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

This module qualitatively assesses laboratory performance in the detection and reporting of various genes associated with acute myeloid leukaemia (AML) using next generation sequencing (NGS).

Catalogue Number

23130102

Frequency (No of surveys/year)

1

Cases/samples per survey

2

Sample Type

DNA

Sample volume

1µg of purified DNA in TE pH 8.0 provided in each case

Measurand/Test

Next generation sequencing for AML-associated gene variants.

Storage and Handling

Store DNA samples below 4°C or according to your standard operating procedure, upon receipt.

Additional Comments

Available to order in myQAP under the Haematology Discipline.

This program is under development and currently not covered under the scope of accreditation by NATA.


Product details last updated on September 17, 2020

BCR-ABL Qualitative

This module qualitatively assesses laboratory performance in the detection and identification of BCR-ABL fusion transcripts in chronic myeloid leukaemia (CML) and acute lymphoblastic leukaemia (ALL).

Catalogue Number

23140102

Frequency (No of surveys/year)

1

Cases/samples per survey

3

Sample Type

RNA

Sample volume

2µg of lyophilised, purified RNA provided in each case

Measurand/Test

Molecular genetic testing for BCR-ABL1 fusion transcripts.

Storage and Handling

Store lyophilised RNA samples below 4°C or according to your standard operating procedure, upon receipt.

After resuspension, store RNA samples at -80°C.

Additional Comments

Available to order in myQAP under the Haematology Discipline


Product details last updated on September 10, 2020

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.

Catalogue Number

23150102

Frequency (No of surveys/year)

1

Cases/samples per survey

5

Sample Type

DNA

Sample volume

1.5µg of purified DNA in TE pH 8.0 provided in each case

Measurand/Test

Chimerism analysis.

Storage and Handling

Store DNA samples below 4°C or according to your standard operating procedure, upon receipt.

Additional Comments

Available to order in myQAP under the Haematology Discipline


Product details last updated on September 10, 2020

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.

Catalogue Number

23010102

Frequency (No of surveys/year)

1

Cases/samples per survey

5

Sample Type

DNA

Sample volume

1µg of purified DNA in TE pH 8.0 provided in each case

Measurand/Test

Molecular genetic testing for HLA-DQA1 and HLA-DQB1 / HLA-DQ2.2, HLA-DQ2.5, HLA-DQ7 (or HLA-DQA1*05), HLA-DQ8.

Storage and Handling

Store DNA samples below 4°C or according to your standard operating procedure, upon receipt.

Product details last updated on September 10, 2020

FLT-3 ITD and TKD

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

Catalogue Number

23160102

Frequency (No of surveys/year)

1

Cases/samples per survey

3

Sample Type

DNA

Sample volume

1µg of purified DNA in TE pH 8.0 provided in each case

Measurand/Test

Molecular genetic testing for FLT3 ITD and TKD gene variants.

Storage and Handling

Store DNA samples below 4°C or according to your standard operating procedure, upon receipt.

Additional Comments

Available to order in myQAP under the Haematology Discipline


Product details last updated on September 10, 2020

Hereditary Haemochromatosis (HFE)

This module qualitatively assesses laboratory performance in the detection of hereditary hemochromatosis gene variants (C282Y, H63D).

Catalogue Number

23170102

Frequency (No of surveys/year)

2

Cases/samples per survey

4

Sample Type

DNA

Sample volume

1µg of purified DNA in TE pH 8.0 provided in each case

Measurand/Test

Molecular genetic testing for HFE gene variants, C282Y and H63D.

Storage and Handling

Store DNA samples below 4°C or according to your standard operating procedure, upon receipt.

Additional Comments

Available to order in myQAP under the Haematology Discipline


Product details last updated on September 10, 2020

Human Leukocyte Antigen B*57

This module qualitatively assesses laboratory performance in the detection, reporting and interpretation of the HLA-B*5701 allele.

Catalogue Number

23020102

Frequency (No of surveys/year)

4

Cases/samples per survey

2

Sample Type

DNA

Sample volume

1µg of purified DNA in TE pH 8.0 provided in each case

Measurand/Test

Molecular genetic testing for HLA-B*57:01.

Storage and Handling

Store DNA samples below 4°C or according to your standard operating procedure, upon receipt.

Product details last updated on September 10, 2020

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).

Catalogue Number

23180102

Frequency (No of surveys/year)

1

Cases/samples per survey

3

Sample Type

DNA

Sample volume

1µg of purified DNA in TE pH 8.0 provided in each case

Measurand/Test

Molecular genetic testing for IDH1 and IDH2 gene variants.

Storage and Handling

Store DNA samples below 4°C or according to your standard operating procedure, upon receipt.

Additional Comments

Available to order in myQAP under the Haematology Discipline


Product details last updated on September 10, 2020

Immunogenotyping (IgH,TCR)

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

Catalogue Number

23190102

Frequency (No of surveys/year)

1

Cases/samples per survey

3

Sample Type

DNA

Sample volume

2.5µg of purified DNA in TE pH 8.0 provided in each case

Measurand/Test

Molecular genetic testing for IgH and TCR gene rearrangement.

Storage and Handling

Store DNA samples below 4°C or according to your standard operating procedure, upon receipt.

Additional Comments

Available to order in myQAP under the Haematology Discipline


Product details last updated on September 10, 2020

Kennedy’s Disease

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

Catalogue Number

23070102

Frequency (No of surveys/year)

1

Cases/samples per survey

3

Sample Type

DNA

Sample volume

1µg of purified DNA provided in each case

Measurand/Test

Molecular genetic testing for CAG trinucleotide repeat expansion in the AR gene.

Storage and Handling

Store DNA samples below 4°C or according to your standard operating procedure, upon receipt.

Additional Comments

This program is not covered under the scope of accreditation by NATA.


Product details last updated on September 17, 2020

Maternal Cell Contamination

This module qualitatively and quantitatively assesses laboratory performance in the detection, determination and interpretation of maternal cell contamination levels in mock prenatal samples.

Catalogue Number

23090102

Frequency (No of surveys/year)

1

Cases/samples per survey

3 family trios

Sample Type

DNA

Sample volume

1µg of purified DNA in TE pH 8.0 provided in each case

Measurand/Test

Maternal cell contamination studies.

Storage and Handling

Store DNA samples below 4°C or according to your standard operating procedure, upon receipt.

Product details last updated on September 10, 2020

Molecular Testing in Glioma (IDH1/2, MGMT)

This module qualitatively assesses laboratory performance in the detection, reporting and interpretation of isocitrate dehydrogenase (IDH) 1 and 2 gene variants, and methylguanine-DNA Methyltransferase (MGMT) promoter methylation in glioma.

What's new

This program is previously called IDH Mutation Analysis in Glioma. MGMT promoter methylation is now included in this module.

Catalogue Number

23030102

Frequency (No of surveys/year)

1

Cases/samples per survey

3

Sample Type

FFPE tissue (patient derived)

Sample volume

A single H&E stained section and three unstained 10µM sections (mounted) provided in each case.

Measurand/Test

FFPE DNA extraction; Molecular genetic testing for IDH1 and IDH2 gene varaints, and MGMT gene methylation.

Storage and Handling

Store FFPE samples below 4°C or according to your standard operating procedure, upon receipt.

Additional Comments

This program is under development and currently not covered under the scope of accreditation by NATA.


Product details last updated on September 17, 2020