Catalog - EMQN

Genomic and Inherited Disorders

Autosomal Dominant Polycystic Kidney Disease (ADPKD) and optional gene panel testing for hereditary cystic kidney disease

Product Code: ADPKD-25

From £445.00

Deadline to order: 30/11/2025

Applicable to all labs undertaking molecular genetic testing for this disorder.

Language: English, German
Accredited: Yes
Technologies: CNV, MLPA, NGS, Panel testing, Sanger sequencing, Single gene testing
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Beckwith-Wiedemann and Silver-Russell syndromes (BWS/SRS)

Product Code: BWS/SRS-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular genetic testing for these syndromes

Language: English, German
Accredited: Yes
Technologies: Methylation, MLPA
Sample Types: DNA in TE Buffer

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Individual Competence Assessment

BRCA and HRR gene variants Competency Module

Product Code: BRCA(VARIANT_INTERPRETATION)-25

Free

Deadline to order: N/A

This scheme is an online competency assessment for the classification of breast cancer (BRCA) and homologous recombination repair (HRR) genes

This scheme is applicable to all individuals who classify the pathogenicity of BRCA (BRCA1 and BRCA2) and other HRR gene (PALB2, ATM, RAD15C and CHEK2) variants.

Registration for the next run will be advertised in Autumn 2024. There are two runs per year (autumn and spring) comprising online competency assessment and access to educational webinars by international experts. Delivered in conjunction with GenQA.

Language: Not applicable
Accredited: No
Technologies: Not applicable
Sample Types: Online virtual cases

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Molecular Pathology

Breast cancer (AKT pathway gene testing (PIK3CA, AKT1, PTEN) [Tissue]

Product Code: AKT-25

From £285.00

Registration closed: 28/02/2025

Applicable to labs undertaking molecular testing of the PIK3CA, AKT1 and PTEN genes in this type of cancer.

Language: English
Accredited: Yes
Technologies: Any molecular test, CNV, MLPA, NGS, Panel testing, PCR based, Sanger sequencing, Single gene testing, Targeted testing
Sample Types: FFPE artificial materials

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Molecular Pathology

Breast cancer (ESR1 cfDNA testing) [Plasma]

Product Code: BREAST(ESR1)[Plasma]-25

From £285.00

Registration closed: 28/02/2025

Applicable to labs undertaking molecular testing of the ESR1 gene in cfDNA

Language: English
Accredited: No
Technologies: Any molecular test
Sample Types: artificial plasma, cfDNA, ctDNA

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Genomic and Inherited Disorders

Cardiac Genetics Gene Panel: Arrhythmias

Product Code: CARDIAC(ARR)-25

From £445.00

Registration closed: 30/11/2024

Applicable to labs that undertake NGS-based testing for this group of disorders (including targeted panel testing/ virtual panel /clinical exome / WES / WGS)

Language: English, French
Accredited: Yes
Technologies: Any molecular test, CNV, MLPA, NGS, Panel testing, PCR based, Sanger sequencing
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Cardiac Genetics Gene Panel: Hypertrophic Cardiomyopathies

Product Code: CARDIAC(HCM)-25

From £445.00

Registration closed: 30/11/2024

Applicable to labs that undertake NGS-based testing for this group of disorders (including targeted panel testing/ virtual panel /clinical exome / WES / WGS)

Language: English
Accredited: Yes
Technologies: Any molecular test, CNV, MLPA, NGS, Panel testing, PCR based, Sanger sequencing
Sample Types: DNA in TE Buffer

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Pre-analytical processes

cfDNA extraction from plasma (Round 1)

Product Code: cfDNAEXTRACTION(25-01)

Free

Registration closed: 28/02/2025

Applicable for all labs extracting cfDNA from plasma. Two rounds of EQA per year – purchase each separately.
This EQA will be distributed in MARCH 2025.

Language: English
Accredited: No
Technologies: DNA extraction
Sample Types: artificial plasma, cfDNA

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Pre-analytical processes

cfDNA extraction from plasma (Round 2)

Product Code: cfDNAEXTRACTION(25-02)

Free

Registration closed: 31/03/2025

Applicable for all labs extracting cfDNA from plasma. Two rounds of EQA per year – purchase each separately.
This EQA will be distributed in SEPTEMBER 2025.

