Testing Services

The following Cytogenetics and Molecular Genetics tests are performed in our Genetic Diagnostics Laboratory:

Test CodeTest DescriptionIndicationsSampleTurn Around TimePrice
HGU001α Thalassemia Deletion Testα ThalassaemiaBlood7 Days4000
HGU002b Thalassemia Point Mutation Testb ThalassaemiaBlood7 Days6000
HGU003b Thalassemia 619bp Deletion Testb ThalassaemiaBlood7 Days2000
HGU004HFE C282Y and H63D Mutation Testing Hereditary HaemachromotosisBlood7 Days3500
HGU005JAK2 V617F Mutation TestMyeloproliferative Neoplasms [e.g. Polycythemia Rubra Vera]Blood7 Days3500
HGU006Thrombophilia Screening [MTHFR 677C>T; F2 [Prothrombin] 20210G>A, F5 1691G>A [Leiden]Thromboembolic ConditionsBlood7 Days4000
HGU007PCR for SRYVirilized FemalesBlood7 Days3000
HGU008EGFR Mutation TestPredict response to tyrosine kinase inhibitor (TKI) therapyTumour Tissue7 Days4000
HGU009TPMT Mutation TestPredict adverse reactions to thiopurine drugsBlood7 Days4000
HGU010K-Ras Mutation TestPredict response to EGFR blockersTumour Tissue7 Days6500
HGU011BRAF V600E Mutation TestColorectal CancerTumour Tissue7 Days4000
HGUK01Blood KaryotypeCongential Abnormalities, Development Delay, Mental Retardation, Disorders of Sexual Development, Ammenorrhoea, Subfertility, Haematological Malignancies and Other Haematological ConditionsBlood28 Days5000
HGUK02Bone Marrow KaryotypeHaematological Maliganancies and Other Haematological ConditionsBone Marrow14 Days6000
HGUF001FISH - BCR/ABLChronic Myeloid Leukaemia (AML) and Acute Lymhocytic Leukaemia (ALL)Blood/Bone Marrow7 Days13000
HGUF002FISH - MLL rearrangentsAcute Lymphocytic Leukaemia (ALL) and Acute Myeloid Leukaemia (AML)Blood/Bone Marrow7 Days13000
HGUF003FISH - t(12;21)(p13;q22);TEL-AML1 (ETV6-RUNXI)Acute Lymophocytic Leukaemia (ALL)Blood/Bone Marrow7 Days13000
HGUF004FISH - TCF3Acute Lymophocytic Leukaemia (ALL)Blood/Bone Marrow7 Days13000
HGUF005FISH - IGHLymphoma (NHL) and T-ALLBlood/Bone Marrow7 Days13000
HGUF006FISH - t(8;21)(q22;q22); RUNX1-RUNX1T1Acute Myeloid Leukaemia (AML)Blood/Bone Marrow7 Days13000
HGUF007FISH - inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11Acute Myeloid Leukaemia (AML)Blood/Bone Marrow7 Days13000
HGUF008FISH - t(15;17)(q22;q12); PML-RARAAcute Myeloid Leukaemia (AML)Blood/Bone Marrow7 Days13000
HGUF009FISH - 5qMyelodysplastic Syndromes (MDS)Blood/Bone Marrow7 Days13000
HGUF010FISH - 7qMyelodysplastic Syndromes (MDS)Blood/Bone Marrow7 Days13000

Sample Collection and Transportation

Prior to collecting samples, patients should be offered pre-test genetic counseling and written informed consent obtained from them. Test requisition/consent forms and specimen containers can be obtained by contacting the Human Genetics Unit.


Please transport samples to the lab as fast as possible after collection. If delays are anticipated, send them in a cool box but do not freeze samples. All samples should reach the lab between 8:30 am – 3:00 pm from Monday to Friday (except public holidays).