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.

Severe early-onset obesity

Clinical Indication ID & Name

R149

Severe early-onset obesity

Test Group

Endocrinology

Test code

R149.1

Test name

N/A

Target genes

Severe early-onset obesity (130)

Test scope

n/a

Test method/ technology

WES or Medium panel

Optimal Family Structure

n/a

Eligibility Criteria

BMI more than 3 standard deviations above the mean, with onset before the age of 5 years, in the absence of significant syndromic features, and with no explanation

Test code

R149.2

Test name

N/A

Target genes

Severe early-onset obesity (130)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

BMI more than 3 standard deviations above the mean, with onset before the age of 5 years, in the absence of significant syndromic features, and with no explanation

Commissioning group

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 congenital malformations, dysmorphism or other complex or syndromic presentations

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

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