Language: English
Accredited: No
Technologies: DNA extraction
Sample Types: artificial plasma, cfDNA

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Genomic and Inherited Disorders

Charcot-Marie-Tooth disease / Hereditary Neuropathy with liability for Pressure Palsies (CMT/HNPP) (PMP22 and optional gene panel testing for other CMT-associated genes).

Product Code: CMT/HNPP-25

From £445.00

Deadline to order: 30/11/2025

Applicable to all labs undertaking molecular genetic testing for these disorders.

Language: English, German
Accredited: Yes
Technologies: Any molecular test, CNV, MLPA, NGS, Panel testing, Sanger sequencing
Sample Types: DNA in TE Buffer

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Molecular Pathology

Colorectal cancer [Tissue]

Product Code: COLORECTAL-25

From £630.00

Registration closed: 28/02/2025

Applicable to all labs undertaking molecular testing for this cancer using FFPE tissue.

Language: English
Accredited: Yes
Technologies: Any molecular test
Sample Types: FFPE real human tumour tissue and artificial materials

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Genomic and Inherited Disorders

Congenital Adrenal Hyperplasia (CAH)

Product Code: CAH-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular genetic testing for this disorder.

Language: English, German
Accredited: Yes
Technologies: CNV, MLPA, NGS, PCR based, Sanger sequencing, Southern blotting
Sample Types: DNA in TE Buffer

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Sequencing (NGS and Sanger)

DNA SEQUENCING – NGS (Germline SNVs and indels)

Product Code: NGS(vGERMLINE)-25

From £715.00

Registration closed: 28/02/2025

Applicable to any labs using NGS as part of their germline testing process.

Language: Not applicable
Accredited: Yes
Technologies: NGS, Panel testing, Targeted testing, Whole exome sequencing, Whole genome analysis CNV, Whole genome sequencing
Sample Types: DNA in TE Buffer

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Sequencing (NGS and Sanger)

DNA SEQUENCING – NGS (Germline) CNV testing

Product Code: NGS(vGERMLINE)[CNV]-25

From £505.00

Registration closed: 30/03/2025

Applicable to any labs using NGS as part of their germline CNV testing process. Pilot EQA Scheme.

Language: Not applicable
Accredited: No
Technologies: NGS, Panel testing, Targeted testing, Whole exome sequencing, Whole genome analysis CNV, Whole genome sequencing
Sample Types: DNA in TE Buffer

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Sequencing (NGS and Sanger)

DNA SEQUENCING – NGS (Somatic SNVs and Indels – no matched germline sample)

Product Code: NGS(vSOMATIC)-25

From £715.00

Registration closed: 28/02/2025

Applicable to any labs using NGS (not requiring a matched normal control sample) as part of their somatic testing process. This is a pilot EQA.

Language: Not applicable
Accredited: No
Technologies: Genomic, NGS, Panel testing, Single gene testing, Targeted testing, Whole exome sequencing, Whole genome sequencing
Sample Types: gDNA from FFPE or fresh frozen sample

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Sequencing (NGS and Sanger)

DNA SEQUENCING – NGS (Somatic SNVs and indels + matched germline sample)

Product Code: NGS(vSOMATICMATCHED)-25

From £1115.00

Registration closed: 28/02/2025

Applicable to any lab using requiring a matched normal control germline sample as part of their somatic NGS testing process. Pilot EQA.

Language: Not applicable
Accredited: No
Technologies: NGS, Whole exome sequencing, Whole genome sequencing
Sample Types: gDNA from FFPE or fresh frozen sample

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Sequencing (NGS and Sanger)

DNA SEQUENCING – SANGER

Product Code: SANGER-25

From £455.00

Registration closed: 28/02/2025

Applicable to any labs using Sanger sequencing as part of their testing process.

Language: Not applicable
Accredited: Yes
Technologies: Sanger sequencing
Sample Types: PCR product from g.DNA

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Genomic and Inherited Disorders

Duchenne / Becker Muscular Dystrophy (DMD / BMD) and optional gene panel testing for muscular dystrophies / hereditary myopathies

Product Code: DMD-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular genetic testing for these disorders.

Language: Dutch, English, German
Accredited: Yes
Technologies: Any molecular test, CNV, MLPA, PCR based
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Familial autosomal dominant hypercholesterolemia (FH)

Product Code: FH-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular genetic testing for this disorder.

