Clinical Indication ID & Name
Tuberous sclerosis
Test Group
Neurology
Test code
R228.1
Test name
N/A
Target genes
TSC1;TSC2
Test scope
n/a
Test method/ technology
Small panel
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
Test code
R228.2
Test name
N/A
Target genes
TSC1;TSC2
Test scope
n/a
Test method/ technology
MLPA or equivalent
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
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
Rare Disese WGS Clinician pack
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