Services and tests available

The service diagnoses constitutional chromosome anomalies, and acquired chromosome changes associated with malignant disease. This can involve cell culture, and cytogenetic or molecular cytogenetic analysis of different categories. This includes the following groups of referrals:

Constitutional Karyotype, FISH and Microarray

  • Cytogenetic testing for prenatal diagnosis
  • Cytogenetic testing for children including neonates.
  • Cytogenetic testing for adults (constitutional) including referrals for pregnancy losses or fertility issues.
  • Constitutional cytogenetic and microarray testing of solid tissues.
  • Constitutional FISH test investigations.
  • Microarray testing for neurodevelopmental disorders

Cancer Karyotype and FISH analysis

  • Haematological services - Cytogenetic and FISH testing for malignancies in bone marrow and blood samples 
  • Cytogenetic and FISH testing for malignancies in other tissue types. See our acquired FISH probe list.