Language: English, French, German, Spanish
Accredited: Yes
Technologies: CNV, MLPA, NGS, Panel testing, PCR based, Sanger sequencing, Single gene testing, Targeted testing
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Familial SHOX gene related disorders

Product Code: SHOX-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular testing for familial SHOX related disorders.

Language: English, German
Accredited: Yes
Technologies: CNV, MLPA, NGS, PCR based, Sanger sequencing, Single gene testing, Targeted testing
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Fragile X Syndrome (FRAX)

Product Code: FRAX-25

From £445.00

Deadline to order: 30/11/2025

Applicable to all labs undertaking molecular genetic testing for this syndrome (including those which cannot detect the ENTIRE range of expansions +/- methylation patterns).

Language: English, French, German
Accredited: Yes
Technologies: CCG repeat, Methylation, PCR based, Southern blotting
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Friedreich Ataxia (FRDA)

Product Code: FRDA-25

From £445.00

Deadline to order: 30/11/2025

Applicable to all labs undertaking molecular genetic testing for this disorder.

Language: English, French, German
Accredited: Yes
Technologies: PCR based, Southern blotting
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Hereditary Amyloidosis

Product Code: AMYLOIDOSIS-25

From £445.00

Deadline to order: 30/11/2025

Applicable to labs that undertake molecular genetic testing for this group of disorders

Language: English
Accredited: No
Technologies: Any molecular test, NGS, Panel testing, PCR based, Sanger sequencing, Single gene testing, Targeted testing, Whole exome sequencing, Whole genome sequencing
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Hereditary Breast / Ovarian cancer (HBOC) (germline)

Product Code: HBOC-25

From £445.00

Registration closed: 30/11/2024

Applicable to labs that undertake germline testing for this group of disorders

Language: English, French, German, Italian, Spanish
Accredited: Yes
Technologies: CNV, MLPA, NGS, Panel testing, Sanger sequencing
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Hereditary Haemochromatosis (HFE)

Product Code: HFE-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular genetic testing for this disorder.

Language: English, German
Accredited: Yes
Technologies: Any molecular test, NGS, Panel testing, PCR based, Sanger sequencing, Single gene testing, Targeted testing
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Hereditary Hearing Loss

Product Code: HHL-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular genetic testing for this disorder.

Language: English, French, German
Accredited: Yes
Technologies: Any molecular test, CNV, MLPA, NGS, Panel testing, Sanger sequencing, Single gene testing
Sample Types: DNA in TE Buffer

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Molecular Pathology

Homologous Recombination Deficiency (HRD) testing in ovarian cancer [Tissue]

Product Code: HRD-25

From £285.00

Registration closed: 28/02/2025

Applicable to all labs undertaking molecular genetic testing for HRD in solid tumours.

Language: English
Accredited: No
Technologies: Any molecular test, CNV, MLPA, NGS, Panel testing, Sanger sequencing
Sample Types: FFPE real human tumour tissue and artificial materials

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Genomic and Inherited Disorders

Huntington disease (HD)

Product Code: HD-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular genetics testing for this disorder.

Language: Dutch, English, German
Accredited: Yes
Technologies: CAG repeat, PCR based
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Inherited Retinal Disorders (IRD)

Product Code: IRD-25

From £445.00

Registration closed: 28/02/2025

Applicable to all labs undertaking molecular genetic testing for syndromic and non-syndromic IRD.

Language: English
Accredited: No
Technologies: Any molecular test
Sample Types: DNA in TE Buffer

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Molecular Pathology

Lung Cancer (NSCLC) [Plasma]

Product Code: LUNG(NSCLC)[Plasma]-25

From £285.00

Registration closed: 28/02/2025

Applicable for all labs undertaking molecular testing of cfDNA in plasma for EGFR and KRAS gene variants in NSCLC.

