Clinical Indication ID & Name
Chromosomal mosaicism - karyotype
Test Group
Core
Specialties
Test code
R265.1
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Karyotype
Optimal Family Structure
n/a
Eligibility Criteria
Individuals with possible mosaic chromosome abnormality requiring extended count karyotype including:
1. possible mosaic chromosome abnormality indicated by findings from conventional karyotype, microarray, WGS or other laboratory technique, OR
2. clinical features strongly suggestive of a specific chromosomal phenotype, for example Down syndrome, in whom conventional testing is negative
Note: Application of either karyotype or Targeted Chromosome Analysis (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.
Commissioning group
Core
Overlapping idications
• R343 Chromosomal mosaicism - microarray should be used where a microarray is indicated
Address for samples/request forms
Please refer to the test request form.
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection Samples may be rejected for the following reasons: 1. Samples and request form do not show at least three identical patient identifiers 2. The sample is in the incorrect collection media 3. The request form is not sufficiently completed 4. The sample is not of sufficient volume 5. The sample is too old Sample Storage and Volume Required: 5ml of peripheral blood in a lithium heparin bottle. Storage, sample packing and transportation: Samples should arrive within 72 hours (preferably 24 hours) of sampling. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Do not spin down or freeze samples before sending.