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:
- European Molecular Genetics Quality Network (EMQN) – View catalogue
- Cystic Fibrosis European Network (CF Network) – View catalogue
- UK National External Quality Assessment Scheme for Leucocyte Immunophenotyping (UK NEQAS LI) – View catalogue
- Quality Control for Molecular Diagnostics (QCMD) – View Catalogue
- Genomics Quality Assessment (GenQA)
- Australasian Society of Diagnostic Genomics (ASDG)
The Molecular Genetics Programs Safety Data Sheet (SDS) can be accessed here.
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
23130102Frequency (No of surveys/year)
2Cases/samples per survey
1Sample Type
DNASample volume
1µg of purified DNA in TE pH 8.0 provided in each caseSchedule
May, SeptemberMeasurand/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.
Product details last updated on August 17, 2021
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
23140102Frequency (No of surveys/year)
3Cases/samples per survey
1Sample Type
RNASample volume
2µg of lyophilised, purified RNA provided in each caseSchedule
March, June, OctoberMeasurand/Test
Molecular genetic testing for BCR-ABL1 fusion transcripts (p190, p210, e1a2, e1a3, e13a2, e13a3, e14a2, e14a3).Storage and Handling
Store RNA samples at -80°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 October 8, 2021
Chimerism Analysis
This module 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
23150102Frequency (No of surveys/year)
3Cases/samples per survey
1Sample Type
DNASample volume
1.5µg of purified DNA in TE pH 8.0 provided in each caseSchedule
March, July, SeptemberMeasurand/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 August 17, 2021
Coeliac Disease HLA Genotyping
This module qualitatively assesses laboratory performance in the detection, reporting and interpretation of the HLA-DQ haplotypes and associated HLA-DQA1 and HLA-DQB1 alleles.
Catalogue Number
23010102Frequency (No of surveys/year)
3Cases/samples per survey
2Sample Type
DNASample volume
1µg of purified DNA in TE pH 8.0 provided in each caseSchedule
February, July, NovemberMeasurand/Test
Molecular genetic testing for HLA-DQA1 and HLA-DQB1 alleles.Storage and Handling
Store DNA samples below 4°C or according to your standard operating procedure, upon receipt.Product details last updated on August 17, 2021
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 receptor tyrosine kinase 3 (FLT3) gene.
Catalogue Number
23160102Frequency (No of surveys/year)
2Cases/samples per survey
2Sample Type
DNASample volume
1µg of purified DNA in TE pH 8.0 provided in each caseSchedule
May, SeptemberMeasurand/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 August 17, 2021
Hereditary Haemochromatosis (HFE)
This module qualitatively assesses laboratory performance in the detection of hereditary hemochromatosis gene variants (C282Y, H63D).
Catalogue Number
23170102Frequency (No of surveys/year)
4Cases/samples per survey
2Sample Type
DNASample volume
1µg of purified DNA in TE pH 8.0 provided in each caseSchedule
February, May, August, NovemberMeasurand/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 August 17, 2021
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
23020102Frequency (No of surveys/year)
4Cases/samples per survey
2Sample Type
DNASample volume
1µg of purified DNA in TE pH 8.0 provided in each caseSchedule
January, May, August, NovemberMeasurand/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 August 17, 2021
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
23180102Frequency (No of surveys/year)
3Cases/samples per survey
1Sample Type
DNASample volume
1µg of purified DNA in TE pH 8.0 provided in each caseSchedule
February, May, SeptemberMeasurand/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 August 17, 2021
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
23190102Frequency (No of surveys/year)
3Cases/samples per survey
1Sample Type
DNASample volume
2.5µg of purified DNA in TE pH 8.0 provided in each caseSchedule
March, July, OctoberMeasurand/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 August 17, 2021
Kennedy’s Disease
This module qualitatively assesses laboratory performance in the detection of androgen receptor (AR) gene variants.
Catalogue Number
23070102Frequency (No of surveys/year)
1Cases/samples per survey
3Sample Type
DNASample volume
1µg of purified DNA provided in each caseSchedule
JuneMeasurand/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. This is a sample exchange program where participating laboratories provide samples to RCPAQAP. All samples will be de-identified, re-labelled and distributed.
Product details last updated on August 17, 2021
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
23090102Frequency (No of surveys/year)
3Cases/samples per survey
1 family triosSample Type
DNASample volume
1µg of purified DNA in TE pH 8.0 provided in each caseSchedule
March, August, NovemberMeasurand/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 August 17, 2021
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
23030102Frequency (No of surveys/year)
2Cases/samples per survey
2Sample Type
FFPE tissue (patient derived)Sample volume
Virtual H&E and five unstained 6µM sections (mounted) provided in each case.Schedule
May, SeptemberMeasurand/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 August 17, 2021
