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Cat DNA testing illustration

Congenital Erythropoietic Porphyria CEP (2 variants)

Code: K469

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

Search by our number or the laboratory number. An unmatched number is saved as a previous / external reference. No new physical sample is needed.
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Short description

Congenital Erythropoietic Porphyria (CEP) is an inborn error of heme biosynthesis resulting from the deficient function of the enzyme uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthetic pathway.

General Information

Congenital Erythropoietic Porphyria (CEP) is an inborn error of heme biosynthesis resulting from the deficient function of the enzyme uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthetic pathway.

Clinical signs are erythrodontia (brownish discoloured teeth) and reddish brown urine.

Included tests

K387 — Congenital Erythropoietic Porphyria (CEP) 1
K391 — Congenital Erythropoietic Porphyria (CEP) 2

Specifications

Breeds

All Breeds
Organ

NVT
Specimen

Copan eNAT swab, Blood EDTA, Blood Heparin, Semen, Tissue

References

Pubmed ID:

Omia ID:

Turnaround information

  • 15 working days