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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

R49

Beckwith-Wiedemann syndrome

Test Group

Endocrinology

Specialties

Cancer Clinical Genetics Endocrinology Neonatology Paediatrics

Test code

R49.1

Test name

N/A

Target genes

11p15 imprinted growth regulatory region

Test scope

n/a

Test method/ technology

Methylation testing

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features suggestive of Beckwith-Wiedemann syndrome defined as:
1. One or more cardinal feature, OR
2. Two or more suggestive features
Cardinal features
• Macroglossia*
• Exomphalos
• Lateralized overgrowth*
• Multifocal and/or bilateral Wilms tumour or nephroblastomatosis
• Hyperinsulinism (lasting >1 week and requiring escalated treatment)
• Pathology findings: adrenal cortex cytomegaly, placental mesenchymal dysplasia or pancreatic adenomatosis

Suggestive features:
• Birthweight >2 SDS above the mean
• Facial naevus simplex
• Polyhydramnios and/or placentomegaly
• Ear creases and/or pits
• Transient hypoglycaemia (lasting <1 week) • Typical Beckwith–Wiedemann spectrum tumours (neuroblastoma, rhabdomyosarcoma, unilateral Wilms tumour, hepatoblastoma, adrenocortical carcinoma or phaeochromocytoma) • Nephromegaly and/or hepatomegaly • Umbilical hernia and/or diastasis recti See Brioude et al 2018, PMID: 29377879

Test code

R49.2

Test name

N/A

Target genes

11p15 imprinted growth regulatory region

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features suggestive of Beckwith-Wiedemann syndrome defined as:
1. One or more cardinal feature, OR
2. Two or more suggestive features
Cardinal features
• Macroglossia*
• Exomphalos
• Lateralized overgrowth*
• Multifocal and/or bilateral Wilms tumour or nephroblastomatosis
• Hyperinsulinism (lasting >1 week and requiring escalated treatment)
• Pathology findings: adrenal cortex cytomegaly, placental mesenchymal dysplasia or pancreatic adenomatosis

Suggestive features:
• Birthweight >2 SDS above the mean
• Facial naevus simplex
• Polyhydramnios and/or placentomegaly
• Ear creases and/or pits
• Transient hypoglycaemia (lasting <1 week) • Typical Beckwith–Wiedemann spectrum tumours (neuroblastoma, rhabdomyosarcoma, unilateral Wilms tumour, hepatoblastoma, adrenocortical carcinoma or phaeochromocytoma) • Nephromegaly and/or hepatomegaly • Umbilical hernia and/or diastasis recti See Brioude et al 2018, PMID: 29377879

Test code

R49.3

Test name

N/A

Target genes

CDKN1C

Test scope

n/a

Test method/ technology

Single gene sequencing >=10 amplicons

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features suggestive of Beckwith-Wiedemann syndrome defined as:
1. One or more cardinal feature, OR
2. Two or more suggestive features
Cardinal features
• Macroglossia*
• Exomphalos
• Lateralized overgrowth*
• Multifocal and/or bilateral Wilms tumour or nephroblastomatosis
• Hyperinsulinism (lasting >1 week and requiring escalated treatment)
• Pathology findings: adrenal cortex cytomegaly, placental mesenchymal dysplasia or pancreatic adenomatosis

Suggestive features:
• Birthweight >2 SDS above the mean
• Facial naevus simplex
• Polyhydramnios and/or placentomegaly
• Ear creases and/or pits
• Transient hypoglycaemia (lasting <1 week) • Typical Beckwith–Wiedemann spectrum tumours (neuroblastoma, rhabdomyosarcoma, unilateral Wilms tumour, hepatoblastoma, adrenocortical carcinoma or phaeochromocytoma) • Nephromegaly and/or hepatomegaly • Umbilical hernia and/or diastasis recti See Brioude et al 2018, PMID: 29377879

Commissioning group

Specialised

Overlapping idications

• R27 Congenital malformation and dysmorphism syndromes - likely monogenic test should be used for overgrowth syndromes where Beckwith-Wiedemann syndrome is unlikely • R50 Isolated hemihypertrophy or macroglossia test should be used where those features are present in isolation • R263 Confirmation of uniparental disomy test should be used to confirm likely UPD detected on methylation and copy number testing

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

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