Clinical Indication ID & Name
Alpha-1-antitrypsin deficiency
Test Group
Respiratory
Test code
R191.1
Test name
N/A
Target genes
SERPINA1 common mutations
Test scope
n/a
Test method/ technology
Targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Plasma concentration of alpha-1-antitrypsin below normal range, AND
1. Prolonged neonatal jaundice with an inconclusive alpha-1-antitrypsin phenotyping result, OR
2. Mutation analysis will inform reproductive choice, OR
3. Adult with cirrhosis or emphysema where a genetic diagnosis would influence management following an inconclusive alpha-1-antitrypsin phenotyping result
Commissioning group
Specialised
Overlapping idications
n/a
Address for samples/request forms
Clinical Genetics & Genomics Laboratory
Royal Brompton Hospital
2nd (Ground) Floor, Sydney Wing
Sydney Street
London SW3 6NP
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