Molecular Genetics Archives - Page 2 of 3

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

23030102

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, October

Measurand/Test

FFPE DNA extraction; Molecular genetic testing for IDH1 and IDH2 gene varaints, MGMT gene methylation 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 September 1, 2023

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 (patient derived)

Sample volume

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

Schedule

February, July

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 September 1, 2023

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 (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 September 1, 2023

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

February, July

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 September 1, 2023

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)

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

January, May, August

Measurand/Test

Molecular genetic testing for JAK2, CALR and MPL 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 31, 2023

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

February, June, 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 31, 2023

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

April, June, September

Measurand/Test

Molecular genetic testing for PML-RARα fusion transcripts.

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 May 24, 2023

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

January

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 31, 2023

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

June, October

Measurand/Test

Genomic DNA extraction from any tissue type except FFPE.

Product details last updated on May 24, 2023

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 DNA

Sample volume

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

Schedule

May, September

Measurand/Test

FFPE DNA extraction.

Product details last updated on May 24, 2023

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

June, October

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 May 24, 2023

Thalassaemia (alpha, beta)

This module qualitatively assesses laboratory performance in the detection and interpretation 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

2

Sample Type

DNA

Sample volume

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

Schedule

April, September

Measurand/Test

Molecular genetic testing for HBA1/HBA2 and/or HBB 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 31, 2023