Clinical Indication ID & Name
Non-acute porphyrias
Test Group
Gastrohepatology
Specialties
Test code
R168.1
Test name
N/A
Target genes
Non-acute porphyrias (513)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Clinical diagnosis of any of the non-acute types of porphyria, including:
• Porphyria cutanea tarda
• Congenital erythropoietic porphyria
• Erythropoietic protoporphyria
• Coproporphyria
Test code
R168.2
Test name
N/A
Target genes
Non-acute porphyrias (513)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Clinical diagnosis of any of the non-acute types of porphyria, including:
• Porphyria cutanea tarda
• Congenital erythropoietic porphyria
• Erythropoietic protoporphyria
• Coproporphyria
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
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