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

R417

Multi Locus Imprinting Disorder (MLID)

Test Group

Endocrinology

Specialties

Clinical Genetics Endocrinology Paediatrics Genomics Laboratory

Test code

R417.1

Test name

N/A

Target genes

Multi Locus imprinted genes on chromosomes: 6, 7, 11, 14, 15, 19, 20. (PLAGL1, GRB10, MEST, H19, KCNQ1, GTL2, SNRPN, PEG3, GNAS)

Test scope

n/a

Test method/ technology

MLPA

Optimal Family Structure

n/a

Eligibility Criteria

R417.1
A positive molecular diagnosis of an imprinting disorder resulting from, an imprinting disturbance (eg. Beckwith Wiedemann syndrome due to hypomethylation of KCNQ1OT1TSS-DMR (IC2) or Silver-Russell syndrome due to hypomethylation of H19-IGF2 IG-DMR (IC1), but not an imprinting disorder caused by a copy number variant or uniparental disomy)

MILD testing may occasionally be appropriate in patients in whom an imprinting disorder is suspected, after expert clinical examination and discussion with Clinical Genetics, but where standard of care testing has not confirmed a molecular diagnosis.

Test code

R417.2

Test name

N/A

Target genes

NLRP5, NLRP7, NLRP2, PAD16, KHDC3L

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

R417.2
A positive molecular diagnosis of MLID: i.e. imprinting disturbance involving two or more imprinted loci.

Sequencing must be performed on the proband and mother for genes in panel R417.2.

Commissioning group

Specialised

Overlapping idications

• R143 Neonatal diabetes (ZFP57)

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

Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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