Language: English
Accredited: Yes
Technologies: Any molecular test
Sample Types: artificial plasma, cfDNA, ctDNA

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Molecular Pathology

Lung cancer (NSCLC) [Tissue]

Product Code: LUNG(NSCLC)[Tissue]-25

From £285.00

Registration closed: 28/02/2025

Applicable to all labs undertaking molecular testing for this cancer type using FFPE tissue.
It is MANDATORY to participate in this EQA scheme for the COMMON BIOMARKERS option, you must also select an item from the Lung New and Emerging biomarkers options. if you do not want to participate select “I do not wish to purchase Lung New and Emerging”

Language: English, Italian, Spanish
Accredited: Yes
Technologies: Any molecular test
Sample Types: FFPE real human tumour tissue and artificial materials

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Genomic and Inherited Disorders

Lynch syndrome (hereditary non-polyposis colon cancer, HNPCC)

Product Code: LYNCH-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular genetic testing for this hereditary cancer type.

Language: English, French, German
Accredited: Yes
Technologies: Any molecular test, CNV, MLPA, NGS, Panel testing, PCR based, Sanger sequencing
Sample Types: DNA in TE Buffer

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Molecular Pathology

Melanoma [Tissue]

Product Code: MELANOMA-25

From £630.00

Registration closed: 28/02/2025

Applicable to all labs undertaking molecular testing in this cancer type.

Language: English
Accredited: Yes
Technologies: Any molecular test
Sample Types: FFPE real human tumour tissue and artificial materials

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Molecular Pathology

Microsatellite Instability testing

Product Code: MSI-25

From £455.00

Registration closed: 28/02/2025

Applicable for all labs undertaking Microsatellite Instability testing (MSI).

Language: English
Accredited: Yes
Technologies: Any molecular test
Sample Types: FFPE real human tumour tissue and artificial materials

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Genomic and Inherited Disorders

Mitochondrial DNA disorders

Product Code: mtDNA-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular genetic testing for this group of mitochondrial disorders

Language: English
Accredited: Yes
Technologies: CNV, MLPA, NGS, PCR based, Sanger sequencing
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Monogenic Diabetes

Product Code: MONODIAB-25

From £445.00

Registration closed: 30/11/2024

Applicable for all labs undertaking molecular genetic testing for this group of disorders.

Language: English, French, German, Spanish
Accredited: Yes
Technologies: CNV, MLPA, NGS, PCR based, Sanger sequencing
Sample Types: g.DNA

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Point of Care Testing (POCT)

MT-RNR1 POCT

Product Code: POCT MT-RNR1 25

From £1300.00

Registration closed: 06/07/2025

Applicable to all labs undertaking point-of-care molecular testing of MT-RNR1 for avoidance of aminoglyocside induced hearling loss in neonates.

Language: Not applicable
Accredited: No
Technologies: PCR based
Sample Types: Artificial Buccal Swab

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Genomic and Inherited Disorders

Multiple Endocrine Neoplasia Type 2 (MEN2)

Product Code: MEN2-25

From £445.00

Registration closed: 30/11/2024

Applicable for all labs undertaking molecular genetics testing for this disorder.

Language: English, German, Spanish
Accredited: Yes
Technologies: CNV, MLPA, NGS, PCR based, Sanger sequencing
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Myotonic dystrophy (DM) (Types 1 and/or 2)

Product Code: DM-25

From £445.00

Deadline to order: 30/11/2025

Applicable to all labs undertaking molecular genetic testing for these disorders.

Language: English, German
Accredited: Yes
Technologies: CTG repeat, PCR based, Southern blotting
Sample Types: DNA in TE Buffer

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Non-Invasive Prenatal Testing (NIPT)

NIPT for common aneuploidies (including sex chromosomes)

Product Code: NIPT(ANEUPLOIDY)-25

From £471.00

Registration closed: 28/02/2025

Applicable for all labs undertaking NIPT for common aneuploidies (including sex chromosomes).

Language: English
Accredited: Yes
Technologies: NIPT
Sample Types: cffDNA circulating free fetal DNA

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Non-Invasive Prenatal Testing (NIPT)

NIPT for fetal sexing (X-linked disorders)

Product Code: NIPT(SEXING)-25

From £471.00

Registration closed: 28/02/2025

Applicable for all labs undertaking NIPT for fetal sexing (X-linked disorders).

Language: English
Accredited: Yes
Technologies: NIPT
Sample Types: cffDNA circulating free fetal DNA

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Molecular Pathology

Oncogene panel testing [Tissue]

Product Code: ONCOGENE_PANEL-25

From £630.00

Registration closed: 28/02/2025

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.

