Order or find a test

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

R50

Isolated hemihypertrophy or macroglossia

Test Group

Endocrinology

Specialties

Clinical Genetics Paediatrics

Test code

R50.1

Test name

N/A

Target genes

11p15 imprinted growth regulatory region

Test scope

n/a

Test method/ technology

Methylation testing

Optimal Family Structure

n/a

Eligibility Criteria

Isolated hemihypertrophy, OR
Isolated macroglossia

Test code

R50.2

Test name

N/A

Target genes

11p15 imprinted growth regulatory region

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Isolated hemihypertrophy, OR
Isolated macroglossia

Commissioning group

Specialised

Overlapping idications

• R49 Beckwith-Wiedemann syndrome test should be used where additional features suggestive of Beckwith-Wiedemann syndrome are present • R147 Growth failure in early childhood test should be used where additional features suggestive of Silver-Russell syndrome are present • R26 Likely common aneuploidy test should be used where macroglossia occurs in the presence of features suggestive of Down syndrome • R27 Congenital malformation and dysmorphism syndromes – likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with complex or syndromic presentations not suggestive of Beckwith-Wiedemann syndrome, Silver-Russell syndrome or Down syndrome. • R263 Confirmation of uniparental disomy test should be used to confirm likely UPD detected on methylation and copy number testing

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