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Clinical
Laboratory
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’.
Once you have located the desired test, there are 3 download options to the right hand side. The first download icon refers to the service information sheet which contains more detailed particulars of the test including sample requirements and contact information, the second download option provides a link to the request form and the third download option contains any additional useful documentation (where applicable) such as clinical guidance etc.
If you are unable to locate the test you require, or if you have any additional requirements, please contact the service using the contact information found
here
and a member of our team will be happy to assist you.
Where indicated, the tests we provide which are comparable to the test directory are indicated with an ‘R’ or ‘M’ number.
You can find links to the NHS England Test Directory and additional information
here
.
Search
Search
Key:
Service information sheet.
Request Form.
Additional Documentation
Acute Myeloid Leukemia (AML)
All Wales Infants’ and ChildreN’s Genome Service - WINGS
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD)
BRCA1 and BRCA2 on archive tissue
Becker Muscular Dystrophy (BMD) Duchenne Muscular Dystrophy (DMD)
Breast Cancer (FISH)
CDH1-related cancer syndrome (CDH1)
CYmru Service for Genomic Oncology DIagnoses – CYSGODI
Cardiac - Aortopathy (Marfan, Aortopathy and Connective Tissue Disorders - MAC) 23 Gene Panel
Charcot-Marie-Tooth Disease Type 1A (CMT1A Hereditary Motor and Sensory Neuropathy Type 1A, HMSN1A)
Cholangiocarcinoma
Chronic Myeloid Leukemia (CML) Service
Chronic lymphocytic Leukemia (CLL) Service
Colorectal Cancer (Circulating Tumour DNA, ctDNA)
Colorectal Cancer (DNA)
Colorectal Cancer (RNA)
Congenital Malformation Syndromes and/or Dysmorphism Service
Cortical Brain Malformations Panel
DICER1-related cancer predisposition
DPYD pharmacogenomic testing for 5FU chemotherapy
Duchenne Muscular Dystrophy (DMD)
Ectodermal Dysplasia
Endocrinology - FMR1 related premature ovarian failure
Endometrial Cancer
Fanconi Anemia (FA)
Fetal Anomaly Gene Panel (FAGP)
Fragile X (A) syndrome
Fragile X Tremor / Ataxia syndrome
GLIOMA (MGMT promoter hypermethylation)
Gastrointestinal Stromal Tumours (GIST) RNA
Gastrointestinal Stromal Tumours, GIST (DNA)
Glioma (DNA)
Glioma (FISH)
Glioma (RNA)
Haemato-oncology Genetic Analysis
Haemochromatosis (HFE)
Hearing - Non-syndromic Sensorineural Hearing Loss (DFNB1)
Hereditary Breast/Ovarian Cancer
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
Huntington Disease (HD)
Immunology - Complement Component Deficiencies
Immunology - Hereditary Angioedema [HAE] types I, II, III
Immunology - Primary Immunodeficiency Disease [PID] Panel
Intellectual Disability Service
LIPIDS - Familial Hypercholesterolaemia (FH)
LIPIDS - Type III hyperlipidaemia (hyperlipoproteinemia, type III Apoliporprotein E, APOE genotyping
Legius Syndrome (NFLS, Neurofibromatosis Type 1-like Syndrome)
Li Fraumeni syndrome (TP53)
Lymphoma Service
Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC) follow-up
Melanoma (DNA)
MusculoSkeletal - Ehlers-Danlos Syndromes (EDS) Gene Panel
Myeloma Service
Myotonic dystrophy type 1
Myotonic dystrophy type 2 (DM2)
NTRK (FISH)
NTRK (RNA)
Neurofibromatosis type 1 (NF1)
Next Generation Sequencing for Myeloid Malignancies
