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

23040102

Frequency (No of surveys/year)

2

Cases/samples per survey

2

Sample Type

FFPE tissue (patient derived)

Sample volume

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

Schedule

March, September

Measurand/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

23050102

Frequency (No of surveys/year)

2

Cases/samples per survey

2

Sample Type

FFPE tissue (patient derived)

Sample volume

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

Schedule

May, September

Measurand/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

23060102

Frequency (No of surveys/year)

2

Cases/samples per survey

2

Sample Type

FFPE tissue (patient derived)

Sample volume

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

Schedule

March, September

Measurand/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

23200102

Frequency (No of surveys/year)

4

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, May, August, November

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 August 17, 2021

NPM1

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

Catalogue Number

23210102

Frequency (No of surveys/year)

3

Cases/samples per survey

1

Sample Type

DNA

Sample volume

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

Schedule

January, May, September

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 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

23220102

Frequency (No of surveys/year)

3

Cases/samples per survey

1

Sample Type

RNA

Sample volume

2µg of lyophilised, purified RNA provided in each case

Schedule

March, June, October

Measurand/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

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

June

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 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

23100102

Frequency (No of surveys/year)

2

Cases/samples per survey

2

Sample Type

DNA

Sample volume

n/a

Schedule

May, August

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 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 four DNA samples of their choice to the RCPAQAP for quality assessment.

Catalogue Number

23110102

Frequency (No of surveys/year)

2

Cases/samples per survey

2

Sample Type

FFPE DNA

Sample volume

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

Schedule

March, August

Measurand/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 August 18, 2021

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)

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

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

23230102

Frequency (No of surveys/year)

3

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

March, July, October

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 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

23240102

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

Schedule

February, May, August, November

Measurand/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