Molecular Genetics

Thalassaemia (alpha, beta)

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

Catalogue Number

23230102

Frequency (No of surveys/year)

2

Cases/samples per survey

2

Sample Type

DNA

Sample volume

Up to 1.5µg of purified DNA in TE pH 8.0 provided in each case

Schedule

May, October

Measurand/Test

Molecular genetic testing for HBA1/HBA2 and/or HBB gene variants.

Storage and Handling

Upon receipt, store samples at 2-8°C or according to your standard operating procedure

Additional Comments

Available to order in myQAP under the Haematology Discipline


Product details last updated on August 21, 2024

Thrombosis (F5, F2)

This module qualitatively assesses laboratory performance in the detection of coagulation factor V (F5) and coagulation factor II, thrombin (F2) gene variants.

Catalogue Number

23240102

Frequency (No of surveys/year)

2

Cases/samples per survey

2

Sample Type

DNA

Sample volume

1µg of purified DNA in TE pH 8.0 provided in each case

Schedule

February, July

Measurand/Test

Molecular genetic testing for F5 and F2 gene variants.

Storage and Handling

Upon receipt, store samples at 2-8°C or according to your standard operating procedure

Additional Comments

Available to order in myQAP under the Haematology Discipline


Product details last updated on August 21, 2024

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 chronic lymphocytic leukaemia (CLL) using fluorescence in-situ hybridisation (FISH).

Catalogue Number

23250102

Frequency (No of surveys/year)

1

Cases/samples per survey

2

Sample Type

Interphase nuclei (bone marrow)

Sample volume

Two slides provided in each case

Schedule

July

Measurand/Test

Fluorescence in situ hybrisation testing for TP53 deletion in 17p13.1

Storage and Handling

Upon receipt, store samples at room temperature or according to your standard operating procedure

Additional Comments

Available to order in myQAP under the Haematology Discipline


Product details last updated on August 21, 2024