Clinical Indication ID & Name
Silver Rusell Syndrome & Temple Syndrome
Test Group
Endocrinology
Specialties
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
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