Language: Not applicable
Accredited: Yes
Technologies: Any molecular test, NGS, Whole exome sequencing
Sample Types: FFPE artificial materials

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Genomic and Inherited Disorders

Osteogenesis imperfecta (OI)

Product Code: OI-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular genetic testing for this disorder.

Language: English
Accredited: Yes
Technologies: CNV, MLPA, NGS, Panel testing, PCR based, Sanger sequencing
Sample Types: DNA in TE Buffer

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Molecular Pathology

Ovarian and Prostate Cancer (PARPi) [Tissue, Somatic]

Product Code: PARP(S)-25

From £285.00

Registration closed: 28/02/2025

Applicable to any lab undertaking somatic molecular testing of BRCA1, BRCA2 and other Homologous Recombination Repair (HRR) genes in the context of PARPi prescription, using FFPE tissue.

Language: English
Accredited: Yes
Technologies: Any molecular test, NGS, Panel testing, Targeted testing, Whole exome sequencing
Sample Types: FFPE artificial materials

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Molecular Pathology

Ovarian, breast, prostate and pancreatic cancers (PARPi) [DNA, Germline]

Product Code: PARP(G)-25

From £285.00

Registration closed: 28/02/2025

Applicable to any lab undertaking germline molecular testing of BRCA1 and BRCA2 genes in the context of PARPi prescription, using genomic DNA.

Language: English
Accredited: Yes
Technologies: Any molecular test, CNV, MLPA, NGS, Panel testing, Targeted testing
Sample Types: DNA in TE Buffer

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Molecular Pathology

Pan-Tumour Fusions [FFPE]

Product Code: FUSION-25

From £735.00

Registration closed: 28/02/2025

Applicable to all labs undertaking molecular genetic testing for this fusion genes in solid tumours.

Language: English
Accredited: No
Technologies: Any molecular test, CNV, MLPA, NGS, Panel testing, Sanger sequencing
Sample Types: FFPE artificial materials

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Pharmacogenomics

Pharmacogenetics (DPYD / UGT1A1 only)

Product Code: PHARMACO[DPYD/UGT1A1]-25

From £455.00

Registration closed: 28/02/2025

Applicable to all labs undertaking molecular testing of DPYD and/or UGT1A1 pharmacogenetic markers for drug response and efficacy.

Language: English, German
Accredited: Pending
Technologies: Any molecular test, CNV, MLPA, NGS, Panel testing, PCR based, Sanger sequencing, Single gene testing, Targeted testing, Whole exome sequencing
Sample Types: DNA in TE Buffer

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Pharmacogenomics

Pharmacogenetics (panel testing)

Product Code: PHARMACO[PANEL]-25

From £455.00

Registration closed: 28/02/2025

Applicable to all labs undertaking panel based molecular testing of pharmacogenetic markers for drug response and efficacy.

Language: English, German
Accredited: Yes
Technologies: Any molecular test, CNV, MLPA, NGS, Panel testing, PCR based, Sanger sequencing, Single gene testing, Targeted testing, Whole exome sequencing
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Phenylketonuria (PKU)

Product Code: PKU-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular genetic testing in this disorder.

Language: English, German
Accredited: Yes
Technologies: Any molecular test, PCR based
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Polyposis Syndromes (FAP, MAP)

Product Code: POLYPOSIS-25

From £445.00

Registration closed: 30/11/2024

Applicable to any lab undertaking molecular genetic testing for disorders associated with polyposis – Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).

Language: English, German
Accredited: Yes
Technologies: CNV, MLPA, NGS, Panel testing, Sanger sequencing, Single gene testing, Targeted testing
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Porphyrias

Product Code: POR-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular genetic testing in this group of disorders.

Language: English
Accredited: Yes
Technologies: Any molecular test, CNV, MLPA, NGS, Panel testing, PCR based, Sanger sequencing, Single gene testing, Targeted testing
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Postnatal Constitutional CNV Detection

Product Code: POSTNATAL CNV-25

From £471.00

Registration closed: 28/02/2025

Applicable to all labs undertaking Postnatal Constitutional CNV Detection using array based, or NGS approaches.

