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Request / Find a test tool

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

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Monogenic short stature

Clinical Indication ID & Name

R453

Monogenic short stature

Test Group

Endocrinology

Specialties

Clinical Genetics Endocrinology Paediatrics

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

• R88 Severe microcephaly test should be used for patients with primary microcephaly – microcephalic dwarfism spectrum. • R52 Short stature – SHOX deficiency test should be used where only a microarray is required • R159 Pituitary hormone deficiency test should be used where more than one pituitary hormone is deficient as the cause of growth failure • R104 Skeletal dysplasia should be considered if overlapping features are present and should be used where clinical features indicative of a likely monogenic skeletal dysplasia • R28 Congenital malformation and dysmorphism syndromes – microarray only

Address for samples/request forms

Please refer to the test request form.

Contact with queries

gos-tr.norththamesgenomics@nhs.net

Supporting documents

n/a

Education resources

n/a

Service updates

n/a

Request form download

Form not available, please contact us to enquire.

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.