Clinical Indication ID & Name
Monogenic short stature
Test Group
Endocrinology
Specialties
Test code
R453.1
Test name
N/A
Target genes
Growth failure in early childhood (473)
Test scope
n/a
Test method/ technology
WES or Medium Panel
Optimal Family Structure
n/a
Eligibility Criteria
Height/length more than 3 standard deviations below the mean at the age of at least 2 years in the absence of microcephaly, OR
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. SGA (birth weight and/or birth length): ≤−2 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 SDS
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 SDS at 24 months or current use of a feeding tube or cyproheptadine for appetite stimulation
*See Wakeling et al 2017, PMID: 27585961
Test code
Test name
N/A
Target genes
11p15 imprinted growth regulatory region and UPD7 growth regulatory critical region
Test scope
n/a
Test method/ technology
Methylation testing
Optimal Family Structure
n/a
Eligibility Criteria
Height/length more than 3 standard deviations below the mean at the age of at least 2 years in the absence of microcephaly, OR
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. SGA (birth weight and/or birth length): ≤−2 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 SDS
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 SDS at 24 months or current use of a feeding tube or cyproheptadine for appetite stimulation
*See Wakeling et al 2017, PMID: 27585961
Test code
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Height/length more than 3 standard deviations below the mean at the age of at least 2 years in the absence of microcephaly, OR
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. SGA (birth weight and/or birth length): ≤−2 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 SDS
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 SDS at 24 months or current use of a feeding tube or cyproheptadine for appetite stimulation
*See Wakeling et al 2017, PMID: 27585961
Test code
Test name
N/A
Target genes
Growth failure in early childhood (473)
Test scope
n/a
Test method/ technology
n/a
Optimal Family Structure
n/a
Eligibility Criteria
Height/length more than 3 standard deviations below the mean at the age of at least 2 years in the absence of microcephaly, OR
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. SGA (birth weight and/or birth length): ≤−2 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 SDS
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 SDS at 24 months or current use of a feeding tube or cyproheptadine for appetite stimulation
*See Wakeling et al 2017, PMID: 27585961
Commissioning group
Specialised
Overlapping idications
- R452 Silver Russell Syndrome and Temple Syndrome - R88 Severe microcephaly – if the presentation includes severe microcephaly - R27 Paediatric disorders – if the presentation appears syndromic - R52 Short stature – SHOX deficiency - please order this test if you suspect SHOX deficiency as SHOX is not included on the panel test for short stature due to technical limitations. - R104 Skeletal dysplasia – if there is disproportion or a skeletal survey suggestive of primary bone pathology (outside of the SHOX remit) - R26 Likely common aneuploidy for suspected Turner Syndrome
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 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.