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