

ph 1
 

DPYD

Germline testing on blood samples is available for Welsh cancer patients being treated with common fluoropyrimidine based chemotherapies, 5-fluoruracil and/or capecitabine. A PCR test is performed to identify variants in the dihydropyrimidine dehydrogenase (DPYD) gene that increase a patient’s risk of severe or fatal toxicity to fluoropyrimidine based chemotherapies.
For details about this test please see the DPYD  information sheet.
To order the test use this referral form.

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AWMGS provide a range of Next Generation Sequencing (NGS), FISH, ctDNA and PCR based services for solid tumours.
To find out more please see our Precision Medicine Service information or below for the range of genetic tests available for individual tumours.
 

Colorectal Cancer (CRC)

Colorectal cancer (CRC) refers to cancer in the bowel and rectum. It is the 4th most common cancer in Wales, with 2,200 people being diagnosed every year.
We provide the following genetic testing for CRC patients in Wales:
DNA based NGS analysis of KRAS, NRAS, BRAF, EGFR, PIK3CA, PTEN. For details about this test please see the DNA NGS CRC information sheet.
To order the test use this referral form indicating Colorectal DNA-based NGS.

Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC) testing via PCR analysis. Lynch syndrome is a rare condition but is the most common cause of hereditary bowel cancer. There are a number of steps in the testing process dependent on the quality of the sample received, the outcomes of the different tests carried out during the diagnostic pathway and family history.
For further details please see Lynch syndrome testing of colorectal cancer and Lynch syndrome / HNPCC information sheet.  To order Microsatellite Instability (MSI) testing use this referral form or the BRAF/ MLH1 Follow-up Test form.

Circulating Tumour DNA (ctDNA) analysis of RAS enables AWMGS a new opportunity to improve the stratification of CRC patients for treatment. ctDNA is shed into the patient’s blood stream from the tumour presenting a viable alternative to an invasive procedure for molecular analysis for RAS mutations.
For details about this test please see the ctDNA RAS CRC information sheet. To order this test use this ctDNA RAS referral form.
 

Gastrointestinal Stromal Tumours (GIST)

GISTS are a rare type of sarcoma (cancer of the connective tissue) and can be found anywhere in the digestive system. AWMGS provide NGS DNA based testing for GIST patients analysing KIT and PDGFRA gene changes to enable access to targeted TKI drug therapies.
For details about this test please see the GIST information sheet. To order the test use this referral form indicating: GIST; DNA-based NGS.
 

Gliomas

Glioma are classified by location, cell type and grade, and represent the most common group of primary brain tumours in adults and children. Molecular analysis is used alongside histopathological evaluation to characterise tumours, assisting diagnosis as well as providing information about prognosis and treatment options. AWMGS offer the following services for Glioma patients in Wales:
A multi-gene DNA based NGS panel alongside 1p/19q FISH and MGMT methylation assay.
For details please see the Glioma service information sheet. To order the test use this referral form indicating: Glioma; DNA-based NGS; 1p/19q FISH; MGMT methylation.

RNA based NGS analysis for gene fusions within the NTRK1, 2, 3 genes for patients that meet NTRK testing eligibility criteria and may be eligible for the two tumour agnostic drugs Larotrectiniba and Entrectinibb.
For details please see the NTRK service information sheet. To order the test use this referral form indicating: Glioma; RNA-based NGS.

 

Metastatic Melanomas

Melanoma is a type of skin cancer and one of the commonest forms of cancer in the UK. Genetic testing of melanomas informs diagnosis, prognosis and treatment options. AWMGS provide NGS DNA based testing for metastatic melanoma patients.
For details about this test please see the Melanoma information sheet. To order the test use this referral form indicating: Melanoma; DNA-based NGS.
 

Ovarian Cancer

Treatment selection for high grade serous ovarian cancer can be influenced by the presence of a pathogenic variant in the BRCA1 or BRCA2 genes in the germline (assessed by testing a blood sample) or in the tumour only (assessed by testing a tumour sample).
For further details please see the BRCA information sheet.
To order this test please use this referral form.

Lung

Lung cancer is the leading cause of cancer death worldwide. There are two main types: small cell and non-small cell (NSCLC). The majority of patients (85%) have NSCLC. AWMGS provide the following genetic testing for NSCLC patients:
DNA based NGS analysis of BRAF, CDKN2A, EGFR, ERBB2, KRAS, NRAS, PIK3CA and PTEN.
For details about this test please see the DNA NGS NSCLC information sheet. To order the test use this referral form indicating NSCLC DNA-based NGS.

Circulating Tumour DNA (ctDNA) analysis of EGFR enables AWMGS a new opportunity to improve the stratification of NSCLC patients for treatment. ctDNA is shed into the patient’s blood stream from the tumour presenting a viable alternative to an invasive procedure for molecular analysis for EGFR mutations.
For details about this test please see the ctDNA EGFR NSCLC information sheet. To order this test use this ctDNA EGFR referral form.

RNA based NGS analysis of ALK, EGFR, MET, NTRK1, NTRK2, NTRK3, RET and ROS1.
For details please see the RNA based NGS information sheet. To order the test use this referral form indicating: lung; RNA-based NGS.
Please note that this service operates a salvage FISH testing pathway for samples where RNA extraction fails to provide the quantity or quality required for this NGS test.
Further details are included in the RNA based NGS information sheet and in this FAQ.
 

Thyroid

Thyroid cancer is a rare cancer, affecting the thyroid gland (a small gland at the base of the neck). There are around 135 new diagnosis of thyroid and endocrine cancers every year in Wales. AWMGS provide NGS DNA based testing for Thyroid patients analysing BRAF, HRAS, KRAS, NRAS, TP53 and RET gene changes.
For details about this test please see the Thyroid information sheet. To order the test use this referral form indicating: Thyroid; DNA-based NGS.
 
 

NTRK gene fusion testing for solid tumours

 

NTRK gene fusion testing has been available in Wales since October 2020, implemented in a phased approach. NTRK testing is now available to all patients with a diagnosis of any solid tumour type (please see NTRK clinical guidance) who are eligible for Larotrectinib or Entrectinib.  How your patient’s sample is tested will depend on their tumour location. The following tumour sites will be tested via RNA-NGS:
Infantile fibrosarcoma
Congenital mesoblastic nephroma
Mammary analogue secretory carcinoma (MASC) of salivary glands
Secretory breast cancer
Gastrointestinal stromal tumours (GISTs)
Thyroid cancer
Gliomas
Spitzoid neoplasms
Lung cancer
Intrahepatic cholangiocarcinoma
Children and young people aged 0-25 years with any solid tumour Young adults 18-25 years with any solid tumour
 
For all other tumour types, NTRK gene fusion testing is provided via FISH analysis. This is for patients who are at the point of eligibility for Larotrectinib or Entrectinib. FISH-based NTRK testing is ordered via the FISH NTRK referral form.
 
RNA-based NGS testing is now routinely used to detect of gene fusions in cancer patients in Wales alongside the existing DNA-based NGS analysis. This new service provides additional genetic information to clinicians to aid diagnosis, prognosis and treatment planning and encompasses the clinically relevant detection of: NTRK1, NTRK2, NTRK3 across multiple tumour types; ALK and ROS1 gene fusion detection in lung cancers; RET fusion and EGFRvIII detection in thyroid cancer; and detection of EGFRvIII and BRAF gene fusions in glioma. 
Please see the RNA-NGS service information sheet and the FAQs about the RNA-based NGS service at AWMGS for further information.
To order this test please use the RNA-NGS referral form.