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
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
Rare Disese WGS Clinician pack
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form