Clinical Indication ID & Name
Beckwith-Wiedemann syndrome
Test Group
Endocrinology
Specialties
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
Supporting documents
Rare Disese WGS Clinician pack
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form