Clinical Indication ID & Name
Smith-Lemli-Opitz syndrome
Test Group
Metabolic
Specialties
Test code
R270.1
Test name
N/A
Target genes
DHCR7
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Clinical and biochemical features characteristic of Smith-Lemli-Opitz syndrome
Test code
R270.2
Test name
N/A
Target genes
DHCR7
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Clinical and biochemical features characteristic of Smith-Lemli-Opitz syndrome
Commissioning group
Specialised
Overlapping idications
• R98 Likely inborn error of metabolism - targeted testing is not possible, R27 Congenital malformation and dysmorphism syndromes – likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with atypical features in whom a broader differential diagnosis is under consideration
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