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
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
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
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