Molecular Genetics

Quality Assessment of DNA Extracts

This module assesses laboratory perfomance in the extraction of total genomic DNA from various tissue types (except FFPE tissue). Participants will be required to extract and return up to five DNA samples of their choice to the RCPAQAP for external quality assessment.

Frequency / Number of samples

1 survey / 5 samples per survey (DNA from various tissue types (except FFPE tissue) submitted)

Tests

Total genomic DNA extraction

Product details last updated on August 13, 2019

Quality Assessment of FFPE DNA Extracts

This module assesses laboratory perfomance in the extraction of total genomic DNA from FFPE tissue. Participants will be required to extract and return up to five DNA samples of their choice to the RCPAQAP for external quality assessment.

Frequency / Number of samples

1 survey / 5 samples per survey (DNA from FFPE tissue submitted)

Tests

Total genomic DNA extraction

Product details last updated on August 13, 2019

Sanger DNA Sequencing

This is a technical module to assess laboratory performance in Sanger sequencing. There are two components in this module, technical and diagnostic. For the technical component, participants are required to submit their raw sequencing data files for analysis. For the diagnostic component, participants are required to report and interpret the genetic DNA variants detected.

Frequency / Number of samples

1 survey (4 sequencing reactions) / 2 samples (PCR products)

Tests

PCR product clean-up; Post-sequencing clean-up; Sanger sequencing

Product details last updated on August 13, 2019

Thalassaemia (alpha, beta)

This module qualitatively assesses laboratory performance in the detection of α-thalassemia (HBA1/HBA2) and/or β-thalassemia (HBB) gene variants.

Frequency / Number of samples

2 surveys / 3 samples per survey (DNA in TE buffer)

Tests

Molecular genetic analysis; Mutation screening of the HBA1/HBA2 and HBB genes

Product details last updated on March 15, 2019

Thrombosis (F5, F2, MTHFR)

This module qualitatively assesses laboratory performance in the detection of Factor V Leiden, Methylenetetrahydrofolate reductase and Prothrombin variants.

Frequency / Number of samples

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

Tests

Molecular genetic analysis; variant screening of the F2, F5 and MTHFR genes

Product details last updated on August 13, 2019

TP53 Deletions at 17p13.1 in CLL (FISH)

In collaboration with Australasian Society of Diagnostic Genomics (ASDG), this module qualitatively assesses laboratory performance in the detection of TP53 deletions at 17p13.1 in CLL using fluorescence in-situ hybridisation (FISH).

Frequency / Number of samples

1 survey / 3 samples per survey (Interphase nuclei -Fixed cells on slides)

Tests

Molecular/cytogenetic analysis of TP53 deletion in 17p13.1

Product details last updated on August 15, 2019