Porphyria (CEP)

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Related Terms: Congenital Erythropoietic Porphyria, UROS

Type: DNA

Sample Types: Cheek brushes/swabs or Fresh EDTA blood

This type of test request requires a pre approval. Please email PennGen@vet.upenn.edu to get pre approval before taking any samples. If you don't get a pre approval your request will be cancelled.

As late as 9 years of age

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Sample Processing

Cost: $150.00

Species and Breeds
Feline - Domestic Short Hair

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Clinical signs become apparent later in life and can be as late as 9 years of age. Clinical signs include dark-red urine and erythrodontia (tooth discoloration) with pink/red fluorescence under ultraviolet light.

Normal

Autosomal recessive

Porphyrin accumulation in teeth, bones and other tissues.

UROS and XM_003994514.4:c.140C>T (Domestic Short Hair) UROS and XM_003994514.4:c.331G>A (Domestic Short Hair)

Explanation of Results
Genotype Phenotype Interpretation
2-2 (Homozygous Disease Variant) Unhealthy (Affected) Homozygous Affecteds (2-2) are expected to develop signs consistent with Porphyria (CEP) and all of their offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.
1-2 (Heterozygous) Healthy (Carrier) Heterozygous Carriers (1-2) are not expected to develop signs of Porphyria (CEP) but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.
1-1 (Homozygous Normal) Healthy (Normal, Clear) Homozygous Normals (1-1) are not expected to develop signs of Porphyria (CEP) and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.

Clavero S, Bishop DF, Giger U, Haskins ME, Desnick RJ. Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. Mol Med. 2010 Sep-Oct;16(9-10):381-8. doi: 10.2119/molmed.2010.00038. Epub 2010 May 12. PMID: 20485863; PMCID: PMC2935953.