Clinical Indication ID & Name
Cytogenetic characterisation of a genomic abnormality – Karyotype or Targeted Chromosome Analysis
Test Group
Core
Test code
R463.1
Test name
Cytogenetic characterisation of a genomic abnormality – Karyotype or Targeted Chromosome Analysis
Target genes
Test scope
copy number variant detection to genomewide resolution and structural variants or TCA
Test method/ technology
Karyotype/TCA
Optimal Family Structure
n/a
Eligibility Criteria
Testing Criteria
Proband with possible structural chromosomal rearrangement requiring karyotype or targeted chromosome analysis (TCA), such as Robertsonian translocation, reciprocal translocation, ring chromosome, or other microscopically visible structural rearrangement, either indicated by, or alongside, findings from aneuploidy testing, microarray, WGS or other laboratory techniques. [TCA/Karyotype as appropriate]
NB: Application of either karyotype or TCA will be directed by professional judgement, best practice recommendation, clinical context and/or the type of cytogenetic rearrangement(s) detected. Due to the nature of cytogenetic analysis, reportable cytogenetic incidental findings may be detected during TCA.
Where in Pathway
At presentation or as indicated by previous testing
Commissioning group
n/a
Overlapping idications
n/a
Address for samples/request forms
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
n/a
Request form download
n/a
Consent record
n/a
Sample requirements
n/a