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.

Bardet Biedl syndrome

Clinical Indication ID & Name

R107

Bardet Biedl syndrome

Test Group

Ophthalmology

Specialties

Clinical Genetics Nephrology Ophthalmology

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

gos-tr.norththamesgenomics@nhs.net

Supporting documents

Rare Disese WGS Clinician pack

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