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Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R267

Temple syndrome - maternal uniparental disomy 14

Test Group

Endocrinology

Specialties

Clinical Genetics Dermatology

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

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

Rare Disease Order Form Record of Discussion Form

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:
Perirpheral 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:
Blood should be stored at 4°C where possible. Send at room temperature by first class post or by courier.

Patient/Clinician Instructions:
N/A

Factors affecting performance of test/interpretation of results:
Clotted samples are unsuitable for DNA analysis. Blood Samples in incorrect anticoagulant tubes may be rejected.