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
