Molecular Genetics

Genetics is an integral part of pathology with implications in disease pathogenesis and progression, identification of diagnostic and prognostic biomarkers, as well as targeted treatments. The RCPAQAP Molecular Genetics discipline offers diagnostic and technical proficiency testing programs for inherited diseases, oncology, molecular haematology and rare genetic disorders (as sample exchanges).

In addition, the RCPAQAP Molecular Genetics discipline partners with major external quality assurance providers to provide customers with as many options for molecular genetics testing as is currently available, this includes the:

  • UK National External Quality Assessment Scheme for Leucocyte Immunophenotyping (UK NEQAS LI) – View catalogue
  • Genomics Quality Assessment (GenQA)
  • Australasian Society of Diagnostic Genomics (ASDG)

Acute Myeloid Leukemia NGS Panel testing

The objective of this module is to assess laboratory performance on the genotyping of different genes associated with Acute Myeloid Leukaemia (AML) using next generation sequencing (NGS).

Frequency / Number of samples

1 survey / 2 samples (DNA in TE buffer)

Tests

DNA; NGS AML

Product details last updated on August 15, 2019

BCR-ABL Qualitative Testing

This module is a qualitative assessment of laboratories in the identification of BCR/ABL translocations in Chronic Myeloid Leukaemia (CML) and Acute Lymphoblastic Leukaemia (ALL).

Frequency / Number of samples

1 survey / 3 samples per survey (Lyophilised RNA)

Tests

Molecular genetic analysis to determine BCR/ABL translocations status

Product details last updated on March 15, 2019

Chimerism Analysis

This module qualitatively and quantitatively assesses laboratory performance in the evaluation and reporting of donor versus recipient cells in post-transplant peripheral blood or bone marrow specimens.

Frequency / Number of samples

1 survey / 5 samples per survey (DNA in TE buffer)

Tests

Chimerism analysis

Product details last updated on March 15, 2019

Circulating tumour DNA (ctDNA) for Somatic Mutation Detection

This module quantitatively assesses laboratory performance in the detection and reporting of gene variants and the allele fraction in cfDNA samples.

Frequency / Number of samples

1 survey / 5 samples (ctDNA in TE buffer)

Tests

cfDNA

Product details last updated on August 16, 2019

Coeliac Disease HLA Genotyping

This module qualitatively assesses laboratory performance in the detection, reporting and interpretation of the HLA-DQ2/DQ8 antigens and associated HLA-DQA1 and HLA-DQB1 gene haplotypes.

Frequency / Number of samples

1 survey / 5 samples per survey (DNA in TE buffer)

Tests

HLA genotyping

Product details last updated on March 15, 2019

FLT3 ITD and TKD

This module qualitatively and quantitatively assesses laboratory performance in the identification of internal tandem duplication (ITD) and tyrosine kinase domain (TKD) variants of the fms related tyrosine kinase 3 (FLT3) gene.

Frequency / Number of samples

1 survey / 3 samples per survey (DNA in TE buffer)

Tests

Molecular genetic analysis; variant screening of the FLT3 gene

Product details last updated on August 15, 2019

Hereditary Haemochromatosis (HFE)

This module qualitatively assesses laboratory performance in the detection of hereditary hemochromatosis variants (p.Cys282Tyr, p.His63Asp).

Frequency / Number of samples

2 surveys / 4 samples per survey (DNA in TE buffer)

Tests

Molecular genetic analysis; variant screening of the HFE gene

Product details last updated on August 16, 2019

Human Leukocyte Antigen B*57

This module assesses laboratory performance in the detection, reporting and interpretation of the HLA-B*5107 allele.

Frequency / Number of samples

4 surveys / 2 samples per survey (DNA in TE buffer)

Tests

HLA genotyping

Product details last updated on August 13, 2019

IDH Mutation Analysis in AML (IDH1, IDH2)

This module qualitatively assesses laboratory performance in the detection of isocitrate dehydrogenase (IDH) 1 and 2 gene variants in Acute Myeloid Leukaemia (AML).

Frequency / Number of samples

1 survey / 3 samples per survey (DNA in TE buffer)

Tests

Molecular genetic analysis; variant screening of the IDH1 and IDH2 genes

Product details last updated on August 13, 2019

IDH Mutation Analysis in Glioma

This is a sample exchange program where participating laboratories provide specimens to RCPAQAP. These will be de-identified, re-labelled and distributed. This program assesses laboratory performance for the detection of isocitrate dehydrogenase (IDH) 1 and 2 gene variants in glioma.

Frequency / Number of samples

1 survey / 3 samples per survey (Patient-derived and synthetic FFPE tissue)

Tests

Molecular genetic analysis; FFPE DNA extraction; Mutation screening of the IDH1 and IDH2 genes

Product details last updated on August 13, 2019

Immunogenotyping (IgH,TCR)

This module qualitatively assesses laboratory performance in the detection of immunoglobulin heavy chain and T-cell receptor gene rearrangements.

Frequency / Number of samples

1 survey / 3 samples per survey (DNA in TE buffer)

Tests

Molecular genetic analysis to determine IGH and TCR gene rearrangement status

Product details last updated on August 13, 2019

Kennedy’s Disease

This is a sample exchange program where participating laboratories provide specimens to RCPAQAP. These will be de-identified, re-labelled and distributed. This program assesses laboratory performance in the detection of mutations in the androgen receptor (AR) gene.

Frequency / Number of samples

1 survey / 3 samples per survey (DNA in TE buffer)

Tests

Molecular genetic analysis; Mutation screening of the AR gene

Product details last updated on August 13, 2019