• 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 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).
  • 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 bone marrow, 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.
  • MPL1

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

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