Clinical Indication ID & Name
Chromosomal mosaicism - microarray
Test Group
Core
Specialties
Test code
R343.1
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Microarray
Optimal Family Structure
n/a
Eligibility Criteria
Hyper- or hypo- pigmentation following Blaschkos lines (Hypomelanosis of Ito), with associated abnormalities such as neurodevelopmental delay, seizures or asymmetry
Commissioning group
Core
Overlapping idications
• R327 Mosaic skin disorders – deep sequencing test should be used where the mosaicism is likely to be caused by a single gene
Address for samples/request forms
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
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