Clinical Indication ID & Name

R169

Acute intermittent porphyria

Test Group

Gastrohepatology

Specialties

Clinical Genetics Dermatology Gastroenterology Hepatology Neurology Paediatrics

Test code

R169.1

Test name

N/A

Target genes

HMBS

Test scope

n/a

Test method/ technology

Single gene sequencing >=10 amplicons

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features of acute intermittent porphyria (AIP), AND ALA, PBG, or total porphyrin testing suggests diagnosis of AIP

Commissioning group

HSS/Specialised

Overlapping idications

n/a

Address for samples/request forms

SYNNOVIS ANALYTICS MOLECULAR PATHOLOGY LABORATORY
Molecular Pathology c/o Central Specimen Reception,
Blood Sciences Laboratory,
Ground Floor Bessemer Wing,
King’s College Hospital,
Denmark Hill,
London,
SE5 9RS

Contact with queries

kch-tr.pnd@nhs.net

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

Molecular Pathology Order Form Record of Discussion Form

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

Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.