Clinical Indication ID & Name
Bardet Biedl syndrome
Test Group
Ophthalmology
Specialties
Test code
R107.1
Test name
N/A
Target genes
Bardet Biedl syndrome (543)
Test scope
n/a
Test method/ technology
WES or Small Panel
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features strongly indicative of a diagnosis of Bardet-Biedl syndrome including four or more primary features or three primary features and two or more secondary features:
1. Primary features:
a. Retinal dystrophy
b. Renal abnormalities
c. Obesity
d. Polydactyly
e. Learning difficulties
f. Hypogonadism in males
2. Secondary features:
a. Speech disorder/delay
b. Strabismus/cataracts/astigmatism
c. Brachydactyly/syndactyly
d. Developmental delay
e. Polyuria/polydipsia
f. Ataxia/poor coordination/imbalance
Test code
Test name
N/A
Target genes
Test scope
n/a
Test method/ technology
n/a
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features strongly indicative of a diagnosis of Bardet-Biedl syndrome including four or more primary features or three primary features and two or more secondary features:
1. Primary features:
a. Retinal dystrophy
b. Renal abnormalities
c. Obesity
d. Polydactyly
e. Learning difficulties
f. Hypogonadism in males
2. Secondary features:
a. Speech disorder/delay
b. Strabismus/cataracts/astigmatism
c. Brachydactyly/syndactyly
d. Developmental delay
e. Polyuria/polydipsia
f. Ataxia/poor coordination/imbalance
Commissioning group
Highly Specialised
Overlapping idications
• R27 Paediatric disorders or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with overlapping or atypical presentations where features are not characteristic of BardetBiedl syndrome specifically Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family.
Address for samples/request forms
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
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
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.