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

R268

Kagami-Ogata syndrome - paternal uniparental disomy 14

Test Group

Endocrinology

Specialties

Clinical Genetics Fetal Medicine Nephrology Neurology Respiratory Medicine

Test code

R268.1

Test name

N/A

Target genes

UPD14 critical region

Test scope

n/a

Test method/ technology

Methylation testing

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features suggestive of tuberous sclerosis requiring molecular testing

Testing should be typically be targeted at those with one or more major features or two or more minor features:

1. Major features:
a. Hypomelanotic macules (at least 3 of at least 5 mm in diameter)
b. Angiofibromas (at least three) or fibrous cephalic plaque
c. Ungual fibromas (at least two)
d. Shagreen patch
e. Multiple retinal hamartomas
f. Cortical dysplasias characteristic of tuberous sclerosis such as tubers and cerebral white matter radial migration lines
g. Subependymal nodules
h. Subependymal giant cell astrocytoma
i. Cardiac rhabdomyomas
j. Lymphangioleiomyomatosis (LAM)
k. Angiomyolipomas (at least two)

2. Minor features:
a. Confetti skin lesions
b. Dental enamel pits (>3)
c. Intraoral fibromas (at least two)
d. Retinal achromic patch
e. Multiple renal cysts
f. Non- renal hamartomas

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

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