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
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
Form not available, please contact us to enquire.
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: Peripheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (3-5µg of purified DNA). Where it is not possible to collect peripheral blood we will accept a saliva sample (please contact the lab for specific details). Storage, sample packing and transportation: Samples should arrive within 72 hours Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: DNA extracted using Chelex/Instagene methods is not suitable for this test. Sample Storage and Volume Required: Peripheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (3-5µg of purified DNA). Where it is not possible to collect peripheral blood we will accept a saliva sample (please contact the lab for specific details). Storage, sample packing and transportation: Samples should arrive within 72 hours Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: DNA extracted using Chelex/Instagene methods is not suitable for this test.