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.

Beckwith-Wiedemann syndrome

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

North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH

Contact with queries

gos-tr.norththamesgenomics@nhs.net

Supporting documents

n/a

Education resources

n/a

Service updates

n/a

Request form download

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form