External Quality Assessment (EQA) Schemes Catalogue

Four sets of 8 patient-like swab-based materials designed to help implement and verify POCT devices for CYP2C19 testing. See https://www.emqn.org/our-eqa-schemes/poct/ for more information.

Five sets of 8 patient-like swab-based materials designed to help implement and verify POCT devices for CYP2C19 testing. See https://www.emqn.org/our-eqa-schemes/poct/ for more information.

One set of 8 patient-like swab-based materials designed to help implement and verify POCT devices for MT-RNR1 testing. See https://www.emqn.org/our-eqa-schemes/poct/ for more information.

Two sets of 8 patient-like swab-based materials designed to help implement and verify POCT devices for MT-RNR1 testing. See https://www.emqn.org/our-eqa-schemes/poct/ for more information.

Three sets of 8 patient-like swab-based materials designed to help implement and verify POCT devices for MT-RNR1 testing. See https://www.emqn.org/our-eqa-schemes/poct/ for more information.

Four sets of 8 patient-like swab-based materials designed to help implement and verify POCT devices for MT-RNR1 testing. See https://www.emqn.org/our-eqa-schemes/poct/ for more information.

Five sets of 8 patient-like swab-based materials designed to help implement and verify POCT devices for MT-RNR1 testing. See https://www.emqn.org/our-eqa-schemes/poct/ for more information.

LDLR, APOB, APOE and PCSK9 testing for patients with familial autosomal dominant hypercholesterolemia and familial cases.

SHOX testing for familial SHOX related disorders (Germline DNA).

FMR1 gene testing for Fragile X Syndrome (FRAX) (Germline DNA).

FXN gene testing for Friedreich’s Ataxia (FRDA) (Germline DNA)

Fusion gene testing for fusions relevant to therapy (ALK, ROS1, RET, NTRK1, NTRK2, NTRK3, FGFR1, FGFR2, or FGFR3) for solid cancers (FFPE)

TTR gene testing for Hereditary Amyloidosis (germline DNA testing) and optional testing for other Hereditary Amyloidosis genes

BRCA1/BRCA2 or panel testing for hereditary breast and ovarian cancer (HBOC) (Germline DNA), this EQA has options for targeted or panel testing

PKD1 / PKD2 and panel testing for patients with Hereditary Cystic Kidney Disease. This EQA has options for targeted testing and panel testing (germline DNA testing).

Testing for hereditary endocrine cancer. This EQA has options for targeted MEN2 (RET) testing or gene panel testing.

HFE testing for Hereditary Haemochromatosis (Germline DNA)

Testing for Hereditary Hearing Loss. This EQA has options for panel testing and targeted DFNB1 (GJB2 and GJB6) testing

Testing for Hereditary Renal / Kidney Cancer. This EQA has options for targeted VHL testing or gene panel testing of hereditary renal cancer disorders (Germline DNA).

HRD testing for Ovarian Cancer (Tissue). This EQA is sponsored.

HTT gene testing for Huntington disease (HD) (Germline DNA)

Panel testing for isolated and syndromic Inherited Retinal Disorders (IRD) (Germline DNA). Includes one case involving a gene related to an approved/in trial therapy, and option for RPGR ORF15 testing.

EGFR and KRAS testing of cfDNA (plasma) for NSCLC. This EQA is sponsored.

This EQA has two modules: COMMON BIOMARKERS (mandatory to participate in this EQA) and NEW & EMERGING BIOMARKERS (optional to participate in this EQA) both using FFPE to test.

MSH2, MLH1, MSH6, EPCAM and PMS2 testing for patients with Lynch syndrome (hereditary non-polyposis colon cancer, HNPCC) and familial cases.

BRAF, NRAS and KIT gene testing in melanoma (FFPE).

Microsatellite Instability testing testing (FFPE) for solid tumours (e.g. colorectal cancer and endometrial cancer).

Testing for variants in the mitochondrial genome for the following mitochondrial disorders: MELAS, NARP, LHON, MERRF, Leigh syndrome, and Pearson syndrome.

GCK, HNF1A, HNF1B and HNF4A testing for Mongenic Diabetes (germline DNA)

Point-of-care molecular testing (POCT) of MT-RNR1 for avoidance of aminoglyocside induced hearling loss in neonates (Artificial Buccal swabs)

DMPK and CNBP gene testing for Myotonic Dystrophy (DM) (Types 1 and/or 2) (Germline DNA). This EQA has options for targeted or panel testing.