Language: English
Accredited: Yes
Technologies: Array based, NGS, Whole genome analysis CNV
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Prader-Willi and Angelman Syndromes (PW / AS)

Product Code: PWAS-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular testing in these syndromes

Language: English, German
Accredited: Yes
Technologies: Methylation, MLPA, NGS, PCR based, Sanger sequencing, Single gene testing
Sample Types: DNA in TE Buffer

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Molecular Pathology

Prostate cancer (PARPi) [Plasma, cfDNA]

Product Code: PARP(P)-25

From £285.00

Registration closed: 28/02/2025

Pilot EQA scheme. Applicable to any lab undertaking molecular testing of BRCA1 and BRCA2 in the context of PARPi prescription, using cfDNA from plasma.

Language: English
Accredited: No
Technologies: Any molecular test, NGS, Panel testing, Targeted testing, Whole exome sequencing
Sample Types: artificial plasma, cfDNA, ctDNA

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Genomic and Inherited Disorders

Rare Neurological Disease gene panel

Product Code: RND-25

From £445.00

Registration closed: 30/11/2024

Applicable to labs that undertake NGS-based testing for this group of disorders (including targeted panel testing/ virtual panel /clinical exome / WES / WGS)

Language: English
Accredited: Yes
Technologies: CNV, MLPA, NGS, Panel testing, Whole exome sequencing, Whole genome sequencing
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Rare Neuromuscular Disease gene panel

Product Code: NMD-25

From £445.00

Registration closed: 10/11/2024

Applicable to labs that undertake NGS-based testing for this group of disorders (including targeted panel testing/ virtual panel /clinical exome / WES / WGS)

Language: English
Accredited: No
Technologies: Any molecular test, Panel testing
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Retinoblastoma (RB)

Product Code: RB-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular genetic testing in this familial cancer.

Language: English, German
Accredited: Yes
Technologies: CNV, MLPA, NGS, Panel testing, PCR based, Sanger sequencing, Single gene testing, Targeted testing
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

RYR1 related Myopathies and Malignant Hyperthermia susceptibility

Product Code: RYR1-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular genetic testing for this group of disorders.

Language: English, German
Accredited: Yes
Technologies: CNV, MLPA, NGS, Panel testing, PCR based, Sanger sequencing, Targeted testing
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Severe Combined Immunodeficiencies (SCID) gene panel

Product Code: SCID-25

From £445.00

Registration closed: 30/11/2024

Applicable to labs that undertake gene panel testing for this group of disorders (including targeted panel testing /clinical exome / WES / WGS / Sanger)

Language: English
Accredited: Yes
Technologies: NGS, Sanger sequencing
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Spinal Muscular Atrophy (SMA)

Product Code: SMA-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular genetic testing for this disorder.

Language: Dutch, English, German
Accredited: Yes
Technologies: CAG repeat, PCR based
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Spinocerebellar Ataxias (SCA)

Product Code: SCA-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular genetic testing for this group of ataxias.

Language: Dutch, English, French, German, Polish
Accredited: Yes
Technologies: CAG repeat, PCR based
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Stickler syndrome

Product Code: STICKLER-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular genetic testing for this syndrome.

Language: English
Accredited: Yes
Technologies: CNV, MLPA, NGS, PCR based, Sanger sequencing
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Systemic Autoinflammatory Diseases

Product Code: SAID-25

From £445.00

Registration closed: 30/11/2024

Applicable for all labs undertaking molecular genetic testing for this group of disorders.

Language: English
Accredited: Yes
Technologies: Any molecular test, CNV, MLPA, NGS, Panel testing, PCR based, Sanger sequencing, Targeted testing
Sample Types: DNA in TE Buffer

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Molecular Pathology

Urothelial / bladder cancer (FGFR SNV/fusion testing) [Tissue]

Product Code: UROTHELIAL [Tissue]-25

From £285.00

Registration closed: 28/02/2025

Applicable to all labs undertaking molecular FGFR3 gene testing for this cancer type using FFPE tissue.

Language: English
Accredited: No
Technologies: Any molecular test
Sample Types: FFPE real human tumour tissue and artificial materials

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Genomic and Inherited Disorders

Von Hippel Lindau Syndrome (VHL)

Product Code: VHL-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular testing for this syndrome

Language: English, German
Accredited: Yes
Technologies: CNV, MLPA, NGS, PCR based, Sanger sequencing
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Wilson Disease

Product Code: WIL-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular genetic testing for this disorder.

