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

R452

Silver Rusell Syndrome & Temple Syndrome

Test Group

Endocrinology

Test code

R452.1

Test name

N/A

Target genes

Test scope

n/a

Test method/ technology

n/a

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features strongly indicative of a diagnosis of Silver-Russell syndrome, as assessed by the presence of 3 or more of the features below*:
1. Small Gestational Age (birth weight and/or birth length): ≤−2 standard deviation score (SDS) for gestational age
2. Postnatal growth failure: Height at 24 ± 1 months ≤−2 SDS or height ≤−2 SDS below mid-parental target height
3. Relative macrocephaly at birth: Head circumference at birth ≥1.5 SDS above birth weight and/or length
4. Protruding forehead: Forehead projecting beyond the facial plane on a side view as a toddler (1–3 years)
5. Body asymmetry: Leg length discrepancy of ≥0.5 cm or arm asymmetry or leg length discrepancy <0.5 cm with at least two other asymmetrical body parts (one non-face) 6. Feeding difficulties and/or low BMI: BMI ≤−2 standard deviations at 24 months or current use of a feeding tube or cyproheptadine for appetite stimulation *See Wakeling et al 2017, PMID: 27585961 OR Clinical features suggestive or Temple Syndrome

Commissioning group

Specialised

Overlapping idications

n/a

Address for samples/request forms

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.gtabsoutheastglh@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/

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