Clinical Indication ID & Name
Multi Locus Imprinting Disorder (MLID)
Test Group
Endocrinology
Specialties
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
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
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