Request / Find a Test Tool

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

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Kagami-Ogata syndrome – paternal uniparental disomy 14

Clinical Indication ID & Name


Kagami-Ogata syndrome - paternal uniparental disomy 14

Test Group


Test code


Test name


Target genes

UPD14 critical region

Test scope


Test method/ technology

Methylation testing

Optimal Family Structure


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


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

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


Education resources


Service updates


Request form download

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form