Non Small Cell Lung Cancer, NSCLC (Circulating Tumour DNA, ctDNA)
Non Small Cell Lung Cancer, NSCLC (DNA)
Non Small Cell Lung Cancer, NSCLC (FISH)
Non small cell lung cancer, NSCLC (RNA)
Non-Invasive Prenatal Testing (NIPT)
Opthamology - Leber Hereditary Optic Neuropathy (LHON)
Ovarian Cancer (blood testing)
Ovarian Cancer (tumour testing)
PTEN hamartoma syndrome (PTEN), Cowden Syndrome
Parkinson’s Disease (PD)
Peutz-Jegher Syndrome
Pilot study – Non-Invasive-Prenatal Testing (NIPT) in pregnancies with fetal anomalies
Polyposis, including Familial Adenomatous Polyposis (FAP, AFAP) and MUTYH-associated Polyposis (MAP)
Postnatal Cytogenetic Analysis
Prenatal Cytogenetic Analysis
Prenatal Service: Abnormal Scan Single Nucleotide Polymorphism Array (SNP Array)
QF-PCR Aneuploidy Screening
Respiratory - Cystic Fibrosis (CF)
Sarcoma
Service
Severe Infantile Epilepsy 116 Gene Panel
Single nucleotide polymorphism (SNP) array Service for Developmental Disorders
Solid Tissue Cytogenetic Analysis
Spinal Muscular Atrophy (SMA) Type I / II / III / IV
Spinocerebellar Ataxia Type 1 / 2 / 3 / 6 / 7 / 17 (SCA1 / 2 / 3 / 6 / 7 / 17)
Systemic Mastocytosis
Thyroid (DNA)
Thyroid (RNA)
Tuberous Sclerosis Complex
Validation of copy number variants using real-time quantitative PCR (qPCR)
Waldenstrom Macroglobulinemia (WM) service / lymphoplasmacytic lymphoma
Code
M2.1, M2.5
R184.1
R77
R73.2
R72.1
R410
R134
R53
R402.2
R215
R213
R216
R364
R341, R368
R95
R68
M1.4, M1.5
R236
M1.1
R42.1
R22
R240.1, R244.1
R14
R70
R401.1, R26, R314.1
NA
R401, R22
R318, R322
M1.2, M1.3
M8.1
M4.1
M4.5
M4.2
M9.1, M10.1, M11.1, M12.1
M80.3, M82.2, M83.1
M80.2, M82.1, M85.1, M89.4
M220.1
M9.2, M10.2, M11.4, M12.2
M8.2
M1.5
R208
M2.1
R228
R222
R211
R212
M215.2
M94.4, M94.7, M94.8
R251.8
M92.2, M92.4, M92.5, M92.8, M92.10, M92.11, M92.12
M104.2
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
M21.21, M23.11, M27.15, M28.8, M29.8, M31.6, M32.5, M33.3, M34.7, M35.8, M36.14
M28.6, M29.5, M31.3, M32.3, M21.6, M23.8, M27.7, M34.4, M35.2, M191.12, M192.12, M193.12
M7.1, M7.2
M4.6, M4.10
M3.2, M3.3, M3.4
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
R386
M27.6, M29.3, M31.1, M191.17, M192.17, M193.17
M21.1, M23.1, M27.1, M29.1, M31.2, M32.1, M33.3, M34.1, M35.1
M80.18, M80.21, M80.22, M80.29, M80.29, M80.41, M80.42, M80.43
R58.3
M84.1, M84.2, M84.3, M84.4
M85.34, M127.1
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
M1.6
R21
R27
R337.1
M86.2
R163
R29
R297, R265, R314, R146
Speciality
Oncology
Specialist Rare Disease
Neurology
Developmental Delay
Cancer Genetics
Haematology
Prenatal
Acutely Unwell Children
Pharmacogenomics
Pathology
Core Rare Disease
Target
BRCA1/2 and/or Genomic Instability
CFTR 8 common Welsh variants, CFTR 50 common European variants
PMP22
Complement component Genes
Cortical Malformation Syndromes
GJB2 sequencing and GJB6 deletions
DMD
DMPK STR
CNBP (ZNF9) STR
Ehlers Danlos Syndromes
Infantile Epilepsy Syndromes
Familial hypercholesterolaemia – targeted panel (772)
FMR1 STR
CDH1
PTEN
TP53
DICER1
SERPING1, F12, PLG, ANGPT1
HFE common variants
HTT STR
MSI or MMR (MLH1, MSH2, MSH6, PMS2) deficiency
SPRED1
Aortopathy and Marfan Syndrome Disorders
KRAS, NRAS, BRAF, PTEN, PIK3CA, TP53, EGFR
Three common LHON variants
PARK2, DJ1, PINK1, LRRK2
Primary Immunodeficiency Disorders
Specific Target
Paediatric Disorders
ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP
SMN1
