Clinical Indication ID & Name
Alstrom syndrome
Test Group
Endocrinology
Specialties
Test code
R106.1
Test name
N/A
Target genes
ALMS1
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features strongly indicative of a diagnosis of Alstrom syndrome including at least two of the following:
1. Hepatobiliary disease
2. Retinal degeneration
3. Childhood onset obesity
4. Renal disease
Commissioning group
Highly 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 overlapping or atypical presentations where features are not characteristic of Alstrom syndrome specifically
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