- 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.