Molecular Genetics
JAK2
This module qualitatively assesses laboratory performance in the detection of the Janus Kinase 2 (JAK2) gene variant p.Val617Phe.
Frequency / Number of samples
1 survey / 8 samples per survey (DNA in TE buffer)
Tests
Molecular genetic analysis; variant screening of the JAK2 gene
Kennedy’s Disease
This is a sample exchange program where participating laboratories provide specimens to RCPAQAP, which will be de-identified, re-labelled and distributed. This program assesses laboratory performance in the detection of mutations in the androgen receptor (AR) gene.
Frequency / Number of samples
1 survey / 3 samples per survey (DNA in TE buffer)
Tests
Molecular genetic analysis; Mutation screening of the AR gene
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
MGMT Hypermethylation
This is a sample exchange program where participating laboratories provide specimens to RCPAQAP, which will be de-identified, re-labelled and distributed. This program assesses laboratory performance in 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
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 FFPE tissue)
Tests
Molecular genetic analysis; FFPE DNA extraction; variant screening of the KRAS and NRAS genes
Mutation Detection in Colorectal Cancer – Paperwork
No samples provided, this option is available to manufacturers only
Frequency / Number of samples
1 survey / 1 generic report
Tests
n/a
Mutation Detection in Lung Cancer (NSCLC)
TThis 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 FFPE tissue)
Tests
Molecular genetic analysis; FFPE DNA extraction; variant screening of the EGFR gene
Mutation Detection in Lung Cancer (NSCLC) – Paperwork
No samples provided, this option is available to manufacturers only
Frequency / Number of samples
1 survey / 1 generic report
Tests
n/a
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 FFPE tissue)
Tests
Molecular genetic analysis; FFPE DNA extraction; variant screening of the BRAF and NRAS genes
Mutation Detection in Melanoma – Paperwork
No samples provided, this option is available to manufacturers only
Frequency / Number of samples
1 survey / 1 generic report
Tests
n/a
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
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