Dystrophin gene and panel testing for Rare Neuromuscular Disorders (NMD) (germline DNA). This EQA has options for targeted DMD / BMD testing and/or NMD panel testing.

EQA for quality of NGS for CNVs >50bp (Germline DNA). For whole exome or genome sequencing. Pilot EQA Scheme.

EQA for quality of NGS for SNVs and indels <50bp (Germline DNA). For any NGS strategy (single gene, panel testing, whole exome sequencing or whole genome sequencing).

EQA for quality of NGS for somatic SNVs and indels <50bp (FFPE). For NGS NOT requiring a matched normal control germline sample (single gene, panel testing, whole exome sequencing or whole genome sequencing). Pilot EQA.

EQA for quality of NGS for somatic SNVs and indels <50bp (FFPE). For NGS requiring a matched normal control germline sample (single gene, panel testing, whole exome sequencing or whole genome sequencing). Pilot EQA.

NIPT for common aneuploidies (including sex chromosomes) (plasma).

NIPT for fetal sexing (X-linked disorders) (plasma).

This EQA scheme is offered to help laboratories using high through put technologies (e.g., NGS, MassArray etc.) to accurately validate assay sensitivity and specificity. For specific tumour types, please register for the relevant scheme (e.g., Lung, Melanoma, Colorectal, Ovarian, Breast, Prostate, Pancreas). High quality reference materials are provided covering a range of genes with variants with ddPCR quantified allelic frequencies.

BRCA1, BRCA2 and HRR testing for Ovarian and Prostate cancer in the context of PARP inhibitor prescription (FFPE). This EQA is sponsored.

BRCA1 and BRCA2 testing for Ovarian, Breast, prostate and pancreatic cancer (Germline DNA) in the context of PARP inhibitor prescription. This EQA is sponsored.

DPYD and UGT1A1 pharmacogenetic testing for drug response and efficacy (Germline DNA).

Pharmacogenetic panel testing of markers for drug response and efficacy (Germline DNA).

PAH testing for Phenylketonuria (PKU) (Germline DNA)

APC and MUTYH testing for patients with disorders associated with polyposis (Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP)) and familial cases. Virtual case targeting broader genes associated with polyposis.

Molecular genetic testing for patients with porphyria and familial cases (group of eight disorders of the heme biosynthesis pathway, as defined by Ipnet).

Postnatal Constitutional CNV Detection using array based, or NGS approaches (Germline DNA).

Methylation and copy number analysis for Prader-Willi and Angelman Syndromes (PW / AS) (Germline DNA)

BRCA1 and BRCA2 testing in cfDNA (plasma) for Prostate Cancer in the context of PARP inhibitor prescription. This EQA is sponsored.

NGS gene panel testing for Rare Neurological Diseases (Germline DNA) (including targeted panel testing/ virtual panel /clinical exome / WES / WGS)

RB1 testing for patients with retinoblastoma and familial cases.

RYR1 testing for RYR1 related Myopathies and Malignant Hyperthermia susceptibility (Germline DNA)

EQA for quality of Sanger sequencing (PCR products and primers provided)

Gene panel testing for Severe Combined Immunodeficiencies (SCID) and Inborn Errors of Immunity (including targeted panel testing /clinical exome / WES / WGS / Sanger) (Germline DNA).

Gene panel testing for patients affected with a form of skeletal dysplasia. This EQA now includes Osteogenesis Imperfecta.

SMN1/SMN2 copy number testing for patients with spinal muscular atrophy.

Testing for Spinocerebellar Ataxias (SCA) (Germline DNA).

Collagen gene (COL2A1, COL11A1, COL11A2, COL9A1, COL9A2) testing for patients with Stickler syndrome and familial cases.

Testing for related genes (ADA2, NOD2, MVK or MEFV) for Systemic Autoinflammatory Diseases (Germline DNA)

FGFR3 testing (SNVs and gene fusions) in Urothelial / Bladder cancer (FFPE). This EQA is sponsored.

ATP7B testing for Wilson Disease (Germline DNA)

Y-Chromosome Microdeletion testing for patients with male infertility.