Molecular Genetics
Mutation Detection in Colorectal Cancer
This module qualitatively assesses laboratory performance in the detection, reporting and interpretation of KRAS proto-oncogene, GTPase (KRAS), NRAS proto-oncogene, GTPase (NRAS) and/or B-Raf proto-oncogene, serine/threonine kinase (BRAF) gene variants in colorectal cancer.
What's new
BRAF genotyping is now included in this module.
Catalogue Number
23040102Frequency (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
March, SeptemberMeasurand/Test
FFPE DNA extraction; Molecular genetic testing for KRAS, NRAS and/or BRAF gene variants.Storage and Handling
Store FFPE samples below 4°C or according to your standard operating procedure, upon receipt.Product details last updated on August 17, 2021
Mutation Detection in Lung Cancer (NSCLC)
This module qualitatively assesses laboratory performance in the detection, reporting and interpretation of epidermal growth factor receptor (EGFR) and/or KRAS proto-oncogene, GTPase (KRAS) gene variants in lung cancer.
What's new
KRAS genotyping is now included in this module.
Catalogue Number
23050102Frequency (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 EGFR and/or KRAS gene variants.Storage and Handling
Store FFPE samples below 4°C or according to your standard operating procedure, upon receipt.Product details last updated on August 17, 2021
Mutation Detection in Melanoma
This module qualitatively assesses laboratory performance in the detection, reporting and interpretation of B-Raf proto-oncogene, serine/threonine kinase (BRAF) and/or NRAS proto-oncogene, GTPase (NRAS) gene variants in melanoma.
Catalogue Number
23060102Frequency (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
March, SeptemberMeasurand/Test
FFPE DNA extraction; Molecular genetic testing for BRAF and NRAS gene variants.Storage and Handling
Store FFPE samples below 4°C or according to your standard operating procedure, upon receipt.Product details last updated on August 17, 2021
Myeloproliferative Neoplasms (JAK2, CALR, MPL)
This module qualitatively assesses laboratory performance in the detection of janus kinase 2 (JAK2), calreticulin (CALR) and MPL proto-oncogene, thrombopoietin receptor (MPL) gene variants associated with myeloproliferative neoplasms.
Catalogue Number
23200102Frequency (No of surveys/year)
4Cases/samples per survey
2Sample Type
DNASample volume
Up to 1.5µg of purified DNA in TE pH 8.0 provided in each caseSchedule
February, May, August, NovemberMeasurand/Test
Molecular genetic testing for JAK2, CALR and MPL 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
NPM1
This module qualitatively assesses laboratory performance in the detection of nucleophosmin 1 (NPM1) gene variants.
Catalogue Number
23210102Frequency (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
January, May, SeptemberMeasurand/Test
Molecular genetic testing for NPM1 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 18, 2021
PML-RARA
This module qualitatively assesses laboratory performance in the detection of PML nuclear body scaffold/retinoic acid receptor alpha (PML-RARA) fusion gene.
Catalogue Number
23220102Frequency (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 PML-RARα fusion transcripts.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 September 2, 2021
PTEN
This module qualitatively assesses laboratory performance for the detection of phosphatase and tensin homolog (PTEN) gene variants.
Catalogue Number
23080102Frequency (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 PTEN gene variants.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 18, 2021
Quality Assessment of DNA Extracts
This module assesses and validates the quality of genomic DNA extracts from various tissue types (except FFPE tissue). Participants will be required to extract and return up to five DNA samples of their choice to the RCPAQAP for quality assessment.
Catalogue Number
23100102Frequency (No of surveys/year)
2Cases/samples per survey
2Sample Type
DNASample volume
n/aSchedule
May, AugustMeasurand/Test
Genomic DNA extraction from any tissue type except FFPE.Storage and Handling
Return DNA extracts at ambient temperature to RCPAQAP Molecular Genetics.Additional Comments
This program is under development and not currently covered under the scope of accreditation by NATA.
Product details last updated on October 8, 2021
Quality Assessment of FFPE DNA Extracts
This module assesses and validates the quality of DNA extracts from FFPE tissue. Participants will be required to extract DNA from the tissue provided and return the DNA along with up to two DNA samples of their choice to the RCPAQAP for quality assessment.
Catalogue Number
23110102Frequency (No of surveys/year)
2Cases/samples per survey
2Sample Type
FFPE DNASample volume
One 15µM to 20µM FFPE section (vial) provided for DNA extraction.Schedule
March, AugustMeasurand/Test
FFPE DNA extraction.Storage and Handling
Return FFPE DNA extracts at ambient temperature to RCPAQAP Molecular Genetics.Additional Comments
This program is under development and currently not covered under the scope of accreditation by NATA.
Product details last updated on April 22, 2022
Sanger DNA Sequencing
This is a technical module to assess laboratory performance in Sanger sequencing. There are two components in this module; (i) Technical component – participants are required to submit raw sequencing data files for analysis, (ii) Diagnostic component – participants are required to report gene variants detected.
Catalogue Number
23120102Frequency (No of surveys/year)
2Cases/samples per survey
1Sample Type
PCR products and sequencing primersSample volume
20µL of PCR products provided in each caseLyophilised forward and reverse primers at 10µM
Schedule
March, AugustMeasurand/Test
PCR product clean-up; Post-sequencing clean-up; Sanger sequencingStorage and Handling
Store PCR products and primers below 4°C or according to your standard operating procedure, upon receipt.Product details last updated on August 18, 2021
Thalassaemia (alpha, beta)
This module qualitatively assesses laboratory performance in the detection of α-thalassemia (HBA1/HBA2) and/or β-thalassemia (HBB) gene variants.
Catalogue Number
23230102Frequency (No of surveys/year)
3Cases/samples per survey
2Sample Type
DNASample volume
Up to 1.5µg of purified DNA in TE pH 8.0 provided in each caseSchedule
March, July, OctoberMeasurand/Test
Molecular genetic testing for HBA1/HBA2 and/or HBB 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 18, 2021
Thrombosis (F5, F2)
This module qualitatively assesses laboratory performance in the detection of coagulation factor V (F5) and coagulation factor II, thrombin (F2) gene variants.
What's new
MTHFR testing is no longer included.
Catalogue Number
23240102Frequency (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 F5 and F2 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 18, 2021
