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The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R158

Lipodystrophy - childhood onset

Test Group

Endocrinology

Specialties

Clinical Genetics Endocrinology

Test code

R158.1

Test name

N/A

Target genes

Lipodystrophy - childhood onset (546)

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

Individuals with a clinical diagnosis of childhood onset lipodystrophy, with features likely to include lipoatrophy affecting the trunk, limbs and face, acromegaloid features, progeroid features, hepatomegaly, elevated serum triglycerides and severe insulin resistance with early development of diabetes,
AND
Acquired causes have been excluded
OR
Individuals with the following features of severe insulin resistance:
• Acanthosis nigricans
OR
• A fasting insulin >150pmol/l if not insulin treated OR if insulin treated an insulin requirement >3U/kg/day
AND
Are not obese (BMI <30kg/m2 if white (<95th centile for weight in children) or BMI <27kg/m2 (<95th centile for weight in children) if high prevalence type 2 diabetes group).

Test code

R158.2

Test name

N/A

Target genes

Lipodystrophy - childhood onset (546)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Individuals with a clinical diagnosis of childhood onset lipodystrophy, with features likely to include lipoatrophy affecting the trunk, limbs and face, acromegaloid features, progeroid features, hepatomegaly, elevated serum triglycerides and severe insulin resistance with early development of diabetes,
AND
Acquired causes have been excluded
OR
Individuals with the following features of severe insulin resistance:
• Acanthosis nigricans
OR
• A fasting insulin >150pmol/l if not insulin treated OR if insulin treated an insulin requirement >3U/kg/day
AND
Are not obese (BMI <30kg/m2 if white (<95th centile for weight in children) or BMI <27kg/m2 (<95th centile for weight in children) if high prevalence type 2 diabetes group).

Commissioning group

Highly Specialised

Overlapping idications

• R141 Monogenic diabetes test should be used for adult onset lipodystrophy with insulin resistance or diabetes • 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

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

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

Rare Disease Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

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