Cytogenetic Investigations for Tissue-specific Moscaicism
Description:
Skin biopsies are tested using a combination of QF-PCR (quantitative fluorescent PCR) and aCGH (array comparative genomic hybridization). This strategy allows detection of tissue specific mosaicism for common aneuploidies, triploidy, and other chromosome imbalance.
An extended screen for mosaicism can be offered to patients where clinical features are strongly suggestive of a specific chromosomal phenotype, for e.g. Down Syndrome, in whom conventional testing is negative
An extended screen for mosaicism can be offered to patients where clinical features are strongly suggestive of a specific chromosomal phenotype, for e.g. Down Syndrome, in whom conventional testing is negative
Department:
Location:
Sample type and Volume required:
Full thickness skin biopsy or other tissue, as available, in a dry sterile container.
Turnaround time:
42 days
Special sample instructions:
Request form available at: https://southeastgenomics.nhs.uk/wp-content/uploads/2023/08/SE-GLH-Non-WGS-Genetic-Test-Request-Form-August-2023-v1.5.pdf
- R265 Chromosomal mosaicism – karyotype
Include the relevant R code (above) on the referral form; for further details and the eligibility criteria for testing please see https://www.england.nhs.uk/publication/national-genomic-test-directories/
Storage and transport:
Dry, sterile, air-tight container without fixatives or preservatives. Skin biopsies or small samples of other solid tissue should be placed in a standard tissue culture medium.
Cost:
On application
Contacts:
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory:
Last updated: 26/10/2023
