Porphyria (AIP-Autosomal Recessive)

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Related Terms: Acute Intermittent Porphyria, HMBS

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.

3 weeks

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Sample Processing

Cost: $150.00

Species and Breeds
Feline - Domestic Short Hair

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Clinical signs become apparent at 3 weeks of age. Clinical signs include erythrodontia (tooth discoloration), brownish urine, fluorescent bones, and elevated urinary uroporphyrin and coproporphyrin.

Normal

Autosomal recessive

Porphyrin accumulation in teeth, bones and other tissues.

HMBS and NM_001177808.1:c.250G>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 (AIP-Autosomal Recessive) 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 (AIP-Autosomal Recessive) 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 (AIP-Autosomal Recessive) and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.

Clavero S, Bishop DF, Haskins ME, Giger U, Kauppinen R, Desnick RJ. Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. Hum Mol Genet. 2010 Feb 15;19(4):584-96. doi: 10.1093/hmg/ddp525. Epub 2009 Nov 24. PMID: 19934113; PMCID: PMC2807367.