Molecular Genetics

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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.

Catalogue Number

23040102

Frequency (No of surveys/year)

2

Cases/samples per survey

2

Sample Type

FFPE tissue sections (patient derived)

Sample volume

Virtual H&E and five unstained 6µM sections (mounted) provided in each case.

Schedule

April, September

Measurand/Test

FFPE DNA extraction; Molecular genetic testing for KRAS, NRAS and/or BRAF gene variants and variant allele frequency

Storage and Handling

Upon receipt, store samples at 2-8°C or according to your standard operating procedure

Product details last updated on August 21, 2024

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.

Catalogue Number

23050102

Frequency (No of surveys/year)

2

Cases/samples per survey

2

Sample Type

FFPE tissue sections (patient derived)

Sample volume

Virtual H&E and five unstained 6µM sections (mounted) provided in each case.

Schedule

May, October

Measurand/Test

FFPE DNA extraction; Molecular genetic testing for EGFR and/or KRAS gene variants and variant allele frequency

Storage and Handling

Upon receipt, store samples at 2-8°C or according to your standard operating procedure

Product details last updated on August 21, 2024

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

23060102

Frequency (No of surveys/year)

2

Cases/samples per survey

2

Sample Type

FFPE tissue sections (patient derived)

Sample volume

Virtual H&E and five unstained 6µM sections (mounted) provided in each case.

Schedule

April, September

Measurand/Test

FFPE DNA extraction; Molecular genetic testing for BRAF and NRAS gene variants and variant allele frequency

Storage and Handling

Upon receipt, store samples at 2-8°C or according to your standard operating procedure

Product details last updated on August 21, 2024

Myeloid 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)

2

Cases/samples per survey

1

Sample Type

DNA

Sample volume

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

Schedule

April, September

Measurand/Test

Next generation sequencing; Molecular genetic testing for ASXL1, BCOR, BRAF, CALR, CBL, CEBPA, CSF3R, DDX41, DNMT3A, ETV6, EZH2, FLT3, GATA2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NPM1, NRAS, PTPN11, RUNX1, SETBP1, SF3B1, SRSF2, STAG2, TET2, TP53, U2AF1, WT1, ZRSR2 gene variants

Storage and Handling

Upon receipt, store samples at 2-8°C or according to your standard operating procedure

Additional Comments

Available to order in myQAP under the Haematology Discipline.

Product details last updated on August 23, 2024

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

23200102

Frequency (No of surveys/year)

2

Cases/samples per survey

2

Sample Type

DNA

Sample volume

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

Schedule

February, July

Measurand/Test

Molecular genetic testing for JAK2, CALR and MPL gene variants and JAK2 variant allele frequency

Storage and Handling

Upon receipt, store samples at 2-8°C or according to your standard operating procedure

Additional Comments

Available to order in myQAP under the Haematology Discipline

Product details last updated on August 21, 2024

NPM1

This module qualitatively assesses laboratory performance in the detection of nucleophosmin 1 (NPM1) gene variants.

Catalogue Number

23210102

Frequency (No of surveys/year)

2

Cases/samples per survey

2

Sample Type

DNA

Sample volume

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

Schedule

March, August

Measurand/Test

Molecular genetic testing for NPM1 gene variants.

Storage and Handling

Upon receipt, store samples at 2-8°C or according to your standard operating procedure

Additional Comments

Available to order in myQAP under the Haematology Discipline

Product details last updated on August 21, 2024

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

23220102

Frequency (No of surveys/year)

2

Cases/samples per survey

2

Sample Type

RNA

Sample volume

Up to 2µg of lyophilised, purified RNA provided in each case

Schedule

April, September

Measurand/Test

Molecular genetic testing for PML-RARA fusion transcripts (bcr1, bcr2, bcr3).

Storage and Handling

Upon receipt, store samples at -70°C or according to your standard operating procedure

Additional Comments

Available to order in myQAP under the Haematology Discipline

Product details last updated on August 21, 2024

PTEN

This module qualitatively assesses laboratory performance for the detection of phosphatase and tensin homolog (PTEN) gene variants.

Catalogue Number

23080102

Frequency (No of surveys/year)

1

Cases/samples per survey

3

Sample Type

DNA

Sample volume

1µg of purified DNA provided in each case

Schedule

March

Measurand/Test

Molecular genetic testing for PTEN gene variants.

Storage and Handling

Upon receipt, store samples at 2-8°C or according to your standard operating procedure

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 21, 2024

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 DNA samples of their choice to the RCPAQAP for quality assessment.
Purity ratio of DNA extracts submitted will be assessed.

Catalogue Number

23100102

Frequency (No of surveys/year)

2

Cases/samples per survey

2

Sample Type

DNA

Sample volume

n/a

Schedule

May, October

Measurand/Test

Genomic DNA extraction from any tissue type except FFPE.

Product details last updated on August 21, 2024

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 samples of their choice to the RCPAQAP for quality assessment.
Purity ratio of FFPE DNA extracts submitted will be assessed.

Catalogue Number

23110102

Frequency (No of surveys/year)

2

Cases/samples per survey

2

Sample Type

FFPE tissue curl (cell line or patient derived)

Sample volume

One 15µM to 20µM FFPE section (vial) provided for DNA extraction.

Schedule

March, August

Measurand/Test

Genomic DNA extraction from FFPE.

Product details last updated on August 21, 2024

RCPAQAP Non-Small Cell Lung Carcinoma Panel Testing

This module qualitatively assesses laboratory performance in the detection, reporting and interpretation of nucleic acid-based multi-gene panel test of non-small cell lung carcinoma for variants in EGFR, BRAF, KRAS, MET and fusion status of ALK, ROS1, RET and NTRK1/2/3.

What's new

New for 2025

Catalogue Number

23280102

Frequency (No of surveys/year)

1

Cases/samples per survey

2

Sample Type

Virtual H&E and five unstained 6µM sections (mounted) provided in each case

Schedule

May

Measurand/Test

Molecular genetic testing for EGFR, BRAF, KRAS and MET exon 14, and fusion status of ALK, ROS1, RET, NTRK1, NTRK2 and NTRK3 genes

Storage and Handling

Upon receipt, store samples at 2-8°C or according to your standard operating procedure

Product details last updated on August 21, 2024

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.

Variant nomenclature and zygosity status of variant detected will be assessed under the Diagnostic component.

Catalogue Number

23120102

Frequency (No of surveys/year)

2

Cases/samples per survey

1

Sample Type

PCR products and sequencing primers

Sample volume

20µL of PCR products provided in each case
Lyophilised forward and reverse primers at 10µM

Schedule

March, August

Measurand/Test

PCR product clean-up; Post-sequencing clean-up; Sanger sequencing

Storage and Handling

Upon receipt, store samples at 2-8°C or according to your standard operating procedure

Product details last updated on August 21, 2024

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