Services

  • Confirmatory genetic testing for Beckwith Wiedemann syndrome (11p15 methylation and CDKN1C).
  • Confirmatory genetic testing for Russell Silver syndrome (11p15 methylation and UPD7).
  • Genetic testing for Denys Drash syndrome, Frasier syndrome and steroid resistant nephrotic syndrome (WT1-associated).
  • Genetic testing for Wilms tumour predisposition (WT1 and 11p15).
  • Genetic testing for Image Syndrome (CDKN1C associated).
  • Genetic testing for SMARCB1-associated rhabdoid tumour.
  • Genetic testing for SMARCB1-associated Coffin Siris syndrome.
  • Genetic testing for SMARCB1-associated schwannomatosis
  • Genetic testing for Prader Willi and Angelmans syndrome (methylation and copy number).
  • IDH1, IDH2
  • Molecular analysis of paediatric leukaemia translocations, ALL and AML.
  • Molecular analysis of sarcoma translocations including Ewings sarcoma, Alveolar rhabdomyosarcoma and Desmoplastic small round cell tumour.
  • Molecular testing for pilocytic astrocytoma (BRAF-KIAA1549).
  • Loss of heterozygosity testing in Wilms tumour (1p/16q).
  • Loss of heterozygosity and deletion testing in oligodendroglioma (1p/19q).
  • IKAROS deletion testing in B-cell acute lymphoblastic leukaemia.
  • Molecular testing for myeloproliferative neoplasms (JAK2 V617F, JAK2 exon 12 & Calreticulin exon 9).
  • EGFR exon 18-21 mutation testing in lung cancer.
  • KRAS mutation testing.
  • NRAS mutation testing.
  • BRAF mutation testing.
  • MGMT methylation analysis.
  • Histone H3F3An H3F3B and HISTH3B mutation screen (K27M and G34R).
  • DNA and RNA extraction from blood and tissues including bonemarrow, fixed tissue, buccal cells and skin, for specialized genetic testing.
  • Molecular monitoring of BCR-ABL transcripts in CML to International Standard.
  • Molecular diagnosis of BCR-ABL positive CML and ALL (p210 and p190).
  • Molecular detection of NPM-ALK fusion in Anaplastic Large Cell Lymphoma.
  • Molecular monitoring of WT1 expression in leukaemia and myelodysplasia.
  • Molecular detection of CSF3R mutations in exons 14 and 17.

Specimen requirements may be found in the online specimen collection manual.

The following tests are under development and will be available soon:

  • MPL1

The laboratory is presently developing and testing gene panels for malignant conditions.