Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome estimated to affect between 1 in 10,000 and 1 in 15,000 newborns. Symptoms of BWS can be variable between affected individuals with common features including an enlarged tongue (macroglossia), above average birth weight (macrosomia), hypoglycemia, and abdominal wall defects. Most cases of BWS result from alterations in gene regulation at one of two imprinted regions of chromosome 11; H19DMR (IC1) and KvDMR (IC2). BWS can also be caused by paternal uniparental disomy (UPD), and less commonly, by pathogenic variants in the CDKN1C gene or small translocations and deletions of chromosome 11.

NHSE test directory code: R49 Beckwith-Wiedemann syndrome.

Visit the NHS Genomic Test Directory 

To help you, please use tools such as the National Genomic Test Directory to check for available tests and eligibility criteria. You can also find gene panels approved for use within the Genomic Medicine Service (GMS) in PanelApp

This lists the clinical specialties that would be expected to request for a given clinical indication and sets out which patients should be considered for testing.

All samples for genomic testing should be accompanied by a fully completed request form

The request form should include as much clinical information about the patient or family member, family relationships and the requested test code (R number). All request forms must indicate either a specific disorder/gene(s) to be investigated or, a request to extract and store DNA.

This form should be used for the majority of test requests.

Please do not download and store this on your desktop or system. The form is regularly updated. Our recommendation is to save or bookmark a link to our website to ensure you are working with the most up-do-date version.

Download the latest version here: GMS Test Order Form v2.3

In submitting a sample with a request form, the clinician confirms that informed consent has been
obtained for (a) testing and storage (indefinitely) (b) the use of this sample and the information
generated from it to be shared with members of the donor’s family and their health professionals (if
appropriate). The patient should be advised that the samples may be used anonymously for quality
assurance and training purposes.

For more information please view the Consent and Confidentiality in Genomic Medicine guidelines from the Joint Committee on Medical Genetics.

Samples must be labelled with:

• the patient’s full name
• the patient’s date of birth
• NHS or genetics number
• date and time sample was collected

Blood

Please send at least two 4ml EDTA blood samples (1ml minimum for neonates, 5-10ml for
children and 10-20ml for adults). Samples should be transported at ambient temperature. Blood
samples in glass bottles are not accepted by the laboratory. Blood samples should be received by
our laboratory within 5 days of venesection. Do not freeze blood samples – if storage is required
prior to dispatch, blood samples can be stored at 4ºC (39.2ºF).

DNA

Please send a minimum of 5μg of DNA. DNA samples can be sent at room temperature.

Other: In special circumstances, a saliva sample is acceptable. Please contact the laboratory for
sample collection kits and/or instructions for collection (Oragene). Please contact the laboratory
prior to sending any other samples (e.g. paraffin-embedded tissue sections).

High Risk samples

It should be noted that blood samples from patients who are likely to be Hepatitis B antigen or HIV
positive, who have infectious hepatitis or who are jaundiced without obvious cause are potentially
dangerous to all who handle them. Blood from febrile, undiagnosed patients, especially from
abroad, may also be dangerous. Great care should be observed when submitting these samples for
laboratory investigations, with strict adherence to the recognised methods of handling, particularly:

1. Forms and sample bottles must be clearly marked with a warning sticker
2. The samples must be sealed within two plastic bags
3. The accompanying form must not come into contact with the sample

Packaging and posting

Please send samples by first class post or courier. Packaging should comply with UN3373
regulations for packaging and transportation of samples (See Table A4 in ‘Biological agents:
managing the risks in laboratories and healthcare premises’:

1. The sample should be wrapped in enough tissue to absorb the entire contents of the tube in the
event of a breakage.
2. Seal the tissue with tape and place it into a specimen bag and seal.
3. Samples should then be placed in a sample box or padded envelope along with a copy of the
referral information and the package marked ‘Pathological Specimen – Fragile With Care’.

Laboratory address:
Department of Molecular Genetics
RILD level 3
Royal Devon University Healthcare NHS Foundation Trust
Barrack Road
Exeter, EX2 5DW

For a full list of sample requirements and transport guidance, please visit the samples and transport page of the website.