Hereditary Coproporphyria: CPOX Sequencing

Diagnostic Use

Hereditary Coproporphyria (HCP) is a low penetrance, autosomal dominant disorder which presents with excessive accumulation and excretion of protoporphyrin. Symptoms include skin lesions and/or acute neurovisceral attacks. Approximately 75% of affected individuals remain asymptomatic, but are at risk if exposed to certain drugs, alcohol or other factors. HCP is caused by a partial deficiency of coproporphyrinogen oxidase (CPOX), which catalyses the penultimate reaction in heme biosynthesis. The enzyme is located in the inner membrane of mitochondria in various tissues, primarily the liver. The CPOX gene spans 18 kb on chromosome 3 and contains 7 exons.


Genetics - Molecular Pathology

Delphic Registration Code




Turnaround Time

4 weeks