Genomewide Sex chromosomes
Chromosomes 13, 18 and 21
Genomewide
DPYD
KRAS, NRAS
KIT, PDGFRA
EGFR, ALK, BRAF, KRAS ROS1, RET, ELM4-ALK, NTRK1, NTRK2, NTRK3
EGFR
ALK, ROS1, RET, MET, EGFR, NTRK 1, NTRK 2, NTRK 3
BRAF, KRAS, NRAS, HRAS RET TP53
Detection of Complex karyotype, Monosomal karyotype and structural rearrangements
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
FGFR2
NTRK1, NTRK2, NTRK3, RET, EGFR
NTRK1, NTRK2, NTRK3
BRAF hotspot, MLH1 Promoter hypermethylation
BRCA1, BRCA2, PALB2, PTEN, STK11, TP53
BRCA1, BRCA2
TSC1, TSC2
NF1
APC, MUTYH, BMPR1A, SMAD4, POLD1, POLE
STK11
MLH1 promoter hypermethylation
ATM, TP53
DNA repair defects in the FA genes
TP53, IGH, MAF, CCND1, FGFR3, CDKN2C, CKS1B
MYD88
MYC, BCL2, BCL6, 11q MYC-IGH, MYC-IGK MYC-IGL, IGH-BCL2, IGH-CCND1, P53-CEN17 ALK, IRF4, TP63, DUSP22, TCRB, TCRG, MALT
RET, EGFR, NTRK1,2,3
1p19q
BRAF, KIT, NRAS
ALK, ROS1 (Confirmation of IHC results by prior arrangement)
HER2
PAX3-FOXO1,TFE3, EWSR1, COL1A1-PDGFB, NR4A3, ETV6-NTRK3, TPM4-ALK, TPM3-ALK, EWSR1, DDIT3, MDM2, MYC, FUS, SS18. FOXO1, USP6
MGMT
IDH1, IDH2, BRAF, EGFR, ATRX, H3F3A, TERT, PTEN, TP53, CDKN2A
.CBFB-MYHII, RUNX1-RUNX1T1, FLT3-ITD, FLT3-TKD, NPM1, 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
C9ORF72
BCR-ABL1
APOE E2 variant
Fetal Anomalies Disorders
Congenital Malformation Syndromes and/or Dysmorphism Related Disorders
Whole genome CNV
cKIT
Ectodermal Dysplasia
Intellectual Disability Related Disorders
As determined by indication Genomewide Sex chromosomes
Method
DNA NGS panel or Myriad HRD testing
Targeted Testing
MLPA or equivalent
Small Panel
Large Panel
Single gene sequencing and CNV analysis
STR testing
Medium Panel
DNA NGS Panel
Single gene sequencing >=10 amplicons MLPA, Targeted Mutation Testing
Targeted mutation testing
Microsatellite instability or IHC
Single gene sequencing, MLPA
Single Gene Sequencing, MLPA, Targeted Mutation Testing
Whole Genome Sequencing
Common aneuploidy testing
Massively Parallel Shotgun Sequencing
Common aneuploidy testing Microarray
Simple Targeted Mutation Testing
DNA Panel
Panel Simple targeted mutation testing FISH/Simple targeted mutation testing
Karyotype or equivalent
FISH
RNA Panel
Pyrosequencing
FISH, Single Gene Sequencing
Cytogenetics
FISH, complex targeted mutation testing
DNA panel, simple targeted mutation testing (BRAF Only)
DNA, RNA
DNA, Cytogenetics
RNA
RNA NGS Panel
Whole Exome Sequencing
Whole Genome Sequencing, Whole Exome Sequencing
SNP Array
Whole Exome Sequencing, Whole Genome Sequencing
Karyotype Common aneuploidy testing Microarray
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Service
Code
Speciality
Method
Target
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Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC) follow-up
M1.5
Pathology
Pyrosequencing
BRAF hotspot, MLH1 Promoter hypermethylation
Melanoma (DNA)
M7.1, M7.2
Oncology
DNA panel, simple targeted mutation testing (BRAF Only)
BRAF, KIT, NRAS
MusculoSkeletal - Ehlers-Danlos Syndromes (EDS) Gene Panel
Specialist Rare Disease
Medium Panel
Ehlers Danlos Syndromes
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
Myotonic dystrophy type 1
R72.1
Neurology
STR testing
DMPK STR
Myotonic dystrophy type 2 (DM2)
R410
Neurology
STR testing
CNBP (ZNF9) STR
Neurofibromatosis type 1 (NF1)
R222
Cancer Genetics
DNA NGS panel
NF1
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