Language: English, Spanish
Accredited: Yes
Technologies: CNV, MLPA, NGS, PCR based, Sanger sequencing
Sample Types: DNA in TE Buffer

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Genomic and Inherited Disorders

Y-Chromosome Microdeletion testing (AZF)

Product Code: AZF-25

From £445.00

Deadline to order: 30/11/2025

Applicable to all labs undertaking Y-Chromosome Microdeletion testing for male infertility.

Language: English, French, German, Italian
Accredited: Yes
Technologies: Any molecular test, PCR based
Sample Types: DNA in TE Buffer

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Autosomal Dominant Polycystic Kidney Disease (ADPKD) and optional gene panel testing for hereditary cystic kidney disease

Beckwith-Wiedemann and Silver-Russell syndromes (BWS/SRS)

BRCA and HRR gene variants Competency Module

Breast cancer (AKT pathway gene testing (PIK3CA, AKT1, PTEN) [Tissue]

Breast cancer (ESR1 cfDNA testing) [Plasma]

Cardiac Genetics Gene Panel: Arrhythmias

Cardiac Genetics Gene Panel: Hypertrophic Cardiomyopathies

cfDNA extraction from plasma (Round 1)

cfDNA extraction from plasma (Round 2)

Charcot-Marie-Tooth disease / Hereditary Neuropathy with liability for Pressure Palsies (CMT/HNPP) (PMP22 and optional gene panel testing for other CMT-associated genes).

Colorectal cancer [Tissue]

Congenital Adrenal Hyperplasia (CAH)

DNA SEQUENCING – NGS (Germline SNVs and indels)

DNA SEQUENCING – NGS (Germline) CNV testing

DNA SEQUENCING – NGS (Somatic SNVs and Indels – no matched germline sample)

DNA SEQUENCING – NGS (Somatic SNVs and indels + matched germline sample)

DNA SEQUENCING – SANGER

Duchenne / Becker Muscular Dystrophy (DMD / BMD) and optional gene panel testing for muscular dystrophies / hereditary myopathies

Familial autosomal dominant hypercholesterolemia (FH)

Familial SHOX gene related disorders

Fragile X Syndrome (FRAX)

Friedreich Ataxia (FRDA)

Hereditary Amyloidosis

Hereditary Breast / Ovarian cancer (HBOC) (germline)

Hereditary Haemochromatosis (HFE)

Hereditary Hearing Loss

Homologous Recombination Deficiency (HRD) testing in ovarian cancer [Tissue]

Huntington disease (HD)

Inherited Retinal Disorders (IRD)

Lung Cancer (NSCLC) [Plasma]

Lung cancer (NSCLC) [Tissue]

Lynch syndrome (hereditary non-polyposis colon cancer, HNPCC)

Melanoma [Tissue]

Microsatellite Instability testing

Mitochondrial DNA disorders

Monogenic Diabetes

MT-RNR1 POCT

Multiple Endocrine Neoplasia Type 2 (MEN2)

Myotonic dystrophy (DM) (Types 1 and/or 2)

NIPT for common aneuploidies (including sex chromosomes)

NIPT for fetal sexing (X-linked disorders)

Oncogene panel testing [Tissue]

Osteogenesis imperfecta (OI)

Ovarian and Prostate Cancer (PARPi) [Tissue, Somatic]

Ovarian, breast, prostate and pancreatic cancers (PARPi) [DNA, Germline]

Pan-Tumour Fusions [FFPE]

Pharmacogenetics (DPYD / UGT1A1 only)

Pharmacogenetics (panel testing)

Phenylketonuria (PKU)

Polyposis Syndromes (FAP, MAP)

Porphyrias

Postnatal Constitutional CNV Detection

Prader-Willi and Angelman Syndromes (PW / AS)

Prostate cancer (PARPi) [Plasma, cfDNA]

Rare Neurological Disease gene panel

Rare Neuromuscular Disease gene panel

Retinoblastoma (RB)

RYR1 related Myopathies and Malignant Hyperthermia susceptibility

Severe Combined Immunodeficiencies (SCID) gene panel

Spinal Muscular Atrophy (SMA)

Spinocerebellar Ataxias (SCA)

Stickler syndrome

Systemic Autoinflammatory Diseases

Urothelial / bladder cancer (FGFR SNV/fusion testing) [Tissue]

Von Hippel Lindau Syndrome (VHL)

Wilson Disease

Y-Chromosome Microdeletion testing (AZF)

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