Clinical Indication ID & Name
Temple syndrome - maternal uniparental disomy 14
Test Group
Endocrinology
Specialties
Test code
R267.1
Test name
N/A
Target genes
UPD14 critical region
Test scope
n/a
Test method/ technology
Methylation testing
Optimal Family Structure
n/a
Eligibility Criteria
1. Confident clinical diagnosis of xeroderma pigmentosum plus specific XP-related features in the eye, neurological system or a related cancer, OR
2. Confident clinical diagnosis of trichothiodystrophy, OR
3. Confident clinical diagnosis of Cockayne syndrome
Commissioning group
Specialised
Overlapping idications
• R27 Congenital malformation and dysmorphism syndromes – likely monogenic or • R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with congenital malformations, dysmorphism or other complex or less recognisable presentations
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