Non Small Cell Lung Cancer, NSCLC (Circulating Tumour DNA, ctDNA)
M4.5
Oncology
Simple targeted mutation testing
EGFR
Non Small Cell Lung Cancer, NSCLC (DNA)
M4.1
Oncology
DNA Panel
EGFR, ALK, BRAF, KRAS ROS1, RET, ELM4-ALK, NTRK1, NTRK2, NTRK3
Non Small Cell Lung Cancer, NSCLC (FISH)
M4.6, M4.10
Oncology
FISH
ALK, ROS1 (Confirmation of IHC results by prior arrangement)
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
Non-Invasive Prenatal Testing (NIPT)
NA
Prenatal
Massively Parallel Shotgun Sequencing
Chromosomes 13, 18 and 21
NTRK (FISH)
M85.34, M127.1
Oncology
FISH
NTRK1, NTRK2, NTRK3
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
Opthamology - Leber Hereditary Optic Neuropathy (LHON)
R42.1
Specialist Rare Disease
Targeted mutation testing
Three common LHON variants
Ovarian Cancer (blood testing)
M2.1
Oncology
DNA NGS Panel
BRCA1, BRCA2
Ovarian Cancer (tumour testing)
M2.1, M2.5
Oncology
DNA NGS panel or Myriad HRD testing
BRCA1/2 and/or Genomic Instability
Parkinson’s Disease (PD)
Neurology
Single Gene Sequencing, MLPA, Targeted Mutation Testing
PARK2, DJ1, PINK1, LRRK2
Peutz-Jegher Syndrome
R212
Cancer Genetics
DNA NGS panel
STK11
Pilot study – Non-Invasive-Prenatal Testing (NIPT) in pregnancies with fetal anomalies
Prenatal
Massively Parallel Shotgun Sequencing
Chromosomes 13, 18 and 21
Polyposis, including Familial Adenomatous Polyposis (FAP, AFAP) and MUTYH-associated Polyposis (MAP)
R211
Cancer Genetics
DNA NGS panel
APC, MUTYH, BMPR1A, SMAD4, POLD1, POLE
Postnatal Cytogenetic Analysis
R297, R265, R314, R146
Developmental Delay
Karyotype Common aneuploidy testing Microarray
As determined by indication Genomewide Sex chromosomes
Prenatal Cytogenetic Analysis
R401, R22
Prenatal
Common aneuploidy testing Microarray
Genomewide
Prenatal Service: Abnormal Scan Single Nucleotide Polymorphism Array (SNP Array)
R22
Prenatal
PTEN hamartoma syndrome (PTEN), Cowden Syndrome
R213
Cancer Genetics
DNA NGS Panel
PTEN
QF-PCR Aneuploidy Screening
R401.1, R26, R314.1
Prenatal
Common aneuploidy testing
Genomewide Sex chromosomes
Respiratory - Cystic Fibrosis (CF)
R184.1
Specialist Rare Disease
Targeted Testing
CFTR 8 common Welsh variants, CFTR 50 common European variants
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
Severe Infantile Epilepsy 116 Gene Panel
Neurology
Large Panel
Infantile Epilepsy Syndromes
Single nucleotide polymorphism (SNP) array Service for Developmental Disorders
R337.1
Developmental Delay
SNP Array
Whole genome CNV
Solid Tissue Cytogenetic Analysis
R318, R322
Prenatal
Common aneuploidy testing Microarray
Genomewide
Spinal Muscular Atrophy (SMA) Type I / II / III / IV
R70
Neurology
MLPA or equivalent
SMN1
Spinocerebellar Ataxia Type 1 / 2 / 3 / 6 / 7 / 17 (SCA1 / 2 / 3 / 6 / 7 / 17)
Neurology
STR Testing
ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP
Systemic Mastocytosis
M86.2
Haematology
Simple targeted mutation testing
cKIT
Thyroid (DNA)
M9.1, M10.1, M11.1, M12.1
Oncology
DNA Panel
BRAF, KRAS, NRAS, HRAS RET TP53
Thyroid (RNA)
M9.2, M10.2, M11.4, M12.2
Oncology
RNA Panel
NTRK1, NTRK2, NTRK3, RET, EGFR
Tuberous Sclerosis Complex
R228
Cancer Genetics
DNA NGS panel
TSC1, TSC2
Validation of copy number variants using real-time quantitative PCR (qPCR)
R240.1, R244.1
Developmental Delay
Targeted Mutation Testing
Specific Target
Waldenstrom Macroglobulinemia (WM) service / lymphoplasmacytic lymphoma
M104.2
Haematology
Simple targeted mutation testing
MYD88