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) and/or neuroblastoma RAS viral oncogene homolog (NRAS) gene variants in colorectal cancer.

Catalogue Number

23040102

Frequency (No of surveys/year)

1

Cases/samples per survey

5

Sample Type

FFPE tissue (patient derived and synthetic tissue)

Sample volume

A single H&E stained section and three unstained 6µM sections (mounted) provided in each patient derived case.

One 15µM to 20µM FFPE section (vial) provided in each synthetic case.

Measurand/Test

FFPE DNA extraction; Molecular genetics testing for KRAS 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 July 31, 2020

Mutation Detection in Lung Cancer (NSCLC)

This module qualitatively assesses laboratory performance in the detection, reporting and interpretation of epidermal growth factor receptor (EGFR) gene variants in lung cancer.

Catalogue Number

23050102

Frequency (No of surveys/year)

1

Cases/samples per survey

5

Sample Type

FFPE tissue (patient derived and synthetic tissue)

Sample volume

A single H&E stained section and three unstained 6µM sections (mounted) provided in each patient derived case.

One 15µM to 20µM FFPE section (vial) provided in each synthetic case.

Measurand/Test

FFPE DNA extraction; Molecular genetics testing for EGFR 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 July 31, 2020

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 neuroblastoma RAS viral oncogene homolog (NRAS) gene variants in melanoma.

Catalogue Number

23060102

Frequency (No of surveys/year)

1

Cases/samples per survey

5

Sample Type

FFPE tissue (patient derived and synthetic tissue)

Sample volume

A single H&E stained section and three unstained 6µM sections (mounted) provided in each patient derived case.

One 15µM to 20µM FFPE section (vial) provided in each synthetic case.

Measurand/Test

FFPE DNA extraction; Molecular genetics 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 July 31, 2020

Myeloproliferative Neoplasms (JAK2, CALR, MPL)

This module qualitatively assesses laboratory performance in the detection of janus kinase 2 (JAK2), calreticulin (CALR) and myeloproliferative leukaemia (MPL) gene variants associated with myeloproliferative neoplasms.

Catalogue Number

23200102

Frequency (No of surveys/year)

2

Cases/samples per survey

4

Sample Type

DNA

Sample volume

Up to 2µg of purified DNA in TE pH 8.0 provided in each case

Measurand/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 July 31, 2020

NPM1

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

Catalogue Number

23210102

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 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 July 31, 2020

PML RARα

This module qualitatively assesses laboratory performance in the detection of Promyelocytic Leukaemia/Retinoic Acid Receptor Alpha (PML-RARα) fusion gene.

Catalogue Number

23220102

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 PML-RARα 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 July 31, 2020

PTEN

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 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

Measurand/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 non-accredited

Product details last updated on July 31, 2020

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

23100102

Frequency (No of surveys/year)

1

Cases/samples per survey

5

Sample Type

DNA

Sample volume

n/a

Measurand/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 non-accredited

Product details last updated on July 31, 2020

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 and return up to five DNA samples of their choice to the RCPAQAP for quality assessment.

Catalogue Number

23110102

Frequency (No of surveys/year)

1

Cases/samples per survey

5

Sample Type

FFPE DNA

Sample volume

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

Measurand/Test

FFPE DNA extraction.

Storage and Handling

Return FFPE DNA extracts at ambient temperature to RCPAQAP Molecular Genetics.

Additional Comments

This program is non-accredited

Product details last updated on July 31, 2020

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

23120102

Frequency (No of surveys/year)

1

Cases/samples per survey

2 (4 sequencing reactions)

Sample Type

PCR products and sequencing primers

Sample volume

20µL of PCR products provided in each case

Lyophilised forward and reverse primers at 10µM

Measurand/Test

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

Storage and Handling

Store PCR products and primers below 4°C or according to your standard operating procedure, upon receipt.

Product details last updated on July 31, 2020

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

23230102

Frequency (No of surveys/year)

2

Cases/samples per survey

3

Sample Type

DNA

Sample volume

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

Measurand/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 July 31, 2020

Thrombosis (F5, F2)

This module qualitatively assesses laboratory performance in the detection of Factor V Leiden and Prothrombin gene variants.

What's new

MTHFR testing is no longer included.

Catalogue Number

23240102

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 F2 and F5 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 July 31, 2020