Clinical Indication ID & Name
Incontinentia pigmenti
Test Group
Dermatology
Specialties
Test code
R239.1
Test name
N/A
Target genes
IKBKG
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Confident clinical diagnosis of incontinentia pigmenti
Test code
R239.2
Test name
N/A
Target genes
IKBKG (1347)
Test scope
n/a
Test method/ technology
Targeted variant testing
Optimal Family Structure
n/a
Eligibility Criteria
Confident clinical diagnosis of incontinentia pigmenti
Commissioning group
Specialised
Overlapping idications
• If the presentation is not specific to incontinentia pigmenti, please use one of the broader tests, for example the R165 Ichthyosis and erythrokeratoderma, R163 Ectodermal dysplasia or R236 Pigmentary skin disorders tests
Address for samples/request forms
Witihin working hours:
South East GLH
Genetics Specimen Reception
5th floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Outside of working hours:
Central Specimen Reception
4th floor Southwark Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
gst.tr-southeastglh.nhs.net
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
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