HEREDITARY COPROPORPHYRIA - CPOX - MLPA

New Test in NOÛS Catalog

Test Code: 7881

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
Delivery term:	22 days
Information:
Hereditary Coproporphyria is a form of acute hepatic porphyria that is characterised by the occurrence of neuro-visceral type attacks and, more rarely, by the presence of cutaneous lesions. The prevalence in Europe is estimated at around 1/1,000,000. The disease is manifested after puberty and mainly affects women. Patients suffer episodes that may persist during several weeks and are manifested with intense abdominal pain (in 85-5% of the cases), and psychological and neurological symptoms. Hereditary coproporphyria is caused by a deficiency in the coproporphyrinogen oxidase that leads to an accumulation of porphyrins and their precursors in the liver (delta-aminolevulinic acid, ALA and porphobilinogen, PBG). The deficiency of the enzyme is caused by mutations in the CPOX gen that encodes for the CPO (3q12). The transmission is autosomal dominant. The differential diagnosis includes intermittent acute porphyria and, especially, variegate porphyria. Genetic counselling should be offered to patients and families to identify the individuals susceptible to developing or transmitting the disease.

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