Molecular Genetics

Maternal Cell Contamination

This module qualitatively and quantitatively assesses laboratory performance in the detection and interpretation of maternal cell contamination in prenatal samples.

Frequency / Number of samples

1 survey / 3 family trios (DNA in TE buffer)

Tests

Maternal cell contamination studies

Product details last updated on March 15, 2019

MGMT Hypermethylation

This is a sample exchange program where participating laboratories provide specimens to RCPAQAP. These will be de-identified, re-labelled and distributed. This program assesses laboratory performance for the detection of Methylguanine-DNA Methyltransferase (MGMT) gene promoter methylation.

Frequency / Number of samples

1 survey / 3 samples per survey (Patient-derived FFPE tissue)

Tests

Molecular genetic analysis to determine methylation status of the MGMT gene

Product details last updated on August 13, 2019

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.

Frequency / Number of samples

1 survey / 5 samples per survey (Patient-derived and synthetic FFPE tissue)

Tests

Molecular genetic analysis; FFPE DNA extraction; variant screening of the KRAS and NRAS genes

Product details last updated on August 13, 2019

Mutation Detection in Colorectal Cancer – Generic Report only

No samples provided, this option is available to manufacturers only

Frequency / Number of samples

1 survey / 1 generic report

Tests

n/a

Product details last updated on August 13, 2019

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.

Frequency / Number of samples

1 survey / 5 samples per survey (Patient-derived and synthetic FFPE tissue)

Tests

Molecular genetic analysis; FFPE DNA extraction; variant screening of the EGFR gene

Product details last updated on August 13, 2019

Mutation Detection in Lung Cancer (NSCLC) – Generic Report only

No samples provided, this option is available to manufacturers only

Frequency / Number of samples

1 survey / 1 generic report

Tests

n/a

Product details last updated on August 13, 2019

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.

Frequency / Number of samples

1 survey / 5 samples per survey (Patient-derived and synthetic FFPE tissue)

Tests

Molecular genetic analysis; FFPE DNA extraction; variant screening of the BRAF and NRAS genes

Product details last updated on August 13, 2019

Mutation Detection in Melanoma – Generic Report only

No samples provided, this option is available to manufacturers only.

Frequency / Number of samples

1 survey / 1 generic report

Tests

n/a

Product details last updated on August 13, 2019

Myeloproliferative Neoplasms (JAK2, CALR, MPL)

This module qualitatively assesses laboratory performance in the detection of genetic variants associated with myeloproliferative neoplasms which include genes Janus Kinase 2 (JAK2), Calreticulin (CALR) and Myeloproliferative Leukaemia (MPL).

Frequency / Number of samples

2 survey / 4 samples per survey (DNA in TE buffer)

Tests

Molecular genetic analysis; variant screening of the JAK2, CALR and MPL genes

Product details last updated on August 15, 2019

NPM1

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

Frequency / Number of samples

1 survey / 3 samples per survey (DNA in TE buffer)

Tests

Molecular genetic analysis; variant screening of the NPM1 gene

Product details last updated on March 15, 2019

PML/RARα

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

Frequency / Number of samples

1 survey / 3 samples per survey (Lyophilised RNA)

Tests

Molecular genetic analysis to determine PML-RARα gene translocation status

Product details last updated on August 14, 2019

PTEN

This is a sample exchange program where participating laboratories provide specimens to RCPAQAP. These will be de-identified, re-labelled and distributed. This program assesses laboratory performance for the detection of variants in the phosphatase and tensin homolog (PTEN) gene.

Frequency / Number of samples

1 survey / 3 samples per survey (DNA in TE buffer)

Tests

Molecular genetic analysis; variant screening of the PTEN gene

Product details last updated on August 13, 2019