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 Large 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
R107.2
Test name
N/A
Target genes
Bardet Biedl syndrome (543)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
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 Congenital malformation and dysmorphism syndromes – likely monogenic 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 Bardet-Biedl syndrome specifically
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
n/a
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